##SnpEffVersion="4.1a (build 2015-01-14), by Pablo Cingolani"
##SnpEffCmd="SnpEff  GRCh37.75 examples/test.chr22.vcf "
##INFO=<ID=ANN,Number=.,Type=String,Description="Functional annotations: 'Allele | Annotation | Annotation_Impact | Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO' ">
##INFO=<ID=LOF,Number=.,Type=String,Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' ">
##INFO=<ID=NMD,Number=.,Type=String,Description="Predicted nonsense mediated decay effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' ">
##SnpSiftVersion="SnpSift 4.1a (build 2015-01-14), by Pablo Cingolani"
##SnpSiftCmd="SnpSift filter '(ANN[*].EFFECT = 'missense_variant') && (ANN[*].GENE = 'TRMT2A')' examples/test.chr22.ann.vcf"
##FILTER=<ID=SnpSift,Description="SnpSift 4.1a (build 2015-01-14), by Pablo Cingolani, Expression used: (ANN[*].EFFECT = 'missense_variant') && (ANN[*].GENE = 'TRMT2A')">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
22	20100133	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1885C>T|p.Pro629Ser|2201/2473|1885/1932|629/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1831C>T|p.Pro611Ser|2220/2964|1831/1878|611/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1831C>T|p.Pro611Ser|2193/2928|1831/1878|611/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.430C>T|p.Pro144Ser|430/739|430/477|144/158||WARNING_TRANSCRIPT_NO_START_CODON,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.382C>T|p.Pro128Ser|384/426|382/424|128/140||WARNING_TRANSCRIPT_INCOMPLETE,A|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*164C>T|||||164|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||735|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||3328|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||3328|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||3328|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||4814|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||4914|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||4938|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||4947|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||739|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||735|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||738|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||738|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||733|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||3426|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||1349|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>T|||||282|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>T|||||508|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>T|||||876|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>T|||||1040|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>T|||||1094|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||2157|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||2727|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||2739|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||2967|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||3000|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||3632|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.453C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.758C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.543C>T||||||
22	20100158	.	G	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1860C>G|p.Ser620Arg|2176/2473|1860/1932|620/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1806C>G|p.Ser602Arg|2195/2964|1806/1878|602/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1806C>G|p.Ser602Arg|2168/2928|1806/1878|602/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.405C>G|p.Ser135Arg|405/739|405/477|135/158||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.357C>G|p.Ser119Arg|359/426|357/424|119/140||WARNING_TRANSCRIPT_INCOMPLETE,C|sequence_feature|MODERATE|TRMT2A|ENSG00000099899|amino_acid_modification:Phosphoserine|ENST00000403707|protein_coding|13/13|c.1806C>G||||||,C|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*139C>G|||||139|,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>G|||||760|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>C|||||3303|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>C|||||3303|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>C|||||3303|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>C|||||4789|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>C|||||4889|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>C|||||4913|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>C|||||4922|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>C|||||764|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>C|||||760|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>C|||||763|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>C|||||763|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>C|||||758|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>C|||||3451|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>C|||||1374|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098C>G|||||257|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854C>G|||||483|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848C>G|||||851|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379C>G|||||1015|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757C>G|||||1069|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>G|||||2132|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>G|||||2702|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>G|||||2714|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>G|||||2942|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>G|||||2975|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>G|||||3607|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.428C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.733C>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.518C>G||||||
22	20100273	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|12/12|c.1745G>A|p.Arg582Gln|2061/2473|1745/1932|582/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|12/12|c.1691G>A|p.Arg564Gln|2080/2964|1691/1878|564/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|13/13|c.1691G>A|p.Arg564Gln|2053/2928|1691/1878|564/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|4/4|c.290G>A|p.Arg97Gln|290/739|290/477|97/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|3/3|c.242G>A|p.Arg81Gln|244/426|242/424|81/140||WARNING_TRANSCRIPT_INCOMPLETE,T|3_prime_UTR_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|12/12|c.*24G>A|||||24|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||875|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||3188|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||3188|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||3188|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4674|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4774|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4798|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4807|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4903|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||879|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||875|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||878|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||878|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||873|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3566|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1489|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.*1098G>A|||||142|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.*854G>A|||||368|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||736|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||900|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||954|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||2017|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2587|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2599|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2827|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2860|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3492|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|2/2|n.313G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|4/4|n.618G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|3/3|n.403G>A||||||
22	20100674	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1570G>A|p.Val524Met|1886/2473|1570/1932|524/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1516G>A|p.Val506Met|1905/2964|1516/1878|506/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1516G>A|p.Val506Met|1878/2928|1516/1878|506/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.160G>A|p.Val54Met|160/739|160/477|54/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1516G>A|p.Val506Met|1855/2498|1516/1689|506/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1276|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4783|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2787|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2787|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2787|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4273|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4373|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4397|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4406|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4502|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4631|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4724|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4802|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1280|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1276|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1279|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1279|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1274|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3967|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1890|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||335|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||499|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||553|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1616|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2186|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2198|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2426|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2459|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3091|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+281G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.28G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.327G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.228G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.949G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.821G>A||||||
22	20100697	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|10/12|c.1547G>A|p.Ser516Asn|1863/2473|1547/1932|516/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|10/12|c.1493G>A|p.Ser498Asn|1882/2964|1493/1878|498/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|11/13|c.1493G>A|p.Ser498Asn|1855/2928|1493/1878|498/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|2/4|c.137G>A|p.Ser46Asn|137/739|137/477|46/158||WARNING_TRANSCRIPT_NO_START_CODON,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|10/12|c.1493G>A|p.Ser498Asn|1832/2498|1493/1689|498/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1299|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4760|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2764|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2764|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2764|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||4250|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4350|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4374|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4383|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4479|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4608|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4701|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4779|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1303|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1299|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1302|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1302|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1297|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||3990|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||1913|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.*848G>A|||||312|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||476|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||530|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1593|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||2163|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||2175|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2403|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2436|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||3068|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/2|c.197+258G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron|1/2|n.5G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|3/4|n.304G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron|1/3|n.205G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|8/9|n.926G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|8/8|n.798G>A||||||
22	20101025	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|2/3|c.127A>G|p.Lys43Glu|129/426|127/424|43/140||WARNING_TRANSCRIPT_INCOMPLETE,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/12|c.1416A>G|p.Val472Val|1732/2473|1416/1932|472/643||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|9/12|c.1362A>G|p.Val454Val|1751/2964|1362/1878|454/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|10/13|c.1362A>G|p.Val454Val|1724/2928|1362/1878|454/625||,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding|1/4|c.6A>G|p.Val2Val|6/739|6/477|2/158||WARNING_TRANSCRIPT_NO_START_CODON,C|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|9/12|c.1362A>G|p.Val454Val|1701/2498|1362/1689|454/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||1627|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||4432|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||324|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||124|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||2436|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||2436|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||2436|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||3922|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||4022|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||4046|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||4055|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||4151|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||4280|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||4373|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||4451|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||1631|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||1627|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||1630|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||1630|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||1625|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555T>C|||||4318|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||2241|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379A>G|||||148|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757A>G|||||202|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582A>G|||||1265|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||1835|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||1847|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||2075|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||2108|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||2740|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/4|n.173A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|7/9|n.795A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|7/8|n.667A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|5/5|n.832A>G||||||
22	20101045	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|9/12|c.1396G>A|p.Ala466Thr|1712/2473|1396/1932|466/643||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||1647|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||4412|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||344|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||15|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||144|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||2416|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||2416|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||2416|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||3902|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||4002|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||4026|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||4035|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||4131|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||4260|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||4353|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||4431|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||1651|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||1647|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||1650|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||1650|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||1645|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555C>T|||||4338|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||2261|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.*379G>A|||||128|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.*757G>A|||||182|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582G>A|||||1245|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957G>A|||||1815|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378G>A|||||1827|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060G>A|||||2055|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943G>A|||||2088|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||2720|WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|9/12|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|1/2|c.122-15G>A||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|6/8|n.790-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|6/7|n.662-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|4/4|n.827-15G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|2/4|n.153G>A||||||
22	20101233	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding|1/3|c.97C>T|p.His33Tyr|99/426|97/424|33/140||WARNING_TRANSCRIPT_INCOMPLETE,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1648/2473|1332/1932|444/643||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1721/2964|1332/1878|444/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|9/13|c.1332C>T|p.Gly444Gly|1694/2928|1332/1878|444/625||,A|synonymous_variant|LOW|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|8/12|c.1332C>T|p.Gly444Gly|1671/2498|1332/1689|444/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||1835|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||4224|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||532|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||203|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||332|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||2228|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||2228|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||2228|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||3714|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||3814|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||3838|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||3847|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||3943|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||4072|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||4165|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||4243|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||1839|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||1835|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||1838|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||1838|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||1833|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000485802|retained_intron||n.*555G>A|||||4526|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||2449|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.*582C>T|||||1057|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||1627|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||1639|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||1867|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||1900|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||2532|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron|1/4|n.89C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|6/9|n.765C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|6/8|n.637C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|4/5|n.802C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|3/3|n.319C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|4/4|n.751C>T||||||
22	20102308	.	A	G	.	.	ANN=G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1413/2473|1097/1932|366/643||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1486/2964|1097/1878|366/625||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1097T>C|p.Leu366Pro|1459/2928|1097/1878|366/625||,G|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1097T>C|p.Leu366Pro|1436/2498|1097/1689|366/562||,G|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>C|||||2910|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>G|||||3149|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>C|||||1607|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>C|||||1278|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>C|||||987|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>C|||||1407|,G|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>C|||||977|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>G|||||1153|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>G|||||1153|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>G|||||1153|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>G|||||2639|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>G|||||2739|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>G|||||2763|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>G|||||2772|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>G|||||2868|,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>G|||||2997|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>G|||||3090|WARNING_TRANSCRIPT_INCOMPLETE,G|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>G|||||3168|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>G|||||2914|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>G|||||2910|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>G|||||2913|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>G|||||2913|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>G|||||2908|,G|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>G|||||3524|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957T>C|||||552|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>C|||||564|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>C|||||792|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>C|||||825|,G|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>C|||||1457|WARNING_TRANSCRIPT_INCOMPLETE,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.530T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.406T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.567T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.84T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.520T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.564T>C||||||
22	20102330	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1391/2473|1075/1932|359/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1464/2964|1075/1878|359/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|7/13|c.1075A>G|p.Arg359Gly|1437/2928|1075/1878|359/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|6/12|c.1075A>G|p.Arg359Gly|1414/2498|1075/1689|359/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||2932|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||3127|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||1629|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||1300|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||1009|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||1429|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||999|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248T>C|||||1131|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832T>C|||||1131|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248T>C|||||1131|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||2617|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||2717|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||2741|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||2750|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||2846|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||2975|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||3068|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||3146|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||2936|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||2932|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||2935|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||2935|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||2930|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669T>C|||||3546|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957A>G|||||530|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378A>G|||||542|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060A>G|||||770|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943A>G|||||803|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582A>G|||||1435|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|4/9|n.508A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|4/8|n.384A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|2/5|n.545A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript|1/3|n.62A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|2/4|n.498A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|3/3|n.542A>G||||||
22	20102855	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.824C>T|p.Pro275Leu|1140/2473|824/1932|275/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.824C>T|p.Pro275Leu|1213/2964|824/1878|275/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.824C>T|p.Pro275Leu|1186/2928|824/1878|275/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.824C>T|p.Pro275Leu|1163/2498|824/1689|275/562||,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||3457|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||2602|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2154|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||1825|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||1534|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||1954|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||1524|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||464|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>A|||||606|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>A|||||606|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>A|||||606|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||2092|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||2192|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||2216|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||2225|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||2321|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||2450|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||2543|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||2621|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||3461|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||3457|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||3460|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||3460|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||3455|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4071|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.*957C>T|||||5|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378C>T|||||17|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060C>T|||||245|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943C>T|||||278|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||910|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.257C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.133C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.108C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.61C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.291C>T||||||
22	20102871	.	A	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|4/12|c.808T>G|p.Cys270Gly|1124/2473|808/1932|270/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|4/12|c.808T>G|p.Cys270Gly|1197/2964|808/1878|270/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|5/13|c.808T>G|p.Cys270Gly|1170/2928|808/1878|270/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|4/12|c.808T>G|p.Cys270Gly|1147/2498|808/1689|270/562||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1T>G|||||3473|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219A>C|||||2586|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1T>G|||||2170|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1T>G|||||1841|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1T>G|||||1550|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1T>G|||||1970|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3T>G|||||1540|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1T>G|||||480|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248A>C|||||590|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832A>C|||||590|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248A>C|||||590|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227A>C|||||2076|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1A>C|||||2176|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103A>C|||||2200|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94A>C|||||2209|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1A>C|||||2305|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486A>C|||||2434|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174A>C|||||2527|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497A>C|||||2605|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751A>C|||||3477|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652A>C|||||3473|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695A>C|||||3476|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365A>C|||||3476|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661A>C|||||3471|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669A>C|||||4087|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.*378T>G|||||1|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron||n.*1060T>G|||||229|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron||n.*943T>G|||||262|,C|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582T>G|||||894|WARNING_TRANSCRIPT_INCOMPLETE,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|2/9|n.241T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript|2/8|n.117T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron|1/5|n.92T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron|1/4|n.45T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron|1/3|n.275T>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.946T>G||||||
22	20103253	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/12|c.650G>A|p.Arg217Lys|966/2473|650/1932|217/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/12|c.650G>A|p.Arg217Lys|1039/2964|650/1878|217/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/13|c.650G>A|p.Arg217Lys|1012/2928|650/1878|217/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/12|c.650G>A|p.Arg217Lys|989/2498|650/1689|217/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||3855|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||2204|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||2552|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2223|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||1932|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2352|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||1922|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||42|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||291|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||862|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||338|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||108|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248C>T|||||208|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832C>T|||||208|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248C>T|||||208|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1694|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1794|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1818|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1827|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1923|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||2052|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||2145|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||2223|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||3859|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||3855|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||3858|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||3858|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||3853|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4469|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||512|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/9|n.83G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.564G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/3|n.114G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.907G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.823G>A||||||
22	20103263	.	G	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|3/12|c.640C>A|p.Leu214Ile|956/2473|640/1932|214/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|3/12|c.640C>A|p.Leu214Ile|1029/2964|640/1878|214/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|4/13|c.640C>A|p.Leu214Ile|1002/2928|640/1878|214/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|3/12|c.640C>A|p.Leu214Ile|979/2498|640/1689|214/562||,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>A|||||3865|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>T|||||2194|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>A|||||2562|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>A|||||2233|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>A|||||1942|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>A|||||2362|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>A|||||1932|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>A|||||52|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>A|||||301|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>A|||||872|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>A|||||348|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>A|||||118|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding||c.-248G>T|||||198|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding||c.-832G>T|||||198|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay||n.-248G>T|||||198|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>T|||||1684|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>T|||||1784|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>T|||||1808|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>T|||||1817|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>T|||||1913|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>T|||||2042|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>T|||||2135|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>T|||||2213|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>T|||||3869|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>T|||||3865|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>T|||||3868|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>T|||||3868|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>T|||||3863|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>T|||||4479|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>A|||||502|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron|1/9|n.73C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|2/2|n.554C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|2/3|n.104C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|3/3|n.897C>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|4/4|n.813C>A||||||
22	20103604	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.556C>T|p.Arg186Trp|872/2473|556/1932|186/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.556C>T|p.Arg186Trp|945/2964|556/1878|186/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.556C>T|p.Arg186Trp|918/2928|556/1878|186/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.556C>T|p.Arg186Trp|895/2498|556/1689|186/562||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|4/13|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000403707|protein_coding|3/13|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|3/12|c.556C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|coiled-coil_region|ENST00000404751|protein_coding|2/12|c.556C>T||||||,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.-104G>A|||||104|WARNING_TRANSCRIPT_INCOMPLETE,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-688G>A|||||6577|,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-104G>A|||||104|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4206|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1853|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||2903|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2574|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2283|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2703|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2273|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||269|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||393|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||642|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1213|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||689|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||459|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1343|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1443|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1467|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1476|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1572|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1701|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1794|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1872|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4210|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4206|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4209|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4209|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4204|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4820|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||161|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.470C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript|1/3|n.20C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.833C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.729C>T||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.-104G>A||||||
22	20103736	.	G	A	.	.	ANN=A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.424C>T|p.Arg142Cys|740/2473|424/1932|142/643||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.424C>T|p.Arg142Cys|813/2964|424/1878|142/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.424C>T|p.Arg142Cys|786/2928|424/1878|142/625||,A|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.424C>T|p.Arg142Cys|763/2498|424/1689|142/562||,A|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.29G>A|p.Arg10His|276/744|29/497|10/164||WARNING_TRANSCRIPT_INCOMPLETE,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.424C>T||||||,A|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.424C>T||||||,A|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-556G>A|||||6445|,A|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1C>T|||||4338|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219G>A|||||1721|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1C>T|||||3035|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1C>T|||||2706|WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1C>T|||||2415|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1C>T|||||2835|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3C>T|||||2405|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1C>T|||||401|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1C>T|||||525|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1C>T|||||774|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1C>T|||||1345|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1C>T|||||821|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1C>T|||||591|,A|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1C>T|||||113|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227G>A|||||1211|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1G>A|||||1311|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103G>A|||||1335|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94G>A|||||1344|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1G>A|||||1440|,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486G>A|||||1569|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174G>A|||||1662|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497G>A|||||1740|WARNING_TRANSCRIPT_INCOMPLETE,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751G>A|||||4342|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652G>A|||||4338|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695G>A|||||4341|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365G>A|||||4341|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661G>A|||||4336|,A|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669G>A|||||4952|,A|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582C>T|||||29|WARNING_TRANSCRIPT_INCOMPLETE,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.338C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.701C>T||||||,A|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.597C>T||||||,A|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.29G>A||||||
22	20103750	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.410G>A|p.Arg137His|726/2473|410/1932|137/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.410G>A|p.Arg137His|799/2964|410/1878|137/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.410G>A|p.Arg137His|772/2928|410/1878|137/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.410G>A|p.Arg137His|749/2498|410/1689|137/562||,T|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.43C>T|p.Arg15Trp|290/744|43/497|15/164||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.410G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.410G>A||||||,T|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-542C>T|||||6431|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4352|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1707|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3049|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2720|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2429|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||2849|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2419|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||415|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||539|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||788|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1359|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||835|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||605|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||127|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1197|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1297|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1321|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1330|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1426|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1555|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1648|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1726|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4356|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4352|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4355|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4350|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000475941|retained_intron||n.*2669C>T|||||4966|,T|downstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding||c.*582G>A|||||15|WARNING_TRANSCRIPT_INCOMPLETE,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.324G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.687G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.583G>A||||||,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.43C>T||||||
22	20103915	.	C	T	.	.	ANN=T|stop_gained|HIGH|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.208C>T|p.Arg70*|455/744|208/497|70/164||WARNING_TRANSCRIPT_INCOMPLETE,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.245G>A|p.Arg82His|561/2473|245/1932|82/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.245G>A|p.Arg82His|634/2964|245/1878|82/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.245G>A|p.Arg82His|607/2928|245/1878|82/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.245G>A|p.Arg82His|584/2498|245/1689|82/562||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.209G>A|p.Arg70His|432/582|209/359|70/118||WARNING_TRANSCRIPT_INCOMPLETE,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.245G>A||||||,T|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.245G>A||||||,T|5_prime_UTR_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/6|c.-377C>T|||||6266|,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4517|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1542|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3214|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||2885|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2594|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||3014|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2584|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||580|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||704|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||953|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1524|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||1000|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||770|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||292|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||1032|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||1132|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||1156|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||1165|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1261|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1390|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1483|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1561|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4521|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4517|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4520|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4520|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4515|,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.159G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.522G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.418G>A||||||,T|non_coding_exon_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/6|n.208C>T||||||;LOF=(RANBP1|ENSG00000099901|14|0.07);NMD=(RANBP1|ENSG00000099901|14|0.07)
22	20103925	.	T	C	.	.	ANN=C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.235A>G|p.Asn79Asp|551/2473|235/1932|79/643||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.235A>G|p.Asn79Asp|624/2964|235/1878|79/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.235A>G|p.Asn79Asp|597/2928|235/1878|79/625||,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.235A>G|p.Asn79Asp|574/2498|235/1689|79/562||,C|missense_variant|MODERATE|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/3|c.218T>C|p.Phe73Ser|465/744|218/497|73/164||WARNING_TRANSCRIPT_INCOMPLETE,C|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.199A>G|p.Asn67Asp|422/582|199/359|67/118||WARNING_TRANSCRIPT_INCOMPLETE,C|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+7T>C||||||,C|splice_region_variant&intron_variant|LOW|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+7T>C||||||,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000403707|protein_coding|3/13|c.235A>G||||||,C|sequence_feature|LOW|TRMT2A|ENSG00000099899|domain:RRM|ENST00000404751|protein_coding|2/12|c.235A>G||||||,C|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1A>G|||||4527|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219T>C|||||1532|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1A>G|||||3224|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1A>G|||||2895|WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1A>G|||||2604|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1A>G|||||3024|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3A>G|||||2594|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1A>G|||||590|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1A>G|||||714|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1A>G|||||963|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1A>G|||||1534|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1A>G|||||1010|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1A>G|||||780|,C|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1A>G|||||302|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227T>C|||||1022|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1T>C|||||1122|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103T>C|||||1146|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94T>C|||||1155|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1T>C|||||1251|,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486T>C|||||1380|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174T>C|||||1473|WARNING_TRANSCRIPT_INCOMPLETE,C|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497T>C|||||1551|WARNING_TRANSCRIPT_INCOMPLETE,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751T>C|||||4531|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652T>C|||||4527|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695T>C|||||4530|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365T>C|||||4530|,C|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661T>C|||||4525|,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron|1/2|n.149A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.512A>G||||||,C|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.408A>G||||||
22	20104101	.	C	T	.	.	ANN=T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000439169|protein_coding|2/12|c.59G>A|p.Ser20Asn|375/2473|59/1932|20/643||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000252136|protein_coding|2/12|c.59G>A|p.Ser20Asn|448/2964|59/1878|20/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000403707|protein_coding|3/13|c.59G>A|p.Ser20Asn|421/2928|59/1878|20/625||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000404751|protein_coding|2/12|c.59G>A|p.Ser20Asn|398/2498|59/1689|20/562||,T|missense_variant|MODERATE|TRMT2A|ENSG00000099899|transcript|ENST00000445045|protein_coding|2/2|c.23G>A|p.Ser8Asn|246/582|23/359|8/118||WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|AC006547.8|ENSG00000243762|transcript|ENST00000412713|antisense||n.-1G>A|||||4703|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000423859|protein_coding||c.-219C>T|||||1356|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480339|retained_intron||n.-1G>A|||||3400|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444845|protein_coding||c.-1G>A|||||3071|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487668|retained_intron||n.-1G>A|||||2780|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000487378|retained_intron||n.-1G>A|||||3200|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000444256|protein_coding||c.-3G>A|||||2770|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494820|retained_intron||n.-1G>A|||||766|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000492988|processed_transcript||n.-1G>A|||||890|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000471040|retained_intron||n.-1G>A|||||1139|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000488335|processed_transcript||n.-1G>A|||||1710|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000463710|retained_intron||n.-1G>A|||||1186|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000459644|retained_intron||n.-1G>A|||||956|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000468917|retained_intron||n.-1G>A|||||28|,T|upstream_gene_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000480460|processed_transcript||n.-1G>A|||||478|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000402752|protein_coding||c.-227C>T|||||846|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000488484|retained_intron||n.-1C>T|||||946|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000331821|protein_coding||c.-103C>T|||||970|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000411892|protein_coding||c.-94C>T|||||979|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000467920|processed_transcript||n.-1C>T|||||1075|,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000416427|protein_coding||c.-486C>T|||||1204|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000421656|protein_coding||c.-174C>T|||||1297|WARNING_TRANSCRIPT_INCOMPLETE,T|upstream_gene_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000418705|protein_coding||c.-497C>T|||||1375|WARNING_TRANSCRIPT_INCOMPLETE,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000351989|protein_coding||c.*2751C>T|||||4707|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000383024|protein_coding||c.*2652C>T|||||4703|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000495826|retained_intron||n.*4695C>T|||||4706|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000407755|protein_coding||c.*2365C>T|||||4706|,T|downstream_gene_variant|MODIFIER|DGCR8|ENSG00000128191|transcript|ENST00000498171|retained_intron||n.*3661C>T|||||4701|,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000432879|protein_coding|1/2|c.246+148C>T||||||WARNING_TRANSCRIPT_INCOMPLETE,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000430524|protein_coding|1/5|c.-374+183C>T||||||,T|intron_variant|MODIFIER|RANBP1|ENSG00000099901|transcript|ENST00000435265|nonsense_mediated_decay|1/5|n.211+183C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000494641|retained_intron|2/3|n.336G>A||||||,T|non_coding_exon_variant|MODIFIER|TRMT2A|ENSG00000099899|transcript|ENST00000464535|retained_intron|3/4|n.232G>A||||||
