Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TPSD1_chr16_1251069_1264008	1254986	T T	TGGGTGGG others(220): Show TGGGTGGGGCTGGGACTAGTCCATGTGGGAGCTGGGCTGGGGCTGGGACT AGTTCATGGGGAGCTGGGCTGGGCTGGGACTAGTTCATTGGGGAGCTGGG CTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTT CATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCTCATGGGGAGCTGGGCT GGGGCTGGGGGTGAGTCCCATGGGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0018 a0001c0001t0040g0018	1	270	0.0037	227	c.-12 others(238): Show c.-1295_-1294insGGGTGGGGCTGGGACTAGTCCATGTGGGAGCTGG GCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGCTGGGACTAGTT CATTGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTG GGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCTC ATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCCATGGGGAGC		TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding					1082		chr16	TogoVar
TRAPPC12_chr2_3374694_3484565	3437358	A A	AATCACCC others(220): Show AATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAAT CCCCCAATCACCCCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0008 a0002c0007t0001g0008	1	344	0.0029	227	c.141 others(246): Show c.1418-6366_1418-6365insGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATC CCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATACCCCATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT G		TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(220): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAATTATATATATATTATATATATATATAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0004 a0000c0009t0004	a0000c0009t0004g0062 a0000c0009t0004g0062	1	272	0.0037	227	c.28 others(238): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAATTATATATATATTATATATATATATAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2210		chr11	TogoVar
TSPEAR_chr21_44492893_44716572	44502941	C C	CGGGGAAG others(220): Show CGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGA AGTAAGGCGCTGGGAGGGAGCTGGCCTCAGTGAGCCCTCGGGGAAGCAAG GCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGTG CTGGGAGAAAGCTGGCCTCGGTGAGCCCTCGGGGGGAAGGAAGGCTCTGG GAGGAGGCTGGCCTTGGTGAGCCCTCGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0020	a0001c0007t0020g0012 a0001c0007t0020g0012	1	294	0.0034	227	c.185 others(246): Show c.1856+1838_1856+1839insCCGAGGGCTCACCAAGGCCAGCCTCC TCCCAGAGCCTTCCTTCCCCCCGAGGGCTCACCGAGGCCAGCTTTCTCCC AGCACCTTGCTTCCCCACTGTGGGCTCACCGAGGCCAGCTTCCTCCCAGA GCCTTGCTTCCCCGAGGGCTCACTGAGGCCAGCTCCCTCCCAGCGCCTTA CTTCCCCGAGGGCTCACCGAGGCCAGCTTCCTCCCAGAGCCTTGCTTCCC C		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11						chr21	TogoVar
TUBGCP5_chr15_22994177_23044569	23043019	C C	CCAGAGGT others(220): Show CCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGTG GGGGGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGTATCATAAT CCCACCTGTCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCAGGA GGTGCTGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCT GGGGGTGACTTCATAAATGTCACCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	351	0.0029	227	c.-34 others(238): Show c.-3477_-3476insTCCAGGTGACATTTATGAAGTCACCCCCAGCACC TCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCAGCACCTCCTGC CAGCTGGGGTTATGATGGCCCCACAGCACCTCTGGACAGGTGGGATTATG ATACCCCCCAGCACCTCTGGCCAGGTGGGGTTATAATACCCCCCCACAGC ACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTG		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3451		chr15	TogoVar
TULP4_chr6_158307465_158516828	158349068	A A	AGGCAGAG others(220): Show AGGCAGAGGCGCTCCTCACTTCCCAGACGGGGCAGCCTGGCAGAGACGCT CCTCACATCCCATATGGGGTGGCAGCCGGGCAGAGGCGCTCCTCACCTCC CAGACAAAGGGCAGCCGGGCAGAGGCTCTCCTCACCTCCCAGACGGGGCG GCCGGGCAGAGGCGCTCCTCACTTCCCAGACAGGGCGGCCGGGCAGAGGC GCTCCCCATTTCCCAGATGGGGCAGCCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0013 a0001c0031 a0001c0005 a0001c0013 a0001c0031	a0001c0005t0044 a0001c0013t0016 a0001c0013t0043 others(1): Show a0001c0005t0044 a0001c0013t0016 a0001c0013t0043 a0001c0031t0016	a0001c0005t0044g0227 a0001c0013t0016g0225 a0001c0013t0016g0228 others(2): Show a0001c0005t0044g0227 a0001c0013t0016g0225 a0001c0013t0016g0228 a0001c0013t0043g0226 a0001c0031t0016g0224	5	268	0.0187	227	c.252 others(246): Show c.252+34826_252+34827insCGGGGCAGCCTGGCAGAGACGCTCCT CACATCCCATATGGGGTGGCAGCCGGGCAGAGGCGCTCCTCACCTCCCAG ACAAAGGGCAGCCGGGCAGAGGCTCTCCTCACCTCCCAGACGGGGCGGCC GGGCAGAGGCGCTCCTCACTTCCCAGACAGGGCGGCCGGGCAGAGGCGCT CCCCATTTCCCAGATGGGGCAGCCGGGCAGAGGCGCTCCTCACTTCCCAG A		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870478	A A	ACACCCCA others(220): Show ACACCCCACACACACCACACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCACACACACATCACATACCCCACACACCACACAC CCCCCACACACCACACACCCCCCACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACACCCAAACACCACA CACACCCACACCCCCACACACCACACCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	338	0.0030	227	c.35 others(246): Show c.35+21748_*35+21749insCCCACACACACCACACACACCACACA CCCCCCACACACCACACCCCACACACACCACACACCCACACACACATCAC ATACCCCACACACCACACACCCCCCACACACCACACACCCCCCACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACACCCAAACACCACACACACCCACACCCCCACACACCACACCCCA C		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(220): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATACGTATATATATATGTATATATATGTATATATATACGTATA TATATACGTATATATATGTATATATATACGTATATATACGTATATATATG TATATATATATGTATATATACGTATATATATACGTATATATATATGTATA TATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	186	0.0054	227	c.114 others(248): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATATACGTATATA TATACATATATATACGTATATAATATATACGTATATATATATACATATAT ATA		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9						chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(220): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATACGTATATATACGTATATATATACGTATATATATATGTA TATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA20805.hp1 HG01346.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0135 a0001c0001t0001g0103 a0001c0001t0001g0135	2	186	0.0108	227	c.114 others(248): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATACATATATATATACGTATATATATACGTATATATACGTATATATA TACATATATATACGTATATATACGTATATATATACATATATATACGTATA TATATACGTATATATATACATATATATACATATATATATACGTATATATA TATACATATATATACGTATATAATATATACGTATATATATATACATATAT ATA		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9						chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(220): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATATGTATATATACGTATATATATACGTATATATATATGTA TATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	186	0.0054	227	c.114 others(248): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATACATATATATATACGTATATATATACGTATATATACATATATATA TACATATATATACGTATATATACGTATATATATACATATATATACGTATA TATATACGTATATATATACATATATATACATATATATATACGTATATATA TATACATATATATACGTATATAATATATACGTATATATATATACATATAT ATA		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9						chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(220): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATGTATATATATACGTATA TATATACGTATATATATGTATATATATACGTATATATACGTATATATATG TATATATATATGTATATATACGTATATATATACGTATATATATATGTATA TATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	186	0.0054	227	c.114 others(248): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATACATATATATATACGTATATATA TATACATATATATACGTATATAATATATACGTATATATATATACATATAT ATA		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9						chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(220): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATGTATATATATGTATATATATACGTATA TATATACGTATATATATGTATATATATACGTATATATACGTATATATATG TATATATATATGTATATATACGTATATATATACGTATATATATATGTATA TATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03704.hp1 NA19002.hp1 others(1): Show HG03491.hp2 HG03704.hp1 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0165 a0001c0001t0002g0039 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0165 a0001c0001t0002g0039 a0001c0001t0002g0123	4	186	0.0215	227	c.114 others(248): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATACGTATATATA TATACATATATATACGTATATAATATATACGTATATATATATACATATAT ATA		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9						chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(220): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATGTATATATATGTATATATATACGTATA TATATATACGTATATATATGTATATATATGTATATATACGTATATATATG TATATATATGTATATATATACGTATATATATACGTATATATATATGTATA TATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp2 HG02572.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0184 a0001c0001t0005g0185	2	186	0.0108	227	c.114 others(248): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATATACATATA TATACATATATATACGTATATATACATATATATACATATATATACGTATA TATATATACGTATATATATACATATATATACATATATATACGTATATATA TATACATATATATACGTATATAATATATACGTATATATATATACATATAT ATA		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9						chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(220): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TGTATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATGTATATATACGTATATATATACGTATATATATATGTATA TATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp1 HG03516.hp1 HG02895.hp2 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0125	3	186	0.0161	227	c.114 others(248): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TACATATATATACGTATATATACGTATATATATACATATATATACGTATA TATATACGTATATATATACATATATATACATATATATATACGTATATATA TACACATATATATACGTATATAATATATACGTATATATATATACATATAT ATA		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9						chr6	TogoVar
VCX3B_chrX_8459830_8471510	8466895	A A	AGAGGTGT others(220): Show AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	227	c.51 others(236): Show c.512_*513insGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					386		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TTGTGGGG others(220): Show TTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGGTGTGATGGGGAGGGAGG GAGGGGGAGAGGAAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGATGGAGG AGGGAAGAGGGAAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGGAGGGAGGAGAGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0016 a0014c0020t0016	a0014c0020t0016g0001 a0014c0020t0016g0001	1	271	0.0037	227	c.79 others(236): Show c.797_*798insTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGGTGTG ATGGGGAGGGAGGGAGGGGGAGAGGAAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGATGGAGGAGGGAAGAGGGAAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGGAGGGAGGAGAGAGGAGG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					671		chrX	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(220): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 NA18951.hp2 HG02055.hp1 HG02280.hp1 NA18951.hp2	a0002 a0003 a0032 a0002 a0003 a0032	a0002c0002 a0003c0003 a0032c0029 a0002c0002 a0003c0003 a0032c0029	a0002c0002t0002 a0003c0003t0001 a0032c0029t0006 a0002c0002t0002 a0003c0003t0001 a0032c0029t0006	a0002c0002t0002g0002 a0003c0003t0001g0001 a0032c0029t0006g0004 a0002c0002t0002g0002 a0003c0003t0001g0001 a0032c0029t0006g0004	3	341	0.0088	227	c.25 others(236): Show c.259_*260insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG		VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding					133		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(220): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0016 a0016	a0016c0040 a0016c0040	a0016c0040t0001 a0016c0040t0001	a0016c0040t0001g0031 a0016c0040t0001g0031	1	274	0.0037	227	c.200 others(244): Show c.2004+709_2004+710insTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47					INFO_REALIGN_3_PRIME	chr3	TogoVar
WNT7A_chr3_13811258_13885071	13868996	A A	AAGAGAGA others(220): Show AAGAGAGAAAGAAAGAGAGAGAGAAAGTGAGAGAGAAAGAAAGGGAGAAA GAGAGAGAGAAAGCAAGTGAGAGAGAGAAAGAGGGAGAGAGAAAGAGAAA GAGGGAGAGAGAGGGAGGGAGGAATGAAAGAAAGAAGGAAGGAAGGAAAG AAGGAAGGACGGAAAAGAGAGAATGGAAGGAAGGAAGCAAGGAAGGAAGG GAGAAAGAGAGAGAGAAAGAAAAGAGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0095 a0001c0002t0095	a0001c0002t0095g0027 a0001c0002t0095g0027	1	354	0.0028	227	c.298 others(244): Show c.298+5950_298+5951insCTCTCTTTTCTTTCTCTCTCTCTTTCTC CCTTCCTTCCTTGCTTCCTTCCTTCCATTCTCTCTTTTCCGTCCTTCCTT CTTTCCTTCCTTCCTTCTTTCTTTCATTCCTCCCTCCCTCTCTCTCCCTC TTTCTCTTTCTCTCTCCCTCTTTCTCTCTCTCACTTGCTTTCTCTCTCTC TTTCTCCCTTTCTTTCTCTCTCACTTTCTCTCTCTCTTTCTTTCTCTCT		WNT7A	ENSG00000154764.6	transcript	ENST00000285018.5	protein_coding	2/3						chr3	TogoVar
WWTR1_chr3_149512235_149663025	149568337	G G	GATCGCAC others(220): Show GATCGCACCATTGCACTCCAGCCTGGGCAGCCAAGTCTCCATCACAAACA AACAAACAAACAAACAAAAAGTCTGTCTGGCTTGTGTAAAGAAAAAAAAA ATCTACTTTCATATGTATAGTAAAATTTCCCCTGTGTTACTTAAAAGTGA GGATCTGAACAAGTTGTTAACCCCCAAGTGACAATACTGATACGGCTTCC ACCAAAGGGTAACCTTTTCTCTTTATTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02970.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02970.hp2 HG03453.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0002t0034	a0001c0001t0002g0071 a0001c0001t0003g0111 a0001c0001t0004g0203 others(3): Show a0001c0001t0002g0071 a0001c0001t0003g0111 a0001c0001t0004g0203 a0001c0002t0003g0114 a0001c0002t0003g0138 a0001c0002t0034g0112	6	334	0.0180	227	c.568 others(244): Show c.568+4526_568+4527insTAATAAAGAGAAAAGGTTACCCTTTGGT GGAAGCCGTATCAGTATTGTCACTTGGGGGTTAACAACTTGTTCAGATCC TCACTTTTAAGTAACACAGGGGAAATTTTACTATACATATGAAAGTAGAT TTTTTTTTTCTTTACACAAGCCAGACAGACTTTTTGTTTGTTTGTTTGTT TGTTTGTGATGGAGACTTGGCTGCCCAGGCTGGAGTGCAATGGTGCGAT		WWTR1	ENSG00000018408.15	transcript	ENST00000360632.8	protein_coding	3/6						chr3	TogoVar
XRCC2_chr7_152639776_152681141	152674739	A A	AATATATT others(220): Show AATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATATT ATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTAAAATA TATATTATATATAAATATATTTTTAAATATATATTATATATAAATATATT TTTAAATATATATTATATATAAATATATTTTTAAATATATATTTATATAT AAATATATTTTTAAATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 NA21309.hp2 HG02451.hp2 HG03130.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0114 a0001c0001t0017g0115 a0001c0001t0017g0116 a0001c0001t0017g0114 a0001c0001t0017g0115 a0001c0001t0017g0116	3	394	0.0076	227	c.39+ others(242): Show c.39+1301_39+1302insATATATAAATATATTTAAAAATATATTTAT ATATAAATATATATTTAAAAATATATTTATATATAATATATATTTAAAAA TATATTTATATATAATATATATTTAAAAATATATTTATATATAATATATA TTTTAAAATATATTTATATATAATACATATTTTAAAATATATTTATATAA TATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT		XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2						chr7	TogoVar
XRCC2_chr7_152639776_152681141	152674739	A A	AATATATT others(220): Show AATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATATT ATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAATA TATATTATATATAAATATATTTTTAAATATATATTATATATAAATATATT TTTAAATATATATTATATATAAATATATTTTTAAATATATATTTATATAT AAATATATTTTTAAATATATTTATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0113 a0001c0001t0043g0113	1	394	0.0025	227	c.39+ others(242): Show c.39+1301_39+1302insATATATAAATATATTTAAAAATATATTTAT ATATAAATATATATTTAAAAATATATTTATATATAATATATATTTAAAAA TATATTTATATATAATATATATTTAAAAATATATTTATATATAATATATA TTTAAAAATATATTTATATATAATACATATTTTAAAATATATTTATATAA TATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT		XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2						chr7	TogoVar
ZBTB46_chr20_63738670_63836264	63747501	G G	GAAGGGGG others(220): Show GAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGCAGG TGGTGAGCAGGGCCAGGTGGAGGTTGGAAGGGGGGGCAGGGGGTGAGCAG GGCCTGGTGGAGGTGGGGGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGT TGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGCGGGG CAGGGGGTGAGCAGGGCCTGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	316	0.0032	227	c.139 others(244): Show c.1399-201_1399-200insACCCCAACCAGGCCCTGCTCACCCCCTG CCCCGCCCCCCCACCCACCAGGCCCTGCTCACCCCCTGGCCCCCCTCCCA ACCTCCACCGGGCCCTGCTCACCCCCTGCCCCCCCCACCTCCACCAGGCC CTGCTCACCCCCTGCCCCCCCTTCCAACCTCCACCTGGCCCTGCTCACCA CCTGCCCCCCCCACCTCCACCAGGCCCTGCTCACCCCCTGCCCCCCCTT		ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	4/4						chr20	TogoVar
ZFPM1_chr16_88448280_88542031	88461053	C C	CCTGGTGA others(220): Show CCTGGTGAGGACCGAGGGGTGCGAGGCCTGGTGAGGACCCAGGGATGGGG CGGGAGGCCTGGTGAGGACCCAGGGATGGGGCGGGAGGCCTGGTGAGGAC CGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGCGAGGCCTGGTGAGG ACCCAGGGATGGGGCGGGAGGCCTGGTGAGGACCCAGGGATGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0193 a0004c0004t0003g0193	1	318	0.0031	227	c.40+ others(242): Show c.40+7376_40+7377insTGGTGAGGACCGAGGGGTGCGAGGCCTGGT GAGGACCCAGGGATGGGGCGGGAGGCCTGGTGAGGACCCAGGGATGGGGC GGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCGAGGG GTGCGAGGCCTGGTGAGGACCCAGGGATGGGGCGGGAGGCCTGGTGAGGA CCCAGGGATGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGC		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(220): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATAAAATATATATTATATATATTTTATATATATAATATATATTATA TATATTATATATATAATATATATTATATATATTTTATATATATAATATAT ATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18981.hp2 NA18969.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0125 a0001c0001t0001g0083 a0001c0001t0001g0125	2	410	0.0049	227	c.125 others(242): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAATATATA TAATATATATTATATATATAAAATATATATAATATATATTTTATATATAA AATATATATAATATATATTATATATATAAAATATATATAATATATATTTT ATATATAAAATATATATAATATATATTTTATATATAAAATATATATA		ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3						chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(220): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATAATATATATTATATA TATTTTATATATATAATATATATTATATATATTTTATATATATAATATAT ATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	410	0.0024	227	c.125 others(242): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATAAAATATATATAATATATATTATATATATAA AATATATATAATATATATTATATATATAAAATATATATAATATATATTTT ATATATAAAATATATATAATATATATTTTATATATAAAATATATATA		ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3						chr19	TogoVar
ZNF705A_chr12_8152015_8185046	8184508	G G	GTCCGGGA others(220): Show GTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCAGCCAGCTGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCTCCATCCAGGAGGGAGGTGGGGGGGG TCAGCCCCCCACCTGGCCAGCCGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	420	0.0024	227	c.69 others(238): Show c.6925_*6926insTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCC CAGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACC TGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCATCCAGGA GGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCT		ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding					4463		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184508	G G	GTCCGGGA others(220): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCTCCATCCAGGAGGGAGGTGGGGGGGG TCAGCCCCCCACCTGGCCAGCCACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02451.hp1 others(3): Show HG02109.hp2 HG02280.hp2 HG02451.hp1 HG03098.hp1 HG03516.hp1 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0004 a0004c0005t0002 a0004c0005t0004	a0004c0005t0002g0222 a0004c0005t0002g0223 a0004c0005t0004g0032 others(1): Show a0004c0005t0002g0222 a0004c0005t0002g0223 a0004c0005t0004g0032 a0004c0005t0004g0225	6	420	0.0143	227	c.69 others(238): Show c.6925_*6926insTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACC TGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCATCCAGGA GGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCACCCCT		ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding					4463		chr12	TogoVar
ZNF804B_chr7_88754700_89343528	89285747	A A	AAAGTTGG others(220): Show AAAGTTGGGTTTGTAATCAGGACTTCCCTTATCCACAATGCTTTTAAACC TCAAGTCTTGAAAGAAAAGATAGACACCAGCTGCCAGTTTTTGTTTTACA AGAAAACCTGGACAAAGCCTCCACCTCTTTTGCTTTTTAGAAAAAAAAAG CCACAAAGGACAATTATTAGTAAGAAAGAGAAATGAGTACCAGAATTTAA GATAAGAAGGAATAAGTTTACTTTTCTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02486.hp2 others(9): Show HG00639.hp2 HG01243.hp1 HG02486.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02970.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 NA19240.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0012 a0017 a0019	a0001c0001 a0002c0002 a0006c0008 others(5): Show a0001c0001 a0002c0002 a0006c0008 a0006c0036 a0007c0025 a0012c0018 a0017c0029 a0019c0031	a0001c0001t0002 a0002c0002t0001 a0006c0008t0006 others(6): Show a0001c0001t0002 a0002c0002t0001 a0006c0008t0006 a0006c0008t0015 a0006c0036t0006 a0007c0025t0008 a0012c0018t0008 a0017c0029t0007 a0019c0031t0001	a0001c0001t0002g0096 a0002c0002t0001g0031 a0006c0008t0006g0107 others(9): Show a0001c0001t0002g0096 a0002c0002t0001g0031 a0006c0008t0006g0107 a0006c0008t0006g0110 a0006c0008t0006g0111 a0006c0008t0006g0113 a0006c0008t0015g0063 a0006c0036t0006g0119 a0007c0025t0008g0135 a0012c0018t0008g0115 a0017c0029t0007g0051 a0019c0031t0001g0055	12	166	0.0723	227	c.250 others(246): Show c.250-41597_250-41596insAAGTTGGGTTTGTAATCAGGACTTCC CTTATCCACAATGCTTTTAAACCTCAAGTCTTGAAAGAAAAGATAGACAC CAGCTGCCAGTTTTTGTTTTACAAGAAAACCTGGACAAAGCCTCCACCTC TTTTGCTTTTTAGAAAAAAAAAGCCACAAAGGACAATTATTAGTAAGAAA GAGAAATGAGTACCAGAATTTAAGATAAGAAGGAATAAGTTTACTTTTCT G		ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	2/3						chr7	TogoVar
ABCA7_chr19_1035107_1070572	1063162	G G	GCTCCACC others(221): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCAGT GTGGCCCCGCCCCATACTCATGCTGTCTCCACCCACACCATGGCCCCGCC CCATACTCATGCTGGCTCCACCCACACTATGGCCCTGCCCCATACTCATG CTGGCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACC AGTGTGGCCCCGCCCCATACTCATGCTGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0002 a0013c0013t0002	a0013c0013t0002g0030 a0013c0013t0002g0030	1	30	0.0333	228	c.571 others(245): Show c.5713-241_5713-240insTACTCATGCTGGCTCCACCCACACCATG GCCCCGCCCCATACTCATGCTGGCTCCACCAGTGTGGCCCCGCCCCATAC TCATGCTGTCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCT CCACCAGTGTGGCCCCGCCCCATACTCATGCTGTCTCCACCCACACCATG GCCCCGCCCCATACTCATGCTGGCTCCACCCACACTATGGCCCTGCCCCA		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	42/46					INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(221): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATATATAATTATATA TAATATATAATATAATTATATATAATATATAATATATAATATAATTATAT ATATATATAATATATAATATAATTATATAAAATATATAATATATTATATA ATTATATATTATATATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	274	0.0037	228	c.-35 others(239): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATATATATA ATTATATTATATATTATATATTATATATAATTATATTATATATTATATAT AATTATATATATATTATATATAATTATATTATATATTATATATAATTATA TTATATATTATATATAATTATATTATATATTATATATAATTATA		ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding					3200		chr17	TogoVar
ABCC2_chr10_99777640_99857594	99838565	C C	CCACCTCC others(221): Show CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC TACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCCC CCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCCGACCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG04199.hp2 HG00597.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0021 a0001c0001 a0002c0021	a0001c0001t0001 a0002c0021t0003 a0001c0001t0001 a0002c0021t0003	a0001c0001t0001g0308 a0002c0021t0003g0252 a0001c0001t0001g0308 a0002c0021t0003g0252	2	336	0.0060	228	c.361 others(247): Show c.3614+2277_3614+2278insCCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGACTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGC CGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCT CA		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838565	C C	CCCACCTC others(221): Show CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCC CCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCCGACCCCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	336	0.0030	228	c.361 others(247): Show c.3614+2276_3614+2277insCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGG CCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCC TC		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288672	T T	TCTGCTCC others(221): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0168 a0001c0011t0001g0168	1	295	0.0034	228	c.48 others(239): Show c.4891_*4892insGGACACGGGACGGAGCAGAGACACGGGGGACGGA GCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGG GGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGC AGAGACACGGGACGGAGCAGAGACACAGGACGGAGCAGAGACACGGGGGA CGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3718		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(221): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0197 a0001c0010t0001g0197	1	295	0.0034	228	c.43 others(239): Show c.4300_*4301insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3127		chr1	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TACGTATA others(221): Show TACGTATATATATATTATATATATATACGTATATATATTATATATATATA CGTATATATATAATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATATTATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0304 a0002c0004t0006g0304	1	346	0.0029	228	c.497 others(245): Show c.497+7171_497+7172insACGTATATATATATTATATATATATACG TATATATATTATATATATATACGTATATATATAATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATATTATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10						chr11	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACATA others(221): Show TATACATATATATATATTATATATATATACGTATATATATTATATATATA TACGTATATATATAATATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0324 a0002c0004t0015g0324	1	346	0.0029	228	c.497 others(245): Show c.497+7171_497+7172insATACATATATATATATTATATATATATA CGTATATATATTATATATATATACGTATATATATAATATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10						chr11	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACATA others(221): Show TATACATATATATATTATATATATATACGTATATATATTATATATATATA CGTATATATATAATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0306 a0002c0004t0006g0306	1	346	0.0029	228	c.497 others(245): Show c.497+7171_497+7172insATACATATATATATTATATATATATACG TATATATATTATATATATATACGTATATATATAATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10						chr11	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACGTA others(221): Show TATACGTATATATATTATATATATATACGTATATATATTATATATATATA CGTATATATATAATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0309 a0002c0004t0006g0309	1	346	0.0029	228	c.497 others(245): Show c.497+7171_497+7172insATACGTATATATATTATATATATATACG TATATATATTATATATATATACGTATATATATAATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10						chr11	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCA others(221): Show CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 HG03540.hp1 others(1): Show HG02723.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0011 a0005c0005 a0005c0011	a0005c0005t0003 a0005c0011t0003 a0005c0005t0003 a0005c0011t0003	a0005c0005t0003g0166 a0005c0011t0003g0057 a0005c0011t0003g0058 others(1): Show a0005c0005t0003g0166 a0005c0011t0003g0057 a0005c0011t0003g0058 a0005c0011t0003g0059	4	388	0.0103	228	c.33+ others(245): Show c.33+13581_33+13582insACCTCCCTCCCGGATGGGGCGGCTGGCC GGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169769250	G G	GCCCCACC others(221): Show GCCCCACCCCCCCACAACACCCCCAGCCCCGCCGCCCCCAGCCACCCCAG CCCCACCCCTCCAACCTCCGCAGTCCCACGCCCCGCCAACCTCCCCAGCC CCACCCCACCCCACCCCCAGCCACCCCAGCCCCACCCCTCCAACCTCCGC AGTCCCACGCCCCGCCAACCTCCCCAGCCCCACCCCACCCCACCCCCACC CCATCCCCACCCCACCCTCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02922.hp1 HG00639.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	418	0.0048	228	c.200 others(241): Show c.200+70_200+71insTGGGGGTGGGGAGGGTGGGGTGGGGATGGGGT GGGGGTGGGGTGGGGTGGGGCTGGGGAGGTTGGCGGGGCGTGGGACTGCG GAGGTTGGAGGGGTGGGGCTGGGGTGGCTGGGGGTGGGGTGGGGTGGGGC TGGGGAGGTTGGCGGGGCGTGGGACTGCGGAGGTTGGAGGGGTGGGGCTG GGGTGGCTGGGGGCGGCGGGGCTGGGGGTGTTGTGGGGGGGTGGGG		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	1/1						chr3	TogoVar
ADAMTS3_chr4_72275969_72574221	72549962	A A	AAAAAAGG others(221): Show AAAAAAGGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0005	1	182	0.0055	228	c.98- others(243): Show c.98-1079_98-1078insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCCTTTTT		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21						chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113404072	C C	CGAGCCCG others(221): Show CGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTG GGTCTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGG TCTGCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCC CGATCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTC TATGTGGGTCTGCTCCCGACCCTGTTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(103): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0002 a0003 a0004 others(15): Show a0002 a0003 a0004 a0006 a0011 a0015 a0026 a0028 a0030 a0034 a0038 a0039 a0041 a0043 a0045 a0046 a0050 a0051	a0002c0002 a0002c0012 a0002c0024 others(19): Show a0002c0002 a0002c0012 a0002c0024 a0003c0003 a0004c0005 a0004c0008 a0004c0019 a0006c0007 a0011c0018 a0015c0014 a0026c0049 a0028c0039 a0030c0036 a0034c0045 a0038c0041 a0039c0038 a0041c0035 a0043c0031 a0045c0060 a0046c0029 a0050c0023 a0051c0020	a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 others(61): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 a0002c0002t0021 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0072 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0012t0003 a0002c0024t0003 a0003c0003t0008 a0003c0003t0009 a0003c0003t0022 a0003c0003t0023 a0003c0003t0089 a0003c0003t0090 a0003c0003t0093 a0003c0003t0094 a0003c0003t0095 a0003c0003t0096 a0004c0005t0012 a0004c0005t0024 a0004c0005t0099 a0004c0005t0100 a0004c0005t0102 a0004c0005t0103 a0004c0005t0104 a0004c0005t0105 a0004c0005t0106 a0004c0008t0012 a0004c0008t0101 a0004c0008t0107 a0004c0019t0097 a0004c0019t0098 a0006c0007t0013 a0006c0007t0108 a0006c0007t0110 a0011c0018t0002 a0015c0014t0025 a0026c0049t0002 a0028c0039t0086 a0030c0036t0092 a0034c0045t0077 a0038c0041t0040 a0039c0038t0002 a0041c0035t0091 a0043c0031t0070 a0045c0060t0112 a0046c0029t0002 a0050c0023t0071 a0051c0020t0002	a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 others(103): Show a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0128 a0002c0002t0002g0130 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0189 a0002c0002t0002g0198 a0002c0002t0002g0205 a0002c0002t0002g0218 a0002c0002t0002g0224 a0002c0002t0002g0235 a0002c0002t0003g0023 a0002c0002t0003g0057 a0002c0002t0003g0084 a0002c0002t0003g0095 a0002c0002t0003g0143 a0002c0002t0003g0147 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0181 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0238 a0002c0002t0020g0065 a0002c0002t0020g0220 a0002c0002t0021g0136 a0002c0002t0021g0158 a0002c0002t0065g0219 a0002c0002t0066g0190 a0002c0002t0067g0068 a0002c0002t0068g0064 a0002c0002t0069g0058 a0002c0002t0072g0174 a0002c0002t0073g0137 a0002c0002t0074g0120 a0002c0002t0075g0154 a0002c0002t0076g0072 a0002c0002t0078g0232 a0002c0002t0079g0150 a0002c0002t0080g0020 a0002c0002t0081g0172 a0002c0002t0082g0051 a0002c0002t0083g0216 a0002c0002t0084g0188 a0002c0012t0003g0148 a0002c0012t0003g0149 a0002c0012t0003g0234 a0002c0024t0003g0175 a0003c0003t0008g0027 a0003c0003t0008g0105 a0003c0003t0008g0236 a0003c0003t0008g0251 a0003c0003t0008g0252 a0003c0003t0009g0035 a0003c0003t0009g0161 a0003c0003t0022g0191 a0003c0003t0022g0243 a0003c0003t0023g0247 a0003c0003t0023g0250 a0003c0003t0089g0249 a0003c0003t0090g0242 a0003c0003t0093g0248 a0003c0003t0094g0074 a0003c0003t0095g0194 a0003c0003t0096g0193 a0004c0005t0012g0076 a0004c0005t0024g0062 a0004c0005t0024g0071 a0004c0005t0099g0085 a0004c0005t0100g0080 a0004c0005t0102g0254 a0004c0005t0103g0253 a0004c0005t0104g0255 a0004c0005t0105g0063 a0004c0005t0106g0192 a0004c0008t0012g0010 a0004c0008t0012g0011 a0004c0008t0101g0008 a0004c0008t0107g0013 a0004c0019t0097g0055 a0004c0019t0098g0112 a0006c0007t0013g0056 a0006c0007t0013g0213 a0006c0007t0013g0241 a0006c0007t0108g0066 a0006c0007t0110g0246 a0011c0018t0002g0227 a0011c0018t0002g0229 a0015c0014t0025g0060 a0015c0014t0025g0230 a0026c0049t0002g0083 a0028c0039t0086g0171 a0030c0036t0092g0163 a0034c0045t0077g0059 a0038c0041t0040g0061 a0039c0038t0002g0050 a0041c0035t0091g0239 a0043c0031t0070g0018 a0045c0060t0112g0179 a0046c0029t0002g0245 a0050c0023t0071g0014 a0051c0020t0002g0007	106	262	0.4046	228	c.520 others(237): Show c.5209_5210insAGGAACAGGGTCGGGAGCAGACCCACATAGAGGCTC AGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCTCGG GATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCAGAA AGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACATAG AGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGGCTC	p.Ala others(243): Show p.Ala1736_Arg1737insGlnGluGlnGlyArgGluGlnThrHisIle GluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAspAr gAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgGlnT hrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGlnThr HisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArgAla	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5260/9722	5209/5904	1737/1967			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404075	G G	GCCCGTTC others(221): Show GCCCGTTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTGGGT CTGCTCCCAACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCT GCCTCTGAGTCTCTATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCCCGA TCCCGAGCCCATTCCTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTAT GTGGGTCTGCTCCCGACCCTGTTCCTGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp1 HG01074.hp2 others(4): Show HG00099.hp2 HG00280.hp1 HG01074.hp2 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1	a0007 a0010 a0007 a0010	a0007c0009 a0010c0010 a0007c0009 a0010c0010	a0007c0009t0011 a0007c0009t0111 a0010c0010t0010 a0007c0009t0011 a0007c0009t0111 a0010c0010t0010	a0007c0009t0011g0116 a0007c0009t0011g0121 a0007c0009t0011g0173 others(4): Show a0007c0009t0011g0116 a0007c0009t0011g0121 a0007c0009t0011g0173 a0007c0009t0111g0211 a0010c0010t0010g0144 a0010c0010t0010g0145 a0010c0010t0010g0146	7	262	0.0267	228	c.520 others(237): Show c.5206_5207insTTCAGGAACAGGGTCGGGAGCAGACCCACATAGAGG CTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGGCTCGGGATCGGGCT CGGGATCAGGGCTGGGAGCAGACCCAGATAGAGACTCAGAGGCAGACCCA GAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGTTGGGAGCAGACCCACA TAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAACGGG	p.Arg others(243): Show p.Arg1735_Ala1736insValGlnGluGlnGlyArgGluGlnThrHis IleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluTrpAlaArgAs pArgAlaArgAspGlnGlyTrpGluGlnThrGlnIleGluThrGlnArgG lnThrGlnLysGlyAlaGlnGluArgAlaTrpGluGlnGlyTrpGluGln ThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGluArg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5257/9722	5206/5904	1736/1967			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404089	C C	CCCTTTCT others(221): Show CCCTTTCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCAACCCT GTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCTGCCTCTGAGTCTCT ATCTGGGTCTGCTCCCAGCCCTGATCCCGAGCCCGATCCCGAGCCCATTC CTGAGCCCCTTTCTGGGCCTGACCCTGAGCCTCTATGTGGGTCTGCTCCC GACCCTGTTCCTGAGCCCGTTCCTGAGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG01516.hp1 HG02738.hp2 HG00099.hp1 HG01516.hp1 HG02738.hp2	a0003 a0018 a0003 a0018	a0003c0015 a0018c0063 a0003c0015 a0018c0063	a0003c0015t0009 a0003c0015t0087 a0018c0063t0088 a0003c0015t0009 a0003c0015t0087 a0018c0063t0088	a0003c0015t0009g0118 a0003c0015t0087g0030 a0018c0063t0088g0228 a0003c0015t0009g0118 a0003c0015t0087g0030 a0018c0063t0088g0228	3	262	0.0115	228	c.519 others(237): Show c.5192_5193insAGCTCAGGAACGGGCTCAGGAACAGGGTCGGGAGCA GACCCACATAGAGGCTCAGGGTCAGGCCCAGAAAGGGGCTCAGGAATGGG CTCGGGATCGGGCTCGGGATCAGGGCTGGGAGCAGACCCAGATAGAGACT CAGAGGCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGTTG GGAGCAGACCCACATAGAGGCTCAGGGTCAGGCCCAGAAAGG	p.Gly others(243): Show p.Gly1731_Ala1732insAlaGlnGluArgAlaGlnGluGlnGlyArg GluGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGlyAlaGlnGl uTrpAlaArgAspArgAlaArgAspGlnGlyTrpGluGlnThrGlnIleG luThrGlnArgGlnThrGlnLysGlyAlaGlnGluArgAlaTrpGluGln GlyTrpGluGlnThrHisIleGluAlaGlnGlyGlnAlaGlnLysGly	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5243/9722	5192/5904	1731/1967			chr13	TogoVar
AHRR_chr5_316714_443285	394247	C C	CCTCCCCT others(221): Show CCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCC TCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCT GGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTG TCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTT CCTCCCTGTGTGCTGGAGCCCTCTTGTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0221 a0004c0003t0007g0221	1	268	0.0037	228	c.351 others(247): Show c.351+17557_351+17558insGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTG GA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(221): Show AATATATATACATATATAAATATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TATACATATATAAATATATATACATATATAAATATATATATACATATATA AATATATATACATATATAAATATATATACATATATAAATATATATATACA TATATAAATATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0133 a0001c0001t0025g0133	1	462	0.0022	228	c.151 others(245): Show c.151+5564_151+5565insATTTATATATGTATATATATATTTATAT ATGTATATATATATTTATATATGTATATATATTTATATATGTATATATAT TTATATATGTATATATATATTTATATATGTATATATATTTATATATGTAT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATTTATATATGTATATATATATTTATATATGTATATATAT		AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4						chr9	TogoVar
ALMS1_chr2_73380836_73614916	73432463	C C	CAGTGAAT others(221): Show CAGTGAATTTGAGATGGAGCTGACCAAGGGAAAGTAAAAGGATTGGAGGG CAGTTCTGAGAAGTCAGCTCAGGTTAGTGATAATGATTTTATAATATTGT CAGCCTGTATAGAATCTCTGATTTGTTTTTCCTGCTAACACTCAGGAATG GAGATGATGAATTACAGTATTGATCCTTGGTTCAGGAATACATTGAATGG GTATGGTAGAAGGATAGCAGTCAAAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show HG00735.hp1 HG02451.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2	a0008 a0027 a0028 a0008 a0027 a0028	a0008c0008 a0027c0032 a0028c0033 a0008c0008 a0027c0032 a0028c0033	a0008c0008t0001 a0027c0032t0001 a0028c0033t0001 a0008c0008t0001 a0027c0032t0001 a0028c0033t0001	a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 others(5): Show a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0027c0032t0001g0236 a0028c0033t0001g0238	8	248	0.0323	228	c.143 others(245): Show c.1432+172_1432+173insAGTGAATTTGAGATGGAGCTGACCAAGG GAAAGTAAAAGGATTGGAGGGCAGTTCTGAGAAGTCAGCTCAGGTTAGTG ATAATGATTTTATAATATTGTCAGCCTGTATAGAATCTCTGATTTGTTTT TCCTGCTAACACTCAGGAATGGAGATGATGAATTACAGTATTGATCCTTG GTTCAGGAATACATTGAATGGGTATGGTAGAAGGATAGCAGTCAAAGAGA		ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	7/22						chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8052770	T T	TAGATAGT others(221): Show TAGATAGTAGATAGAAGATAGATAGATGATAGATAGTAGATAGTAGACAG ATAGTAGATAGAAGATAGATAGATAGTAGAAGATAGATAGATAGTAGATA GAAGATAGATGATAGATAGTAGATAGATAGTAGACAGATAGTAGACAGAT AGTAGATAGAAGATAGATAGATAGTAGAAGATAGATAGATAGTAGATAGG AGATAGATGATAGTAGATAGATAGTAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG03516.hp1 HG02451.hp1 HG02647.hp1 HG03516.hp1	a0004 a0004	a0004c0006 a0004c0007 a0004c0006 a0004c0007	a0004c0006t0003 a0004c0007t0003 a0004c0006t0003 a0004c0007t0003	a0004c0006t0003g0176 a0004c0006t0003g0197 a0004c0007t0003g0224 a0004c0006t0003g0176 a0004c0006t0003g0197 a0004c0007t0003g0224	3	470	0.0064	228	c.42 others(239): Show c.4205_*4206insAGATAGTAGATAGAAGATAGATAGATGATAGATA GTAGATAGTAGACAGATAGTAGATAGAAGATAGATAGATAGTAGAAGATA GATAGATAGTAGATAGAAGATAGATGATAGATAGTAGATAGATAGTAGAC AGATAGTAGACAGATAGTAGATAGAAGATAGATAGATAGTAGAAGATAGA TAGATAGTAGATAGGAGATAGATGATAGTAGATAGATAGTAGAC		ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding					3637		chr17	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(221): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATTTATATATATAGAATATATATAT AGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	288	0.0035	228	c.70- others(245): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar

Search by Variant

Search

Search Results