Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TTLL8_chr22_50013575_50063298	50029009	A A	ATCCTGAA others(428): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCC CCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACA CACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCA TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACCCTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0203 a0005c0005t0002g0203	1	224	0.0045	435	c.225 others(454): Show c.2251+1420_2251+1421insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTT TACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGA GGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029061	A A	ACCCCCAC others(428): Show ACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCC CATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACAC ACACTCGTAAAGACCCCATCACACCGTCCTGAAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0002 a0009c0018t0002	a0009c0018t0002g0112 a0009c0018t0002g0112	1	224	0.0045	435	c.225 others(454): Show c.2251+1368_2251+1369insGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(428): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATAATATATAATATATATTATTATATAT TATTATATATAATAATATATAATATATATTATTATATATTATTATATATA ATAATATAAAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATAATATAATATATATTATTATATATTATTATAT ATAATATAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0106 a0001c0002t0001g0107	2	238	0.0084	435	c.392 others(452): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTT TATATTATTATATATAATAATATATAATAATATATATTATATATTATTAT ATATAATAATATATAATAATATATATTATATATTATTATATATAATAATA TATAATAATATATATTATATTATATATAATAATATATAATAATATATATT ATATTATATATAATAATATATAATAATATATATTATATTATATATAATAA TATATAATAATATATATTATATTATATATAATAATATATAATAATATATA TTATATTATTATATATAATAATATATAATAATATATATTATATTATTATA TATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(428): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATATAATATATATTATTATATATTATTA TATATAATAATATATAATATAATATATATTATTATATATTATTATATATA ATAATATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATAATATAATATATATTATTATATATTATTATAT ATAATATAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	238	0.0042	435	c.392 others(452): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATT ATTATATATAATAATATATAATAATATATATTATATTATATATAATAATA TATAATAATATATATTATATTATATATAATAATATATAATAATATATATT ATATTATATATAATAATATATAATAATATATATTATATTATATATAATAA TATATAATAATATATATTATATTATATATAATAATATATAATAATATATA TTATATTATTATATATAATAATATATAATAATATATATTATATTATTATA TATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(428): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATATAATATATATTATTATATATTATTA TATATAATAATATATAATATATATTATTATATATTATTATATATAATAAT ATAATATATATTATTATATATAATAATATAATATATATTATTATATATTA TTATATATAATATAATATATATTATTATATATTATTATATATTATTATAT ATAATATAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	238	0.0042	435	c.392 others(452): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATAATAATATATATTATATT ATATATAATAATATATAATAATATATATTATATTATTATATATAATAATA TATATTATATTATTATATATAATAATATATAATAATATATATTATATATT ATTATATATAATAATATATAATAATATATATTATATTATATATAATAATA TATAATAATATATATTATATTATATATAATAATATATAATAATATATATT ATATTATATATAATAATATATAATAATATATATTATATTATATATAATAA TATATAATAATATATATTATATTATATATAATAATATATAATAATATATA TTATATTATTATATATAATAATATATAATAATATATATTATATTATTATA TATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATTA others(428): Show ATATATTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAA TATTTATATATATTTATGTAATATATAATATTTATATATATTTATGTAAT ATATAATATTTATATATTATATTTATGTAATATATATTTATATATTATAT TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATA TATTTATATATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19086.hp1 NA18975.hp1 NA19086.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0123 a0002c0001t0005g0145 a0002c0001t0005g0123 a0002c0001t0005g0145	2	204	0.0098	435	c.213 others(454): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TATATAAATATATATTATATATTACATAAATATAATATATAAATATTATA TATTACATAAATATAATATATAAATATATATTACATAAATATAATATATA AATATTATATATTACATAAATATATATAAATATTATATATTACATAAATA TATATAAATATTATATATTACATAAATATAATATATAAATATTATATATT ACATAAATATAATATATAAATATTATATATTACATAAATATAATATATAA ATATTATATATTACATAAATATAATATATAAATATTATATATTACATAAA TATAATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(428): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATGATCTTAAAGTGCAGAAAAACATAAAACATTATGTTCTTA ACTTCAACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAAGCAATA AAGAAGTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02818.hp2 others(2): Show HG02055.hp1 HG02572.hp2 HG02818.hp2 HG03453.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0278 a0001c0001t0004g0159 a0001c0001t0004g0160 others(2): Show a0001c0001t0001g0278 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162	5	282	0.0177	435	c.156 others(450): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTTTTGAGA CGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGC TTACTGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCTCAGCCT CTCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCTTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGAT TACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467213	G G	GGGGAGGG others(428): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG AGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0008 a0009c0009t0007g0008	1	271	0.0037	435	c.83 others(444): Show c.830_*831insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		704		chrX	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(428): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	341	0.0029	435	c.25 others(444): Show c.259_*260insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		133		chrX	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(428): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG01346.hp1 others(7): Show HG00323.hp1 HG01192.hp1 HG01346.hp1 HG01496.hp2 HG02970.hp1 NA18968.hp1 NA18985.hp2 NA18992.hp1 NA19064.hp1 NA19070.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0003 a0005c0005 a0007c0007 a0003c0003 a0005c0005 a0007c0007	a0003c0003t0002 a0005c0005t0002 a0005c0005t0017 others(1): Show a0003c0003t0002 a0005c0005t0002 a0005c0005t0017 a0007c0007t0002	a0003c0003t0002g0002 a0003c0003t0002g0062 a0003c0003t0002g0090 others(4): Show a0003c0003t0002g0002 a0003c0003t0002g0062 a0003c0003t0002g0090 a0005c0005t0002g0001 a0005c0005t0002g0004 a0005c0005t0017g0001 a0007c0007t0002g0074	10	412	0.0243	435	c.-42 others(446): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT G	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(428): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATGATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATATCATATATATCACATATATATCATATATATCATATATATATCAT ATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	350	0.0029	435	c.-34 others(446): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATGATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATATCATATATATCACATATATATCATATATA TCATATATATATCATATATATGATATATATCATATATATATCATATATAT G	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ABR_chr17_998519_1184981	1117420	T T	TCCCTGAG others(429): Show TCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCC CAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAACCCGA GTTCCTCCCAGCGTTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGC CTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAT CCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCA GCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02135.hp2 HG02071.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0033 a0001c0001t0007 a0001c0001t0033	a0001c0001t0007g0333 a0001c0001t0033g0264 a0001c0001t0007g0333 a0001c0001t0033g0264	2	337	0.0059	436	c.246 others(453): Show c.246+7762_246+7763insTTAACGCTGGGAGGGACTCAGGCTCAGG CAATAACGCTGGGAGGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCA GGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGA GGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAA CGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCT CAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAA CTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAACGCT GGGAGGAACTCGGGTTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAG GCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118489	G G	GTTATCCC others(429): Show GTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCGGAGTTC CTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGC CCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTAT CCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCC AGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGT TATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCC TCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	337	0.0030	436	c.246 others(453): Show c.246+6693_246+6694insTGCTGGGAGGAACTCAGGCTCAGGGTTA ACGCTGGGAGGGACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGC TCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAA CTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCT GGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGG GATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCG GGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGA GGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAA TGCTGGGAGGAACTCCGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTC AGGGATAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118826	T T	TCCTCCCA others(429): Show TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGA GCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTT ATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTC CCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCT GAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCC CTGAGCCTGAGTTCTCCCAGCGTTATCCCTGAGCCTGAGTTCTTCCCAGC GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTAACCCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	337	0.0030	436	c.246 others(453): Show c.246+6356_246+6357insGAACTCAGGCTCAGGGATAACGCTGGGG AGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAA CGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGAGGAACTCAGGCTC AGGGATAACGCTGGGAAGAACTCAGGCTCAGGGATAACGCTGGGAGAACT CAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGG GGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGA TAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG CTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109209972	C C	CACATATA others(429): Show CACATATATGTGTATATATGTGTATACACACACATATATGTGTATACACA CACATATATGTGTATATATACACACATACATGCATGTGTGTATATATGTG TATATATACACACATACGTATGTGTGTATATATGTGTATATATACACACA TACGTATGTGTGTATATATGTGTATATATACACACATACGTATGTGTGTA TATATGTGTATATATACACACATACGTATGTGTGTATATATGTGTATATA TACACACATACGTATGTGTGTATATATGTGTATATATACACACATACGTA TGTGTGTATATATGTGTATATATGTATATATACGTATATACACACACGTG TATATATACGTATATACACACACGTGTATATACGTATATATACACATATA TGTGTATATACACACGTACATATGTGTATATATGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02258.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0001c0032 a0002c0118 a0001c0016 a0001c0032 a0002c0118	a0001c0016t0009 a0001c0032t0004 a0002c0118t0005 a0001c0016t0009 a0001c0032t0004 a0002c0118t0005	a0001c0016t0009g0287 a0001c0032t0004g0291 a0001c0032t0004g0292 others(1): Show a0001c0016t0009g0287 a0001c0032t0004g0291 a0001c0032t0004g0292 a0002c0118t0005g0231	4	308	0.0130	436	c.324 others(453): Show c.3249+620_3249+621insCATATATGTGTATATATGTGTATACACA CACATATATGTGTATACACACACATATATGTGTATATATACACACATACA TGCATGTGTGTATATATGTGTATATATACACACATACGTATGTGTGTATA TATGTGTATATATACACACATACGTATGTGTGTATATATGTGTATATATA CACACATACGTATGTGTGTATATATGTGTATATATACACACATACGTATG TGTGTATATATGTGTATATATACACACATACGTATGTGTGTATATATGTG TATATATACACACATACGTATGTGTGTATATATGTGTATATATGTATATA TACGTATATACACACACGTGTATATATACGTATATACACACACGTGTATA TACGTATATATACACATATATGTGTATATACACACGTACATATGTGTATA TATGTGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289937	T T	TCTGCTCC others(429): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	436	c.36 others(447): Show c.3626_*3627insGGACACGGGACGGAGCAGGGACACGGGACGGAGC AGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGGGGGA CGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACAC GGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAC ACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACTCGGGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGA CGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACAC GGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAG ACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2453		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561776	C C	CAGAGGGG others(429): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGTCGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCTCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0006 a0002c0015t0006	a0002c0015t0006g0085 a0002c0015t0006g0085	1	388	0.0026	436	c.33+ others(453): Show c.33+13434_33+13435insAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGTCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(429): Show GGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAG AGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAA GTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGA ACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGA AGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGG GAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAG GGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAG GGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGTG GGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	2	366	0.0055	436	c.-50 others(447): Show c.-5004_-5003insGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAA GGAGGGAGGGAGGAGAGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGA GAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGA GGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGA AGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGG AAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGG GAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAG GTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGG AGAGGGAGGGAGGTGGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGG GA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(429): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 NA18946.hp1 NA19054.hp1 others(1): Show HG01099.hp1 NA18946.hp1 NA19054.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	418	0.0096	436	c.-10 others(447): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTAT AT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(429): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	436	c.51 others(447): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCTCCCCCCCCTCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCC CCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCC CC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(429): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAGGG AAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAACA AGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAGGG AAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAGGG GGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAA GGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGG AAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGGGA AGAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18950.hp2 others(4): Show HG03490.hp2 HG03492.hp1 NA18950.hp2 NA18957.hp1 NA18989.hp2 NA18993.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0001g0194 a0001c0001t0005g0065 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0194 a0001c0001t0005g0065 a0001c0001t0007g0145 a0001c0001t0008g0147	7	426	0.0164	436	c.-49 others(447): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCCTTCCCTCCC CTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTT TC	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4892		chr9	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(429): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGTGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAGGG AAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAACA AGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAGGG AAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAGGG GGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAA GGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGG AAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGGGA AGAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0148 a0001c0001t0010g0148	1	426	0.0024	436	c.-49 others(447): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCACCCCTTCCCTCCC CTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTT TC	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4892		chr9	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(429): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACGTACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATGTATAAATACGTACATATTTATACATA TATGTATAAATACATATACATATTTATACATATATGTATAAATACATATA CATATTTATACATATATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0029 a0001c0001t0101g0029	1	256	0.0039	436	c.39 others(445): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049487	G G	GGAACACA others(429): Show GGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACA TGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAA CACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGG GCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	308	0.0033	436	c.52 others(447): Show c.5243_*5244insTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCA TGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCT CCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGC CCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTG TTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCC CCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGT TC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2616		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(429): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGC TGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTAT AGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGG GGCTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGG TATAGATATTGGTGTAGAGGCTGTAGTAGGTATAGATATTGGTGGAGAGG CTGTAGTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACATATAG ATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGGC TGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18522.hp1 HG00639.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0004t0005g0041 a0001c0004t0005g0138	2	210	0.0095	436	c.345 others(453): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGT AGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAT TGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGGCTGT AATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGA TATTGGTGTAGAGGCTGTAGTAGGTATAGATATTGGTGGAGAGGCTGTAG TAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACATATAGATATTG GTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGGCTGTAGT AGTGGGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATAGATAT TGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TCCCCTCC others(429): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCT CCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGC CCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCC TGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCC CCCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0173 a0001c0010t0018g0173	1	210	0.0048	436	c.273 others(453): Show c.2734+177_2734+178insCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCC TCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTC CCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCT CCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC TCCCCCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27			chr2	TogoVar
ASB16_chr17_44165704_44184084	44181119	C C	CGCCCGGC others(429): Show CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	362	0.0028	436	c.27 others(447): Show c.2729_*2730insGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCA GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CT	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		2036		chr17	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(429): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACTATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACTATATATGTTGTATATACGTATATACAACATAA ATATATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACG TATATACATATATAAATATATGTTGTATATACGTATATACATATATAAAT ATATGTTGTATATACGTATATACTATATATGTTGTATATATGTATATACA ACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTA TATACGTATATACAACATAAATATATGTTGTATATACGTATATACAACAT AAATATATGTTGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0184 a0001c0006t0020g0184	1	236	0.0042	436	c.676 others(453): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACATATATACAACATATATAGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATAGTATATAC GTATATACAACATATATTTATGTTGTATATACGTATATACAACATATATA GTATATACGTATATACAACATATATTTATATATGTATATACGTATATACA ACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(429): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	436	c.36 others(447): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCG AC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(429): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTGTTTTTTGTTTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGC CCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTG CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAC AGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAGAGG GCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATC TGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02717.hp1 others(8): Show HG02055.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02976.hp1 HG03098.hp1 HG03540.hp2 NA19030.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	11	442	0.0249	436	c.55 others(447): Show c.5514_*5515insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGACAAA GTCTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCAC TGCAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTA TTTTTAGTAGAGAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCT CCTGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACA GG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4971		chr17	TogoVar
C20orf96_chr20_265863_295750	279033	C C	CGGGACGG others(429): Show CGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAG GGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGG CGGGACGGAGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAG GGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGG AGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAG GGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGG CGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAG GGACGGAGGGCGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGG ACGGAGGGCGGGAGGGAGGGAGGGAGGGCGGGACGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	410	0.0024	436	c.465 others(451): Show c.465+138_465+139insTCCGTCCCGCCCTCCCTCCCTCCCTCCCGC CCTCCGTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCCGCCC TCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCC TCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCGTCCCTC CCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCC TCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279065	A A	AGGGCGGG others(429): Show AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGGAGGGC GGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACG GAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGG AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAG GGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGA CGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGG AGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	410	0.0024	436	c.465 others(451): Show c.465+106_465+107insGCCCTCCCTCCCTCCATCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC GCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCTTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCT CCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCC CTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCTTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCG TCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTC CCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C4orf19_chr4_37448925_37598510	37585333	A A	AGGGGAGA others(429): Show AGGGGAGAGGCAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAG AGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGG GAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAATG TTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGAG GGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGG GAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	354	0.0028	436	c.-22 others(453): Show c.-22-3504_-22-3503insCAGAGGTGTTGAGGGAGAGGAGGGGAGA GGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGG AGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGA GGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGT TGAGGGAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGA GAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGG GGGAGAGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(429): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0199 a0004c0006t0001g0199	1	338	0.0030	436	c.300 others(453): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCATGCATAGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(429): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTCTCTC TTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTC TCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0016 a0004c0006t0016	a0004c0006t0016g0191 a0004c0006t0016g0191	1	236	0.0042	436	c.482 others(453): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(429): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTCTCTC TTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTC TCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02165.hp1 HG02165.hp2 others(2): Show HG00544.hp1 HG02165.hp1 HG02165.hp2 NA18612.hp2 NA18947.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0046 a0004c0004t0016	a0001c0001t0002g0117 a0001c0001t0003g0116 a0001c0001t0007g0141 others(2): Show a0001c0001t0002g0117 a0001c0001t0003g0116 a0001c0001t0007g0141 a0001c0001t0046g0115 a0004c0004t0016g0150	5	236	0.0212	436	c.482 others(453): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALN1_chr7_71774491_72417338	72209206	C C	CTCTTTCC others(429): Show CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC GTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	142	0.0070	436	c.244 others(455): Show c.244+69479_244+69480insAGGAAGGAGGGAAGGAGGGAAGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAG GAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGG GAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGG GAAGGAAAGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255280	A A	ATATATAT others(429): Show ATATATATAATTTTATATATATAATTATATATATAATTATATATATATAA TTATATATATAATTATATATATAATTATATATTTTTATATATATAATTAT ATATAATTATATATATATAATTATATATATTATATATATAATTATATATA TATTATATATATAATTTTATATATATATAATTATATATATAATTTTATAT ATATAATTATATATATAATTTTATATATAAAATTATATATATAATTTTAT ATATATATAATTATATATATATAATTTTATATATATAATTATATATATAT AATTTTATATATATAATTATATATATATAATTTTATATATATAATTATAT ATATAATTTTATATATATATAATTATATATAATTTTATATATATATAATT ATATATATAATTATATATATAATTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp1 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0124 a0001c0007t0002g0125 a0001c0007t0002g0124 a0001c0007t0002g0125	2	330	0.0061	436	c.907 others(451): Show c.907+269_907+270insAAATTATATATATAATTATATATATAATTA TATATATAATTATATATATATAAAATTATATATAATTATATATATATAAA ATTATATATATAATTATATATATAAAATTATATATATATAATTATATATA TAAAATTATATATATATAATTATATATATAAAATTATATATATATAATTA TATATATATAAAATTATATATATAATTTTATATATAAAATTATATATATA ATTATATATATAAAATTATATATATAATTATATATATATAAAATTATATA TATAATATATATATAATTATATATATAATATATATAATTATATATATATA ATTATATATAATTATATATATAAAAATATATAATTATATATATAATTATA TATATAATTATATATATATAATTATATATATAATTATATATATAAAATTA TATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	544713	C C	CCACGTCG others(429): Show CCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCT CCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0357 a0001c0002t0003g0357	1	410	0.0024	436	c.-22 others(453): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCC TCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(429): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0015 a0001c0006t0001g0015	1	410	0.0024	436	c.-22 others(453): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(429): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0001 a0002c0048t0001	a0002c0048t0001g0226 a0002c0048t0001g0226	1	410	0.0024	436	c.-22 others(453): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCTCC others(429): Show CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	256	0.0039	436	c.-45 others(457): Show c.-455+14568_-455+14569insCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCC TCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(429): Show CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	256	0.0039	436	c.-45 others(457): Show c.-455+14584_-455+14585insCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(429): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	256	0.0039	436	c.-45 others(457): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(429): Show AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 HG06807.hp2 HG02965.hp1 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0167 a0001c0002t0002g0012 a0001c0002t0002g0167	3	258	0.0116	436	c.403 others(451): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(429): Show AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	258	0.0039	436	c.403 others(451): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(429): Show TTCCCCCTTCCCGCCCTCCCCCTTCCTACCCCCCGCCTTCCTCCCTCCCC TTCCTCCTCCCCCCCTGCCTCCGGCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCCTTCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCATCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCACCTTCCTCCCTTCCCCCTTCCTCCACTTCCC CCTTCCTTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCT CCTCTCTTCCCCCTTCCTCCCTCCTCCTTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	354	0.0028	436	c.69 others(447): Show c.6926_*6927insTCCCCCTTCCCGCCCTCCCCCTTCCTACCCCCCG CCTTCCTCCCTCCCCTTCCTCCTCCCCCCCTGCCTCCGGCCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCCTTC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCATCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCACCTTCCTCCCTTCCCC CTTCCTCCACTTCCCCCTTCCTTCCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTTCCTT TC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CIP2A_chr3_108544864_108594438	108575863	C C	CACGCGTA others(429): Show CACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATACT CATATACATGTGTATATACACGCGTATATATACTCATATACATGTGTATA TACACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATA CTCATATACATGAGTATATACACGCGTATATATACTCATATACATGTGTA TATACACGCGTATATATACTCATATACATGTGTATATACACGCGTATATA TACTCATATACATGTGTGTATACACGCGTATATATACTCATATACATGTG TGTATACACGCGTATATATACTCATATACATGTGTGTATACACGCGTATA CTCATATACATGTGTGTATACACGTATATATACTCATATACATGTGTGTA TATACATGTATATATACTCATATACATGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	372	0.0027	436	c.894 others(451): Show c.894+407_894+408insATATACACACATGTATATGAGTATATATAC ATGTATATACACACATGTATATGAGTATATATACGTGTATACACACATGT ATATGAGTATACGCGTGTATACACACATGTATATGAGTATATATACGCGT GTATACACACATGTATATGAGTATATATACGCGTGTATACACACATGTAT ATGAGTATATATACGCGTGTATATACACATGTATATGAGTATATATACGC GTGTATATACACATGTATATGAGTATATATACGCGTGTATATACTCATGT ATATGAGTATATATACGCGTGTATATACACATGTATATGAGTATATATAC GCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATACACAT GTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTATATAT ACGCGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(429): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0002 a0002c0039t0002	a0002c0039t0002g0271 a0002c0039t0002g0271	1	344	0.0029	436	c.85- others(453): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729648	A A	ATGCGGGC others(429): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGA GCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCAT GAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	272	0.0037	436	c.925 others(451): Show c.925-533_925-532insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCAT GAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGT GTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC GTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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