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
TMEM163_chr2_134450759_134724000	134609092	G G	GACAGACC others(275): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAAC TTTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGACAGACCCCGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	222	0.0045	282	c.323 others(301): Show c.323-57002_323-57001insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCAC CAGCAAAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGG GTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM51_chr1_15148747_15225478	15225218	G G	GGGGGAGG others(275): Show GGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGGGGAGGGGAGGGAGGG GGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAGGAAAGCAGAGG GGATGGGAGGAGGAGGGGGAGGGGACAGGAGGGAAGTGAGGGGGAGGGGA TGTGAGGGGGGAGGGAGAGGGGAGGGGGAAGGGGAGGGTGAGGGAGGGGG AGGGGAGGGAGGGAGTGGGGGGAGGGAGTGGGGGAGGGGAGAGGGGGAGG GGAGGGAGTGGGGGAGAGGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01167.hp1 others(24): Show HG00642.hp2 HG01069.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01433.hp1 HG01928.hp1 HG01975.hp1 HG02071.hp1 HG02148.hp1 HG02165.hp1 HG02572.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03688.hp1 HG04115.hp1 NA18942.hp2 NA18965.hp1 NA18967.hp1 NA18983.hp1 NA19002.hp1 NA19011.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0007c0015	a0001c0001t0004 a0001c0002t0003 a0001c0002t0023 others(4): Show a0001c0001t0004 a0001c0002t0003 a0001c0002t0023 a0001c0002t0041 a0001c0006t0003 a0001c0006t0023 a0007c0015t0004	a0001c0001t0004g0095 a0001c0001t0004g0106 a0001c0001t0004g0107 others(24): Show a0001c0001t0004g0095 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0002t0003g0064 a0001c0002t0003g0068 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0089 a0001c0002t0003g0097 a0001c0002t0003g0119 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0003g0164 a0001c0002t0003g0192 a0001c0002t0003g0249 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0261 a0001c0002t0003g0272 a0001c0002t0023g0262 a0001c0002t0041g0021 a0001c0006t0003g0264 a0001c0006t0023g0252 a0007c0015t0004g0187	27	298	0.0906	282	c.54 others(293): Show c.5475_*5476insGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGG GGAGGGGAGGGAGGGGGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGG GGAGGAAAGCAGAGGGGATGGGAGGAGGAGGGGGAGGGGACAGGAGGGAA GTGAGGGGGAGGGGATGTGAGGGGGGAGGGAGAGGGGAGGGGGAAGGGGA GGGTGAGGGAGGGGGAGGGGAGGGAGGGAGTGGGGGGAGGGAGTGGGGGA GGGGAGAGGGGGAGGGGAGGGAGTGGGGGAGAGGGGGAGGGGAGGGGA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding		4741		chr1	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(275): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTTTTATATATTTATATATAAAT ATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATATATTTATATATAAATATATATTCTTTTATATATATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	348	0.0029	282	c.11 others(295): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(275): Show TTATATATACATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATATATTTATATATAAATATATATTCTTTTATATATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18943.hp2 NA18950.hp1 others(3): Show HG00738.hp1 NA18943.hp2 NA18950.hp1 NA18954.hp2 NA18989.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0017g0273	6	348	0.0172	282	c.11 others(295): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATAAAAGAATATATATTTATATATAAATATATATA TAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(275): Show TTATATATACATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTTTTATATATTTATATATAAAT ATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATATATTTATATATAAATATATATTCTTTTATATATATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG06807.hp2 NA18947.hp2 others(1): Show HG02004.hp2 HG06807.hp2 NA18947.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0047 a0001c0001t0004 a0001c0001t0047	a0001c0001t0004g0063 a0001c0001t0004g0094 a0001c0001t0004g0159 others(1): Show a0001c0001t0004g0063 a0001c0001t0004g0094 a0001c0001t0004g0159 a0001c0001t0047g0089	4	348	0.0115	282	c.11 others(295): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(275): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAAAT ATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA19003.hp1 HG02129.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0036 a0001c0001t0006 a0001c0001t0036	a0001c0001t0006g0098 a0001c0001t0036g0046 a0001c0001t0006g0098 a0001c0001t0036g0046	2	348	0.0058	282	c.11 others(295): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATATATATAAAAGAATATA TATTTATATATAAATATATATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAATATATATTTATATATAAATATATAAAAATATATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATGTATATATAAATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(275): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTTTTATATATTTATATATAAAT ATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATATATTTATATATAAATATATATTCTTTTATATATATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0061	1	348	0.0029	282	c.11 others(295): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATGTATATATAAATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMPRSS12_chr12_50837926_50892884	50872909	C C	CGTATATA others(275): Show CGTATATATATGTACATATATACGTCTATATATGTACATATATACGACTA TATATGTACATATATATGACGTATATATGTACATATATATGACTATATAT GTACATATATGATGTATATATGTACATATATATGACGTATATATGTACAT ATATATGACGTATATATATGTACATATATATGACGTATATATATGTACAT ATATATGACGTATATATATGTACATATATATGACGTATATATATGTACAT ATATATGACGTATATATGTACATATATGACGTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0137 a0002c0002t0003g0142 a0002c0002t0003g0137 a0002c0002t0003g0142	2	390	0.0051	282	c.653 others(301): Show c.653-12337_653-12336insGTATATATATGTACATATATACGTCT ATATATGTACATATATACGACTATATATGTACATATATATGACGTATATA TGTACATATATATGACTATATATGTACATATATGATGTATATATGTACAT ATATATGACGTATATATGTACATATATATGACGTATATATATGTACATAT ATATGACGTATATATATGTACATATATATGACGTATATATATGTACATAT ATATGACGTATATATATGTACATATATATGACGTATATATGTACATATAT GACGTA	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1294443	A A	AGTGTGTC others(275): Show AGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGT GTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTG TCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCT CCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCT TTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTC CCTGCATTTCTACGAAAGCCCGCGTGGCTCACG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01943.hp1 HG01952.hp2 others(4): Show HG01257.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG03704.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0005 a0001c0014t0005 a0001c0001t0005 a0001c0014t0005	a0001c0001t0005g0291 a0001c0001t0005g0297 a0001c0001t0005g0298 others(4): Show a0001c0001t0005g0291 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0014t0005g0302	7	348	0.0201	282	c.183 others(299): Show c.183+1201_183+1202insCGTGAGCCACGCGGGCTTTCGTAGAAAT GCAGGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCA GGGAAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGG AAAGGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAA GGAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGAC ACAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294621	C C	CGTGGCTC others(275): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp1 HG01884.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	348	0.0058	282	c.183 others(299): Show c.183+1023_183+1024insCCGGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAG ACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACA CACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACAC CGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAG CCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294621	C C	CGTGGCTC others(275): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CGGTGTGTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	348	0.0029	282	c.183 others(299): Show c.183+1023_183+1024insCCGGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAG ACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACA CACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACAC CGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAG CCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TP73_chr1_3647516_3741201	3694341	C C	CTCAGCCC others(275): Show CTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCT TCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTC AGCCCCTCCTCCTGCAATCCCACCCATGCATCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	358	0.0028	282	c.186 others(301): Show c.186+11163_186+11164insAGCCCCTCCTCCTGCAATCCCACCCA TGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTC AGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCA CAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCATGC ATCTTC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(275): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCT CCCACAATCCCACCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCA TGCAGCCTCAGCCCCCTCCTCCCACAATCCCAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0055 a0004c0029t0055	a0004c0029t0055g0326 a0004c0029t0055g0326	1	358	0.0028	282	c.186 others(301): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCC TTCCTCCCACAATCCCACCATGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTC AGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(275): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCCTCCCCTGTCTTGAGCCCCTG CTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAG CCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATC CTGGGCCCCCTCCCCTTTCTTGAGCCCCCCTCCCCCACCCTGAGCCCCTT CCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAG CCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0034	a0003c0003t0034g0009 a0003c0003t0034g0009	1	270	0.0037	282	c.31 others(291): Show c.311_*312insCTCCCCCACCCTGAGCCCCCCTCCCCTGTCTTGAGC CCCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTC TTGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCC CCATCCTGGGCCCCCTCCCCTTTCTTGAGCCCCCCTCCCCCACCCTGAGC CCCTTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTC TTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTGTATAC others(275): Show GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTATGTATGTGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01257.hp2 HG01258.hp2 others(1): Show HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0026 a0001c0001t0001g0196 a0001c0001t0001g0197	4	388	0.0103	282	c.-23 others(299): Show c.-23+2460_-23+2461insTATACATATATACACATACATACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACACATG TGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACACA TGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507639	G G	GTATATAC others(275): Show GTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGT GTACACATGTATATACGTATACATGTGTACACATGTATATACGTATACAT GTGTACACATGTATGTATGTGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0331 a0001c0001t0024g0331	1	388	0.0026	282	c.-23 others(299): Show c.-23+2408_-23+2409insTATACATATATACACATACATACATGTG TACACATGTATACGTATATACATGTGTACACATGTATACGTATATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATACA TGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATA CATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3437468	C C	CCCCATCA others(275): Show CCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCTGGATTAATACCCCATCACC CCTGGATTAATCCCCCCATCACCCTGGATTAATCCCAATCACCCTGGATT AATCCCCCATCACCCTGGATTAATACCCCATCACCCCAGGATTAATACCC CATCACCCTGGATTATCCCCCCATCACCCCTGGATTAATCCCCCATCACC CTGAATTAATCCCCCATCACCCCTGGATTAATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0164 a0002c0006t0002g0164	1	344	0.0029	282	c.141 others(301): Show c.1418-6308_1418-6307insATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATCCCCCCAATCACCCCTGGATTAATCCCCCCATCACCC TGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCTGGATT AATCCCAATCACCCTGGATTAATCCCCCATCACCCTGGATTAATACCCCA TCACCCCAGGATTAATACCCCATCACCCTGGATTATCCCCCCATCACCCC TGGATTAATCCCCCATCACCCTGAATTAATCCCCCATCACCCCTGGATTA ATACCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(275): Show TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATACATACATATACACGCGTGCGTATACATACATATACACG CGTGCGTATACACATATACACGCGTGCGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	334	0.0030	282	c.-48 others(293): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTGTATACGCACGC GTGTATATGTATGTATACGCACGCGTGTATATGTATGTATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(275): Show TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATACATACATATACACG CGTGCGTATACACATATACACGCGTGCGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18987.hp1 NA18985.hp1 NA18987.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0002 a0005c0011t0002 a0001c0001t0002 a0005c0011t0002	a0001c0001t0002g0179 a0005c0011t0002g0239 a0001c0001t0002g0179 a0005c0011t0002g0239	2	334	0.0060	282	c.-48 others(293): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTGTATACGCACGC GTGTATATGTATGTATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TUBE1_chr6_112065663_112092482	112068826	C C	CTGGTCCT others(275): Show CTGGTCCTGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02055.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	2	420	0.0048	282	c.25 others(293): Show c.2585_*2586insTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAGGACCA	TUBE1	ENSG00000074935.14	transcript	ENST00000368662.10	protein_coding		1836		chr6	TogoVar
UBE2U_chr1_64198623_64272368	64201455	C C	CGTCCGGG others(275): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCA TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	330	0.0030	282	c.-25 others(293): Show c.-2596_-2595insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCTGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2167		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201455	C C	CGTCCGGG others(275): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGAAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA18522.hp1 HG02723.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0183 a0001c0001t0002g0186	2	330	0.0061	282	c.-25 others(293): Show c.-2596_-2595insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGAAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2167		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201455	C C	CGTCCGGG others(275): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG02572.hp1 NA19030.hp1 HG01070.hp2 HG02572.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281	3	330	0.0091	282	c.-25 others(293): Show c.-2596_-2595insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2167		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201455	C C	CGTCCGGG others(275): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00639.hp1 others(32): Show HG00099.hp1 HG00423.hp1 HG00639.hp1 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01258.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG06807.hp1 NA18963.hp2 NA18979.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp2 NA19057.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 a0001c0001 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0009t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0006 a0002c0003t0002	a0001c0001t0001g0030 a0001c0001t0002g0184 a0001c0001t0002g0200 others(32): Show a0001c0001t0001g0030 a0001c0001t0002g0184 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0009t0006g0168 a0002c0003t0002g0185 a0002c0003t0002g0307	35	330	0.1061	282	c.-25 others(293): Show c.-2596_-2595insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2167		chr1	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(275): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTACGCATACACACACATA TGTGTGTGTATGCATACACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	320	0.0031	282	c.-38 others(293): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAC GCATACACACACATATGTGTGTGTATGCATACACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(275): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	320	0.0031	282	c.-38 others(293): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACACATATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5369988	T T	TGCGTGTA others(275): Show TGCGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTG TGTGTATGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTG TATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTA TATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCG TCTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATATATGTGTG TATATATGTGTGTGTATATGTGTGTGTATATGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 NA18966.hp2 HG01123.hp1 HG01496.hp1 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0154 a0002c0002t0003g0018 a0002c0002t0003g0154	3	468	0.0064	282	c.-6- others(297): Show c.-6-3726_-6-3725insCGTGTATATGTGTGTGTATATGTGTGTGTA TATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATATG CGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTG TGTATATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTG TATGTGTGTGTATATGCGTCTGTATATGCGTGTGTATATGCGTGTGTATG TGTGTGTATATATGTGTGTATATATGTGTGTGTATATGTGTGTGTATATG CG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
URAD_chr13_27972717_27993693	27990968	T T	TGTATAGG others(275): Show TGTATAGGTATATGTATATGTATATGTATATGTATATGTATATGTATAGG TATAGGTATATGTATATGTATATGTATAGGTGTAGGTGTAGGTATATGTA TAGGTATATGTATATGTATAGGTATATGTATATGTATAGGTATAGGTGTA GGTATATGTATAGGTATATGTATATGTATAGGTATATGTATATGTATAGG TATAGGTGTAGGTATATGTATATGTATAGGTGTAGGTATATGTATAGGTA TAGGTATAGGTATATGTATATGTATAGGTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	428	0.0023	282	c.-23 others(293): Show c.-2332_-2331insCTACACCTATACATATACATATACCTATACCTAT ACCTATACATATACCTACACCTATACATATACATATACCTACACCTATAC CTATACATATACATATACCTATACATATACATATACCTATACATATACCT ACACCTATACCTATACATATACATATACCTATACATATACATATACCTAT ACATATACCTACACCTACACCTATACATATACATATACATATACCTATAC CTATACATATACATATACATATACATATACATATACATATACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2276		chr13	TogoVar
VCX3B_chrX_8459830_8471510	8466813	G G	GGGGAGGG others(275): Show GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0045 a0002c0002t0029g0045	1	271	0.0037	282	c.43 others(291): Show c.430_*431insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		304		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(275): Show TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0043 a0043	a0043c0044 a0043c0044	a0043c0044t0002 a0043c0044t0002	a0043c0044t0002g0006 a0043c0044t0002g0006	1	271	0.0037	282	c.79 others(291): Show c.797_*798insGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
WDR70_chr5_37374318_37758435	37688693	T T	TAAAAATA others(275): Show TAAAAATAAGCAAATTTCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(47): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01243.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG03017.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18956.hp1 NA18960.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18998.hp1 NA19010.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0053 others(47): Show a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0004g0005	50	242	0.2066	282	c.109 others(301): Show c.1093-8946_1093-8945insCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATAAGC AAATTT	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
XRCC2_chr7_152639776_152681141	152674704	T T	TAATATAT others(275): Show TAATATATATTTTAAAATATATTTATATATAATATATTTTTAAATATATA TTATATATATTTTAAAATATATTTATATATATTTTTAAATATATATTATA TATATTTTTAAATATATATTATATATAATATATATTTTAAAATATATTAT ATAAATATATTTTAAAATATGTATTATATATATTTTTAAATATATATTAT ATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTAAATA TATATTATATATAAATATATTTTTAAATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0209 a0001c0001t0022g0209	1	394	0.0025	282	c.39+ others(297): Show c.39+1336_39+1337insTATATATTTAAAAATATATTTATATATAAT ATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTTA TATATAATATATATTTAAAAATATATATAATACATATTTTAAAATATATT TATATAATATATTTTAAAATATATATTATATATAATATATATTTAAAAAT ATATATAATATATATTTAAAAATATATATAAATATATTTTAAAATATATA TAATATATATTTAAAAATATATTATATATAAATATATTTTAAAATATATA TT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZBED4_chr22_49848844_49895080	49879796	T T	TTTTTTGA others(275): Show TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02300.hp1 HG01975.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0116 a0001c0001t0001g0122	2	316	0.0063	282	c.-32 others(301): Show c.-329-3538_-329-3537insTTTTTGAGACGGAGTCTCGCTCTGTT GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCAC	ZBED4	ENSG00000100426.7	transcript	ENST00000216268.6	protein_coding	1/1			chr22	TogoVar
ZNF365_chr10_62369369_62407450	62370986	T T	TCACATAT others(275): Show TCACATATGATATATATCATATATATCACATGTGATATATATCATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCATATGTGATATATATCATATATATC ATATATCATATATATCATATATCATATATCATATATATCATATATCATAT ATATCATATGTGATATATATGATATATATGATATATATCATATATGATAT ATATGATATATCACATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	350	0.0029	282	c.-34 others(293): Show c.-3486_-3485insCACATATGATATATATCATATATATCACATGTGA TATATATCATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCATATGTGATA TATATCATATATATCATATATCATATATATCATATATCATATATCATATA TATCATATATCATATATATCATATGTGATATATATGATATATATGATATA TATCATATATGATATATATGATATATCACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3382		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370986	T T	TCACATAT others(275): Show TCACATATGATATATATCATATATATCACATGTGATATATATCATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ATATGTGATATATAGCATATATATCATATATCATATATATCATATATATC ATATATCATATATATCATATATCATATATCATATATATCATATATCATAT ATATCATATGTGATATATATGATATATATGATATATATCATATATGATAT ATATGATATATCACATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	350	0.0029	282	c.-34 others(293): Show c.-3486_-3485insCACATATGATATATATCATATATATCACATGTGA TATATATCATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCATATGTGATATATAGCATATATATCATATATCATA TATATCATATATATCATATATCATATATATCATATATCATATATCATATA TATCATATATCATATATATCATATGTGATATATATGATATATATGATATA TATCATATATGATATATATGATATATCACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3382		chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(275): Show CCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCTCCCT TCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCTTCCTTTCC TTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCC TCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTC TTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCT TCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0024 a0003c0008t0004g0024	1	356	0.0028	282	c.-11 others(293): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGAGAAAAGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF710_chr15_89996324_90087191	90008426	G G	GTATATAT others(275): Show GTATATATATATACATATATATATATACATATATATATACATATATATAT ACATATATATATACATATATATATACATATATATATACATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATATACATAT ATATATACATATATATATATACATATATATATACATATATATATACATAT ATATATACATATATATATATACATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0263 a0001c0001t0005g0263	1	282	0.0036	282	c.-29 others(299): Show c.-29+6824_-29+6825insCATATATATATATACATATATATATACA TATATATATACATATATATATACATATATATATACATATATATATACATA TATATATACATATATATATACATATATATATACATATATATATACATATA TATATACATATATATATACATATATATATACATATATATATACATATATA TATACATATATATATACATATATATATATACATATATATATACATATATA TATACATATATATATACATATATATATATACATATATATATATATATATA TATA	ZNF710	ENSG00000140548.10	transcript	ENST00000268154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF821_chr16_71854685_71889182	71886848	C C	CCACAAAT others(275): Show CCACAAATCTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	376	0.0027	282	c.-30 others(293): Show c.-3082_-3081insTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTAGATTTGTG	ZNF821	ENSG00000102984.15	transcript	ENST00000425432.6	protein_coding		2667		chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(275): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTATATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATATATATAAATATAT ATATATTTCTATATATATAAATATATATATATTTCTATTTATATATATAT ATATATTTATATATATATAAATATATATATATTTATATATATATAAAATA TATATTTATATATATATAAAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	400	0.0025	282	c.532 others(297): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTATATATATATAAATA TATATATATATATAAATAGAAATATATATATATTTATATATATAGAAATA TATATATATTTATATATATAGAAATATATATATATTTATATATATAGAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATAGA AATATATATATATTTATATATATAGAAATATATATATTTATATATATATA GA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCA7_chr19_1035107_1070572	1049828	C C	CACCACTC others(276): Show CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCC CCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAAC CCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAAC CCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAA CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA GCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0022 a0016c0015t0001g0022	1	30	0.0333	283	c.255 others(300): Show c.2552+404_2552+405insCGTGAACCCCCCACCACTCCCTCCCTGT GAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC CTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCC CCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC CCTGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT CCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCGACCACTCC CTCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATATATA others(276): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATT TATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAA TATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	283	c.-14 others(294): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTT ATATATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAA ATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(276): Show ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTATATATATTTTATATATAGTATATATACTGTATAT ACTATATATATTTTATATATAGTATATATACTGTATATACTATATATATT TTATATATATTTTATATATAGTATGTACTCTATATATTTTATATATAGTA TGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATAT AGTATGTACTATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0006 a0001c0003t0015g0006	1	182	0.0055	283	c.505 others(302): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATATAAAATATATATAGTATATACAGTATATATACTATATATAAAATA TATATAGTATATACAGTATATATACTATATATAAAATATATATAGTATAT ACAGTATATATACTATATATAAAATATATATAGTATATACAGTATATATA CTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(276): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATTTATATATATAGAATATATATAT AGAATATATATTTATATATATAGAATATATATATAGAATATATATTTATA TATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	288	0.0035	283	c.70- others(300): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATAAATATATATTCTATATATATATTCTATATATATAAATATA TATTCTATATATATATTCTATATATATAAATATATATTCTATATATATAT TCTATATATATAAATATATATTCTATATATATATTCTATATATATAAATA TATATTCTATATATATATTCTATATATATAAATATATATTCTATATATAT ATTCTATATATATAAATATATATTCTATATATATATTCTATATATATAAA TATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(276): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATTTATATATATAGAATATATA TATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTT ATATATATAGAATATATATATAGAATATATATTTATATATATAGAATATA TATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	288	0.0035	283	c.70- others(300): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATAAATA TATATTCTATATATATATTCTATATATATAAATATATATTCTATATATAT ATTCTATATATATAAATATATATTCTATATATATATTCTATATATATAAA TATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(276): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATTTAT ATATATAGAATATATATATAGAATATATATTTATATATATAGAATATATA TATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTT ATATATATAGAATATATATATAGAATATATATTTATATATATAGAATATA TATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 NA20752.hp1 others(1): Show HG01099.hp1 HG01168.hp1 NA20752.hp1 NA20752.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0011c0014t0005	a0001c0001t0001g0097 a0001c0001t0004g0024 a0001c0001t0005g0034 others(1): Show a0001c0001t0001g0097 a0001c0001t0004g0024 a0001c0001t0005g0034 a0011c0014t0005g0123	4	288	0.0139	283	c.70- others(300): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATAAATATATATTCTATATATAT ATTCTATATATATAAATATATATTCTATATATATATTCTATATATATAAA TATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANO7_chr2_241183677_241230976	241218126	G G	GGGCGGGG others(276): Show GGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGG CGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTAGGGACGGGGCGGG GGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGC AGGGGCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGC GCAGGGGCGGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGG GGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0102 a0001c0003t0011g0102	1	396	0.0025	283	c.217 others(300): Show c.2179-113_2179-112insGGCGGGGGGGCAGCGGGGGCGCGCAGGG GCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGG GGCGCGTAGGGACGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGG CGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGG GGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGGCGGGGGGCAGCGGGGG CGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGG GGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
ANO9_chr11_412938_447011	431500	C C	CGTGGGTA others(276): Show CGTGGGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTA TCTGGGGGCTTCCGCGGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGC GTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCGTGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	286	0.0035	283	c.539 others(298): Show c.539+193_539+194insAGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCACGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGC AGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCCGCGGAAGCCCC CAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCCCCCAGATACC CAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431500	C C	CGTGGGTA others(276): Show CGTGGGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGTCTCCCGTGGGTATCTGGGGGC GTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCGTGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	286	0.0035	283	c.539 others(298): Show c.539+193_539+194insAGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCGCGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCACGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGC AGACGCCCCCAGATACCCACGGGAGACCCCCACACCCCCGCGGAAGCCCC CAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCCCCCAGATACC CAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431500	C C	CGTGGGTA others(276): Show CGTGGGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCG TCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCGTGGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	286	0.0035	283	c.539 others(298): Show c.539+193_539+194insAGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCCACGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCG CAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCGCGGAAGCCCC CAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCCCCCAGATACC CAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431500	C C	CGTGGGTA others(276): Show CGTGGGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCG TCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCGTGGGGG TGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	286	0.0035	283	c.539 others(298): Show c.539+193_539+194insAGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC CACACCCCCACGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCG CAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCGCGGAAGCCCC CAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCCCCCAGATACC CAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar

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