Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACAP3_chr1_1287391_1312930	1289633	T T	TCCCCCGT others(245): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	295	0.0034	252	c.39 others(263): Show c.3930_*3931insGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGA GACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2757		chr1	TogoVar
ACR_chr22_50733204_50750339	50748915	C C	CGAGGGGT others(245): Show CGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTGGACAAT CTGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAT CCGAGGGGTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGACAT CCGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACAT CCGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAA TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00609.hp2 others(24): Show HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02148.hp2 HG02280.hp2 HG02523.hp2 NA18612.hp1 NA18955.hp2 NA18957.hp1 NA18991.hp1 NA19005.hp2 NA19070.hp1 NA19084.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 a0001c0001 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0001c0001t0001 a0001c0015t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0048 a0001c0001t0001g0051 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0015t0001g0004 a0002c0002t0001g0001 a0002c0002t0001g0004	27	464	0.0582	252	c.37 others(263): Show c.3708_*3709insGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGT GCCCACCTGGACAATCTGAGGGGTGTGCCCACCTAGACATCCGAGGGGTG TGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAGGAGTG TGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGGGTG TGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAGGGGTG TGCCCACCTAGACAATCT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3577		chr22	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATATATA others(245): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATT TATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	252	c.-14 others(263): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTT ATATATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAA ATATAAATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ADAM12_chr10_126007391_126393477	126113565	C C	CGGGCGGA others(245): Show CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCG TGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0188 a0001c0002t0019g0188	1	252	0.0040	252	c.604 others(269): Show c.604-3726_604-3725insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGA CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCTGGCTAATTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113565	C C	CGGGCGGA others(245): Show CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCG TGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02723.hp2 others(5): Show HG02145.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0021 others(1): Show a0001c0002 a0001c0004 a0001c0021 a0002c0001	a0001c0002t0017 a0001c0004t0023 a0001c0021t0021 others(3): Show a0001c0002t0017 a0001c0004t0023 a0001c0021t0021 a0002c0001t0001 a0002c0001t0017 a0002c0001t0018	a0001c0002t0017g0013 a0001c0004t0023g0014 a0001c0004t0023g0173 others(5): Show a0001c0002t0017g0013 a0001c0004t0023g0014 a0001c0004t0023g0173 a0001c0021t0021g0076 a0001c0021t0021g0077 a0002c0001t0001g0007 a0002c0001t0017g0156 a0002c0001t0018g0008	8	252	0.0318	252	c.604 others(269): Show c.604-3726_604-3725insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGA CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(245): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01169.hp2 others(3): Show HG00438.hp1 HG00544.hp2 HG01169.hp2 HG06807.hp1 NA18957.hp1 NA19002.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0001c0001t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0117 a0002c0002t0001g0086 a0002c0002t0001g0087 others(3): Show a0001c0001t0001g0117 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0103 a0003c0005t0001g0004 a0003c0005t0001g0148	6	226	0.0266	252	c.137 others(273): Show c.1373-18369_1373-18118dupGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179313976	T T	TCACACCG others(245): Show TCACACCGAGACAGAGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGG GGACGCACACGCATTCACACTCGTGCACACACACACTCACACCGAGACAG AGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCAT TCACACTCATGCACACACACACACCGAGACAGAGAAGGGCCTGGCCGGAG CAGGGGTGTCAGCAGAGGGGACGCACATGCATTCACACTCATGCACACAC TCA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0010 a0010	a0010c0036 a0010c0036	a0010c0036t0004 a0010c0036t0004	a0010c0036t0004g0063 a0010c0036t0004g0063	1	276	0.0036	252	c.534 others(271): Show c.534+29790_534+29791insTGAGTGTGTGCATGAGTGTGAATGCA TGTGCGTCCCCTCTGCTGACACCCCTGCTCCGGCCAGGCCCTTCTCTGTC TCGGTGTGTGTGTGTGCATGAGTGTGAATGCGTGTGCGTCCCCTCTGCTG ACACCCCTGCTCCGGCCAGGCCCTCCTCTGTCTCGGTGTGAGTGTGTGTG TGCACGAGTGTGAATGCGTGTGCGTCCCCTCTGCTGACACCCCTGCTCCG GCCAGGCCCTCCTCTGTCTCGGTGTG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1327023	A A	ACAGCGCC others(245): Show ACAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCCCAGCGCCTCCCCA CTGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTC CCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCG CCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCAC AGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACG GCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	106	0.0094	252	c.107 others(273): Show c.1077+36004_1077+36005insGGCCGTGGGGAGGCGCTGGGCAGT GGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGG CAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGC TGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAG GCGCTGGGCAGTGGGGAGGCGCTGTGCAGTGGGGAGGCGCTGGGCCGTGG GGAGGCGCTGTGCCGTGGGGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340380	C C	CGCCCCAC others(245): Show CGCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACGCCCCAC AGCGGCAATAACCGGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAA TAACCAGCATCCACCAGAGAACCACACGCCCCACAGCGGCAATAACCGGC ATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCGGCATCCACCA GAGAACCACACACCCCACAGTGGCAATAACCGGCATCCACCAGAGAACCA CGT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	106	0.0094	252	c.107 others(273): Show c.1077+22647_1077+22648insACGTGGTTCTCTGGTGGATGCCGG TTATTGCCACTGTGGGGTGTGTGGTTCTCTGGTGGATGCCGGTTATTGCC GCTGTGGGGCGCGTGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGG GCGTGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGGCGCGTGG TTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCGTGTGGTTCTCTGG TGGATGCCGGTTATTGCCGCTGTGGGGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340380	C C	CGCCCCAC others(245): Show CGCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACGCCCCAC AGCGGCAATAACCGGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAA TAACCGGCATCCACCAGAGAACCACACGCCCCACAGCGGCAATAACCGGC ATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCGGCATCCACCA GAGAACCACACACCCCACAGTGGCAATAACCGGCATCCACCAGAGAACCA CGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG02083.hp1 others(2): Show HG00408.hp2 HG00438.hp1 HG02083.hp1 HG02622.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0016 a0001c0001 a0002c0002 a0002c0016	a0001c0001t0001 a0001c0001t0023 a0002c0002t0007 others(2): Show a0001c0001t0001 a0001c0001t0023 a0002c0002t0007 a0002c0002t0008 a0002c0016t0006	a0001c0001t0001g0069 a0001c0001t0023g0023 a0002c0002t0007g0001 others(2): Show a0001c0001t0001g0069 a0001c0001t0023g0023 a0002c0002t0007g0001 a0002c0002t0008g0058 a0002c0016t0006g0010	5	106	0.0472	252	c.107 others(273): Show c.1077+22647_1077+22648insACGTGGTTCTCTGGTGGATGCCGG TTATTGCCACTGTGGGGTGTGTGGTTCTCTGGTGGATGCCGGTTATTGCC GCTGTGGGGCGCGTGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGG GCGTGTGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCGCGTGG TTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCGTGTGGTTCTCTGG TGGATGCCGGTTATTGCCGCTGTGGGGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340610	C C	CGGCATCC others(245): Show CGGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCGGCATCC ACCAGAGAACCACACACCCCACAGCGGCAATAACCAGCATCCACCAGAGA ACCACGCGCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACA CCCCACAGCGGCAATAACCAGCATCCACCAGAGAACCACGTGCCCCACAG CGGCAATAACCGGCATCCACCAGAGAACCACACACCCCACAGCGGCAATA ACT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0086 a0002c0002t0065g0086	1	106	0.0094	252	c.107 others(273): Show c.1077+22417_1077+22418insAGTTATTGCCGCTGTGGGGTGTGT GGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCACGTGGTTCTCT GGTGGATGCTGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTGGTGGATG CCGGTTATTGCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCTGGTTAT TGCCGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCCGGTTATTGCCGCTG TGGGGCGCGTGGTTCTCTGGTGGATGCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111144	T T	TCTCCTAA others(245): Show TCTCCTAATCCCTCCAGACCACCTGCCCCCCCGGGAACCACCCCTCCTAA TCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCA GACAACCTGCCCCCCCGGGAACCACCCCTCCTAATCCCACCAGACAACCT GCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACC TCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0065 a0008c0013t0065	a0008c0013t0065g0257 a0008c0013t0065g0257	1	368	0.0027	252	c.401 others(269): Show c.401+8313_401+8314insTCCAGACCACCTGCCCCCCCGGGAACCA CCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCT AATCCCTCCAGACAACCTGCCCCCCCGGGAACCACCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGGCACCTCCCTCCTAATCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111247	A A	AACCTGCC others(245): Show AACCTGCCCGCCATGAGCACCTCCCTCCTAATGCCTCCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAG ACC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0320 a0001c0002t0007g0320	1	368	0.0027	252	c.401 others(269): Show c.401+8413_401+8414insGCCATGAGCACCTCCCTCCTAATGCCTC CAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATGCCTCCAGACCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111263	G G	GCACCTCC others(245): Show GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCGCCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	368	0.0027	252	c.401 others(269): Show c.401+8439_401+8440insTCCAGACCACCTGCCCGCCACAGACACC TCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCT AATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGACACCTCCCTCCTAATCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111492	A A	ACCAGACC others(245): Show ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGG CACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0020 a0001c0002t0008g0020	1	368	0.0027	252	c.401 others(269): Show c.401+8656_401+8657insCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCA CCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111555	G G	GGGCACCT others(245): Show GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0129 a0001c0002t0033g0129	1	368	0.0027	252	c.401 others(269): Show c.401+8714_401+8715insGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111599	A A	ACACCTCC others(245): Show ACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0017 a0001c0002t0008g0017	1	368	0.0027	252	c.401 others(269): Show c.401+8782_401+8783insCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCA CCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111786	T T	TCCAGACC others(245): Show TCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0255 a0002c0005t0005g0255	1	368	0.0027	252	c.401 others(269): Show c.401+8964_401+8965insGGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111835	C C	CACCTGCC others(245): Show CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CGCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCCCCAG ACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0170 a0001c0003t0004g0170	1	368	0.0027	252	c.401 others(269): Show c.401+9006_401+9007insAGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCCCCAGACAACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111851	G G	GCACCTCC others(245): Show GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTG CCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCAC AGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	368	0.0027	252	c.401 others(269): Show c.401+9050_401+9051insGCACCTCCCTCCTAATCCCACCAGACAA CCTGCCCGCCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACAGACACCTCCCT CCTAATCCCTCCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111870	T T	TCCAGACC others(245): Show TCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATC CCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	368	0.0027	252	c.401 others(269): Show c.401+9048_401+9049insGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111976	G G	GGCACCTC others(245): Show GGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCGCCACAGACACCTCCCTCCTAA TCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCA GACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCGCCG TGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0275 a0001c0001t0057g0275	1	368	0.0027	252	c.401 others(269): Show c.401+9150_401+9151insCCCTCCAGACCACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCGCCACAGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CGCCGTGAGCACCTCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRE3_chr19_14614117_14679844	14620388	A A	ACATGTAT others(245): Show ACATGTATATATGAATATATATGTATATTCATGTATATATGAATATATAT GTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAAT ATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATAT ATGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCAT GTATATATGAATATATATGTATATTCATGTATATATGAATATATATGTAT ATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02148.hp2 HG03239.hp1 others(3): Show HG00323.hp1 HG02148.hp2 HG03239.hp1 HG03710.hp2 NA18961.hp2 NA19000.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0002 a0004c0004 others(1): Show a0001c0001 a0003c0002 a0004c0004 a0006c0008	a0001c0001t0001 a0003c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0003c0002t0001 a0004c0004t0001 a0006c0008t0001	a0001c0001t0001g0027 a0001c0001t0001g0115 a0003c0002t0001g0238 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0115 a0003c0002t0001g0238 a0004c0004t0001g0339 a0004c0004t0001g0347 a0006c0008t0001g0049	6	372	0.0161	252	c.192 others(269): Show c.1921-918_1921-917insAATATACATATATATTCATATATACATG AATATACATATATATTCATATATACATGAATATACATATATATTCATATA TACATGAATATACATATATATTCATATATACATGAATATACATATATATT CATATATACATGAATATACATATATATTCATATATACATGAATATACATA TATATTCATATATACATGAATATACATATATATTCATATATACATGAATA TACATATATATTCATATATACATG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620455	T T	TGAATATA others(245): Show TGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCATG TATATATGAATATATATGTATATTCATGTATATATGAATATATATGTATA TTCATGTATATATGAATATATATGTATATTCATGTATATATGAATATATA TGTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAA TATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATA TAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0214 a0004c0004t0001g0214	1	372	0.0027	252	c.192 others(269): Show c.1921-985_1921-984insGTATATACATGAATATACATATATATTC ATATATACATGAATATACATATATATTCATATATACATGAATATACATAT ATATTCATATATACATGAATATACATATATATTCATATATACATGAATAT ACATATATATTCATATATACATGAATATACATATATATTCATATATACAT GAATATACATATATATTCATATATACATGAATATACATATATATTCATAT ATACATGAATATACATATATATTC	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113435360	G G	GTGTAGGG others(245): Show GTGTAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGG TGAATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATA GGTGTACCCCGGGACCCAGCACCCAGGCACAGAGTGAACATAGGTGTACC CTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACC CGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCC ACA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0051 a0051	a0051c0020 a0051c0020	a0051c0020t0002 a0051c0020t0002	a0051c0020t0002g0007 a0051c0020t0002g0007	1	262	0.0038	252	c.380 others(269): Show c.380-1494_380-1493insTGTGGATGCTGGGTCCCGGGGTACACCT ATGTTCACCCTGCGCCTGGGTGCCGGGTCCCGGGGTACACCTATGTTCAC TCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCACTCTGTGCC TGGGTGCTGGGTCCCGGGGTACACCTATGTTCACTCTACATGTGGGTGCT GGGTCCCGGGGTACACCTGTATTCACCCTGCACCTGGGTGCCGGGTCCCG GGGTACACCTATGTTCACCCTACA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113435542	T T	TAGGTGTA others(245): Show TAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAATACAGGTGTA CCCCGGGACCCAGCACCCACATGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCACCCAGGCACAGAGTGAACATAGGTGTACCCTGGGACCCAGCAC CCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGCGC AGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAA CAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0077 a0034c0045t0077	a0034c0045t0077g0059 a0034c0045t0077g0059	1	262	0.0038	252	c.380 others(269): Show c.380-1676_380-1675insGTGTTCACTCTACGTGTGGATGCTGGGT CCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGGGTCCCGGGGT ACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTAT GTTCACTCTGTGCCTGGGTGCTGGGTCCCGGGGTACACCTATGTTCACTC TACATGTGGGTGCTGGGTCCCGGGGTACACCTGTATTCACCCTGCACCTG GGTGCCGGGTCCCGGGGTACACCT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436080	A A	AGTGAACA others(245): Show AGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACA CAAGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTA CCCCGGGACCCAGAACCCAGGCACAGAGTGAACATAGGTGTACCCTGGGA CCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCAT CCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGC AGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0258 a0001c0001t0045g0258	1	262	0.0038	252	c.380 others(269): Show c.380-2214_380-2213insCCTGCGCCTGGGTGCCGGGTCCCGGGGT ACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTAT GTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCACTC TGTGCCTGGGTTCTGGGTCCCGGGGTACACCTATGTTCACTCTACACCTG GGTGCTGGGTCCCGGGGTACACTTGTGTTCACTCTACGTGTGGATGCTGG GTCCCGGGGTACACCTATGTTCAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436080	A A	AGTGAACA others(245): Show AGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACA CAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTA CCCCGGGACCCAGAACCCAGGCACAGAGTGAACATAGGTGTACCCTGGGA CCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCAT CCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGC AGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00544.hp2 others(104): Show HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18950.hp2 NA18952.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18983.hp1 NA18983.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(22): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0015 a0020 a0021 a0023 a0024 a0025 a0026 a0029 a0034 a0037 a0042 a0044 a0045 a0047 a0049 a0052	a0001c0001 a0001c0051 a0001c0058 others(26): Show a0001c0001 a0001c0051 a0001c0058 a0002c0002 a0002c0012 a0004c0005 a0005c0006 a0005c0017 a0006c0007 a0007c0009 a0009c0011 a0011c0018 a0012c0042 a0015c0014 a0020c0057 a0021c0052 a0023c0054 a0024c0056 a0025c0050 a0026c0049 a0029c0040 a0034c0045 a0037c0033 a0042c0059 a0044c0030 a0045c0060 a0047c0027 a0049c0025 a0052c0067	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(52): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0042 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0113 a0001c0051t0001 a0001c0058t0017 a0002c0002t0003 a0002c0002t0020 a0002c0002t0021 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0076 a0002c0002t0083 a0002c0012t0003 a0004c0005t0024 a0005c0006t0004 a0005c0017t0004 a0005c0017t0047 a0006c0007t0108 a0006c0007t0110 a0007c0009t0111 a0009c0011t0029 a0009c0011t0033 a0011c0018t0002 a0012c0042t0015 a0015c0014t0025 a0020c0057t0001 a0021c0052t0001 a0023c0054t0005 a0024c0056t0004 a0025c0050t0019 a0026c0049t0002 a0029c0040t0109 a0034c0045t0077 a0037c0033t0034 a0042c0059t0001 a0044c0030t0001 a0045c0060t0112 a0047c0027t0005 a0049c0025t0051 a0052c0067t0004	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 others(104): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0259 a0001c0001t0004g0036 a0001c0001t0004g0094 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0006 a0001c0001t0006g0040 a0001c0001t0006g0045 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0133 a0001c0001t0007g0024 a0001c0001t0007g0038 a0001c0001t0007g0042 a0001c0001t0018g0029 a0001c0001t0019g0021 a0001c0001t0026g0003 a0001c0001t0042g0113 a0001c0001t0056g0039 a0001c0001t0058g0037 a0001c0001t0059g0031 a0001c0001t0060g0222 a0001c0001t0061g0053 a0001c0001t0113g0262 a0001c0051t0001g0206 a0001c0058t0017g0047 a0002c0002t0003g0147 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0020g0065 a0002c0002t0020g0220 a0002c0002t0021g0136 a0002c0002t0065g0219 a0002c0002t0066g0190 a0002c0002t0067g0068 a0002c0002t0068g0064 a0002c0002t0069g0058 a0002c0002t0076g0072 a0002c0002t0083g0216 a0002c0012t0003g0234 a0004c0005t0024g0062 a0004c0005t0024g0071 a0005c0006t0004g0178 a0005c0006t0004g0226 a0005c0017t0004g0102 a0005c0017t0047g0117 a0006c0007t0108g0066 a0006c0007t0110g0246 a0007c0009t0111g0211 a0009c0011t0029g0257 a0009c0011t0033g0077 a0011c0018t0002g0229 a0012c0042t0015g0034 a0015c0014t0025g0060 a0020c0057t0001g0016 a0021c0052t0001g0041 a0023c0054t0005g0005 a0024c0056t0004g0026 a0025c0050t0019g0025 a0026c0049t0002g0083 a0029c0040t0109g0070 a0034c0045t0077g0059 a0037c0033t0034g0073 a0042c0059t0001g0182 a0044c0030t0001g0089 a0045c0060t0112g0179 a0047c0027t0005g0004 a0049c0025t0051g0183 a0052c0067t0004g0261	107	262	0.4084	252	c.380 others(269): Show c.380-2214_380-2213insCCTGCGCCTGGGTGCCGGGTCCCGGGGT ACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTAT GTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCACTC TGTGCCTGGGTTCTGGGTCCCGGGGTACACCTATGTTCACTCTACACCTG GGTGCTGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGG GTCCCGGGGTACACCTATGTTCAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436080	A A	AGTGAACA others(245): Show AGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACA CAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTA CCCCGGGACCCAGAACCCAGGCACAGAGTGAACATAGGTGTACCCTGGGA CCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCAT CCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGC AGG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	262	0.0038	252	c.380 others(269): Show c.380-2214_380-2213insCCTGCACCTGGGTGCCGGGTCCCGGGGT ACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTAT GTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCACTC TGTGCCTGGGTTCTGGGTCCCGGGGTACACCTATGTTCACTCTACACCTG GGTGCTGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGG GTCCCGGGGTACACCTATGTTCAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436662	G G	GCGCAAGG others(245): Show GCGCAAGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAG TGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATA GGTGTACCCCGGGACCCAGCATCCACATGTAGAGTGAACACAGGTGTACC CCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACC CGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGCACCC ACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01516.hp1 others(11): Show HG00099.hp1 HG01168.hp2 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02148.hp1 HG02258.hp1 HG02735.hp2 HG02738.hp2 HG03041.hp1 HG03139.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0012 others(3): Show a0001 a0003 a0012 a0017 a0018 a0041	a0001c0001 a0003c0003 a0003c0015 others(4): Show a0001c0001 a0003c0003 a0003c0015 a0012c0044 a0017c0064 a0018c0063 a0041c0035	a0001c0001t0001 a0003c0003t0008 a0003c0003t0009 others(8): Show a0001c0001t0001 a0003c0003t0008 a0003c0003t0009 a0003c0003t0022 a0003c0003t0090 a0003c0015t0009 a0003c0015t0087 a0012c0044t0048 a0017c0064t0063 a0018c0063t0088 a0041c0035t0091	a0001c0001t0001g0119 a0001c0001t0001g0159 a0003c0003t0008g0027 others(11): Show a0001c0001t0001g0119 a0001c0001t0001g0159 a0003c0003t0008g0027 a0003c0003t0009g0035 a0003c0003t0009g0161 a0003c0003t0022g0191 a0003c0003t0022g0243 a0003c0003t0090g0242 a0003c0015t0009g0118 a0003c0015t0087g0030 a0012c0044t0048g0160 a0017c0064t0063g0162 a0018c0063t0088g0228 a0041c0035t0091g0239	14	262	0.0534	252	c.380 others(269): Show c.380-2796_380-2795insTGTGGGTGCTGGGTCACAGGGTACACCT ACGTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGTACACCTATGTTCAC TCTACACCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACATG TGGATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCC GGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCG GGGTACACCTATGTTCACCTTGCG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436663	T T	TGTAGAGT others(245): Show TGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGT GAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATAG GTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTGTACCC CGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACCC GGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGCACCCA CAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG01496.hp2 others(8): Show HG00639.hp1 HG01361.hp1 HG01496.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp2 HG02723.hp2 HG03098.hp2 HG03453.hp2 HG04204.hp2 NA19091.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0033 a0038 a0048	a0001c0001 a0002c0002 a0006c0007 others(3): Show a0001c0001 a0002c0002 a0006c0007 a0033c0021 a0038c0041 a0048c0026	a0001c0001t0001 a0001c0001t0046 a0002c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0046 a0002c0002t0002 a0002c0002t0021 a0002c0002t0074 a0002c0002t0081 a0002c0002t0084 a0006c0007t0013 a0033c0021t0028 a0038c0041t0040 a0048c0026t0032	a0001c0001t0001g0221 a0001c0001t0046g0177 a0002c0002t0002g0235 others(8): Show a0001c0001t0001g0221 a0001c0001t0046g0177 a0002c0002t0002g0235 a0002c0002t0021g0158 a0002c0002t0074g0120 a0002c0002t0081g0172 a0002c0002t0084g0188 a0006c0007t0013g0213 a0033c0021t0028g0009 a0038c0041t0040g0061 a0048c0026t0032g0141	11	262	0.0420	252	c.380 others(269): Show c.380-2797_380-2796insGTGTGGGTGCTGGGTCACAGGGTACACC TACGTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGTACACCTATGTTCA CTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGT GTGGATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGC CGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCC GGGGTACACCTATGTTCACTCTAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AFDN_chr6_167821911_167977023	167976426	A A	ACAGTGGG others(245): Show ACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGG GGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTC CCCCTGCAGTGTGTGGTGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCA GTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG GGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGG AGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	326	0.0031	252	c.64 others(263): Show c.6491_*6492insCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGA GGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGG CAGTGGGGGTCATTCCCCCTGCAGTGTGTGGTGAGGAGAAGACAGTGGGG GTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCC CCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAG TGTGTTGGGAGGAGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4404		chr6	TogoVar
AFF2_chrX_148495617_149005663	148581303	C C	CATATATA others(245): Show CATATATATACACGTATATATACGTATACGTGTACACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACA CGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	169	0.0059	252	c.48- others(269): Show c.48-70691_48-70690insTATACACGTATATATACGTATACGTGTA CACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACACGTATATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	318239	A A	ACCCTGCA others(245): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTC CCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTT CATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACC CTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	268	0.0037	252	c.-35 others(263): Show c.-3591_-3590insCCCTGCACCTCCCCCATCCTTCACCTCCCCCCTC CCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3474		chr5	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(245): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGG GAGAGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGA GGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGG AGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 NA19012.hp2 others(3): Show HG02723.hp2 HG03130.hp2 NA19012.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 a0001c0001t0056	a0001c0001t0003g0249 a0001c0001t0003g0259 a0001c0001t0003g0271 others(3): Show a0001c0001t0003g0249 a0001c0001t0003g0259 a0001c0001t0003g0271 a0001c0001t0004g0265 a0001c0001t0029g0002 a0001c0001t0056g0351	6	356	0.0169	252	c.667 others(267): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCT CTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTC TCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(245): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGG GAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGG AGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGG AGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02895.hp1 HG02895.hp2 others(5): Show HG02129.hp2 HG02895.hp1 HG02895.hp2 NA18947.hp2 NA18952.hp2 NA18962.hp1 NA18983.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0043 a0001c0001t0054	a0001c0001t0001g0315 a0001c0001t0004g0143 a0001c0001t0004g0188 others(5): Show a0001c0001t0001g0315 a0001c0001t0004g0143 a0001c0001t0004g0188 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0016g0141 a0001c0001t0043g0197 a0001c0001t0054g0348	8	356	0.0225	252	c.667 others(267): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCC CCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCT CTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTC TCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(245): Show GGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAG AGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGA GAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGG GGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGG GGAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGGGGGGGAGGGG AGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	356	0.0028	252	c.667 others(267): Show c.667-817_667-816insTCTCCCCTCCCCCCCCCTTCTCTCTCCCCT CTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCC CTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCCC CCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCT CCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTC TCCCCCTCTCCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429236	A A	ACGTTCTA others(245): Show ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02647.hp1 others(6): Show HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03098.hp1 HG03225.hp1 NA18522.hp2	a0001 a0002 a0033 a0001 a0002 a0033	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0033c0027	a0001c0001t0001 a0001c0006t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0006t0003 a0002c0002t0001 a0033c0027t0001	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0006t0003g0163 a0002c0002t0001g0272 a0033c0027t0001g0275	9	310	0.0290	252	c.-14 others(273): Show c.-144-11120_-144-10869dupACTGAGCGCGAGAGTTGAGAGTCC CTGCTGTGTACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAA CGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAG CGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAGCGTGAGAG TTGAGAGTCCCTGCTGTGTACTAGAACG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD55_chr5_56094680_56238330	56152167	T T	TAAAAACT others(245): Show TAAAAACTTTTGTTTGTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATC AATAAAAAAATAAATTAAAAACAAAAACAAAAACAAAAACAAAACAAAAA AAAATAAATGAATAAAATAAAACAAGTACAAATTTAAACTAGAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0280 a0001c0003t0002g0280	1	308	0.0033	252	c.483 others(269): Show c.483+7665_483+7666insTTTTTTTTTTTCTAGTTTAAATTTGTAC TTGTTTTATTTTATTCATTTATTTTTTTTTGTTTTGTTTTTGTTTTTGTT TTTGTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAG AGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGA TAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGG CCTTCCGCACAAACAAAAGTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	6/11			chr5	TogoVar
ANO7_chr2_241183677_241230976	241218126	G G	GGGCGGGG others(245): Show GGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGG CGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTAGGGACGGGGCGGG GGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCG CAGGGGCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCG CGCAGGGGCGGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGG GGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0124 a0001c0001t0016g0124	1	396	0.0025	252	c.217 others(269): Show c.2179-113_2179-112insGGCGGGGGGGCAGCGGGGGCGCGCAGGG GCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGG GGCGCGTAGGGACGGGGCGGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGG GCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCG GGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGGCGGGGGGCAGCGGGG GCGCGCAGGGGCGGGGCGGGGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(245): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	334	0.0030	252	c.838 others(267): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
AP2A2_chr11_920870_1017240	994952	C C	CGCTGTCC others(245): Show CGCTGTCCTCTCCCGGGGGCCACTGTCCCTGCTGCACACCCCGCTGTCCT CTTCCCGGGGGGCCACTGTCCCTGCTGCACACCCCGCTGTCCTCTCCCGG GGGCCACTGTCCCTGCTGGACGCCCCCCTGGCCTGTCCCGGGGGCCACTG TCCCTGCTGCACACCCTGCTGGCCTGTCCCGGGGGGCCACTGTCCCCTGC TGGACGCCCCCCCTGGCCTGTCCCGGGGGGCCACTGTCCCTGCTGCACAC CCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0089 a0001c0001t0007g0089	1	268	0.0037	252	c.195 others(269): Show c.1956+711_1956+712insTCCTCTCCCGGGGGCCACTGTCCCTGCT GCACACCCCGCTGTCCTCTTCCCGGGGGGCCACTGTCCCTGCTGCACACC CCGCTGTCCTCTCCCGGGGGCCACTGTCCCTGCTGGACGCCCCCCTGGCC TGTCCCGGGGGCCACTGTCCCTGCTGCACACCCTGCTGGCCTGTCCCGGG GGGCCACTGTCCCCTGCTGGACGCCCCCCCTGGCCTGTCCCGGGGGGCCA CTGTCCCTGCTGCACACCCTGCTG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3D1_chr19_2095988_2156566	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0197 a0001c0003t0002g0197	1	406	0.0025	252	c.355 others(271): Show c.3553-2086_3553-2085insTGGAGTTGGTGCCTCGGCATTGGGGT CTGGGTGTTGGCGTCTTGGAGTTGGTGCCTTGGCGTTGGGGTCTGGGTGT TGGCGTCTTGGAGTTGGTGCCTCGGCATTGGGGTCTGGGTGTTGGCGTCT TGGAGTTGGTGCCTTGGCGTTGGGGTCTGGGTGTTGGCGTCTTGGAGTTG GTGCCTCGGCATTGGGGTCTGGGTGTTGGCGTCTTGGAGTTGGTGCCTTG GCGTTGGGGTCTGGGTGTTGGCGTCT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(62): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG01070.hp2 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18969.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0006c0019	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0004t0002 a0001c0005t0002 a0006c0019t0002	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 others(62): Show a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0003t0001g0071 a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0048 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0073 a0001c0003t0002g0079 a0001c0003t0002g0186 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0208 a0001c0003t0002g0249 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0329 a0001c0003t0002g0343 a0001c0003t0002g0344 a0001c0003t0009g0348 a0001c0003t0009g0349 a0001c0004t0002g0045 a0001c0005t0002g0018 a0001c0005t0002g0019 a0001c0005t0002g0020 a0001c0005t0002g0021 a0001c0005t0002g0022 a0001c0005t0002g0023 a0001c0005t0002g0025 a0001c0005t0002g0029 a0001c0005t0002g0033 a0001c0005t0002g0035 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0044 a0001c0005t0002g0047 a0006c0019t0002g0038	65	406	0.1601	252	c.355 others(271): Show c.3553-2086_3553-2085insTGGAGTTGGTGCCTCGGCATTGGGGT CTGGGTGTTGGCGTCTTGGAGTTGGTGCCTTGGCGTTGGGGTCTGGGTGT TGGCGTCTTGGAGTTGGTGCCTCGGCATTGGGGTCTGGGTGTTGGCGTCT TGGAGTTGGTGCCTTGGCGTTGGGGTCTGGGTGTTGGCATCTTGGAGTTG GTGCCTCGGCATTGGGGTCTGGGTGTTGGCGTCTTGGAGTTGGTGCCTTG GCGTTGGGGTCTGGGTGTTGGCGTCT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCGAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0046	1	406	0.0025	252	c.355 others(271): Show c.3553-2086_3553-2085insTGGAGTTGGTGCCTCGGCATTGGGGT CTGGGTGTTGGCGTCTTGGAGTTGGTGCCTCGGCGTTGGGGTCTGGGTGT TGGCGTCTTGGAGTTGGTGCCTCGGCATTGGGGTCTGGGTGTTGGCGTCT TGGAGTTGGTGCCTTGGCGTTGGGGTCTGGGTGTTGGCATCTTGGAGTTG GTGCCTCGGCATTGGGGTCTGGGTGTTGGCGTCTTGGAGTTGGTGCCTTG GCGTTGGGGTCTGGGTGTTGGCGTCT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGATGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0338 a0001c0003t0002g0338	1	406	0.0025	252	c.355 others(271): Show c.3553-2086_3553-2085insTGGAGTTGGTGCCTCGGCATTGGGGT CTGGGTGTTGGCGTCTTGGAGTTGGTGCCTTGGCGTTGGGGTCTGGGTGT TGGCGTCTTGGAGTTGGTGCCTCGGCATTGGGGTCTGGGTGTTGGCATCT TGGAGTTGGTGCCTTGGCGTTGGGGTCTGGGTGTTGGCATCTTGGAGTTG GTGCCTCGGCATTGGGGTCTGGGTGTTGGCGTCTTGGAGTTGGTGCCTTG GCGTTGGGGTCTGGGTGTTGGCGTCT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31			chr19	TogoVar
ART1_chr11_3640128_3669416	3653799	A A	ATCCTCAC others(245): Show ATCCTCACTGCCATTCTCCCATAAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0060 a0003c0003t0002g0060	1	394	0.0025	252	c.-52 others(269): Show c.-52-5342_-52-5341insAAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTGTCCTCACTGCCATTCTCCCAT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3653799	A A	ATCCTCAC others(245): Show ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTATT GTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp2 HG02559.hp1 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0114 a0002c0004t0002g0113 a0002c0004t0001g0114 a0002c0004t0002g0113	2	394	0.0051	252	c.-52 others(269): Show c.-52-5267_-52-5266insATTGTAAATTCCACCTCCTACCTCTGTC TATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACC TCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCT TGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATC AGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTG CCATTCTCCCATCAGACATCAAGT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP1_chr8_130047104_130448674	130049350	T T	TGGGGGGC others(245): Show TGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGGAACACATGGGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAA CACATGGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGGAACACATGG GGGGCAGAGGAGAACACATGGGGGGCAGAGGGGGAACACATGGGGGCAGA GGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATAC ATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	308	0.0033	252	c.53 others(263): Show c.5380_*5381insCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTC TGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTC CCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGC CCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCCATG TGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2753		chr8	TogoVar
ATG2B_chr14_96274195_96368341	96340103	A A	AATATATG others(245): Show AATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATATCATATATGATATATATGAATATATATATCATA TATGATATATATGAATATATATATCATATATGATATATATGAATATATAT ATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0004 a0010c0016t0004	a0010c0016t0004g0078 a0010c0016t0004g0078	1	356	0.0028	252	c.924 others(269): Show c.924+1418_924+1419insGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar

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