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
CELF5_chr19_3219661_3302076	3287351	G G	GGAGTTCA others(312): Show GGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACTAAA AATTCAAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCAACTA CTGGGGAAGCTAAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGTTTG CAGTGAGTCAAGATGATGCCATTTCACTCCAGTGTGGGTGACAGAGCAAG ACTCTGTCTCAAAAAAAAATAATAAAAATAAAAATTAAAAAAATATGGTC AGGTGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGACTGAGGTG GGCAGATCACCTGAGGTCAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	262	0.0038	319	c.118 others(338): Show c.1186+1354_1186+1355insCGAAACCCTTTCTCTACTAAAAATTC AAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCAACTACTGGG GAAGCTAAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGTTTGCAGTG AGTCAAGATGATGCCATTTCACTCCAGTGTGGGTGACAGAGCAAGACTCT GTCTCAAAAAAAAATAATAAAAATAAAAATTAAAAAAATATGGTCAGGTG CAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGACTGAGGTGGGCAG ATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(312): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0093 a0001c0005t0001g0093	1	388	0.0026	319	c.487 others(336): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(312): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	388	0.0026	319	c.487 others(336): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(312): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	388	0.0026	319	c.487 others(336): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(312): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0283 a0001c0002t0017g0283	1	440	0.0023	319	c.12 others(330): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CETN2_chrX_152821994_152835757	152833246	C C	CAAAAGTT others(312): Show CAAAAGTTATATGTGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATT AGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01175.hp2 HG01934.hp1 others(26): Show HG00438.hp2 HG01175.hp2 HG01934.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03669.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp1 NA18949.hp2 NA18987.hp1 NA18989.hp1 NA19001.hp1 NA19082.hp1 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0003g0003 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0003g0003	29	321	0.0903	319	c.-25 others(330): Show c.-2537_-2536insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCATCACGGCCGGCTAATTTTTTTGTATT TTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAG CGTGAGCCACCGCGCCCGGCCCACATATAACTTTT	CETN2	ENSG00000147400.10	transcript	ENST00000370277.5	protein_coding		2490		chrX	TogoVar
CFAP44_chr3_113281930_113446493	113328297	T T	TCAATCTC others(312): Show TCAATCTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCT TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCTACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0023 a0003c0007t0023	a0003c0007t0023g0176 a0003c0007t0023g0176	1	348	0.0029	319	c.411 others(336): Show c.4117-479_4117-478insGCCGGGCGCGGTAGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAGATTG	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFHR3_chr1_196769840_196800407	196792227	T T	TAAGAAAT others(312): Show TAAGAAATTTATTTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT CCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19063.hp2 HG03471.hp1 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0067 a0002c0001t0002g0072 a0002c0001t0002g0067 a0002c0001t0002g0072	2	261	0.0077	319	c.797 others(336): Show c.797-1077_797-1076insGGCCGGGCGCGGTGGCTCACGCCTGTAG TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAATTTATTT	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHD2_chr15_92895324_93032996	93023922	T T	TCCAAGCT others(312): Show TCCAAGCTAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG02630.hp2 others(4): Show HG00738.hp2 HG01081.hp1 HG02630.hp2 HG03130.hp1 HG03490.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0005t0015 a0001c0006t0004 a0001c0005t0004 a0001c0005t0015 a0001c0006t0004	a0001c0005t0004g0153 a0001c0005t0004g0154 a0001c0005t0004g0287 others(4): Show a0001c0005t0004g0153 a0001c0005t0004g0154 a0001c0005t0004g0287 a0001c0005t0004g0291 a0001c0005t0015g0073 a0001c0006t0004g0158 a0001c0006t0004g0163	7	306	0.0229	319	c.515 others(336): Show c.5154-434_5154-433insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAAGCGTGAGCCACCGCGCCCGGCCCAAGCTAAAAATTTT	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	38/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRM3_chr1_239381568_239920450	239616845	T T	TAAAAATA others(312): Show TAAAAATATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0094 a0001c0001t0036g0094	1	116	0.0086	319	c.-31 others(340): Show c.-312-15367_-312-15366insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATATTCCA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNB4_chr15_78619111_78646210	78644313	T T	TAAGAGGT others(312): Show TAAGAGGTAGGGCCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01257.hp1 HG01496.hp1 others(13): Show HG01256.hp2 HG01257.hp1 HG01496.hp1 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02897.hp1 HG03453.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0002 a0001c0006t0002 a0003c0016t0004	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 others(13): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0002g0003 a0001c0001t0002g0036 a0001c0001t0002g0112 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0007g0124 a0001c0003t0002g0009 a0001c0006t0002g0057 a0003c0016t0004g0123	16	416	0.0385	319	c.-31 others(330): Show c.-3181_-3180insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTT TAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAAGGCCCTACCTCTT	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding		3104		chr15	TogoVar
CHST12_chr7_2398611_2453484	2424361	T T	TAAGAATC others(312): Show TAAGAATCCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAAATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp2 HG02056.hp1 others(3): Show HG00544.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp2 NA18951.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0246 a0001c0001t0258 a0001c0001t0259 others(3): Show a0001c0001t0246 a0001c0001t0258 a0001c0001t0259 a0001c0001t0261 a0001c0001t0262 a0001c0001t0263	a0001c0001t0246g0084 a0001c0001t0258g0053 a0001c0001t0259g0038 others(3): Show a0001c0001t0246g0084 a0001c0001t0258g0053 a0001c0001t0259g0038 a0001c0001t0261g0079 a0001c0001t0262g0028 a0001c0001t0263g0058	6	344	0.0174	319	c.-77 others(336): Show c.-77-8192_-77-8191insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAAATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATCCAC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHST9_chr18_26901481_27190308	26958049	G G	GCTAATTT others(312): Show GCTAATTTTGTATTTTTTTTTTTTTTATTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG00738.hp1 others(32): Show HG00323.hp1 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01952.hp2 HG02129.hp2 HG02486.hp1 HG02809.hp2 HG03098.hp1 HG03669.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp2 NA18952.hp1 NA18953.hp2 NA18966.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0070 a0001c0001t0072 a0001c0001t0074 a0001c0002t0019 a0001c0002t0049	a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0004g0052 others(32): Show a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0004g0052 a0001c0001t0004g0055 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0113 a0001c0001t0004g0118 a0001c0001t0004g0121 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0015g0237 a0001c0001t0016g0140 a0001c0001t0016g0190 a0001c0001t0016g0238 a0001c0001t0016g0249 a0001c0001t0024g0123 a0001c0001t0024g0126 a0001c0001t0024g0229 a0001c0001t0025g0145 a0001c0001t0025g0146 a0001c0001t0026g0001 a0001c0001t0026g0002 a0001c0001t0070g0132 a0001c0001t0072g0192 a0001c0001t0074g0077 a0001c0002t0019g0005 a0001c0002t0019g0093 a0001c0002t0049g0006	35	262	0.1336	319	c.203 others(338): Show c.203-13684_203-13683insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAATAAAAAAAAAAAAAATACAAAATTAG	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	4/5			chr18	TogoVar
CLASP1_chr2_121332776_121654462	121583902	T T	TAAAAAAT others(312): Show TAAAAAATCGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0163 a0001c0002t0006g0163	1	214	0.0047	319	c.195 others(338): Show c.195+21798_195+21799insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACAGCGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCGCTCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGATTTTTT	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40			chr2	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(312): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC ACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0074 a0001c0001t0007g0074	1	384	0.0026	319	c.215 others(334): Show c.215-176_215-175insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLPTM1L_chr5_1312752_1350099	1328860	C C	CCAGCTCC others(312): Show CCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACA CATTTCATCCAGCTCCTCCTCTACAGGGACATTCCATCCAGCTCCTCCTC TACAGACACATTTCATACAGCTCCTCCTCTACAGAGACATTGCATCCAGC TCCTCCTCTACAGGCACATTCCATCCAGCTCCTCCTCTACAGACACATTT CATCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAG ACACATTTCATCCAGCTCCTCCTCTACAGGGACATTCCATCCAGCTCCTC CTCTACAGACACATTTCATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	370	0.0027	319	c.108 others(338): Show c.1080+1419_1080+1420insTATGAAATGTGTCTGTAGAGGAGGAG CTGGATGGAATGTCCCTGTAGAGGAGGAGCTGGATGAAATGTGTCTGTAG AGGAGGAGCTGGATGGAATGTGTCTGTAGAGGAGGAGCTGGATGAAATGT GTCTGTAGAGGAGGAGCTGGATGGAATGTGCCTGTAGAGGAGGAGCTGGA TGCAATGTCTCTGTAGAGGAGGAGCTGTATGAAATGTGTCTGTAGAGGAG GAGCTGGATGGAATGTCCCTGTAGAGGAGGAGCTGGATGAAATGTGTCTG TAGAGGAGGAGCTGGATGGAATGTGTCTGTAGAGGAGGAGCTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329527	A A	AGCCTCAG others(312): Show AGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTG GTGGACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTC TCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCT CAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGA CAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTATCTGC CTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCCTGGTGGACAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	370	0.0027	319	c.108 others(336): Show c.1080+752_1080+753insCCTGTCCACCAGGCAGAGAGTCCTGAGG CCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGATAG TCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAG GCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTG TCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTG AGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGA GAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLUAP1_chr16_3496004_3544048	3508912	G G	GAAAGAGT others(312): Show GAAAGAGTGAGCTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0015 a0006c0007t0015	a0006c0007t0015g0041 a0006c0007t0015g0042 a0006c0007t0015g0041 a0006c0007t0015g0042	2	382	0.0052	319	c.399 others(334): Show c.399+454_399+455insCTGTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAGTGAG	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(312): Show GGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGG AGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAG GAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGG GAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGG GGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0297 a0001c0004t0001g0297	1	308	0.0033	319	c.637 others(334): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586440	C C	CAGGGGGA others(312): Show CAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGG AGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGG AGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGA GGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAG GGAAGGGGAGGGAAGGAAAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAA GGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGG GAGGGGAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0183 a0001c0006t0002g0183	1	308	0.0033	319	c.637 others(334): Show c.637+104_637+105insCCTCCCCTTCCCCTCCCCTCCCCTCCCCTT CCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCTTCCCTTTCCTTCCCTCCCCTTCCCTCCCCTTCC CTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCC CTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCT CCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNTN4_chr3_2093866_3062959	2920305	T T	TAGAAAGA others(312): Show TAGAAAGAGGCTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp1 HG02074.hp2 others(2): Show HG00735.hp2 HG01261.hp1 HG02074.hp2 HG03239.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0001c0007t0016 a0001c0009t0014	a0001c0001t0001g0050 a0001c0003t0001g0037 a0001c0004t0002g0064 others(2): Show a0001c0001t0001g0050 a0001c0003t0001g0037 a0001c0004t0002g0064 a0001c0007t0016g0105 a0001c0009t0014g0039	5	116	0.0431	319	c.120 others(338): Show c.1208-5320_1208-5319insAGAGGCTGGATTGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGTCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2920305	T T	TAGAAAGA others(312): Show TAGAAAGAGGCTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGGGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	116	0.0086	319	c.120 others(338): Show c.1208-5320_1208-5319insAGAGGCTGGATTGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGGGGCGG AGCTTGCAGTGAGTCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP5_chr2_124020287_124926219	124811988	T T	TATTTATA others(312): Show TATTTATATATTATATAATATATAATTTATATTTATATATTATATAATAT ATAATTTATATTTATATATTATATAATATATATTTATATTATATATTATA TAATATATAATTTATATTTATATATTATATAATATATAATTTATATATAT ATTATATAATATATAATTTATATTATATATTATATAATATATTTTATATT TGTATATTATATAATATATAATTTATATTATATATTATATATATAATTTA TATTATATATATAATATATAATATATATTATATATTATATAATTTATATT TATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03098.hp1 HG02451.hp2 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0002 a0001c0002t0001g0063 a0001c0002t0006g0028 a0001c0001t0001g0002 a0001c0002t0001g0063 a0001c0002t0006g0028	3	64	0.0469	319	c.321 others(340): Show c.3217+13749_3217+13750insTTTATATTATATATTATATAATAT ATAATTTATATTTATATATTATATAATATATAATTTATATATATATTATA TAATATATAATTTATATTATATATTATATAATATATTTTATATTTGTATA TTATATAATATATAATTTATATTATATATTATATATATAATTTATATTAT ATATATAATATATAATATATATTATATATTATATAATTTATATTTATATA TTATATAATATATAATTTATATATTATATAATATATAATTTATATTTATA TATTATATAATATATAATTTATATTTATATATTATATAATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL21A1_chr6_56051590_56252580	56098262	T T	TAAATATA others(312): Show TAAATATATAGAAATATATATGTAAATCTATATATAAATATATAAATATA TATAAATCTATATATAAATATATAAATATATATAAATCTATATATAAATA TATAAATATATATAAATCTATATATAAATATATAAATATATATAAATCTA TATATAAATATATAAATATATATAAATCTATATATAAATATATAAATATA TATAAATATATGTATAAATATATAAATATATATAAATATATGTATAAATA TATAAATATATATAAATATATGTATAAATATATAAATATATATAAAAATA TATATATGAATATATAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0087 a0001c0001t0014g0087	1	264	0.0038	319	c.181 others(338): Show c.1812+3209_1812+3210insTTTTTATATATTCATATATATATTTT TATATATATTTATATATTTATACATATATTTATATATATTTATATATTTA TACATATATTTATATATATTTATATATTTATACATATATTTATATATATT TATATATTTATATATAGATTTATATATATTTATATATTTATATATAGATT TATATATATTTATATATTTATATATAGATTTATATATATTTATATATTTA TATATAGATTTATATATATTTATATATTTATATATAGATTTATATATATT TATATATTTATATATAGATTTACATATATATTTCTATATATTT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098530	T T	TATATAGA others(312): Show TATATAGAAATATATATGTAAATCTATATATAAATATATAAATATATATA AATCTATATATAAATATATAAATATATATAAATCTATATATAAATATATA AATATATATAAATCTATATATAAATATATAAATATATATAAATCTATATA TAAATATATAAATATATATAAATCTATATATAAATATATAAATATATATA AATATATGTATAAATATATAAATATATATAAATATATGTATAAATATATA AATATATATAAAAATATATATATGAATATATAAAAAATATAAATATATAA ATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0251 a0003c0005t0007g0251	1	264	0.0038	319	c.181 others(338): Show c.1812+2941_1812+2942insTTATATATATTTATATATATTTATAT ATTTATATTTTTTATATATTCATATATATATTTTTATATATATTTATATA TTTATACATATATTTATATATATTTATATATTTATACATATATTTATATA TATTTATATATTTATATATAGATTTATATATATTTATATATTTATATATA GATTTATATATATTTATATATTTATATATAGATTTATATATATTTATATA TTTATATATAGATTTATATATATTTATATATTTATATATAGATTTATATA TATTTATATATTTATATATAGATTTACATATATATTTCTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110355512	G G	GTGGGGGG others(312): Show GTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTA CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGG GGAGGGCTGTACAGCTCACC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0179 a0004c0030t0001g0179	1	372	0.0027	319	c.100 others(336): Show c.100-1958_100-1957insGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGT GTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGTACAGCTCACCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134657292	C C	CAGTTTAT others(312): Show CAGTTTATAGATAATATGGGGGTGGGGTGTAGGTGTAGTTTATAGATAAT ATGGGGGCTGGGGTAGGGGGTGAAGTTTATAGATAATATGGGGGTGGGGT GGGGGTGTAGTTTATAGATAATATGGGGGTGGGGTGGGGGTGTAGTTTAT AGATAATATGGGGGTGGGGTGTAGGTGTAGTTTATAGATAATATGGGGGT GGGGTGGGGGTGTAGTTTATAGATAATATGGGGGCTGGGGTAGGGGGTGA AGTTTATAGATAATATGGGGGTGGGGTGGGGGTGTAGTTTATAGATAATA TGGGGGTGGGGTGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG03041.hp1 others(1): Show HG02257.hp2 HG02922.hp2 HG03041.hp1 HG03516.hp2	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0047 a0001c0016t0001 a0001c0016t0012 others(1): Show a0001c0006t0047 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046	a0001c0006t0047g0019 a0001c0016t0001g0022 a0001c0016t0012g0021 others(1): Show a0001c0006t0047g0019 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020	4	272	0.0147	319	c.109 others(338): Show c.109+15203_109+15204insGGTGTAGTTTATAGATAATATGGGGG CTGGGGTAGGGGGTGAAGTTTATAGATAATATGGGGGTGGGGTGGGGGTG TAGTTTATAGATAATATGGGGGTGGGGTGGGGGTGTAGTTTATAGATAAT ATGGGGGTGGGGTGTAGGTGTAGTTTATAGATAATATGGGGGCTGGGGTA GGGGGTGAAGTTTATAGATAATATGGGGGTGGGGTGGGGGTGTAGTTTAT AGATAATATGGGGGTGGGGTGGGGGTGTAGTTTATAGATAATATGGGGGT GGGGTGTAGGTGTAGTTTATAGATAATATGGGGGTGGGGTGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(312): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG GGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGA CCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG GGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGC GTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGG GGAAGGACGGGGAGGGACGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG01123.hp1 others(17): Show HG00544.hp1 HG00642.hp1 HG01123.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG03471.hp2 HG03492.hp2 HG03927.hp1 NA18983.hp1 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19070.hp2 NA19079.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0014 a0016	a0001c0001 a0002c0002 a0002c0008 others(6): Show a0001c0001 a0002c0002 a0002c0008 a0003c0028 a0004c0005 a0004c0030 a0007c0036 a0014c0025 a0016c0026	a0001c0001t0002 a0002c0002t0001 a0002c0002t0008 others(7): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0008 a0002c0008t0001 a0003c0028t0001 a0004c0005t0001 a0004c0030t0001 a0007c0036t0005 a0014c0025t0001 a0016c0026t0002	a0001c0001t0002g0096 a0002c0002t0001g0037 a0002c0002t0001g0040 others(17): Show a0001c0001t0002g0096 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0078 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0008g0051 a0002c0008t0001g0077 a0003c0028t0001g0053 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058 a0004c0030t0001g0085 a0007c0036t0005g0083 a0014c0025t0001g0042 a0016c0026t0002g0116	20	128	0.1563	319	c.100 others(334): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGA CGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAC CAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGG ACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTG TGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL8A1_chr3_99633594_99804217	99786025	T T	TGAAATGA others(312): Show TGAAATGAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03471.hp1 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0047 a0001c0001t0014g0005 a0001c0001t0014g0047	2	262	0.0076	319	c.-3- others(334): Show c.-3-4645_-3-4644insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGTC	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(312): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0140 a0002c0002t0002g0140	1	330	0.0030	319	c.591 others(334): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPSF4L_chr17_73243449_73266880	73249699	T T	TAAAAGAT others(312): Show TAAAAGATGGTAATACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	398	0.0025	319	c.498 others(336): Show c.498-1164_498-1163insTTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGGTATTACCATCTTTT	CPSF4L	ENSG00000187959.9	transcript	ENST00000344935.8	protein_coding	5/5			chr17	TogoVar
CPT1C_chr19_49686116_49718731	49701912	A A	ATATATAT others(312): Show ATATATATGTATATATATTTATTTATATATGTATATATATTTATATATAT GTATATATATTTATTTATATATGTATATATATTTATATATGTATATATAT TTATATATGTATATATATTTATATATGTATATTTATTTATATATGTATAT ATATTTATATATGTATATATATTTATATATAAATAAATATATTTATATAT AAATATATATATTTATTTATATATAAATAAAGGTTATTTATATATAAATA TATATATTTTTATATATAAATAAAGGTTATTTATATATAAATATATATAT ATTTATATATAAATAAAGGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0199 a0001c0002t0002g0199	1	350	0.0029	319	c.693 others(334): Show c.693+281_693+282insATATGTATATATATTTATTTATATATGTAT ATATATTTATATATATGTATATATATTTATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATTT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATAAAT AAATATATTTATATATAAATATATATATTTATTTATATATAAATAAAGGT TATTTATATATAAATATATATATTTTTATATATAAATAAAGGTTATTTAT ATATAAATATATATATATTTATATATAAATAAAGGTTAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49701912	A A	ATATATAT others(312): Show ATATATATGTATATATATTTATTTATATATGTATATATATTTATATATAT GTATATATATTTATTTATATATGTATATATATTTATATATGTATATATAT TTATATATGTATATATATTTATATATGTATATTTATTTATATATGTATAT TTATTTATATATGTATATATATTTATATATAAATAAATATATTTATATAT AAATATATATATTTATTTATATATAAATAAAGGTTATTTATATATAAATA TATATATTTTTATATATAAATAAAGGTTATTTATATATAAATATATATAT ATTTATATATAAATAAAGGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG00741.hp2 others(14): Show HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01993.hp2 HG02738.hp2 HG03492.hp2 HG03831.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0002 a0001c0004t0002 a0002c0005t0002 a0001c0002t0002 a0001c0004t0002 a0002c0005t0002	a0001c0002t0002g0010 a0001c0002t0002g0190 a0001c0002t0002g0192 others(13): Show a0001c0002t0002g0010 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0004t0002g0191 a0001c0004t0002g0202 a0001c0004t0002g0203 a0002c0005t0002g0195 a0002c0005t0002g0200 a0002c0005t0002g0205	17	350	0.0486	319	c.693 others(334): Show c.693+281_693+282insATATGTATATATATTTATTTATATATGTAT ATATATTTATATATATGTATATATATTTATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATTT ATTTATATATGTATATTTATTTATATATGTATATATATTTATATATAAAT AAATATATTTATATATAAATATATATATTTATTTATATATAAATAAAGGT TATTTATATATAAATATATATATTTTTATATATAAATAAAGGTTATTTAT ATATAAATATATATATATTTATATATAAATAAAGGTTAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRK_chr17_1415693_1461232	1459409	T T	TTCCTGGA others(312): Show TTCCTGGAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0348 a0001c0001t0033g0348	1	404	0.0025	319	c.-32 others(330): Show c.-3293_-3292insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAGAACATTCCAGGA	CRK	ENSG00000167193.8	transcript	ENST00000300574.3	protein_coding		3178		chr17	TogoVar
CRTAC1_chr10_97860000_98035621	97977521	T T	TAAAAAGA others(312): Show TAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGC TAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCA CTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 NA21309.hp2 HG01243.hp1 HG02970.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0001c0001t0001 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0142 a0001c0003t0001g0016 a0002c0005t0001g0009 a0001c0001t0001g0142 a0001c0003t0001g0016 a0002c0005t0001g0009	3	204	0.0147	319	c.224 others(338): Show c.224+33616_224+33617insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTTTT	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	2/14			chr10	TogoVar
CRYBB1_chr22_26594278_26623027	26601643	T T	TCTAACAG others(312): Show TCTAACAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02965.hp1 others(1): Show HG02258.hp1 HG02647.hp1 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0144 a0001c0001t0001g0030 a0001c0001t0001g0144	4	426	0.0094	319	c.575 others(334): Show c.575+235_575+236insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGTTAG	CRYBB1	ENSG00000100122.7	transcript	ENST00000647684.1	protein_coding	5/5			chr22	TogoVar
CRYBB1_chr22_26594278_26623027	26601643	T T	TCTAACAG others(312): Show TCTAACAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	426	0.0024	319	c.575 others(334): Show c.575+235_575+236insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGTTAG	CRYBB1	ENSG00000100122.7	transcript	ENST00000647684.1	protein_coding	5/5			chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(312): Show TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC ACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02683.hp1 HG02683.hp2 HG01175.hp2 HG02683.hp1 HG02683.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0006 a0002c0003t0006 a0003c0002t0003 a0001c0001t0006 a0002c0003t0006 a0003c0002t0003	a0001c0001t0006g0055 a0002c0003t0006g0045 a0003c0002t0003g0056 a0001c0001t0006g0055 a0002c0003t0006g0045 a0003c0002t0003g0056	3	272	0.0110	319	c.173 others(336): Show c.173+4608_173+4609insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCATGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYGC_chr2_208123137_208134828	208125811	A A	AATACCTT others(312): Show AATACCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	444	0.0023	319	c.23 others(330): Show c.2391_*2392insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CATTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGGTAT	CRYGC	ENSG00000163254.5	transcript	ENST00000282141.4	protein_coding		2325		chr2	TogoVar
CRYGD_chr2_208116607_208129524	208125811	A A	AATACCTT others(312): Show AATACCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	454	0.0022	319	c.-13 others(330): Show c.-1339_-1338insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CATTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGGTAT	CRYGD	ENSG00000118231.5	transcript	ENST00000264376.5	protein_coding		1288		chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66457640	T T	TAAAAAAA others(312): Show TAAAAAAAAAAAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCATTGCAGTCCGTAGTCCGGCCTGGGCAACACAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0028 a0002c0002t0004g0028	1	46	0.0217	319	c.153 others(340): Show c.1531+62976_1531+62977insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTGTTGCCCAGGCCGGACTACGGACTGCAATGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66457640	T T	TAAAAAAA others(312): Show TAAAAAAAAAAAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCATTGCAGTCCGTAGTCCGGCCTGGGCAACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	46	0.0217	319	c.153 others(340): Show c.1531+62976_1531+62977insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTTGCCCAGGCCGGACTACGGACTGCAATGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(312): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0294 a0001c0002t0004g0294	1	324	0.0031	319	c.330 others(334): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117716193	A A	AACTTTTT others(312): Show AACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTAAAAAATAAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG03209.hp2 HG02145.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0033	3	164	0.0183	319	c.474 others(338): Show c.4746+1824_4746+1825insGTTATTTTTTAGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	22/22			chr7	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(312): Show CCTATATAATTTTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0004 a0000c0002t0002g0004	1	264	0.0038	319	c.-15 others(330): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAATAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(312): Show CCTATATAATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01071.hp2 HG02683.hp2 others(9): Show HG00323.hp2 HG01071.hp2 HG02683.hp2 HG03239.hp1 HG03654.hp1 HG03942.hp1 HG04228.hp1 NA18940.hp1 NA18970.hp1 NA18972.hp2 NA19063.hp1 NA19090.hp1	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0002 a0001c0001t0001 a0000c0002t0002 a0001c0001t0001	a0000c0002t0002g0004 a0001c0001t0001g0001 a0000c0002t0002g0004 a0001c0001t0001g0001	12	264	0.0455	319	c.-15 others(330): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(312): Show CCTATATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02735.hp1 HG02683.hp1 HG02735.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0004 a0000c0002t0002g0004	2	264	0.0076	319	c.-15 others(330): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(312): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01071.hp2 HG01099.hp1 others(11): Show HG00323.hp2 HG01071.hp2 HG01099.hp1 HG01346.hp1 HG02132.hp1 HG02698.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18962.hp1 NA18972.hp2 NA19090.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0002 a0001c0001t0001 a0000c0003t0002 a0001c0001t0001	a0000c0003t0002g0000 a0001c0001t0001g0001 a0000c0003t0002g0000 a0001c0001t0001g0001	14	272	0.0515	319	c.-15 others(330): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(312): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18970.hp1 NA18947.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	319	c.-15 others(330): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CYP4F2_chr19_15873023_15903074	15883301	T T	TAAAAATG others(312): Show TAAAAATGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0034 a0001c0012t0001g0034	2	380	0.0053	319	c.111 others(338): Show c.1115+2622_1115+2623insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACCATTTTT	CYP4F2	ENSG00000186115.13	transcript	ENST00000221700.11	protein_coding	9/12			chr19	TogoVar

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