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
CDK19_chr6_110604978_110820469	110670219	T T	TAAAATTT others(313): Show TAAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02965.hp2 HG01433.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0220 a0001c0001t0004g0217 a0001c0001t0004g0220	2	300	0.0067	320	c.315 others(335): Show c.315+211_315+212insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	3/12			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(313): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGAGCAGTGGCGGGATCTCGGCTCACTG TAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0196 a0001c0001t0032g0196	1	196	0.0051	320	c.742 others(339): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAGCAGTGGCGGGATCT CGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(313): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG TAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01257.hp1 others(6): Show HG00323.hp2 HG00642.hp2 HG01257.hp1 HG01358.hp2 HG02257.hp1 HG02922.hp2 HG03139.hp1 HG03516.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011	a0001c0001t0003 a0001c0001t0021 a0001c0001t0048 others(4): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0048 a0001c0002t0003 a0001c0002t0033 a0001c0008t0004 a0001c0011t0004	a0001c0001t0003g0162 a0001c0001t0021g0177 a0001c0001t0048g0143 others(6): Show a0001c0001t0003g0162 a0001c0001t0021g0177 a0001c0001t0048g0143 a0001c0002t0003g0140 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0033g0193 a0001c0008t0004g0105 a0001c0011t0004g0130	9	196	0.0459	320	c.742 others(339): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(313): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG06807.hp1 others(1): Show HG02486.hp1 HG02615.hp1 HG06807.hp1 NA19240.hp1	a0002 a0007 a0010 others(1): Show a0002 a0007 a0010 a0015	a0002c0014 a0007c0008 a0010c0015 others(1): Show a0002c0014 a0007c0008 a0010c0015 a0015c0041	a0002c0014t0056 a0007c0008t0007 a0010c0015t0024 others(1): Show a0002c0014t0056 a0007c0008t0007 a0010c0015t0024 a0015c0041t0109	a0002c0014t0056g0249 a0007c0008t0007g0138 a0010c0015t0024g0142 others(1): Show a0002c0014t0056g0249 a0007c0008t0007g0138 a0010c0015t0024g0142 a0015c0041t0109g0329	4	334	0.0120	320	c.-25 others(331): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065114	A A	ATAGTATT others(313): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0178 a0003c0006t0004g0178	1	334	0.0030	320	c.-25 others(331): Show c.-2598_-2597insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2249		chr11	TogoVar
CEMIP_chr15_80774370_80956771	80872459	T T	TCCCATAG others(313): Show TCCCATAGTAAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	254	0.0039	320	c.-17 others(339): Show c.-175-1063_-175-1062insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCATAGTAAACTTCT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEP89_chr19_32870925_32976958	32954827	G G	GCTAATTT others(313): Show GCTAATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0005 a0000c0005t0005	a0000c0005t0005g0099 a0000c0005t0005g0099	1	386	0.0026	320	c.306 others(337): Show c.306-1027_306-1026insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAATTAG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	3/18			chr19	TogoVar
CETN2_chrX_152821994_152835757	152833246	C C	CAAAAGTT others(313): Show CAAAAGTTATATGTGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATT AGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	321	0.0031	320	c.-25 others(331): Show c.-2537_-2536insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCATCACGGCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCGCGCCCGGCCCACATATAACTTTT	CETN2	ENSG00000147400.10	transcript	ENST00000370277.5	protein_coding		2490		chrX	TogoVar
CFAP44_chr3_113281930_113446493	113331596	T T	TAAACTCA others(313): Show TAAACTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02615.hp1 others(1): Show HG01106.hp2 HG01891.hp2 HG02615.hp1 HG02723.hp2	a0016 a0017 a0016 a0017	a0016c0024 a0017c0039 a0017c0040 a0016c0024 a0017c0039 a0017c0040	a0016c0024t0024 a0017c0039t0066 a0017c0040t0022 a0016c0024t0024 a0017c0039t0066 a0017c0040t0022	a0016c0024t0024g0279 a0016c0024t0024g0280 a0017c0039t0066g0122 others(1): Show a0016c0024t0024g0279 a0016c0024t0024g0280 a0017c0039t0066g0122 a0017c0040t0022g0281	4	348	0.0115	320	c.361 others(337): Show c.3616-929_3616-928insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAGTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	25/34			chr3	TogoVar
CFAP46_chr10_132803392_132947570	132821170	C C	CACTTGTG others(313): Show CACTTGTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTGTGTGC TGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGCGGTGATGTGTGCTG TGTGTGCGCTGATGTGTGCTGATGTGTGCTGTGTGAGTGCTGGTGTGCTG ATGTGTGCACTGTGTGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGTGGT GATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGTGTGCTGATGTGTG CTGATGTGTGCACTGTATGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGC AGTGATGTGTGCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0230 a0038c0037t0001g0230	1	246	0.0041	320	c.711 others(339): Show c.7118-6257_7118-6256insACTCACACAGCACACATCACTGCACA CACAGCACACATCACCACACACACAGCATACAGTGCACACATCAGCACAC ATCAGCACACACACAGCACACATCACTGCACACACAGCACACATCACCAC ACACACAGCACACATCACCACACACACAGCACACAGTGCACACATCAGCA CACCAGCACTCACACAGCACACATCAGCACACATCAGCGCACACACAGCA CACATCACCGCACACAGCACACAGTGCACACATCAGCACACATCAGCACA CACAGCACACAGCACACATCAGCACACACACAGCACACACAAGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888549	T T	TCACCCCT others(313): Show TCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCC TGCCGCCTGCACCCCGCCACCTTCACCCCTGCCACCTGCACCCCGCCACC TTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCT GCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGC CTGCACCCCTGCCGCCTGCACCCCTGCAGCCTGCACCTGCCACCTTCACC CCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGC CACCTTCACCCCTGCCACCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0066 a0066	a0066c0077 a0066c0077	a0066c0077t0001 a0066c0077t0001	a0066c0077t0001g0127 a0066c0077t0001g0127	1	246	0.0041	320	c.330 others(339): Show c.3305-2591_3305-2590insCAGGTGGCAGGGGTGAAGGTGGCAGG GGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGA AGGTGGCAGGTGCAGGCTGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGC AGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTG CAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGG CGGGGTGCAGGTGGCAGGGGTGAAGGTGGCGGGGTGCAGGCGGCAGGGGT GAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHD2_chr15_92895324_93032996	93023922	T T	TCCAAGCT others(313): Show TCCAAGCTAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0283 a0001c0005t0004g0283	1	306	0.0033	320	c.515 others(337): Show c.5154-434_5154-433insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAAGCGTGAGCCACCGCGCCCGGCCCAAGCTAAAAATTTT	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	38/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(313): Show TAAAGAGGAGCATCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	276	0.0036	320	c.549 others(337): Show c.549+6635_549+6636insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCCCCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(313): Show TAAAGAGGAGCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18948.hp2 HG01069.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0219 a0001c0001t0001g0094 a0001c0001t0001g0219	2	276	0.0073	320	c.549 others(337): Show c.549+6635_549+6636insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(313): Show TAAAGAGGAGCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG03704.hp2 others(1): Show HG00639.hp1 HG02055.hp1 HG03704.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0255 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0255 a0001c0001t0001g0256	4	276	0.0145	320	c.549 others(337): Show c.549+6635_549+6636insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHRNB4_chr15_78619111_78646210	78644313	T T	TAAGAGGT others(313): Show TAAGAGGTAGGGCCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(38): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG02015.hp2 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG04115.hp1 HG04204.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18988.hp2 NA19012.hp1 NA19056.hp1 NA19065.hp1 NA19074.hp2 NA19085.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 others(20): Show a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0228 a0001c0001t0009g0025 a0001c0001t0009g0053 a0001c0001t0011g0026 a0001c0003t0002g0009	41	416	0.0986	320	c.-31 others(331): Show c.-3181_-3180insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTT TTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAAGGCCCTACCTCTT	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding		3104		chr15	TogoVar
CHST12_chr7_2398611_2453484	2424361	T T	TAAGAATC others(313): Show TAAGAATCCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAAATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0260 a0001c0001t0260	a0001c0001t0260g0041 a0001c0001t0260g0041	1	344	0.0029	320	c.-77 others(337): Show c.-77-8192_-77-8191insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAAATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATCCAC	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(313): Show GCTAATTTTGTATTTTTTTTTTTTTTTATTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCTGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03225.hp2 HG02451.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0081 a0001c0005t0085 a0001c0001t0081 a0001c0005t0085	a0001c0001t0081g0255 a0001c0005t0085g0017 a0001c0001t0081g0255 a0001c0005t0085g0017	2	262	0.0076	320	c.203 others(339): Show c.203-13684_203-13683insGCCAGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAATAAAAAAAAAAAAAAATACAAAATTAG	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	4/5			chr18	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(313): Show GCAAATTAATTTCTTTTTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp2 HG01884.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0057 a0001c0001t0004g0058	2	384	0.0052	320	c.215 others(335): Show c.215-176_215-175insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(313): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0076 a0001c0001t0008g0076	1	384	0.0026	320	c.215 others(335): Show c.215-176_215-175insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(313): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18981.hp2 NA18991.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19072.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 others(114): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0098 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0172 a0001c0001t0003g0014 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0127 a0001c0001t0003g0166 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0056 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0010g0037 a0001c0005t0001g0144	137	384	0.3568	320	c.215 others(335): Show c.215-176_215-175insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(313): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCTGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01255.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199	3	384	0.0078	320	c.215 others(335): Show c.215-176_215-175insGCCAGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(313): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG02015.hp2 others(7): Show HG00558.hp1 HG00621.hp1 HG02015.hp2 NA18939.hp2 NA18952.hp2 NA18961.hp2 NA18986.hp2 NA19001.hp2 NA19062.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0158 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0001g0204	10	384	0.0260	320	c.215 others(335): Show c.215-176_215-175insGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(313): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	384	0.0026	320	c.215 others(335): Show c.215-176_215-175insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLUAP1_chr16_3496004_3544048	3508912	G G	GAAAGAGT others(313): Show GAAAGAGTGAGCTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAAGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTTCCGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG03195.hp1 others(2): Show HG02970.hp2 HG03130.hp1 HG03195.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0007 a0001c0004t0007g0011 a0001c0004t0007g0007 a0001c0004t0007g0011	5	382	0.0131	320	c.399 others(335): Show c.399+454_399+455insCTGTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCATGAGGTCGGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTTCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAGTGAG	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNGB3_chr8_86569179_86748634	86669139	A A	ACAGGAAA others(313): Show ACAGGAAATAAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0145 a0001c0015t0010g0145	1	288	0.0035	320	c.494 others(335): Show c.494-972_494-971insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGA GGCTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCTGCAGTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAATTTATTTCCTG	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	4/17			chr8	TogoVar
CNTN3_chr3_74257568_74619659	74405354	T T	TGGATCAA others(313): Show TGGATCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0029 a0007c0025t0029	a0007c0025t0029g0125 a0007c0025t0029g0125	1	174	0.0058	320	c.454 others(339): Show c.454+19490_454+19491insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGATCC	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	5/22			chr3	TogoVar
CNTN3_chr3_74257568_74619659	74405354	T T	TGGATCAA others(313): Show TGGATCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 NA19240.hp2 HG02451.hp2 HG03041.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0007 a0003c0003t0002 a0003c0003t0007	a0003c0003t0002g0052 a0003c0003t0007g0034 a0003c0003t0007g0074 a0003c0003t0002g0052 a0003c0003t0007g0034 a0003c0003t0007g0074	3	174	0.0172	320	c.454 others(339): Show c.454+19490_454+19491insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGATCC	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	5/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2920305	T T	TAGAAAGA others(313): Show TAGAAAGAGGCTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	116	0.0086	320	c.120 others(339): Show c.1208-5320_1208-5319insAGAGGCTGGATTGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAATCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGTCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	148007294	T T	TAATAGTC others(313): Show TAATAGTCTACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp1 HG02717.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0008 a0001c0002t0010 a0001c0005t0008	a0001c0002t0010g0002 a0001c0005t0008g0005 a0001c0002t0010g0002 a0001c0005t0008g0005	2	40	0.0500	320	c.238 others(341): Show c.2383+29320_2383+29321insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATAGTCTACCAGAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(313): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0010 a0011c0022t0010	a0011c0022t0010g0232 a0011c0022t0010g0232	1	324	0.0031	320	c.365 others(339): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(313): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	324	0.0031	320	c.365 others(339): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL19A1_chr6_69861556_70217468	70062002	T T	TTGTTTTT others(313): Show TTGTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG AAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0106 a0008c0019t0001g0106	1	182	0.0055	320	c.117 others(339): Show c.1171-6406_1171-6405insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGAAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTTTTTGTTTTT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	14/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL25A1_chr4_108803725_109307658	109079795	T T	TAAGAGTT others(313): Show TAAGAGTTCAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0095 a0001c0004t0029g0095	1	130	0.0077	320	c.368 others(339): Show c.368-29617_368-29616insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTTGAACTCTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101417602	G G	GTATATCT others(313): Show GTATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAG ACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTAT ATCTAGACATAGATATAGAGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	174	0.0058	320	c.159 others(337): Show c.159-2368_159-2367insCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTAT ATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAG AGATATATCTCTATATCTAGACATAGATATAGAGATATATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(313): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGTGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0005 a0004c0017t0005	a0004c0017t0005g0073 a0004c0017t0005g0073	1	344	0.0029	320	c.85- others(337): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCACCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(313): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0004 a0004	a0004c0089 a0004c0089	a0004c0089t0005 a0004c0089t0005	a0004c0089t0005g0187 a0004c0089t0005g0187	1	372	0.0027	320	c.181 others(335): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(313): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0038 a0003c0007t0008g0038	1	372	0.0027	320	c.181 others(335): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134657101	C C	CGGGGGTG others(313): Show CGGGGGTGCAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTT ATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGG GTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGC GGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTA TAGATAATATGGGGGCGGGGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19009.hp1 HG02155.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0011g0229 a0001c0002t0002g0096 a0001c0001t0011g0229 a0001c0002t0002g0096	2	272	0.0074	320	c.109 others(339): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL8A1_chr3_99633594_99804217	99786025	T T	TGAAATGA others(313): Show TGAAATGAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0205 a0001c0001t0014g0205	1	262	0.0038	320	c.-3- others(335): Show c.-3-4645_-3-4644insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGTC	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(313): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02258.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0088 a0001c0002t0001g0091	2	350	0.0057	320	c.510 others(339): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(313): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01243.hp2 others(15): Show HG00140.hp1 HG00140.hp2 HG01243.hp2 HG02015.hp2 HG02135.hp1 HG02280.hp2 HG02895.hp1 HG02897.hp1 HG03669.hp2 HG04204.hp1 NA18944.hp2 NA18954.hp2 NA18956.hp1 NA18986.hp2 NA18999.hp1 NA19057.hp1 NA19060.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0154 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0003g0222 a0001c0001t0003g0223	18	448	0.0402	320	c.51+ others(335): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(313): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACCTACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	448	0.0022	320	c.51+ others(335): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAG GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(313): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACCTACTATGT ATATCATATAGTATGTATACTACCTACTATGTATATCATATAGTATGTAT ACTACCTACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	448	0.0022	320	c.51+ others(335): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTAGGTAGTATACATACT ATATGATATACATAGTAGGTAGTATACATACTATATGATATACATAGTAG GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287061	A A	ACTATGTA others(313): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0078 a0002c0002t0006g0078	1	448	0.0022	320	c.51+ others(335): Show c.51+2300_51+2301insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287075	G G	ATAGCATG others(313): Show ATAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACAT ACTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAG CATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTA TGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATG TATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTA TATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATA CTACATACTATGTATATCATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18952.hp1 NA19006.hp1 others(2): Show HG00621.hp1 NA18952.hp1 NA19006.hp1 NA19056.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0206 a0001c0001t0004g0207 others(2): Show a0001c0001t0004g0197 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0211	5	448	0.0112	320	c.51+ others(335): Show c.51+2287_51+2288insATGATATACATAGTATGTAGTATACATGCT ACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTAT GTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACAT GATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAG TATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATA TACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATA CATGCTACATGATATACATAGTATGTAGTATACATGCTAT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287076	T T	TAGCATGT others(313): Show TAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATA CTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGC ATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTAT GTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGT ATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTAT ATCATGTAGCATGTATACTACATACTATGTATATCATGCAGCATGTATAC TACATACTATGTATATCATGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	448	0.0022	320	c.51+ others(335): Show c.51+2285_51+2286insGCATGATATACATAGTATGTAGTATACATG CTGCATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGT ATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTAC ATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGT AGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGA TATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTA TACATGCTACATGATATACATAGTATGTAGTATACATGCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287076	T T	TAGCATGT others(313): Show TAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATA CTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGC ATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTAT GTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGT ATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTAT ATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATAC TACATACTATGTATATCATGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18995.hp1 NA19056.hp2 NA18945.hp2 NA18995.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0200 a0001c0001t0004g0041 a0001c0001t0004g0200	3	448	0.0067	320	c.51+ others(335): Show c.51+2285_51+2286insGCATGATATACATAGTATGTAGTATACATG CTACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGT ATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTAC ATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGT AGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGA TATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTA TACATGCTACATGATATACATAGTATGTAGTATACATGCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(313): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0079 a0002c0002t0006g0079	1	448	0.0022	320	c.51+ others(335): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287108	T T	TAGCATGT others(313): Show TAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATA CTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGC ATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTAT GTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGT ATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTAT ATCATGTAGCATGTATACTACATACTATGTATATCATGCAGCATGTATAC TACATACTATGTATATCATGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19054.hp2 HG01934.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0209 a0001c0001t0004g0203 a0001c0001t0004g0209	2	448	0.0045	320	c.51+ others(335): Show c.51+2253_51+2254insGCATGATATACATAGTATGTAGTATACATG CTGCATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGT ATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTAC ATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGT AGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGA TATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTA TACATGCTACATGATATACATAGTATGTAGTATACATGCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar

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