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
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(851): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	195	0.0103	858	c.300 others(875): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185581	G G	GGGTGAGT others(851): Show GGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTATGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0036 a0036	a0036c0072 a0036c0072	a0036c0072t0001 a0036c0072t0001	a0036c0072t0001g0209 a0036c0072t0001g0209	1	336	0.0030	858	c.300 others(875): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(851): Show GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0055 a0002c0004t0001g0055	1	221	0.0045	858	c.303 others(877): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(851): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCCGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAG GGGGGCTGACCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGT GGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTC CCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTC CCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0098 a0001c0001t0049g0098	1	249	0.0040	858	c.165 others(875): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCA ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCA CCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCAC CTCCCTCCTGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(851): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCC CATGCTGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	38	0.0263	858	c.248 others(875): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTACATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTC TCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGATAGA others(851): Show TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0068 a0003c0005t0002g0068	1	4	0.2500	858	c.342 others(877): Show c.3423-4247_3423-4246insGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(851): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACG GCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTC CCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0320 a0001c0001t0012g0320	1	376	0.0027	858	c.172 others(875): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG GGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CLCN5_chrX_49917596_50104230	50057375	G G	GTCCTGGA others(851): Show GTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACT ATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATA CTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGA TACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATA GATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGA TAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTG GATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCC TGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCT CCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACT CTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	16	0.0625	858	c.164 others(877): Show c.164-12182_164-12181insATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTC CTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTC TCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGAC TCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGG ACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCA GGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATC CAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTA TCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATAC TATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGAT ACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAGATACTATCCAGGACTCTCCTGGATAG	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(851): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGATGCAGTTTAT AGATGATATGGGGGTGGGGACATGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTA GCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATAT GGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGG GTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAG ATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGG CGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTG CAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAAT ATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGT AGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19240.hp1 HG03017.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0059 a0001c0003 a0003c0059	a0001c0003t0015 a0003c0059t0040 a0001c0003t0015 a0003c0059t0040	a0001c0003t0015g0189 a0003c0059t0040g0194 a0001c0003t0015g0189 a0003c0059t0040g0194	2	14	0.1429	858	c.109 others(877): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GATGCAGTTTATAGATGATATGGGGGTGGGGACATGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTT TATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGA GGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAG TGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGA TAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCG GGGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAG TTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATA TGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(851): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGC AGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTA GCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATAT GGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGG GTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAG ATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGG CGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTG CAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAAT ATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGT AGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG03453.hp1 HG02258.hp1 HG02622.hp2 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0005t0053 a0001c0009t0001 a0001c0005t0001 a0001c0005t0053 a0001c0009t0001	a0001c0005t0001g0107 a0001c0005t0053g0105 a0001c0009t0001g0106 a0001c0005t0001g0107 a0001c0005t0053g0105 a0001c0009t0001g0106	3	15	0.2000	858	c.109 others(877): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTT TATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGA GGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAG TGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGA TAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCG GGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAG TTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATA TGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(851): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACATGCTATGTACATCATATAGTATGTATACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	353	0.0028	858	c.51+ others(873): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTATACATACT ATATGATGTACATAGCATGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(851): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACATGCTATGTACATCATATAGTATGA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	353	0.0028	858	c.51+ others(873): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTCATACTATATGATGTACATA GCATGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(851): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACATGCTATGTACATCATATAGTATGTATACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	353	0.0028	858	c.51+ others(873): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTATACA TACTATATGATGTACATAGCATGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(851): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCACCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC CACCACTATAACCACCATCATCATCACCACCACTACCACTACTATAACCA TCACCACCATCACTGCTATAACCACCACCACCACCACTATAACCACCACC ACCACCACCACCACCACTATAATCATTACCACTATAACCACCACTACCAC CACTACCACTATGATAACCATCACCAACACCACTATAACCACCATCATCA TCACCACCACTACCACTACTATAACCATTACCACCATCACTGCTATAACC ACCACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTAC CACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCA CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCACCA TCACTGCTATAACCACCACCACCACCACTATAACCATCACCACCATCACC ACTATAACCACCACTACCACCACCACCATTATAACCATCACCACCACCGC TATAACCACCATCATCATCACCACCACTACCACTACTGTAACCATCACCA CCATCACTG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0162 a0001c0009t0003g0162	1	45	0.0222	858	c.724 others(877): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGCGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTATA GTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGTTGGTGAT GGTTATCATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTA TAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTT ATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGAT GATGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGG TGGTAATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATA GTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAGTGGTGGTTAT AGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGG TGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTA GTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGT TATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGA TGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTA GTGGTGGTTATAGTGGTGATGGTGGTGGTGGTTATAGTGGTGGTGGTGGT GGTTATAGCAGTGGTGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(851): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCTCACCCCCACCCCCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCGCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	86	0.0116	858	c.39 others(869): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGAGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
FBXL14_chr12_1560993_1599581	1574360	A A	AGGAGGCT others(851): Show AGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTG GCGGCAGCACTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCGGCAGCA CTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTG GAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGT GTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAG GCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTG AGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAG GCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGG TGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGG AGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGG CAGCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGT GGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGG CTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGG GGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTG GCGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCA GCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGG ATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGTGGAGGCT GGGGTGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0365 a0001c0001t0005g0365	1	400	0.0025	858	c.119 others(877): Show c.1195-7551_1195-7550insCCTCACCCCAGCCTCCACCCACACCG CTGCTGCCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCTGCCA GCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCT CACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCA GCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACC CACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCCACCAGC CTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCA CCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTC CACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCAC ACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTG CTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCACCC ACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCATCCACACCGCTG CCACCAGCCTCCCCCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCT CCTCTCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACGGCTGCCA CCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCC CCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCTCTCACCCC AGCCTCCACCCACACCGCTGCCACCAGCCTCC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574451	T T	TGGCAGCA others(851): Show TGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCGGT GTGGATGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGC AGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGT GTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGC AGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCG GTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTG GAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGGGTGGAGGCTGGGG TGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAG GCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTG GATGGAGGCTGGGGTAGGGGAGGCTGGCGGCAGCAGCGGTGTGGGCGGAG GCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTG AGGGGAGGCTGGCGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGC TGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CGGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTG GGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCT GGGGTGAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGG GAGGCTGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	240	0.0042	858	c.119 others(877): Show c.1195-7642_1195-7641insGCCAGCCTCCCCCACCCCAGCCTCCA TCCACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACACCG CTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCTGCCGC CAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCC TCACCCCAGCCTCCACCCACACCGCTGCTGCCAGCCTCCCCTCACCCCAG CCTCCATCCACACCGCTGCCGCCAGCCTCCCCTCACCCCAGCCTCCATCC ACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCGCCCACACCGCTG CTGCCGCCAGCCTCCCCTACCCCAGCCTCCATCCACACCGCTGCCACCAG CCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCCC ACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCC TCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCAC ACCACTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCCA CCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCC TCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCT CCTCTCACCCCAGCCTCCATCCACACCGCTGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCGCCAGCCT CCCCCACCCCAGCCTCCATCCACACTGCTGCC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(851): Show GAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGG GAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGG GGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGAGAGG GGAAGGGGAGGGGAGAGGAGGGGGGAGGGGAAGAAGGGGAGGAGAGGGGA GGGGAGGAGAGGGGAGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGAG GGGAGGAGGGGTGGGGGGAGGGTGGAAGGGGAGGGGAGGGGGAGGAGGGG AGGGGAGGGGAGGGGAGCAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGA GGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGG AGGGGGAGGAGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGG AAGGGAGGGGGAGGAGGGGGGAGTAGGGGAGGGGAGGGGGAGGAGGGGGG AGGAGGAGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGGA GGAGGGGAGGGGAGGGGAGGAGGGGGGGAGGAGGGGGAGGAGGGGAGGGG AGGGGGAGGAGGGGAGGAGAGGGGGAGGAGGGGGGAGGAGGGGGGAGGGG GGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGG GAGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAG GGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	6	0.1667	858	c.-17 others(877): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC CTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCTCCTCCTCCCCC TCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCC CCCCTCCTCCCCCTCTCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCC CTCCTCCCCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCCCT CCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCTCCCCCTC CCCTCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCTCCCCTCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCTCCCCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCT CCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTCCTCCC CCTCCCCTCCTCCCTGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCC CTCCCCTTCCACCCTCCCCCCACCCCTCCTCCCCTCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTT CTTCCCCTCCCCCCTCCTCTCCCCTCCCCTTCCCCTCTCCTCCTCCCCTC CCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCT CCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT TCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FOXN3_chr14_89151177_89422233	89361016	C C	CACCACCA others(851): Show CACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCA CCACCACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACC TCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGC ACCACCTCCACCACCACCACCACCACTACCACCTCCAGCACCACCTCCAC CACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCACCACCT CCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCA CTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCACCACCACCACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCAC CACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCT CCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACC TCCACCACT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0198 a0001c0001t0018g0198	1	216	0.0046	858	c.544 others(877): Show c.544-10209_544-10208insAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAG GTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGA GGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGC TGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTG GTGGTGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGT GGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGG TGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTG GAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTAGT GGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGTG GTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGA GGTGGTAGTGGTGGTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGG TGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTG GTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGT GCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGG TGGTGGTGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAG GTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GTPBP4_chr10_983434_1024932	1010037	A A	ATTGTTTC others(851): Show ATTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCC ACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGA TGGTGGGGTGATTTTTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGC TGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCT TTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTT TTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAA TGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCT GTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCT GTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGT GTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTG ATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTG TTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGT GTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGT GGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGAT GTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCT CCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGG GATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAG GCTGATGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 NA20129.hp2 HG02647.hp1 HG02723.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0080 a0001c0002t0003g0024 a0001c0002t0003g0080	3	74	0.0405	858	c.124 others(875): Show c.1244-270_1244-269insTTGTAGCTTTCTCCACGTGTGGGTGTTG AATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTT CTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTC CTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGG GTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGG TGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGT TGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCAC GTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATG GTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTG ATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTT CTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTT GGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATG AGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGT AGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGT TGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGT TGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGAT TTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTT TCCTGTTGTTTTGGGATGGTGGGGTGATTT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(851): Show TCTACCACCTCTACCACCACCACCACCACTACCACCTCTACCACCACCAT CATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACTA CCACCACCACCACCACCACCACCACCACTACCACCACTACCACCTCTACC ACCACCATCACCACCACCACCACTACCACCTCTACCACCACCATCACCAC CACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCACCA CCTCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCACCACT ACCACCTCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCAC CACCATCATCACCACCACGACCACCACTACCACCTCTACCACCACCATCA CCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCACT ATCACCACCTCTACCACCACCATCACCACCACCACCACCACCTCTACCAC CACCATCACTACTACCACCACCACCATCACCACCTCTACCACCATCGCTA CCATCACCACCACCACCACTATCACCGCCACCACCATCGCTACCATCACC ACCACCACTACCACCACCACCACCACCAATACCACTACCACCACCATCAC TACCACCACCACCACCATCACCACCTCTACCATCGCTACCATCACCACCA CCACCACTACCATCATCACCACTACCACCATCACCACCTCTACCACCACC ATCACCACCACCACTATCACCACCTCTACCACCACCATCACCACCACCAC CACCACCACCTCTACCACCACCATCACTACTACCACCACCACCACCTCTA CCACCATCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp2 HG02145.hp1 HG03579.hp2	a0004 a0018 a0004 a0018	a0004c0006 a0018c0026 a0004c0006 a0018c0026	a0004c0006t0030 a0018c0026t0054 a0004c0006t0030 a0018c0026t0054	a0004c0006t0030g0045 a0018c0026t0054g0076 a0004c0006t0030g0045 a0018c0026t0054g0076	2	20	0.1000	858	c.520 others(879): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGT GGTGATGGTGGTAGTGGTGATGATGGTAGTGGTGGTGGTGGTGATGGTAG CGATGGTAGAGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTA GTGGTATTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTAGCGAT GGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGTAG AGGTGGTGATGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTG GTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG AGGTGGTAGTGGTGGTCGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTA GAGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTAGAGGT GGTAGAGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGT GGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGA TGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAG GTGGTAGTGGTGGTGGTGGTGGTAGAGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTTTT others(851): Show TTTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	207	0.0048	858	c.41- others(873): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322171	G G	GGAATATA others(851): Show GGAATATATACATGGAATATATATATGGAATATATATATCTGGAATATAT ATATGGAATATATATATATGGAACATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATGCAATATATATA TATGGAATATATATATGCAGTATATATATATGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATATGTGGAATATATATA TGGAATATATATATATGTGGAATATATATATGGAATATATATATGGAATA TATATATATGGAATATATATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATGT GTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGA ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATAGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATACATGGAATATATACATGGAACATATACAT GGAACATATACATGGAATATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	259	0.0039	858	c.-28 others(869): Show c.-2885_-2884insGAATATATACATGGAATATATATATGGAATATAT ATATCTGGAATATATATATGGAATATATATATATGGAACATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATGCAATATATATATATGGAATATATATATGCAGTATATATATATGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATA TGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATAT ATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATATG GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATAGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAATATATACATGGAATATATAC ATGGAACATATACATGGAACATATACATGGAATATATATATATGGAACAT ATACGGAATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2798		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322915	A A	ATATATGG others(851): Show ATATATGGAATATATACGGAATATATATATAATATATATGGAATATATAT ATACGGAATATATATAATATATATACGGAATATATATATACGGAATATAT ATAATATATATACGGAATATATATATAATATATATATAATATATATACGG AATATATATATAATATATAAATGGAATATATATACGGAATATATATATAA TATATAAATGGAATATATATATACGGAATATATATATAATATATAAATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAT ACGGAATATATATATAATATATATATGGAATATATATATACGGAATATAT ATATAATATATATATGGAATATATATATACGGAATATATATATTATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATACGGAATATATATATATGGATATATATACGGAATATATATATATGGAA TATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGT ATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATATG GAATGTGTATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	317	0.0032	858	c.-21 others(869): Show c.-2141_-2140insTATATGGAATATATACGGAATATATATATAATAT ATATGGAATATATATATACGGAATATATATAATATATATACGGAATATAT ATATACGGAATATATATAATATATATACGGAATATATATATAATATATAT ATAATATATATACGGAATATATATATAATATATAAATGGAATATATATAC GGAATATATATATAATATATAAATGGAATATATATATACGGAATATATAT ATAATATATAAATGGAATATATATATACGGAATATATATATAATATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATATACGGAATATATATATAATATATATATGGAATATATATATACGGAAT ATATATATTATATATATGGAATATATATATACGGAATATATATATAATAT ATATATGGAATATATATACGGAATATATATATATGGATATATATACGGAA TATATATATATGGAATATATATATATGGAATGTGTATATATGGAATATAT ATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATA TGGAATATATATATGGAATGTGTATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATATGGAATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2054		chr21	TogoVar
JUND_chr19_18274694_18286622	18284518	A A	AAAAATAA others(851): Show AAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGA CCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATC CAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACA TGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTG GCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGC TTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCAC TGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAA TAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTT TGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGC TTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCC AGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCA GAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGC GCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGC AACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACT AAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTT GCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAA ACTCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01515.hp1 HG01516.hp1 HG00741.hp1 HG01515.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0000 a0001c0001t0026g0000 a0001c0001t0002g0000 a0001c0001t0026g0000	3	397	0.0076	858	c.-30 others(869): Show c.-3035_-3034insAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAGTG CAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAACCG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCAC CATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGGG ATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGGA GACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCAG GTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAGAGC CACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACGGA TTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTCAC TGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGAAT TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTC CTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTATAG GAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATTAT TATTATTATTATTATTATTATTTT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2897		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(851): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGG CCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCAAAG CGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTG AAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAA TGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAG CCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAG CCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATA ATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGA GGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGC CAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTG TGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGA ATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAG AGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAA TACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGT GAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCT GCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	188	0.0053	858	c.-30 others(869): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATG GCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTA GTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGAC CTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCG AGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAG ACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGG CTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCC TCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTT TGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTG ATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGAT TATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATT ATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(851): Show AAATAATAATAATAATGATAATAATAATAATAATAATAATAAAGACCTGG CCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAG CGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTG AAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAA TGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAG CCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAG CCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATA ATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGA GGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGC CAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTG TGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGA ATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAG AGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAA TACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGT GAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCT GCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	2	189	0.0106	858	c.-30 others(869): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATG GCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTA GTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGAC CTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCG AGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAG ACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGG CTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCC TCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTT TGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTG ATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGGAT TATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATT ATTATTATCATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(851): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTC TCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	77	0.0130	858	c.-27 others(869): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(851): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGATGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGTGATGG CGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTG ATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGG GGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGG GGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAA TGACGGTGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0120	1	31	0.0323	858	c.956 others(875): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCC CACCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCCCCACCATCATCACCCTCACCATCATCACCCCCACC CCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCA CCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCATCA TCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(851): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATCCATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18954.hp1 NA18944.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0255 a0002c0002t0002g0256	2	208	0.0096	858	c.126 others(875): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT GGATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(851): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATATCCATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATCCATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	207	0.0048	858	c.126 others(875): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT GGATATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGGTA others(851): Show GGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGG GGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGG TAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGT ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGAT TTCAGGTGT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	198	0.0051	858	c.624 others(875): Show c.624+9133_624+9134insTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGAC AGGATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTT CAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAG GTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGG TGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG TGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGG GGGGGGTAGGGAGGATTTCAGGTGTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(851): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCC CCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCT CTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCC CTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCC TCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCC TCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCC CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	6	0.1667	858	c.100 others(877): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCC CTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCC TCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCC CTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCC CCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCC CCCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACC CCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCT CCCCCACCCCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(851): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGAGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT GAAGAGGGAGAGGAGGGGGGAGGAAAGGGAAAAGGGGGAGGAGGCGGAGC AGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGA GAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAG GGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAG GAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGA GGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	8	0.1250	858	c.641 others(873): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCTTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCTC TCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(851): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCA GTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGG AGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAG AGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGG GTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAGAGAGGGGGAGAG GAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGA GGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	8	0.1250	858	c.641 others(873): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTCTTCTCTTC CTTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCT GTCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTC CCCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCAT CCTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTT TCCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCT CCGCCTCCTCCCCCTTTTTCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCC TCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(851): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT GAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGC AGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGA GAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAG GGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAG GAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGA GGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(35): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01261.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02135.hp1 HG02165.hp2 HG02300.hp1 HG02559.hp2 HG02622.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18945.hp1 NA18947.hp1 NA18995.hp2 NA19055.hp1 NA19055.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0004 a0015 others(1): Show a0001 a0004 a0015 a0042	a0001c0001 a0001c0002 a0001c0010 others(7): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0001c0015 a0001c0044 a0001c0060 a0004c0006 a0015c0016 a0042c0061	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0012t0001 a0001c0015t0001 a0001c0044t0001 a0001c0060t0001 a0004c0006t0001 a0015c0016t0001 a0042c0061t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0140 a0001c0001t0001g0218 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0010t0001g0011 a0001c0010t0001g0118 a0001c0012t0001g0008 a0001c0015t0001g0006 a0001c0044t0001g0085 a0001c0060t0001g0219 a0004c0006t0001g0058 a0004c0006t0001g0084 a0015c0016t0001g0100 a0015c0016t0001g0106 a0042c0061t0001g0060	38	45	0.8444	858	c.641 others(873): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCC TCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(851): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAG CAGTAGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGA GAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAG GGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAG GAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGA GGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	8	0.1250	858	c.641 others(873): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCTACTGCTCCGCCTCCTCCCCCTTTTC CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCC TCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTACCCC others(851): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCCTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCT CCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC TCTCACCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0061 a0001c0001t0006g0061	1	353	0.0028	858	c.-7- others(871): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(851): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAA AATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATAT AAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT ATAAAATCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	210	0.0048	858	c.-5+ others(873): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATATAA AATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAA TATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NXN_chr17_794310_984776	949198	C C	CCCCCCTG others(851): Show CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTG CCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	234	0.0043	858	c.360 others(877): Show c.360+30120_360+30121insAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCC GCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAG GAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCBP3_chr21_45638725_45947450	45924094	T T	TGAACACT others(851): Show TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0110 a0001c0001t0002g0111	2	187	0.0107	858	c.718 others(875): Show c.718-5817_718-5816insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACAC CGGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924311	C C	CGTGGATA others(851): Show CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAAC ACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGGTCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACGGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGG AACAGTCGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18998.hp1 HG03239.hp1 NA18998.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0157 a0003c0005t0001g0161 a0001c0001t0001g0157 a0003c0005t0001g0161	2	164	0.0122	858	c.718 others(875): Show c.718-5602_718-5601insATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACGGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924580	A A	ATAGAAAC others(851): Show ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAACACACGTAAGATCGGGTGTGCGTGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAG TCGCGTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0280 a0001c0001t0011g0281 a0001c0001t0011g0280 a0001c0001t0011g0281	2	192	0.0104	858	c.718 others(875): Show c.718-5289_718-5288insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAACACACGT AAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGA GGAGATGTGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924666	A A	ATCGGGTG others(851): Show ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00673.hp1 others(20): Show HG00438.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01261.hp2 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02273.hp2 HG02895.hp2 HG02897.hp1 HG03540.hp2 NA18941.hp1 NA18943.hp1 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18967.hp2 NA18982.hp1 NA19064.hp1 NA19068.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0002c0006t0001	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 others(20): Show a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0002g0055 a0001c0001t0002g0094 a0001c0001t0002g0108 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0013g0162 a0002c0006t0001g0189	23	264	0.0871	858	c.718 others(875): Show c.718-5206_718-5205insGTAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924666	A A	ATCGGGTG others(851): Show ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGATAGTAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp1 HG03516.hp1 HG02647.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193	3	244	0.0123	858	c.718 others(875): Show c.718-5206_718-5205insGTAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGTAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924689	G G	GAACACCG others(851): Show GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCG AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGA GGAGATGCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	285	0.0035	858	c.718 others(875): Show c.718-5206_718-5205insGTAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAG GAGATGCAAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924959	C C	CGGGAACA others(851): Show CGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAG ATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACA GTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	252	0.0040	858	c.718 others(875): Show c.718-4947_718-4946insAGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACA GTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924976	G G	GTAGAAAC others(851): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCGTGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 NA18969.hp1 others(1): Show HG00438.hp1 HG00558.hp1 NA18969.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0002g0263 others(1): Show a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0002g0263 a0001c0001t0002g0264	4	206	0.0194	858	c.718 others(875): Show c.718-4876_718-4875insATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACTGGGAACAGTCGCATGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(851): Show ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGA GATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGTAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0087 a0001c0004t0002g0087	1	161	0.0062	858	c.718 others(875): Show c.718-4779_718-4778insACGAGGAGATGTGAACACCGGGAACAGT CGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGTAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTCGAGTGGA TAGAAACAGCACACGTAAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTACCCC others(851): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCCTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCT CCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC TCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0025 a0002c0005t0010g0025	1	338	0.0030	858	c.16 others(869): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar

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