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
CFAP61_chr20_20047532_20365698	20337644	A A	ATGGATAG others(409): Show ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01258.hp1 others(4): Show HG01099.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG04204.hp2 NA18951.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0236 a0001c0001t0002g0216 a0001c0003t0004g0015 others(4): Show a0001c0001t0001g0236 a0001c0001t0002g0216 a0001c0003t0004g0015 a0002c0002t0001g0174 a0002c0002t0002g0071 a0002c0002t0002g0195 a0002c0002t0002g0227	7	137	0.0511	416	c.342 others(435): Show c.3423-4184_3423-4183insATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHM_chrX_85856180_86052558	85911175	G G	GTGTGTAT others(409): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATGAATATATATATATGAATATATATATATGAATATATAT ATATGAATATATATATGAATATATATATATGAATATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATATGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	232	0.0043	416	c.124 others(431): Show c.1244+85_1244+86insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATATTCATATATA TATATTCATATATATATATTCATATATATATTCATATATATATATTCATA TATATATATTCATATATATATATTCATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(409): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0026 a0004c0005t0002g0026	1	246	0.0041	416	c.217 others(433): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(409): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTG CCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCC GTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0026 a0004c0005t0002g0026	1	246	0.0041	416	c.217 others(433): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC GTGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGT GTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCC CTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575684	A A	ATGTGTAT others(409): Show ATGTGTATATATACACGTATATATACTCATATACATGTGTATATATACAC GTATATATACTCATATACATGTGTATATATACACGTATATATACTCATAT ACATGTGTATATATACGTGTATATATACTCATATACATGAGTATATATAC GTGTATATATACTCATATACATGAGTATATATACGTGTATATATACTCAT ATACATGTGTATATATACGTGTATATATACTGAGTATATATACGTGTATA TATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAGTATA TATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAGTATA TATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAGTATA TATACGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0146 a0003c0005t0002g0146	1	370	0.0027	416	c.894 others(431): Show c.894+586_894+587insGTATATATACACGTATATATACTCAGTATA TATACACGTATATATACTCAGTATATATACACGTATATATACTCAGTATA TATACACGTATATATACTCAGTATATATACACGTATATATACTCAGTATA TATACACGTATATATACTCAGTATATATACACGTATATATACACGTATAT ATACTCAGTATATATACACGTATATATACACATGTATATGAGTATATATA CACGTATATATACTCATGTATATGAGTATATATACACGTATATATACTCA TGTATATGAGTATATATACACGTATATATACACATGTATATGAGTATATA TACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATACA CATGTATATGAGTATATATACGTGTATATATACACA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN6_chr1_11801191_11848130	11829529	T T	TGAACAAC others(409): Show TGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCA CAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGA GGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAAC CCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGG AACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTG GCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACC TGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGT CACAGAGGGGAACCTGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02698.hp2 HG03239.hp1 others(1): Show HG02293.hp1 HG02698.hp2 HG03239.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0036 others(1): Show a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0037	4	241	0.0166	416	c.124 others(433): Show c.1248+380_1248+381insGTCACAGAGGGGAACCTGGGAACAACCC TGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAA CCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGC GTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTG GGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCA CAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGA GGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAAC CCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT1_chr16_58514951_58634826	58586477	A A	AGGGGAGG others(409): Show AGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGA GGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACG GGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGG GGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGG AGAGGGGAAGGGGGAGGGGAGGGGAAGGGGTAGGGAAGGGGGGAAGGGGG ATTAAGGGGGAAGGGGGGAAGGGCGAGGGGAGGGCAAGGGGAAGGGGAGG GGCTTGTCGTCCTTTCTGTGCTGTTCGGTGTGATGCAGGTGCGTTTTCTT GGCGTTTTGCTCTTTTTTCTTGCTTTTCCTGGCTCTTCTTTTCTTTCTTC TTAGGGGCTTTGGTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0173 a0010c0022t0001g0173	1	306	0.0033	416	c.637 others(429): Show c.637+67_637+68insAAAACCAAAGCCCCTAAGAAGAAAGAAAAGAA GAGCCAGGAAAAGCAAGAAAAAAGAGCAAAACGCCAAGAAAACGCACCTG CATCACACCGAACAGCACAGAAAGGACGACAAGCCCCTCCCCTTCCCCTT GCCCTCCCCTCGCCCTTCCCCCCTTCCCCCTTAATCCCCCTTCCCCCCTT CCCTACCCCTTCCCCTCCCCTCCCCCTTCCCCTCTCCCCTCTCCTCCCCT TCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTC CCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCC AGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(409): Show CCCTCCCTCTCCACCTCCCCTCTCTCTCCTCCCCTCTCCACCTCCCCTCT CTCCCTCCCTCTCCACCTCCTCTCTCCCTCCCTCCTCTCCACCCTCCCCT CTCCCTCCCTCCCCTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCC CCTCCCTCTCCACCTCCCCTCTCTCTCTCCTTCCTCCCTCTCCACCCTCC CCCTCTCTCTCCCTCCCCTCTCTCCACCTTCCCCTGTCTCCACCTCCCCT CCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTCTCTCTCTCTCCCTCC CTCCACTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCTCTTCCTC CCTCTCCACCTTCCCCTCTCTCTCCCTCCCTCTCTCCCCTTCCCTGTCTC CACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	68	0.0147	416	c.-42 others(427): Show c.-4215_-4214insCCTCCCTCTCCACCTCCCCTCTCTCTCCTCCCCT CTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCTCTCTCCCTCCCTCC TCTCCACCCTCCCCTCTCCCTCCCTCCCCTCCCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCTTCCT CCCTCTCCACCCTCCCCCTCTCTCTCCCTCCCCTCTCTCCACCTTCCCCT GTCTCCACCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTC TCTCTCTCTCCCTCCCTCCACTCCCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCCTCTTCCTCCCTCTCCACCTTCCCCTCTCTCTCCCTCCCTCTCT CCCCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(409): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 NA18747.hp1 others(1): Show HG01891.hp1 HG01934.hp2 NA18747.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0078 a0001c0001t0002g0181 a0001c0001t0003g0056 others(1): Show a0001c0001t0001g0078 a0001c0001t0002g0181 a0001c0001t0003g0056 a0001c0001t0003g0077	4	273	0.0147	416	c.-52 others(433): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGAGTTAAATTAATTTT GCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGCC GGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGC GCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(409): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01943.hp1 HG01952.hp2 others(5): Show HG01192.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0070 a0001c0001t0003g0052 a0001c0001t0003g0068 others(5): Show a0001c0001t0002g0070 a0001c0001t0003g0052 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0094	8	277	0.0289	416	c.-52 others(433): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGCGGGC GCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(409): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACT GGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATC ATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0038 a0003c0003t0004g0038	1	246	0.0041	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTG CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCACCCCTGCG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	31	0.0323	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCACCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18960.hp2 NA18985.hp2 others(1): Show HG01884.hp1 NA18960.hp2 NA18985.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0255 a0001c0001t0003g0135 a0002c0002t0001g0137 others(1): Show a0001c0001t0001g0255 a0001c0001t0003g0135 a0002c0002t0001g0137 a0002c0002t0001g0138	4	34	0.1176	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	31	0.0323	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCACCCCTGCG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	31	0.0323	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCACCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA1_chr7_43634257_43734523	43691285	G G	GAAAGAAA others(409): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGAGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGA GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAGAAAGAGAGAGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	380	0.0026	416	c.-39 others(435): Show c.-39+38143_-39+38144insTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTCTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCT CTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691293	G G	GAAAGAAA others(409): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGAGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGA GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAGAGAGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0351 a0001c0001t0002g0351	1	381	0.0026	416	c.-39 others(435): Show c.-39+38135_-39+38136insTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45431552	G G	GGGGGACA others(409): Show GGGGGACAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCC GGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTG GGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCG GCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCA GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC AGGGGAGGGGGACAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCA GGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGACCCGGCGGCCCAGGG GAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGAC CTGGCGGCCCAGGGGAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	290	0.0034	416	c.106 others(435): Show c.106+26083_106+26084insACAGGCAGGACCCGGCGGCCCAGGGG AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGACCCGGCGGCC CAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGACAGGCAGGACCTGGCGGCCCAGGGGACGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101417602	G G	GTATATCT others(409): Show GTATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAG ACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTAT ATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAG AGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCT AGACATAGATATAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0110 a0001c0001t0008g0110	1	147	0.0068	416	c.159 others(433): Show c.159-2368_159-2367insCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTAT ATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAG AGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCT AGACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGAT ATATCTCTATATCTAGACATAGATATAGAGATATATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(409): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGGTGATGGTGGT GGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGT TGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGC GGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGA TGGCGGGGGTGGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTG ATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0003 a0003c0015t0003	a0003c0015t0003g0277 a0003c0015t0003g0277	1	20	0.0500	416	c.371 others(435): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT TGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGTGG TGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGC AGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9970255	G G	GTGGGGGC others(409): Show GTGGGGGCTGTGGAGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGG TGTGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGAGTGAGTGGGGTCTGT GGGGTGAGTGGGGTCTGTAGGTGAGTGGGGCCTGTGGGGTGAATGAGGTC TGGGTGAGTGGGGTCTGTGGGTGACTGAGGTCTGTGGGTGAGTGGGATCT GTGGGGTGAGTGAGGTCTGTGGGTGAATGGGAGCTGTGAAGTGAGGGATC TGTGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGGTGAGTGGGGT CTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGGGTAAGCGG GGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGTGTG TGGGGTCTGTGGGGTGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0142 a0001c0142	a0001c0142t0001 a0001c0142t0001	a0001c0142t0001g0147 a0001c0142t0001g0147	1	365	0.0027	416	c.393 others(433): Show c.3937-334_3937-333insTCACCCCACAGACCCCACACACCCACAG ACCCCACTCACCCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCC ACAGACCCCACTCACCCACAGACCCCACTCACCCCACAGACCCCACTCAC CCACAGACCCCACTCACCCACAGACCCCACTCACCCACAGATCCCTCACT TCACAGCTCCCATTCACCCACAGACCTCACTCACCCCACAGATCCCACTC ACCCACAGACCTCAGTCACCCACAGACCCCACTCACCCAGACCTCATTCA CCCCACAGGCCCCACTCACCTACAGACCCCACTCACCCCACAGACCCCAC TCACTCCACAGCCCCCACTCACCCCACAGACCCCACACACCCACAGACCC CACTCACCCCACAGACCCCACTCACTCCACAGCCCCCA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(409): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG GGACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGA GGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGG AAGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGA GGATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGG GACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03492.hp2 HG01123.hp1 HG03492.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0040 a0004c0005t0001g0047 a0004c0005t0001g0040 a0004c0005t0001g0047	2	24	0.0833	416	c.177 others(433): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGG ATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGG ACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGAT CATGGGGGGGACGTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGG GGACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(409): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01993.hp2 HG02083.hp1 others(15): Show HG00609.hp1 HG01993.hp2 HG02083.hp1 HG02273.hp2 HG02300.hp1 NA18612.hp1 NA18939.hp1 NA18950.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18978.hp2 NA18991.hp2 NA19009.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0179 others(1): Show a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0179 a0001c0001t0003g0180	18	291	0.0619	416	c.51+ others(431): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287075	G G	ATAGCATG others(409): Show ATAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACAT ACTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAG CATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTA TGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATG TATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTA TATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATA CTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTATATC ATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTAC ATACTATGTATATCATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01175.hp2 others(1): Show HG00099.hp1 HG00639.hp1 HG01175.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	4	131	0.0305	416	c.51+ others(431): Show c.51+2287_51+2288insATGATATACATAGTATGTAGTATACATGCT ACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTAT GTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACAT GATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAG TATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATA TACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATA CATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATATACA TAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATG CTACATGATATACATAGTATGTAGTATACATGCTAT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCGTG others(409): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACATG GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	321	0.0031	416	c.928 others(431): Show c.928-724_928-723insGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTT ACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(409): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTT TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02300.hp2 HG02735.hp2 HG01192.hp2 HG02300.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0251 a0001c0001t0001g0010 a0001c0001t0001g0251	3	267	0.0112	416	c.463 others(433): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCATCCCTCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(409): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTT TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03831.hp1 NA18906.hp2 others(1): Show HG02615.hp2 HG03831.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0282	4	268	0.0149	416	c.463 others(433): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCATCCCTCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924290	T T	TCCCCACA others(409): Show TCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCG GCCCCCCACACTAACCCAGCACCCACACTGACCCGGCCCCCACACTGACC CGGCCCCCCACACTGACCCAGCCCCCCACACTGACCCAGCCCCCACACTA ACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCCCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0151 a0012c0013t0001g0151	1	151	0.0066	416	c.489 others(433): Show c.489-1418_489-1417insTCCCCACACTAACCCGGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGCACCCACACTGACCCGGCCCCCACAC TGACCCGGCCCCCCACACTGACCCAGCCCCCCACACTGACCCAGCCCCCA CACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACACCCCT others(409): Show ACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCTTC CTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCC TTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTC CACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCA CACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACA CTCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCT CCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCC ACACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTC CCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	140	0.0071	416	c.52 others(427): Show c.5219_*5220insCACCCCTCCTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTT CACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCA CCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTC AACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACAC CTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTC CTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCT CCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATC CCCTCCACACCCCTCCCCCTCCTCACCCCGTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2015		chr15	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATATGTGT others(409): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATATGTGTATATACATATATACACAT ATATGTACACATATATATGTGTATATACATATATACACATATATGTACAC ATATATATGTGTATATACGTATATACACATATATGTACACATATGTGTGT ATATATGTGTGTATATACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18972.hp1 HG02155.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	230	0.0087	416	c.19 others(427): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTATATATGTATATACACATATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGTA TATACACATATATGTATATACACACACATATACACACATATATGTACACA TATATATGTGTATATACATATACACACATATATGTACACATATATGTGTG TATATACATATATACACATATATGTACACATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(409): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTGTATACACA TATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTG TGTATATGTGTGTATATATACATATATGTGTATATACGTATATACACATG TGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	416	c.19 others(427): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATACACATATAT ACACATATATATGTGTATATACATATATACACATATATGTACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATGTACACATATATATGTGTATATACATATATAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATGT ACACATATATATGTGTATATACATATATACACATATATGTACACATATAT ATGTGTATATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATATGTGT others(409): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATATGTGTATATACATATATACACAT ATATGTACACATATATATGTGTATATACATATATACACATATATGTACAC ATATATATGTGTATATACGTATATACACATATATGTACACATATGTGTGT ATATATGTGTGTATATACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18972.hp1 HG02155.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	237	0.0084	416	c.19 others(427): Show c.1955_*1956insTATGTGTACATATATGTGTATATATGTATATACA CACATATATGTGTACATATATGTGTGTATATGTATATACACATATATATG TGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATA CACACACATATACACACATATATGTACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATATGTGTATA TACATATATACACATATATGTACACATATATATGTGTATATACATATATA CACATATATGTACACATATATATGTGTATATACGTATATACACATATATG TACACATATGTGTGTATATATGTGTGTATATACATATATGTGTACATATA TGTGTGTATATGTGTGTGTATATACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(409): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTGTATACACA TATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTG TGTATATGTGTGTATATATACATATATGTGTATATACGTATATACACATG TGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	118	0.0085	416	c.19 others(427): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAT ATATGTGTATACACATATATATGTGTATATATGTATATACACATATATAT GTGTACATATATGTGTGTATATGTGTGTATATATACATATATGTGTATAT ACGTATATACACATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(409): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGG GGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0102 a0002c0002t0017g0102	1	197	0.0051	416	c.923 others(435): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCAC TCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCC TCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCC TCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DHRSX_chrX_2214506_2505976	2314352	G G	GCAGGGAG others(409): Show GCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGG AAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAG GGAAAGGAGGGAGGGAGGGAGGGAAGCAGGGAAGGAGGGAGGCAGGGAGG GAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGA AAGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAAGGAGGGAGGGAGGGAG GGAAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGG AAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAA GGAGGGAGGGAGGGAAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGG GAGGGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18612.hp1 NA18948.hp1 others(2): Show HG02300.hp1 NA18612.hp1 NA18948.hp1 NA18952.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0017 a0002c0002t0002g0013 a0002c0002t0002g0026 others(2): Show a0001c0001t0001g0017 a0002c0002t0002g0013 a0002c0002t0002g0026 a0002c0002t0002g0042 a0002c0002t0002g0045	5	37	0.1351	416	c.287 others(435): Show c.287-22750_287-22749insTCTCCCTTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCCTCCTTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTC CCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTCCC TCCCTCCTTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCTTTCCCTCCCT CCCTCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCCTCCCTGC CTCCCTCCTTCCCTGCTTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCC TCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTG CCTTCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314358	A A	AGGGAAGG others(409): Show AGGGAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAG GGAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAAGC AGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGGAAGCAGG AAGGAGGGAGGGAGGGAGGGAAAGAGGGAAGGAGGGAGGGAGGGAGGGAG GGAAAGGAGGGAGGGAGGGAGGGGAGGAAGCAGGGAAGGAGGGAGGGAGG GAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAAAGGAGGAGG GAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGG AGGGAAGGGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	40	0.0250	416	c.287 others(435): Show c.287-22756_287-22755insCCCTCTCTCCCTTCCCTCCCTCCCTC CCTCCTTCCCTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCTCCT TTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCCTGCTTCCTCCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCC TCCCTCCCTCCTTCCCTCTTTCCCTCCCTCCCTCCCTCCTTCCTGCTTCC CTCCCTGCCTTCCTCCTTCCCTCCCTGCCTCCCTCCTTCCTGCTTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCC TCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2C_chr10_269201_694668	417622	G G	GCCTGTCA others(409): Show GCCTGTCAGGGTTCGAATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTC AAATAGGCCTCCCTGTCTGCCTGCGCCTGTCAGAGCTCGGACAGGCCTCC CTGTCCACCTACACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGT TCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGC TCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCT GCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGG GCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGACAGGC CTCCCTGTCCACCTGCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	20	0.0500	416	c.739 others(433): Show c.739+1442_739+1443insTGCAGGTGGACAGGGAGGCCTGTCCGAG CCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGGTG CAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGTGCAGGTGGACAGG GAGGCCTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCG AGCCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGG AACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACA GGGAGGCCTGTCCGCGCCCTGACAGGTGTAGGTGGACAGGGAGGCCTGTC CGAGCTCTGACAGGCGCAGGCAGACAGGGAGGCCTATTTGAGCCGACAGG CACAGGCGGACAGGGAGGCCTATTCGAACCCTGACAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(409): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATAATTA TAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTTTATAA TAATATTATATAATATGTATTAATAACATATAATATAATATACAATCTAT TACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01192.hp1 NA21309.hp1 HG00735.hp1 HG01192.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	3	6	0.5000	416	c.40 others(427): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATTAATA TTATTATAATTATTATAATAGTATATAATATAATTATATATTACATATTA TTATATATAATATAATATATAATATAACATATTATATATTATTATATATA ATATAATATATAATATATTATTATATATAATATAATATATAATATATTAT ATATTATAATAATATATATGTTATGTAATATATAATATATTATATATAAT AATATATAATATAATATATAATATATTAAGATTATATATGATATGTAATA TATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(409): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTC GGGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGAT TGGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	320	0.0031	416	c.-99 others(431): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAG AGACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCC ACCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGG CACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGC GGATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAA ACCCCATCTCTACTAAAAATACAAAATTAGCCAGGC	FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1			chr7	TogoVar
FLT3_chr13_27998274_28105576	27999041	A A	AAATATAT others(409): Show AAATATATATGTATATACATATATATGTATGTATATTATATACTTATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATTTACATACATATAAATATATATTTACATACATATAAATATATATA TTTATATACATATAATACATATACATATATACATATAAATATATATTTAT ATACATATAAATATATATATTTTATATATATTTATATACATATAAATATA TATATTTTATATATATTTATATACATATAAATATATATATTTTATATATA TTTATATACATATAAATATATATATTTTATATATATTTATATACATATAA ATATATATATTTTATATATATTTATATATATAATATATATTTATATATAT ATATAAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0144 a0001c0004t0006g0144	1	277	0.0036	416	c.50 others(427): Show c.5010_*5011insAATATATATATTTATATATATATATAAATATATA TTATATATATAAATATATATAAAATATATATATTTATATGTATATAAATA TATATAAAATATATATATTTATATGTATATAAATATATATAAAATATATA TATTTATATGTATATAAATATATATAAAATATATATATTTATATGTATAT AAATATATATAAAATATATATATTTATATGTATATAAATATATATTTATA TGTATATATGTATATGTATTATATGTATATAAATATATATATTTATATGT ATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATAAGTATATAATA TACATACATATATATGTATATACATATATATT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4232		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71435244	A A	AAGGAAGG others(409): Show AAGGAAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGACGTAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG GACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG GAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0042 a0001c0001t0021g0042	1	81	0.0123	416	c.-16 others(437): Show c.-168+58181_-168+58182insCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTACGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(409): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGTAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0067 a0001c0001t0071g0067	1	78	0.0128	416	c.-16 others(437): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTACGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(409): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGTAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0096	1	78	0.0128	416	c.-16 others(437): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTACGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(409): Show GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGG GAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAG GAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAGGAAGGGAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0093 a0001c0001t0041g0093	1	11	0.0909	416	c.-16 others(437): Show c.-168+57738_-168+57739insGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCT CCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC TTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435827	C C	CGGAGGGA others(409): Show CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0060 a0001c0001t0068g0060	1	89	0.0112	416	c.-16 others(437): Show c.-168+57598_-168+57599insCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC TTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(409): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCCCCCTCCAGCCCACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCCGCCCACCCCCCTCCCGCCCCC CTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCA GCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTAT CCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGC CCACCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	114	0.0088	416	c.33 others(427): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCCACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCCGCCCAC CCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCT CCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCG CCCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCC TACCCCTCCCCCCGCCCACCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(409): Show CCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACC CATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCT CCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCC GCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCC TCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAG CCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACC CCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCC CACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	114	0.0088	416	c.33 others(427): Show c.3310_*3311insCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCCT CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCT ACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTC CCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCA CCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACC CCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTC CCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGC CCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCT ACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GMDS_chr6_1618806_2250605	1927268	T T	TTTTTATT others(409): Show TTTTTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCG TGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGTATTTTTATTCAGAGGGTAGGGTGTTGCTGTATTT TTATTCAGAGGTTAGCGTGTTGATGTATTTTTATTCGAAGGGTAGCGTGT TGGTGTATTTTTATTCAGAGGGTAGGGTGTGGATGTATTTTTATTCAGAG GGTAGCATGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTT TTATTCAGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAGGGTAGCGTGT TGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAGAG GGTAGCGTGTTGGTGTA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	163	0.0061	416	c.771 others(433): Show c.771+2834_771+2835insTACACCAACACGCTACCCTCTGAATCAA AATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAACACGCTACCC TCCGAATAAAAATACAGCAACACGCTACCCTCTGAATAAAAATACATCAA CACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCTCTGAATAAA AATACATCCACACCCTACCCTCTGAATAAAAATACACCAACACGCTACCC TTCGAATAAAAATACATCAACACGCTAACCTCTGAATAAAAATACAGCAA CACCCTACCCTCTGAATAAAAATACAACACGCTACCCTCTGAATAAAAAT ACACCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACAGCAACACCCTACCCTCTGAATAAAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(409): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	243	0.0041	416	c.31 others(427): Show c.3138_*3139insGGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCC AGGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCC ACACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGC ACGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(409): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTG CCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCC GTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	243	0.0041	416	c.31 others(427): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar

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