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
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(284): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0047 a0004c0005t0001g0047	1	216	0.0046	291	c.85- others(308): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(284): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCC CCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01993.hp2 NA19086.hp1 HG01952.hp1 HG01993.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0002t0001g0167 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0002t0001g0167	3	304	0.0099	291	c.510 others(310): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTC TCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(284): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGG AGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCA CCACCACGCCCAGCTAATTTTTTTTTGTATTTTTAGTAGACACAGGGTTT CACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0011 a0001c0001t0020g0011	1	146	0.0068	291	c.-16 others(302): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTC TGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTGTATTTTTA GTAGACACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGAC CTCGTGA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(284): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTG GAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC ACCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTT CACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0112 a0001c0001t0033g0112	1	146	0.0068	291	c.-16 others(302): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTTTTCTCT CTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTGTATTTTTA GTAGACACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGAC CTCGTGA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(284): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAAAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGA GGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0077 a0001c0025t0003g0077	1	16	0.0625	291	c.416 others(312): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCTCCCCTC TCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTTTCCCCCTC CCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCC TCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(284): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATTATATATGATA TATGATATATGATATATTATAATATATTATATATGATATTATATTATATT ATATATTATATCATATATTATATAATATATTATATTATATATAATATTAT ATATTATATAATATATAATATATATTATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0083 a0001c0005t0001g0083	1	94	0.0106	291	c.150 others(310): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATTATATATGATATATGATATATGATATATTATAATATAT TATATATGATATTATATTATATTATATATTATATCATATATTATATAATA TATTATATTATATATAATATTATATATTATATAATATATAATATATATTA TATTATATATTATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(284): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	164	0.0061	291	c.-42 others(302): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(284): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	164	0.0061	291	c.-42 others(302): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(284): Show TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	307	0.0033	291	c.-42 others(302): Show c.-4255_-4254insGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGG TGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(284): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	307	0.0033	291	c.-42 others(302): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(284): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATACATA TAATATATACATATATTATATACATATAATATATACATATATTATATACA TATAATATATACATATATTATATACATATAATATATACATATATTATATA CATATAATATATACATATATTATATACATATAATATATACATATATTATA TACATATAATATATACATATATTATATACATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0052 a0001c0003t0026 a0001c0003t0052	a0001c0003t0026g0070 a0001c0003t0052g0138 a0001c0003t0026g0070 a0001c0003t0052g0138	2	5	0.4000	291	c.126 others(308): Show c.126+1125_126+1126insGTATATATTATATGTATATAATATATGT ATATATTATATGTATATAATATATGTATATATTATATGTATATAATATAT GTATATATTATATGTATATAATATATGTATATATTATATGTATATAATAT ATGTATATATTATATGTATATAATATATGTATATATTATATGTATATAAT ATATGTATATATTATATGTATATAATATATAATTATATATTATATATCAT AATATGTAATATATAATTATATATTACATATATATATTTTAATATATATA ATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DIP2C_chr10_269201_694668	608535	A A	ACACACAC others(284): Show ACACACACACACCCCCCCCACACACACACACACCCCCCCCCACACACACA CACACCCCCCCCCCCACACACACCCCCCCCCCCACACACACCCCCCCCCA CACACACACCCCCCCCACACACACACACCCCCCCACACACACACACACCC CCACACACACACACCCCCCCCCACACACACACACATCCCCCCCCCACACA CACACATCCCCCCCCACACACACACACATCCCCCCCCACACACACACATC CCCCCCACACACACACACATCCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0071	1	36	0.0278	291	c.85+ others(308): Show c.85+80958_85+80959insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTG GGGGGGGATGTGTGTGTGTGGGGGGGGGATGTGTGTGTGTGTGGGGGGGG GTGTGTGTGTGTGGGGGTGTGTGTGTGTGTGGGGGGGTGTGTGTGTGTGG GGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGGGGGGGGGGGTGTGTGTG GGGGGGGGGGTGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGG GGGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	663905	C C	CCTCCCCA others(284): Show CCTCCCCACAAGGGCTCCAGGAGGCCACACCAGAGGGTGGGAGGCAGGGG TGACACTCAACACCTCAGGCACCGAGGACGGCCTCCTCCCAACAAATGCT CCCCACAAGGGCTACGGGAGGCCACACCAGACGGTGGGAGGCAGGGGTGA CACTCAACACCTCAGGCACCGAGGACGGCCTCCTCCCAACAAATGCTCCC CACAAGGGCTACGGGAGGCCACACCAGACGGTGGGAGGCAGGGGTGACAC TCAGCACCGCAGGCACCGAGGACGGCCTCCTCCCCACAAATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	87	0.0115	291	c.85+ others(308): Show c.85+25588_85+25589insCATTTGTGGGGAGGAGGCCGTCCTCGGT GCCTGCGGTGCTGAGTGTCACCCCTGCCTCCCACCGTCTGGTGTGGCCTC CCGTAGCCCTTGTGGGGAGCATTTGTTGGGAGGAGGCCGTCCTCGGTGCC TGAGGTGTTGAGTGTCACCCCTGCCTCCCACCGTCTGGTGTGGCCTCCCG TAGCCCTTGTGGGGAGCATTTGTTGGGAGGAGGCCGTCCTCGGTGCCTGA GGTGTTGAGTGTCACCCCTGCCTCCCACCCTCTGGTGTGGCCTCCTGGAG CCCTTGTGGGGAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38053589	G G	GCCCGGCC others(284): Show GCCCGGCCAGCCGCCCAGTCCAGGAGGGAGGTGGGGGGCAGCCCCCACCC GGCCAGCCGCCCCATCCGGGAGGTGGGGGGCGCCTCTGCCCGGCCGCGAC CCCGTCTGGGAGGTGAGGAGCATCTCTGCCCAGCCGCCCTGTCTGAGAAG TGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGT CTCCACCCGGCAGCTGCCCCGTCCGGGAGGTGGGGGGCAGCCCCCGCCCG GCCAGCCGCCCAGTCCAGGAGGGAGGTGGGGGGCAGCCCCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0018 a0018	a0018c0037 a0018c0037	a0018c0037t0002 a0018c0037t0002	a0018c0037t0002g0010 a0018c0037t0002g0010	1	111	0.0090	291	c.563 others(308): Show c.563-6138_563-6137insAGTCCAGGAGGGAGGTGGGGGGCAGCCC CCACCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGCGCCTCTGCCCGGC CGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCAGCCGCCCTGTCT GAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAG GAGCGTCTCCACCCGGCAGCTGCCCCGTCCGGGAGGTGGGGGGCAGCCCC CGCCCGGCCAGCCGCCCAGTCCAGGAGGGAGGTGGGGGGCAGCCCCCACC CGGCCAGCCGCCC	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAH10_chr12_123757301_123940714	123911580	G G	GGGGGGGG others(284): Show GGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGG GGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGTTC TGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCT GGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG AGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0146 a0008c0009t0002g0146	1	126	0.0079	291	c.101 others(310): Show c.10134+914_10134+915insGTCTGTCCTGGGGGGGGGTCTGTCCT GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGG GTCTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGTTTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCT GGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGG GGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(284): Show ATATATATATATATATATATATATACACATACATATACATATATACACAT ACATATACATATATACACATACATATACATATATACACATACATATATAT ACATATATATACATATATATATACGTATATATATATACGTGTATATATAT ACACGTATATATATATACGTGTGTATATATACACATATATATATACACAT ATATATATACACATATATATATACACATATATATATATACACATATATAT ATACACATATATATATACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0041 a0041	a0041c0073 a0041c0073	a0041c0073t0001 a0041c0073t0001	a0041c0073t0001g0075 a0041c0073t0001g0075	1	82	0.0122	291	c.730 others(310): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTGT ATATATATATGTGTATATATATATGTGTATATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATACACACGT ATATATATATACGTGTATATATATACACGTATATATATATACGTATATAT ATATGTATATATATGTATATATATGTATGTGTATATATGTATATGTATGT GTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATATATAT ATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK1_chr10_126900428_127457516	126948085	G G	GTGGTGGT others(284): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTA CTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0122 a0001c0004t0002g0122	1	128	0.0078	291	c.47- others(308): Show c.47-22579_47-22578insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948252	G G	GTGGTTGG others(284): Show GTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0004 a0004c0013t0004	a0004c0013t0004g0125 a0004c0013t0004g0125	1	124	0.0081	291	c.47- others(308): Show c.47-22446_47-22445insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400193	T T	TCACCATC others(284): Show TCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC TCCTCCATCACCACCACCTTCTCCACCATCACCACCTCCTCCATCACCAC CACCTTCTCCACCATCACCACCACCTCCACCATCACCACCTCCTCCATCA CCACCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0065 a0001c0029t0001g0065	1	236	0.0042	291	c.323 others(308): Show c.3234+955_3234+956insCATCACCACCACCTCCACCATCACCACC TCCTCCATCACCACCACCTTCTCCACCATCACCACCTCCTCCATCACCAC CACCTTCTCCACCATCACCACCACCTCCACCATCACCACCTCCTCCATCA CCACCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCACCTCCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EGFR_chr7_55014017_55216628	55167251	A A	ATGGTGGT others(284): Show ATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACA ATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACA ATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACA GTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAGGTGGGAGTCACA ACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAGGTGGGAGTCACA ATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 NA19240.hp2 others(1): Show HG02559.hp2 HG02965.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0076 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0076	4	245	0.0163	291	c.188 others(310): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EVA1C_chr21_32407706_32520387	32477700	A A	ACCTCCCC others(284): Show ACCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCC CCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTC ACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCC CCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTC CCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCG CCATACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	295	0.0034	291	c.634 others(308): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCGCCATACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCT CCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCC CCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAC others(284): Show TCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCC CCATCCTCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCATCCTCT TTCCTCCCTCCCCCATCCCCTTTTCTTCCTCCCCATCCTCTTTCCTCCCT CCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18522.hp2 HG02622.hp1 NA18522.hp2	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0014 a0015c0015t0014	a0015c0015t0014g0036 a0015c0015t0014g0037 a0015c0015t0014g0036 a0015c0015t0014g0037	2	32	0.0625	291	c.119 others(308): Show c.119+6912_119+6913insGAGGGAGAAAGGGGATGGGGGAGGGAGG AAAGGGGATGGGGGAGGGAGGAAAGAGGATGGGGAGGAAGAAAAGGGGAT GGGGGAGGGAGGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGG AGGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGG GATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGG AGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGA AAGGGGGTGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(284): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCAGGGGTAGTGGCGGGCGCCTGTAGTCC CCGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	142	0.0070	291	c.173 others(310): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCGGGGACTACAGGCGCCCGCCACTACCCCTGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGTCAAGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(284): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp2 HG02280.hp1 others(10): Show HG00423.hp1 HG00741.hp2 HG02280.hp1 HG03098.hp2 NA18948.hp1 NA18948.hp2 NA18967.hp2 NA19000.hp1 NA19006.hp1 NA19012.hp1 NA19066.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0113	13	154	0.0844	291	c.173 others(310): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGTCAAGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(284): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCC TCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTT CTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCT CCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT TCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01168.hp1 others(4): Show HG00099.hp1 HG00642.hp2 HG01168.hp1 HG01192.hp2 HG01261.hp2 HG01516.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0025 a0001c0001 a0001c0020 a0001c0025	a0001c0001t0001 a0001c0020t0001 a0001c0025t0001 a0001c0001t0001 a0001c0020t0001 a0001c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0020t0001g0117 a0001c0025t0001g0001	7	226	0.0310	291	c.215 others(308): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCT CTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCC TCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTT CCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(284): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0275 a0001c0003t0001g0275	1	260	0.0038	291	c.189 others(310): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(284): Show AATATATATATTTATATACATATAAATATATATTTATATACATATAAATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATATAAATATATGTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0185 a0003c0003t0001g0185	1	95	0.0105	291	c.50 others(302): Show c.5093_*5094insATAACATATATTTATATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
FOXJ3_chr1_42171548_42340235	42222007	G G	GGGGAGGA others(284): Show GGGGAGGAGGGGGAGGGGGAGGAGGGGGGGGAGGGGGAGGAGGGGGAGGA GGGGGGGGAGGGGGGGGAGGGGGGGGAGGAGGGGGAGGGGGAGGAGGGGG AGGGGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGAGGAGGAGGAGAAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	299	0.0033	291	c.528 others(308): Show c.528+5875_528+5876insTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTTC TCCTCCTCCTCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCCCTCCC CCCCCTCCCCCCCCTCCTCCCCCTCCTCCCCCTCCCCCCCCTCCTCCCCC TCCCCCTCCTCCC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CCGGGGGG others(284): Show CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC AGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCA GTGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGCCAG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGCCAGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	242	0.0041	291	c.157 others(306): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGA AAGGTGGCCAGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGCCAGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586453	G G	GGGGAAAG others(284): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0050 a0003c0004t0050	a0003c0004t0050g0133 a0003c0004t0050g0133	1	289	0.0035	291	c.157 others(308): Show c.1576+256_1576+257insAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCA AAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCAGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586551	A A	AGGGGAAT others(284): Show AGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAG GGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	172	0.0058	291	c.157 others(308): Show c.1576+357_1576+358insTGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGAGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTA GGCCGGGGGGGAA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89360770	C C	CTCCACCA others(284): Show CTCCACCACCACCACCTCCAGCACCACCTCCAGCACTACCTCCACCACCA CCTCCACCACCACCACCTCCAGCACCACCTCCAGCACTACCTCCACCACC ACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCAC CACCTCCACCACCACCACCTCCAGCACCACCTCCAGCACCACCTCCACCA CCACCTCCACCACCACCACCTCCAGCACCACCTCCAGCACTACCTCCACC ACCACCTCCACCACCACCACCTCCAGCACCACCTCCAGCACT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0008 a0001c0001t0029g0008	1	221	0.0045	291	c.544 others(308): Show c.544-9963_544-9962insAGTGCTGGAGGTGGTGCTGGAGGTGGTG GTGGTGGAGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTGCTGGAGGTGGT GGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGCTGGAGGTGG TGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTG GTGGTGGTGGAGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTGCTGGAGGT GGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTGCTGGAGG TGGTGGTGGTGGA	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(284): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCC CGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA GCGCCCTCCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCC CCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	170	0.0059	291	c.109 others(306): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTT GGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAG GGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGG GCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTG GGGGGAGGGCG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(284): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGGG CGGGGGTGGGGGGGGGATGGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GGGGGAGGGGATGGGCGGGCGGGGGGGGGGGGGGATGGGGCGGGGGGGGG GGGAGGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	19	0.0526	291	c.-20 others(300): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGGGCGGGGGTGGGGGGGGGATGGGGGGCGGGGGGGAGGGG AGGGGGCGGGGGGGGGGGAGGGGATGGGCGGGCGGGGGGGGGGGGGGATG GGGCGGGGGGGGGGGGAGGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGA GGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAS6_chr13_113815549_113869076	113826579	T T	CGGCCTCG others(284): Show CGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAG GCACCTTCTCTCCCCCGCCTCCTGGCGCCAGCCTCGGCTTCGCGGGCACC TTCTCTCCCCGGCCTCCTGGCGCCAGCCTCGGCTTCGCGGGCACCTTCTC TCCCCGGCCTCCCGGCGCCGGCCTTGCAGGCACCTTCTCTCCCCAGCCTC CCGGCGCCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTCCCGGC GCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCTGGCACT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	62	0.0161	291	c.147 others(308): Show c.1477+417_1477+418insGTGCCAGGAGGCCGGGGAGAGAAGGTGC CTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCG AGGCTGGCGCCGGGAGGCTGGGGAGAGAAGGTGCCTGCAAGGCCGGCGCC GGGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCAGGAG GCCGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCAGGAGGCGGG GGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGT GCCTGCGAGGCCG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GPATCH2_chr1_217421992_217636090	217478670	T T	TAAAAAGT others(284): Show TAAAAAGTGGGAAATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp2 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0182 a0001c0001t0022g0183 a0001c0001t0022g0182 a0001c0001t0022g0183	2	186	0.0108	291	c.127 others(312): Show c.1277+13009_1277+13010insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACATTTCCCACTTTTT	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	8/9			chr1	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(284): Show TCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0230 a0005c0011t0012g0230	1	175	0.0057	291	c.427 others(308): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169637	A A	ATATATAA others(284): Show ATATATAATATATTGTATATTACATATATTGTATATTATATAATATATTG TATATTATATAATATATTGTATATTATATAATATATAGTATATTATATAA TATATAGTATATTGTATATTATATAGTATATTGTATATTATATATAATAT ATTGTATATTATATATAATATATTGTATATTGTATATAATATATTGTATA TTGTATATAATATATTGTATATTGTATATAATATATTGTATATTGTATAT AATATATTGTATATTATATATAATATATTGTATATTATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0186 a0001c0001t0100g0186	1	358	0.0028	291	c.-34 others(306): Show c.-34-833_-34-832insTATATAATATATTGTATATTACATATATTG TATATTATATAATATATTGTATATTATATAATATATTGTATATTATATAA TATATAGTATATTATATAATATATAGTATATTGTATATTATATAGTATAT TGTATATTATATATAATATATTGTATATTATATATAATATATTGTATATT GTATATAATATATTGTATATTGTATATAATATATTGTATATTGTATATAA TATATTGTATATTGTATATAATATATTGTATATTATATATAATATATTGT ATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TGTATATT others(284): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAA TATATAATATATTGTATATTATATATAATATATTGTATATTATATATTAT ATAATATATTGTATATTATATATTATATAATATATTGTATATTATATATT ATATAATATATTGTATATTATATATTATATAATATATTGTATATTATATA ATATATTGTATATTATATATTATATAATATATTGTATATTATATATTATA TAATATATAATATACAATATATTATATAATATATAATATACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	298	0.0034	291	c.-34 others(306): Show c.-34-790_-34-789insGTATATTATATAATATATTGTATATTATAT AATATATTGTATATTGTAATATATAATATATTGTATATTATATATAATAT ATTGTATATTATATATTATATAATATATTGTATATTATATATTATATAAT ATATTGTATATTATATATTATATAATATATTGTATATTATATATTATATA ATATATTGTATATTATATAATATATTGTATATTATATATTATATAATATA TTGTATATTATATATTATATAATATATAATATACAATATATTATATAATA TATAATATACA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTPBP6_chrX_299759_323796	312225	C C	CTGGGGCA others(284): Show CTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGA CATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATG GGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACAT TGTGGTGTACACGGGTGGATTATGTAGACGGCGTGGTGGTATAGATGGGG TAGTGGTGCTGGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACATTGT GGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	151	0.0066	291	c.916 others(306): Show c.916+540_916+541insTCTATACCACCACCCCGTCTACATAATCCA CCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACA CCAGCACCACTACCCCATCTATACCACCACGCCGTCTACATAATCCACCC GTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTG GCACCACTGCCCCATCTATACCACCACCCCGTCTACATAATCCACCCGTG TACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCA CCACTGCCCCA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	6/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	312273	A A	AACATTGT others(284): Show AACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGC TGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGAC ATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGG GGTAGTGGTGCTGGTGTAGACAGGAGGACAGTGCAGACGAAGGGGACATT GTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGC AGTGATGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp2 HG02615.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0031 a0001c0003 a0002c0031	a0001c0003t0003 a0002c0031t0001 a0001c0003t0003 a0002c0031t0001	a0001c0003t0003g0141 a0002c0031t0001g0067 a0001c0003t0003g0141 a0002c0031t0001g0067	2	8	0.2500	291	c.916 others(306): Show c.916+492_916+493insCCCCTTCGTCTGCACCGTCCTCCTGTCTAC ACTGGCATCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACC CGTGTACACCACAATGTCCCCTTCGTCTGCACTGTCCTCCTGTCTACACC AGCACCACTACCCCATCTATACCACCACCCCGTCTACATAATCCACCCGT GTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGC ACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTA CACCACAATGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	6/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(284): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0060 a0001c0003t0003g0060	1	104	0.0096	291	c.-37 others(302): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTTTTTT TTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106710005	T T	TTATATAC others(284): Show TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATG TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATATAGTTATGTATATTATATACATGTATATAACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0082 a0001c0001t0071g0082	1	158	0.0063	291	c.183 others(310): Show c.1837-1340_1837-1339insTGTTATATACATGTATATAATATACA TAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATAT ACATGTATATAATATACATAACTATATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTAT ATACATGTATATAATATACATAACTATATGTTATATACATGTATATAATA TACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTT ATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(284): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0248 a0001c0003t0014g0248	1	225	0.0044	291	c.-48 others(302): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCACATTG TGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(284): Show GCATTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA18906.hp1 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0326 a0001c0001t0001g0327	2	97	0.0206	291	c.-43 others(302): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAGA AAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HBQ1_chr16_175459_186179	186119	G G	GGAGGAAC others(284): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	291	c.50 others(302): Show c.5011_*5012insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACA CGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4941		chr16	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(284): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACCA CCATCACCACCTCTACCACCACCATCACCACCACCACCATCACCACCTCT ACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCATCAC CACCACCACCACCACCACCTCTACCACCACCATCACTACTACCACCACCA CCACCTCTACCACCACCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp2 HG01167.hp2 HG02896.hp2	a0006 a0023 a0006 a0023	a0006c0031 a0023c0030 a0006c0031 a0023c0030	a0006c0031t0010 a0023c0030t0025 a0006c0031t0010 a0023c0030t0025	a0006c0031t0010g0073 a0023c0030t0025g0090 a0006c0031t0010g0073 a0023c0030t0025g0090	2	20	0.1000	291	c.520 others(312): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGAGGTGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGT GGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAG GTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HS3ST3A1_chr17_13489032_13606929	13533514	T T	TGAAGTTA others(284): Show TGAAGTTATTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG01123.hp2 others(7): Show HG00558.hp1 HG01106.hp1 HG01123.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG02280.hp2 HG03017.hp2 NA18978.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0003 a0001c0001t0031 a0001c0001t0080 others(4): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0080 a0001c0002t0001 a0001c0002t0013 a0001c0002t0058 a0001c0009t0003	a0001c0001t0003g0172 a0001c0001t0031g0197 a0001c0001t0080g0331 others(7): Show a0001c0001t0003g0172 a0001c0001t0031g0197 a0001c0001t0080g0331 a0001c0002t0001g0110 a0001c0002t0001g0147 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0013g0210 a0001c0002t0058g0205 a0001c0009t0003g0232	10	265	0.0377	291	c.600 others(310): Show c.600-36697_600-36696insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAATTAATAACTTC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(284): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	54	0.0185	291	c.349 others(310): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33323194	T T	TATATATA others(284): Show TATATATATATGGAATATATATATATGGAATATATATATGGAATGTATAT ATGGAATATATATATGGAATGTATATATGGAATGTATATGTGGAATGTAT ATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATG TGGAATGTATATGTGGAATGTATATGTGGAATGTATATATGTGGAATGTA TATGTGGAATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0010 a0003c0003t0004g0124 a0003c0003t0004g0010 a0003c0003t0004g0124	2	309	0.0065	291	c.-18 others(302): Show c.-1862_-1861insATATATATATGGAATATATATATATGGAATATAT ATATGGAATGTATATATGGAATATATATATGGAATGTATATATGGAATGT ATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATG TGGAATGTATATATGTGGAATGTATATGTGGAATGTATATGTGGAATGTA TATATGTGGAATGTATATGTGGAATATATATATATGGAATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1775		chr21	TogoVar

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