Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(367): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02451.hp1 HG03209.hp2 HG01361.hp1 HG02451.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0174	3	372	0.0081	374	c.894 others(389): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATAC		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(367): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACGTGTATATATA CTCATATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	372	0.0027	374	c.894 others(389): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACACGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATAC		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575820	A A	ATGAGTAT others(367): Show ATGAGTATATACACGCGTATATATACTCATATACATGTGTATATACACGC GTATATATACTCATATACATGTGTATATACACGCGTATATATACTCATAT ACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACAC GCGTATATATACTCATATACATGTGTATATACACGCGTATATATACTCAT ATACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATAC ACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATACTC ATATACATGTGTATATACACGCGTATATATACTCATATACATGTGTATAT ACACGTATATATACTCATATACATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0334 a0001c0001t0004g0334	1	372	0.0027	374	c.894 others(389): Show c.894+450_894+451insCATGTATATGAGTATATATACGTGTATATA CACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTA TATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATA TACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAG TATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTA TATACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATG AGTATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTG TATATACACATGTATATGAGTATATATACGCGTGTATATACTCA		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(367): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGG GGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG01081.hp2 others(19): Show HG00323.hp1 HG00423.hp1 HG01081.hp2 HG01106.hp1 HG01515.hp1 HG01517.hp2 HG02257.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp2 HG03098.hp2 HG03225.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG04184.hp1 NA18522.hp1 NA18906.hp2 NA19011.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0001c0024 others(2): Show a0001c0001 a0001c0005 a0001c0024 a0002c0021 a0005c0015	a0001c0001t0001 a0001c0005t0001 a0001c0024t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0024t0001 a0002c0021t0001 a0005c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0187 a0001c0001t0001g0191 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0005t0001g0192 a0001c0005t0001g0222 a0001c0005t0001g0223 a0001c0005t0001g0224 a0001c0024t0001g0190 a0002c0021t0001g0198 a0005c0015t0001g0216	22	308	0.0714	374	c.637 others(389): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48						chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124811956	A A	ATTTTTTA others(367): Show ATTTTTTATAATATATATAAAATTTATATTTATATATTATATAATATAAA ATTTATATTTATATATTATATAATATATAATTTATATTTATATATTATAT AATATATAATTTATATTTATATATTATATAATATATAATTTATATTTATA TATTATATTATATATTTATATTATATATTATATAATATATAATTTATATT TATATATTATATAATATATAATTTATATATATATTATATAATATATAATT TATATTATATATTATATAATATATTTTATATTTGTATATTATATAATATA TAATTTATATTATATATTATATATATAATTTATATTATATATATAATATG TAATATATATTATATAATTTATATT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	64	0.0156	374	c.321 others(395): Show c.3217+13637_3217+13638insTTTTTATAATATATATAAAATTTA TATTTATATATTATATAATATAAAATTTATATTTATATATTATATAATAT ATAATTTATATTTATATATTATATAATATATAATTTATATTTATATATTA TATAATATATAATTTATATTTATATATTATATTATATATTTATATTATAT ATTATATAATATATAATTTATATTTATATATTATATAATATATAATTTAT ATATATATTATATAATATATAATTTATATTATATATTATATAATATATTT TATATTTGTATATTATATAATATATAATTTATATTATATATTATATATAT AATTTATATTATATATATAATATGTAATATATATTATATAATTTATATTT		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL19A1_chr6_69861556_70217468	69920962	G G	GTATATTC others(367): Show GTATATTCATATATATGATATATATCATATATACATATGATATATACATG ATATATATGATATATATGATACATATGATATATATGATATATATGATACA TATGATATATATGATATATATATGATACAAATGATATATATGATATATAT GATATATATCAGATATATATATCATATATATCATTTGTATCATATATACA TCATATATATCATATGTATCATATATATCATGTATATATCATATATATCA TATATATCATATATGTATTCATATATATCATATATATTCATATATCATAT ATATTCATATATCATATATATTCATATATATCATATATATTCATATATAT ATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp1 HG03098.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0018 a0002c0004t0019 a0002c0003t0018 a0002c0004t0019	a0002c0003t0018g0138 a0002c0004t0019g0011 a0002c0003t0018g0138 a0002c0004t0019g0011	2	182	0.0110	374	c.267 others(391): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATTTGTAT CATATATACATCATATATATCATATGTATCATATATATCATGTATATATC ATATATATCATATATATCATATATGTATTCATATATATCATATATATTCA TATATCATATATATTCATATATCATATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATATATATCATATATATTCATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL6A1_chr21_45976770_46010048	45987794	G G	GTCCAGAT others(367): Show GTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCC AGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAG ATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAG GGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGA CGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG CGGGGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGTG GTCCAGATGGAGGGGACGGCGGGGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0056 a0002c0001t0001g0056	1	128	0.0078	374	c.804 others(389): Show c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAGATG GAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAG GGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGG ACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT CGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGTGGTC CAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(367): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	140	0.0071	374	c.540 others(389): Show c.540+717_540+718insCCTTCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE4_chr3_131528569_132040014	131978464	A A	ATTTATAT others(367): Show ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18982.hp2 NA18939.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0059 a0001c0001t0007g0002 a0001c0001t0001g0059 a0001c0001t0007g0002	2	94	0.0213	374	c.-2+ others(391): Show c.-2+56102_-2+56103insAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAA		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587849	C C	CCGTGTCA others(367): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0147 a0003c0006t0003g0147	1	348	0.0029	374	c.927 others(389): Show c.927+752_927+753insCACCCGCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(367): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18992.hp2 NA19064.hp2 NA18957.hp1 NA18992.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0167	3	396	0.0076	374	c.513 others(391): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19						chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(367): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACTATTACTGCTGCCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACT ATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCACTACC TGCCCACCATTACTGTCACCACTACCTGCCCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	396	0.0025	374	c.513 others(389): Show c.513-959_513-958insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACT ATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACTATTACTGCTGCCACCACTACCCGCCCACCAC TATTACTGTCACCACTACCTGCCCACCATTACTGTCACCACTACCTGCCC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19						chr13	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(367): Show ATATATATGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTGTGTATATATATATATATATATATATGTGTATAT ATATATATATATATATATGTGTATATATATATATATATATATATATATGT GTGTATATATATATATATATATATATGTGTATATATATATATATATATAT ATGTGTATATATATATATATATATGTGTATATATATATATATATATATAT GTGTATATATATATATATATATGTGTATATATATATATATATATATGTGT ATATATATATATATATGTGTATATATATATATATATATATATGTGTATAT ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0217 a0002c0002t0005g0217	1	334	0.0030	374	c.290 others(389): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATA TATATATATGTGTATATATATATATATATATATATGTGTATATATATATA TATATATATATATATGTGTGTATATATATATATATATATATATGTGTATA TATATATATATATATATATGTGTATATATATATATATATATGTGTATATA TATATATATATATATATGTGTATATATATATATATATATGTGTATATATA TATATATATATATGTGTATATATATATATATATGTGTATATATATATATA TATATATATGTGTATATATATATATATATATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(367): Show ATATATGTGTATATATATATATATATATATATATGTGTATATATATATAT ATATATATATGTGTGTGTATATATATATATATATATATATATGTGTATAT ATATATATATATATATATGTGTATATATATATATATATATATATATATGT GTATATATATATATATATATATATATGTGTATATATATATATATATATAT ATGTGTATATATATATATATATATGTGTATATATATATATATATATATGT GTATATATATATATATATATATGTGTATATATATATATATATATGTGTAT ATATATATATATATATGTGTATATATATATATATATATATATGTGTATAT ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0182 a0002c0002t0043g0183 a0002c0002t0043g0182 a0002c0002t0043g0183	2	334	0.0060	374	c.290 others(389): Show c.290-150_290-149insTATGTGTATATATATATATATATATATATA TGTGTATATATATATATATATATATATGTGTGTGTATATATATATATATA TATATATATGTGTATATATATATATATATATATATGTGTATATATATATA TATATATATATATATGTGTATATATATATATATATATATATATGTGTATA TATATATATATATATATATGTGTATATATATATATATATATGTGTATATA TATATATATATATATGTGTATATATATATATATATATATGTGTATATATA TATATATATATGTGTATATATATATATATATATGTGTATATATATATATA TATATATATGTGTATATATATATATATATATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(367): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC GCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGC AGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGC AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAGGCGCAGGCAGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0179 a0001c0006t0003g0179	1	380	0.0026	374	c.121 others(391): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCG CCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCC TGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGC TGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCC GCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCC TCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTG		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14						chr7	TogoVar
DDX53_chrX_22994960_23008589	23002476	C C	CTCCTTAA others(367): Show CTCCTTAATTTTAAAAAAGTCTCAAAATGAGAGAGTGAGAGACTGTGTGA AGAGAAAGTGAATGTTACGTGTTGGTTAAAGTTTAATTTCTCTTAAAAAT ACTTTTATTTTAGGTTTGGGGGTATATGTGAAGGTTTGTTAAAGAAACAC GTGCCATGGGGGTTTATCAACTTTCAATATTGTGTATGTTCCTTAATTTT AGAAAAAGTCTCAAAAATGAGAGAGAGACTATGTGAAGAGAAGGTAAATG TTATGTGTTGGTTAAAGTTTAATTTCTCCTAAAAATACTTTTATTTTAGG TTTGGGGGTATTTGTGAAGGTTTGTTAAAGAAACACGTGTCATGGGGGTT TATCAACTTTCAATATTGTGTATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0024 a0011c0008t0024	a0011c0008t0024g0000 a0011c0008t0024g0000	1	358	0.0028	374	c.54 others(383): Show c.549_*550insTGAGAGAGTGAGAGACTGTGTGAAGAGAAAGTGAAT GTTACGTGTTGGTTAAAGTTTAATTTCTCTTAAAAATACTTTTATTTTAG GTTTGGGGGTATATGTGAAGGTTTGTTAAAGAAACACGTGCCATGGGGGT TTATCAACTTTCAATATTGTGTATGTTCCTTAATTTTAGAAAAAGTCTCA AAAATGAGAGAGAGACTATGTGAAGAGAAGGTAAATGTTATGTGTTGGTT AAAGTTTAATTTCTCCTAAAAATACTTTTATTTTAGGTTTGGGGGTATTT GTGAAGGTTTGTTAAAGAAACACGTGTCATGGGGGTTTATCAACTTTCAA TATTGTGTATGTTCCTTAATTTTAAAAAAGTCTCAAAA		DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1				550	INFO_REALIGN_3_PRIME	chrX	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCG others(367): Show GCGCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCGCGCCGCCT CCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGC CGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCC TCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	374	c.27 others(385): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCG GCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGG CGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGA GGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGA GGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGC GGCGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGCG		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding					795		chr8	TogoVar
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(367): Show GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATGTCCT CACTGCACGCATGTCCTCACTGCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTC CTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCT CCTCACTCCACGCATCTCCTCACTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0126 a0001c0002t0004g0126	1	336	0.0030	374	c.318 others(391): Show c.3187-650_3187-649insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCAT		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	556189	A A	AGCACCCA others(367): Show AGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCA CCCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCG GATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACA GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCAC CCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGA TCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGC ACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCC CCTCCCACAGCCGGATCCCAGGACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	88	0.0114	374	c.86- others(391): Show c.86-69660_86-69659insCGTCCTGGGATCCGGCTGTGGGAGGGGG TGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCC GTCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTG GGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGG CTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCACACAC others(367): Show CCACACACACCCCCCCCCACACACACCCCCCCCACACACACACACACACA CCCCCCCCACACACACACACCCCCCCCACACACACACACACCCCCCCCAC ACACACACACACCCCCCCCCACACACACACCCCCCCCCCACACACACCCC CCCCCCCACACACACACCCCCCCCCACACACACACACCCCCCCCCACACA CACACCCCCCCCCCCACACACACCCCCCCCCCACACACACACACCCCCCC CCACACACACACACACCCCCCCCCACACACACACACACCCCCCCCCACAC ACACACACATCCCCCCCCCACACACACACACATCCCCCCCCCACACACAC ACATCCCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0041 a0001c0005t0001g0041	1	88	0.0114	374	c.85+ others(391): Show c.85+80938_85+80939insATGTGTGTGTGTGGGGGGGGGATGTGTG TGTGTGGGGGGGGGATGTGTGTGTGTGTGGGGGGGGGATGTGTGTGTGTG TGGGGGGGGGTGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGG GGGGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGGGGGGGGGGGTGTGTGT GTGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGG GTGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTG GGGGGGGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGGTGT GTGTGTGTGTGTGTGGGGGGGGTGTGTGTGGGGGGGGGTGTGTGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(367): Show GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02083.hp1 HG03130.hp2 others(4): Show HG01257.hp2 HG02083.hp1 HG03130.hp2 NA18942.hp2 NA18985.hp1 NA19030.hp1 NA19074.hp2	a0001 a0004 a0001 a0004	a0001c0048 a0004c0004 a0004c0015 a0001c0048 a0004c0004 a0004c0015	a0001c0048t0002 a0004c0004t0004 a0004c0004t0006 others(1): Show a0001c0048t0002 a0004c0004t0004 a0004c0004t0006 a0004c0015t0004	a0001c0048t0002g0102 a0004c0004t0004g0320 a0004c0004t0004g0329 others(4): Show a0001c0048t0002g0102 a0004c0004t0004g0320 a0004c0004t0004g0329 a0004c0004t0006g0035 a0004c0004t0006g0037 a0004c0015t0004g0317 a0004c0015t0004g0318	7	358	0.0196	374	c.236 others(393): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20						chr1	TogoVar
DISP3_chr1_11474155_11542551	11522738	G G	GACCCAGC others(367): Show GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGA GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCG AGAGCCCAGCCAGGACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0004 a0004c0015t0004	a0004c0015t0004g0321 a0004c0015t0004g0321	1	358	0.0028	374	c.236 others(393): Show c.2363-1204_2363-1203insACCCAGCCAGGGCCCAGCCAGGGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGA GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAG CCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGA		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20						chr1	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(367): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAAGG AGGAGGGAGGAAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGGAGGA GGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp2 HG01109.hp2 HG01952.hp2	a0008 a0008	a0008c0142 a0008c0146 a0008c0142 a0008c0146	a0008c0142t0001 a0008c0146t0001 a0008c0142t0001 a0008c0146t0001	a0008c0142t0001g0071 a0008c0146t0001g0093 a0008c0142t0001g0071 a0008c0146t0001g0093	2	252	0.0079	374	c.118 others(393): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCCT CCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTTCCTCCCTCCTC CTTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
DNM3_chr1_171836498_172417717	172010831	T T	TAAGAATT others(367): Show TAAGAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0057 a0001c0001t0032g0057	1	136	0.0074	374	c.590 others(393): Show c.590-21561_590-21560insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTTTG		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(367): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0171 a0003c0013t0001g0171	1	212	0.0047	374	c.162 others(387): Show c.162+29_162+30insTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTATTGTTACCTTTTCT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89634611	C C	CCCTTCCT others(367): Show CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTCCTTCCCCTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	250	0.0040	374	c.105 others(391): Show c.105-1295_105-1294insTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTCCTTCCCCTTTCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
EHMT1_chr9_137614005_137841127	137716219	T T	TTGGTGTC others(367): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	170	0.0059	374	c.86- others(387): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137810194	T T	TGGACTGT others(367): Show TGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGG ACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACT GTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTG GGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGT GATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTGGACTGTGGGTGAT GGGTCCGGAGGCGGTTCGGATGCCGCCCTGTGTGGACCGTCGGTGATGGG TCCGGAGGCGGTTCGGATGCCGCCCTGTGTGGACCGTCGGTGATGGGTCC GGAGGCGGTTCCGATGCTGCCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0001 a0001c0008t0001 a0001c0007t0001 a0001c0008t0001	a0001c0007t0001g0052 a0001c0008t0001g0156 a0001c0007t0001g0052 a0001c0008t0001g0156	2	170	0.0118	374	c.271 others(393): Show c.2713-1266_2713-1265insGACTGTGGGTGATGGGTCCGGAGGCG GTTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTT CCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCG ATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATG CCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCG CCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCGGATGCCGCCC TGTGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCGGATGCCGCCCTGT GTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATGCTGCCCCTCG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(367): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGACTGGGCGGGGGGCTGACCCCCCC ACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCAC CTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACC TCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02145.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0016 a0001c0001t0018g0189 a0001c0001t0018g0016 a0001c0001t0018g0189	4	422	0.0095	374	c.145 others(391): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGACTGGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(367): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACACCCCC ACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCAC CTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACC TCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0106 a0001c0002t0008g0106	1	422	0.0024	374	c.145 others(391): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACACCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(367): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCAC CTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACC TCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02055.hp2 others(22): Show HG00609.hp1 HG00673.hp1 HG02055.hp2 HG02074.hp2 HG02129.hp2 HG02280.hp2 HG02486.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 NA18939.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18960.hp2 NA18970.hp2 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19007.hp2 NA19076.hp1 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0008 a0001c0002t0027 a0001c0003t0005 a0001c0002t0008 a0001c0002t0027 a0001c0003t0005	a0001c0002t0008g0032 a0001c0002t0008g0034 a0001c0002t0008g0108 others(11): Show a0001c0002t0008g0032 a0001c0002t0008g0034 a0001c0002t0008g0108 a0001c0002t0008g0109 a0001c0002t0008g0110 a0001c0002t0027g0031 a0001c0003t0005g0005 a0001c0003t0005g0045 a0001c0003t0005g0065 a0001c0003t0005g0136 a0001c0003t0005g0141 a0001c0003t0005g0142 a0001c0003t0005g0143 a0001c0003t0005g0192	25	422	0.0592	374	c.145 others(391): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(367): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCAC CTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACC TCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01433.hp2 others(41): Show HG01081.hp2 HG01243.hp2 HG01433.hp2 HG01943.hp2 HG02155.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG04204.hp2 NA18522.hp2 NA18949.hp2 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18991.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19065.hp1 NA19068.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 others(9): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0025 a0001c0001t0031 a0001c0001t0041 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0064 a0001c0001t0065	a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0022 others(30): Show a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0029 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0009g0008 a0001c0001t0009g0025 a0001c0001t0009g0069 a0001c0001t0009g0081 a0001c0001t0009g0094 a0001c0001t0012g0099 a0001c0001t0012g0100 a0001c0001t0012g0102 a0001c0001t0016g0028 a0001c0001t0025g0027 a0001c0001t0025g0082 a0001c0001t0031g0188 a0001c0001t0041g0087 a0001c0001t0050g0011 a0001c0001t0051g0008 a0001c0001t0052g0066 a0001c0001t0064g0046 a0001c0001t0065g0046	44	422	0.1043	374	c.145 others(391): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
FBXL13_chr7_102806189_103079796	103034071	T T	TACAAACC others(367): Show TACAAACCTTGAGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0177 a0003c0004t0004g0177	1	328	0.0031	374	c.271 others(391): Show c.271-4654_271-4653insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCA GCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCTCAAGGTTTGT		FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	3/20						chr7	TogoVar
FOXJ3_chr1_42171548_42340235	42222001	G G	GAGGGGGA others(367): Show GAGGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAAAGAAGAAAAGAGAAGGAGAAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	332	0.0030	374	c.528 others(391): Show c.528+5881_528+5882insTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTTCTCCTTCTCTTTTCTTCTTTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCT		FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12						chr1	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(367): Show CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCT CCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCC GCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTC CCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCC AGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTC CCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	406	0.0025	374	c.33 others(385): Show c.3309_*3310insCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTC CAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTC CCCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC CCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACT CCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCC CCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2468		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(367): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCTCCTCCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTC TCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCC CGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTC CCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCC AGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTC CCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0009 a0015c0041t0009	a0015c0041t0009g0000 a0015c0041t0009g0000	1	406	0.0025	374	c.33 others(385): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACCCCTCCTCCCCGCCCCCCTCCAGCCTACCCCT CCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCC CGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC CCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACT CCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCC CCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(367): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCCGCC CACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCT CCTCCCGCCTCCCCCCCCAGCCTACCCCCCTCCCCCGCCCACCCCCCTCC CGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTC CCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCC AGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTC CCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0000 a0002c0005t0002g0000	1	406	0.0025	374	c.33 others(385): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTC CCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCCTCCCC CGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC CCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACT CCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCC CCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(367): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCCCCCCACCCACCTCT CCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	374	c.33 others(385): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTC CCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCC GCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(367): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCCAGCCTACCCCTC CCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	406	0.0025	374	c.33 others(385): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCC CTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(367): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGCGCCCTCCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTC CCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCACC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGTTC CCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0003 a0009c0024t0003	a0009c0024t0003g0088 a0009c0024t0003g0088	1	230	0.0044	374	c.109 others(389): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAACG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGTGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGG CGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGGAGGGCGCAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGG GAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(367): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCC CCCCACCCCGCGCTCCCCCCCAACAGCGCCCTCCCCCCAACAACTGCACC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGTTC CCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	230	0.0044	374	c.109 others(389): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAACG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGTGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGGAGCGCGGGGTGGGGGGAAG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGG GAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(367): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCCAACAACTGCGCCCTCCCCT TCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGC CCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAAC AACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTC CCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCACC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGTTC CCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0105 a0001c0003t0003g0105	1	230	0.0044	374	c.109 others(389): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAACG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGTGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGG CGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGG GGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCA GTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGG AGGGCGCAGTTGTTGGGGGGGAGGGCGCTGTTGGGGGGAGGGCG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	T T	TACCACCA others(367): Show TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCA CCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACC ACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAAAT ACCACCACCACCACCATGTCCACCACCACCACCACCACCATCACCATCAC CACCACCACCACCACCATCACCATCACCATCATCACCATCACCAAATACC ACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCAC CATCACCACCACCACCACCATCACC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	422	0.0024	374	c.962 others(391): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATCA CCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCACC ACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCAAATACCACCACCACCACCATGTCCACCACCACCACCACCACCATC ACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATCAC CAAATACCACCACCACCACTATCACCACCATCACCATCACCACCATCACC ACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGGAAGG others(367): Show GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGGAGGGAGGGGGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGA GGGAGGGGAAGGAAAGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAA GGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGAAGGG AGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGA AGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0085 a0001c0019t0085	a0001c0019t0085g0183 a0001c0019t0085g0183	1	188	0.0053	374	c.229 others(393): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTCCCTCCCTTCCTT CCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTC CCTTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCT TCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCTTTCCTTCCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CCCCCTCCCTCCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCT TCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10						chr9	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(367): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGC CCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATC TTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTC CTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCT TCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG02572.hp2 NA19030.hp1 HG02572.hp2 NA19030.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0010 a0009c0020t0010	a0009c0020t0010g0045 a0009c0020t0010g0045	2	396	0.0051	374	c.239 others(383): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGC GGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGCAG GAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAG AAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(367): Show AATATATATAAATATATATAAATATATATTTATATTTATTTGTAAATAAA TATATATAAATATATATAAATATATATTTATATTTATTTATAAATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATTTATATATATTTATATATAAATATATAAATATA TATTTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATT TATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0165 a0001c0002t0014g0165	1	208	0.0048	374	c.-97 others(391): Show c.-97-2068_-97-2067insATATATATAAATATATATAAATATATAT TTATATTTATTTGTAAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAT ATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATTTATATATATTT ATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATAT AAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(367): Show AATATATATAAATATATATAAATATATATTTATATTTATTTGTAAATAAA TATATATAAATATATATAAATATATATTTATATTTATTTATAAATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATTTATATTTATTTATATATAAATATATAAATATA TATTTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATT TATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp1 HG00735.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0054 a0001c0002t0007 a0001c0002t0054	a0001c0002t0007g0058 a0001c0002t0054g0057 a0001c0002t0007g0058 a0001c0002t0054g0057	2	208	0.0096	374	c.-97 others(391): Show c.-97-2068_-97-2067insATATATATAAATATATATAAATATATAT TTATATTTATTTGTAAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAT ATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTT ATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATAT AAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(367): Show AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATTTATAGTTATTTATATATAAATATATAAATATA TATTTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATT TATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0124 a0001c0003t0012g0124	1	208	0.0048	374	c.-97 others(391): Show c.-97-2068_-97-2067insATATATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTT GTAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAT ATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATTTATAGTTATTT ATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATAT AAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(367): Show AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATTTATATTTATTTATATATAAATATATAAATATA TATTTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATT TATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02622.hp2 HG02647.hp1 others(1): Show HG00597.hp2 HG02622.hp2 HG02647.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0064 a0001c0003t0052 a0001c0002t0002 a0001c0002t0064 a0001c0003t0052	a0001c0002t0002g0167 a0001c0002t0002g0203 a0001c0002t0064g0170 others(1): Show a0001c0002t0002g0167 a0001c0002t0002g0203 a0001c0002t0064g0170 a0001c0003t0052g0039	4	208	0.0192	374	c.-97 others(391): Show c.-97-2068_-97-2067insATATATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTT GTAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAT ATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTT ATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATAT AAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(367): Show AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATTTATATTTATTTATAAATAAATATATATAAATATATATAAATA TATATTTATATTTATTTGTAAATAAATATATATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATTTATATTTATTTATATATAAATATATAAATATA TATTTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATT TATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	1	208	0.0048	374	c.-97 others(391): Show c.-97-2068_-97-2067insATATATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAAT ATATATAAATATATATAAATATATATTTATATTTATTTGTAAATAAATAT ATATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAT ATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTT ATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATAT AAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar

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