Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL20A1_chr20_63288186_63339806	63294164	G G	GAGGGGGA others(243): Show GAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGAGGGGGGGGAGTGTGGG GGGGGAGGGGAGTGCGGGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGC GGGGGGGGGAGGGGGAGTGCGGGGGAAGGGGGCACGTGCGGGGGGGAGGG GGAGTGTGGGGGGGGAGGGGGAGTGCCGGGGGGAGGGGGAGTGCAGGGGA GCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAG C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	290	0.0035	250	c.-11 others(265): Show c.-11+889_-11+890insAGGGGGAGTGCGGGGGGAGGGGGAGTGCGG GGAGGGGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGGGAGGGGGAG TGCAGGGGGAGGGGAGTGCGGGGGGGGGAGGGGGAGTGCGGGGGAAGGGG GCACGTGCGGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGGAGTGCCGGGG GGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGG GAGCGGGGCTGCCGAGGAGC	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35			chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(243): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTG TGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTG T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0229 a0001c0005t0001g0229	1	290	0.0035	250	c.-11 others(265): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGG GGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCA GGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGGAGCGGGGCTGCC GAGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098480	T T	TATATAAA others(243): Show TATATAAATATATATAAATATATATAAATATAAAAATATATATAAATATA TAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATATA AATATATATAAGTATATATAAGTATATATAAATATATATAAATATATGCA AATATATATAAATATATATATAAATAGATATATAAATATATATAAATAGA TATAAATAGATATATAAATACATATATAAATATATATAAATACATATATA A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0202 a0003c0005t0007g0202	1	264	0.0038	250	c.181 others(269): Show c.1812+2991_1812+2992insTTATATATGTATTTATATATATTTAT ATATGTATTTATATATCTATTTATATCTATTTATATATATTTATATATCT ATTTATATATATATTTATATATATTTGCATATATTTATATATATTTATAT ATACTTATATATACTTATATATATTTATATATACTTATATATATTTATAT ATATTTATATACTTATATATATTTATATATTTATATATATTTTTATATTT ATATATATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GGGCAGGC others(243): Show GGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGG CAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGGCAAGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	344	0.0029	250	c.85- others(267): Show c.85-12971_85-12970insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGAAA others(243): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG03098.hp2 others(1): Show HG02258.hp2 HG02280.hp2 HG03098.hp2 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0029 a0003c0009 a0003c0038 others(1): Show a0002c0029 a0003c0009 a0003c0038 a0003c0101	a0002c0029t0003 a0003c0009t0001 a0003c0038t0001 others(1): Show a0002c0029t0003 a0003c0009t0001 a0003c0038t0001 a0003c0101t0001	a0002c0029t0003g0230 a0003c0009t0001g0229 a0003c0038t0001g0228 others(1): Show a0002c0029t0003g0230 a0003c0009t0001g0229 a0003c0038t0001g0228 a0003c0101t0001g0227	4	344	0.0116	250	c.85- others(267): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGGAA others(243): Show AGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	344	0.0029	250	c.85- others(267): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203319	A A	ACACATAT others(243): Show ACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGT ATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACAC ATACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGT GTATATGTGTATATACACATACACATATATGTGTGTGTATGTGTATATAC ACATACACATATATGTGTGTGTATGTGTATATACACATACACATATATGT G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0094 a0002c0004t0008g0094	1	344	0.0029	250	c.88- others(267): Show c.88-34649_88-34648insCACATATATGTGTGTATATGTGTATATA CACATACACATATATGTGTGTATATGTGTATATACACATACACATATATG TGTGTATATGTGTATATACACATACACATATATGTGTGTATATGTGTATA TACACATACACATATATGTGTGTATATGTGTATATACACATACACATATA TGTGTGTGTATGTGTATATACACATACACATATATGTGTGTGTATGTGTA TATACACATACACATATATGTG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129406	T T	TATGTAAT others(243): Show TATGTAATATACATTAGTATATATATACTATATACTAATGTAATATACAT TAGTATATATATACTATATACTAATGTAATATACATTAGTATATATATAC TATATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTA ATATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTAT ATATACTATATACTAATGTAATATACATTAGTATATATATACTATATACT A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18991.hp2 NA18999.hp1 others(1): Show NA18986.hp1 NA18991.hp2 NA18999.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0249 a0001c0001t0001g0251 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0255	4	350	0.0114	250	c.400 others(267): Show c.400-4458_400-4457insCTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAGTATATATATACTATAT ACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATATA CATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATATA TACTATATACTAATGTAATATACATTAGTATATATATACTATATACTAAT GTAATATACATTAGTATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(243): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATATTTCTATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATTTCTATATATATATATATATTTCTATATATATATATATTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	370	0.0027	250	c.56 others(261): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATATTTCTATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATTTCTATATATATATATATATTTCTA TATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240908845	C C	CGTGAGCT others(243): Show CGTGAGCTCTACCTCCTCCACCTCGGGTGAGCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGG G	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0003 a0005 a0003 a0005	a0003c0087 a0005c0005 a0003c0087 a0005c0005	a0003c0087t0002 a0005c0005t0002 a0003c0087t0002 a0005c0005t0002	a0003c0087t0002g0346 a0005c0005t0002g0345 a0003c0087t0002g0346 a0005c0005t0002g0345	2	350	0.0057	250	c.78+ others(265): Show c.78+2276_78+2277insCGGGTGAGCTCTACCTCCTCCACCTCGGGT GACCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTGGGGT GAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGT GAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGT GAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGT GAGCTCTACCTCCTCCACCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSNK1G2_chr19_1936172_1986338	1967797	C C	CTCCCTCT others(243): Show CTCCCTCTTCCCTCCTCTCCAGGCTGCCGCCTACCACCCTTCAGTTCTGC AGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCC TTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCACCA CCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCCCCAGGCT GCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCATCCTCCCTC T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0054 a0002c0003t0003g0054	1	382	0.0026	250	c.-26 others(269): Show c.-265-1705_-265-1704insTTCCCTCCTCTCCAGGCTGCCGCCTA CCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAG GCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCC CCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCC TCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGG CTCCTCCATCCTCCCTCTTCCCTC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(243): Show TATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGC TGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTG CCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCAC C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	396	0.0025	250	c.513 others(265): Show c.513-891_513-890insTGCCACCACCAGTATTACTGTCACCGCCAC CACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACT ATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTAT TACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(243): Show TATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTA TTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGC TGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTG CCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCAC C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG02280.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0247 a0001c0001t0001g0176 a0001c0001t0001g0247	2	396	0.0051	250	c.513 others(265): Show c.513-891_513-890insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACT ATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTAT TACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(243): Show ATATATATGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATGTGTATATATATATAT ATATATATATATGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0220 a0002c0002t0040g0220	1	334	0.0030	250	c.290 others(265): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TGTGTATATATATATATATATATATATATGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(243): Show ATATATATGTGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATGTGTATATATATATAT ATATATGTGTATATATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATGTGTATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0126 a0002c0002t0126	a0002c0002t0126g0284 a0002c0002t0126g0284	1	334	0.0030	250	c.290 others(265): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TGTGTATATATATATATATATATGTGTATATATATATATATATATATATA TATATGTGTATATATATATATATATATATATATGTGTATATATATATATA TATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(243): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCC C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	292	0.0034	250	c.165 others(265): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGGAGGAGGGGAG GGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAG AGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAG AGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675643	T T	TCTCCTCC others(243): Show TCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCC CCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCT C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	292	0.0034	250	c.165 others(265): Show c.165+471_165+472insGAGGAGGGGAGGGGAGGGGGAGGAGGGGAG GGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGG GGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAG GGGAGAGGAGTGGGGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241765475	G G	GGGCTGAG others(243): Show GGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATAGGAGCCCC AGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCC GGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATAGGAGCCCC GGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCC GGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATAGGAGCCCC A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01070.hp1 others(27): Show HG00423.hp1 HG00438.hp1 HG01070.hp1 HG01243.hp1 HG01243.hp2 HG02040.hp1 HG02135.hp1 HG02523.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18957.hp1 NA18972.hp1 NA19002.hp2 NA19011.hp2 NA19012.hp1 NA19070.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0016	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0016c0020	a0001c0001t0005 a0001c0001t0012 a0002c0002t0005 others(12): Show a0001c0001t0005 a0001c0001t0012 a0002c0002t0005 a0002c0002t0012 a0003c0003t0005 a0003c0003t0010 a0003c0003t0014 a0003c0003t0024 a0004c0005t0005 a0004c0005t0012 a0004c0005t0014 a0004c0005t0047 a0005c0004t0005 a0005c0004t0045 a0016c0020t0005	a0001c0001t0005g0006 a0001c0001t0012g0295 a0002c0002t0005g0140 others(25): Show a0001c0001t0005g0006 a0001c0001t0012g0295 a0002c0002t0005g0140 a0002c0002t0012g0227 a0003c0003t0005g0022 a0003c0003t0005g0335 a0003c0003t0005g0351 a0003c0003t0005g0355 a0003c0003t0005g0362 a0003c0003t0005g0364 a0003c0003t0005g0365 a0003c0003t0010g0318 a0003c0003t0010g0329 a0003c0003t0010g0330 a0003c0003t0010g0331 a0003c0003t0010g0332 a0003c0003t0010g0333 a0003c0003t0014g0320 a0003c0003t0024g0321 a0004c0005t0005g0041 a0004c0005t0005g0071 a0004c0005t0005g0210 a0004c0005t0012g0219 a0004c0005t0014g0103 a0004c0005t0047g0056 a0005c0004t0005g0326 a0005c0004t0045g0357 a0016c0020t0005g0064	30	412	0.0728	250	c.130 others(269): Show c.1307-2225_1307-2224insGTAGGAAGAGGGGGGAGAACTTGGGG AGATAGGAGCCCCAGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGG AGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGG AGATAGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGG AGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGG AGATAGGAGCCCCAGGCTGAGGGA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766005	G G	GTTGGGGA others(243): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0365 a0003c0003t0005g0365	1	412	0.0024	250	c.130 others(269): Show c.1307-1628_1307-1627insGGAGTAGGAAGAGGGGGGAGAAGTTG GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTG GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTG GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTG GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTG GGGAGATGGGAGCCCCGGGCTGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(243): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	250	c.27 others(261): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGC GGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCG GCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGLUCY_chr14_91109073_91230632	91205793	T T	TTCTTCTT others(243): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTCTTCT TCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTCTTC TTCGTCTTCTTCTTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCGTCTTCTTCTTCTTCTTTCTTCGTCTTCGTCTTCGTCTTC G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	1	216	0.0046	250	c.156 others(267): Show c.1564+971_1564+972insTCTTCTTCTTCTTCTTCTTCTTCGTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCGTCTTCTTCTTCTTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCGTCTTCTTCTTCTTCGTCTTCTTCTTCGTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTCTTCTTCTTTCTTC GTCTTCGTCTTCGTCTTCGTCT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91205793	T T	TTCTTCTT others(243): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTCT TCTTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTC TTCTTCGTCTTCTTCTTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCGTCTTCTTCTTCTTCTTTCTTCGTCTTCGTCTTCGTCTTC G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03130.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0073 a0003c0003t0001g0176 a0001c0001t0001g0073 a0003c0003t0001g0176	2	216	0.0093	250	c.156 others(267): Show c.1564+971_1564+972insTCTTCTTCTTCTTCTTCTTCTTCTTCTT CGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCGTCTTCTTCTTCTTCGTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCGTCTTCTTCTTCTTCGTCTTCTTCTTCGTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCTTCTTCTTCTTTCTTC GTCTTCGTCTTCGTCTTCGTCT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS12_chr13_51762993_51809163	51775169	T T	TCTCCTAC others(243): Show TCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA TGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCT C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0129 a0001c0001t0001g0133	2	420	0.0048	250	c.364 others(267): Show c.364-1136_364-1135insGAGAATACTGTAGGAGAATACATGTAGG AGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATACATGTAG GAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTA GGAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGGAGAATACA TGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATAC ATGTAGGAGAATACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875236	C C	CCACCCCC others(243): Show CCACCCCCACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCA CCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACC CCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCC CACCCGCACCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCAC CCTCACCCCCACCCCCACCCTCACCCCCACCCCCACCCGCACCCGCACCC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0258 a0003c0003t0001g0258	1	320	0.0031	250	c.39 others(261): Show c.3996_*3997insCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGAGGG TGGGGGTGGGGGTGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGT GCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGG GGGTGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2506		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCA others(243): Show CCACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCA CCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACC CCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCA CCCCCACCCGCACCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0144 a0002c0011t0001g0144	1	320	0.0031	250	c.39 others(261): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGG GGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGT GCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGG GGGTGGGGGTGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGGAGAG others(243): Show GGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGA GGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGAGGAGGAGA GAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCAGGGAGGGGAGGGGCGA A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01975.hp2 others(6): Show HG00609.hp2 HG00738.hp2 HG01975.hp2 HG01981.hp1 HG02165.hp1 HG02717.hp1 HG03834.hp2 NA18747.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009	a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0006t0002 a0001c0007t0007 a0001c0009t0001	a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0003g0047 others(6): Show a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0003g0047 a0001c0003t0002g0062 a0001c0004t0001g0041 a0001c0004t0003g0039 a0001c0006t0002g0058 a0001c0007t0007g0060 a0001c0009t0001g0007	9	88	0.1023	250	c.158 others(267): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTC CCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTC TTCTCCCCTCCCCTCCTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGGAGAG others(243): Show GGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGAGGGGG AGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGAGGGGA GGGGAGGGGAGGGAGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGG AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGAGGAGGAGA GAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCAGGGAGGGGAGGGGCGA A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	88	0.0114	250	c.158 others(267): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCC CTTCTTCTCTCCCTCCCCTCCCCTCCCCTCCTTCTTCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCTTCTCCCCCTCGCCTCCTCTCCCCTCCCTTC TTCTCCCCTCCCCTCCTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(243): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	126	0.0079	250	c.199 others(269): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAI7_chr12_25103289_25200160	25106550	G G	GTACAGTA others(243): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02895.hp2 HG03453.hp1 others(1): Show HG01346.hp2 HG02895.hp2 HG03453.hp1 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0330 a0001c0001t0001g0332 a0002c0002t0001g0205 others(1): Show a0001c0001t0001g0330 a0001c0001t0001g0332 a0002c0002t0001g0205 a0002c0002t0001g0218	4	336	0.0119	250	c.19 others(261): Show c.1997_*1998insTATATATATATATATATATATATGTATATGCATT TCTTTAATCCTAATAGTTACAAAGGGTGGGAGGCAGATTGTTTCCAAAAC TATATATGTGTGTGTGTGTGCATGTTTAACCATACTTTATTAAACACTTT AATCTCAGCACTTTGGGAGGCCAAGAAAGGGGATTCCTCCCAAGGATCTC AGGACTCCAGGGATTGCTTGAGCCCTGGAGTTGGAGGCTGTAGTGAGCTA TGGTTGCACTACTGTA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1738		chr12	TogoVar
DNLZ_chr9_136354483_136368744	136355150	G G	GGGTGACA others(243): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACA CGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGG GGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGG TAGCCGGGTGCCGAGGGTGGTGACACGTCCTGGGGTAGGGGTAGCCGGGT GCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02922.hp1 HG03516.hp2 others(1): Show HG01261.hp2 HG02922.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0001 a0001c0001t0053g0086 a0001c0001t0001g0001 a0001c0001t0053g0086	4	418	0.0096	250	c.68 others(261): Show c.6861_*6862insACCCTCGGCACCCGGCTACCCCTCCCCCAGGACG TGTCACCCACCCTCGGCACCCGGCTACCCCTACCCCAGGACGTGTCACCA CCCTCGGCACCCGGCTACCCCTCCCCCAGGACGTGTCACCCACCCTCGGC ACCCGGCTACCCCTCCCCCAGGACGTGTCACCCACCCTCGGCACCCGGCT ACCCCTCCCCCAGGACGTGTCACCCACCCTCGGCACCCGGCTACCCCTCC CCCAGGACGTGTCACC	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4332		chr9	TogoVar
EIF3B_chr7_2349827_2385745	2377548	A A	ACGAGCGC others(243): Show ACGAGCGCTCCTGGGAATCCGTGTTGTGTGAATGACCCTGGGTGTCAAGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGAGCGCTCCTGGGATGCTGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGAGCGCTCCT GGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAG G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	384	0.0026	250	c.215 others(267): Show c.2154+488_2154+489insATCCGTGTTGTGTGAATGACCCTGGGTG TCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGAGCGCTCCTGGGATG CTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGAGC GCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGAGCGCTCCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(243): Show TATATATTATATATAATATATATTACATAATATATTACATATATTATGTA ATATATGTTATATATTACATATAATATATGTAATATATAATATATAATAT ATTATATATTATATATTATACATAATATAATATATAATATATATATTATA TATATTATGTATTATATATAATATATTATACATAATATATAATATATATT ACGTAATATATTACATATATTATATATAATATATATTACGTAATATATTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	312	0.0032	250	c.-38 others(261): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATTATGTATAATATATTAT ATATAATACATAATATATATAATATATATATTATATATTATATTATGTAT AATATATAATATATAATATATTATATATTATATATTACATATATTATATG TAATATATAACATATATTACATAATATATGTAATATATTATGTAATATAT ATTATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(243): Show TATATATTATATATAATATATATTACATAATATATTACATATATTATGTA ATATATGTTATATATTACATATAATATATTATATGTAATATATAATATAT TATATATTATATATTATACATAATATATAATATATAATATATAATATATA TATTATGTATAATATATATAATATATTATACATAATATATAATATATATT ACGTAATATATTACATATATTATATATAATATATATTACGTAATATATTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG02647.hp2 others(4): Show HG01106.hp2 HG01167.hp1 HG02647.hp2 HG03239.hp2 HG03490.hp2 NA18952.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0003 a0001c0001t0001 a0001c0001t0002 a0001c0011t0003	a0001c0001t0001g0016 a0001c0001t0001g0162 a0001c0001t0001g0163 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0195 a0001c0001t0002g0047 a0001c0011t0003g0247	7	312	0.0224	250	c.-38 others(261): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATTATGTATAATATATTAT ATATATTATACATAATATATATATTATATATTATATATTATATATTATGT ATAATATATAATATATAATATATTATATATTACATATAATATATTATATG TAATATATAACATATATTACATAATATATGTAATATATTATGTAATATAT ATTATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(243): Show TATATATTATATATAATATATATTACATAATATATTACATATATTATGTA ATATATGTTATATATTACATATAATATATTATATGTAATATATAATATAT TATATATTATATATTATACATAATATATAATATATAATATATAATATATA TATTATGTATAATATATATTATATATTATACATAATATATAATATATATT ACGTAATATATTACATATATTATATATAATATATATTACGTAATATATTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02280.hp1 HG03225.hp1 others(2): Show HG00673.hp2 HG02280.hp1 HG03225.hp1 NA19065.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0027 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0027 a0001c0002t0026	a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0005g0292 others(2): Show a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0005g0292 a0001c0001t0027g0307 a0001c0002t0026g0306	5	312	0.0160	250	c.-38 others(261): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATTATGTATAATATATAAT ATATATTATACATAATATATATATTATATATTATATATTATATATTATGT ATAATATATAATATATAATATATTATATATTACATATAATATATTATATG TAATATATAACATATATTACATAATATATGTAATATATTATGTAATATAT ATTATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(243): Show TATATATTATATATTATATATATTACATAATATATTACATATATTATGTA ATATATGTTATATATTACATATAATATATTATATGTAATATATAATATAT TATATATTATATATTATACATAATATATAATATATAATATATAATATATA TATTATGTATAATATATATAATATATTATACATAATATATAATATATATT ACGTAATATATTACATATATTATATATAATATATATTACGTAATATATTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0179 a0001c0001t0001g0180	2	312	0.0064	250	c.-38 others(261): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATTATGTATAATATATTAT ATATATTATACATAATATATATATTATATATTATATATTATATATTATGT ATAATATATAATATATAATATATTATATATTACATATAATATATTATATG TAATATATAACATATATTACATAATATATGTAATATATTATGTAATATAT ATAATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
ERV3-1_chr7_64985356_65011687	65005491	A A	ATGCCAGC others(243): Show ATGCCAGCCAATGCTTTGTCAAAAAATGATTAATTAAAATATGGTACCTA AAATGTACACTAAAGTGTACATTAAAGGACAAATAGTTGATAATGTGAAT TAGGGAGGGGAAATTGGCATTTGGGAATGTCAGAAGGAACTGGAAATTTA GTATTTTACTGCAAGCCAGAGTTAGGCTGGAGGAATGGGAAATGGGGAGA AGTCTTGAGACCCTGCTTGAGACAGAAGTGAAAAATGCAGAGGAAAATCA G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	458	0.0022	250	c.-38 others(268): Show c.-389+800_-389+1049dupCTGATTTTCCTCTGCATTTTTCACTTC TGTCTCAAGCAGGGTCTCAAGACTTCTCCCCATTTCCCATTCCTCCAGCC TAACTCTGGCTTGCAGTAAAATACTAAATTTCCAGTTCCTTCTGACATTC CCAAATGCCAATTTCCCCTCCCTAATTCACATTATCAACTATTTGTCCTT TAATGTACACTTTAGTGTACATTTTAGGTACCATATTTTAATTAATCATT TTTTGACAAAGCATTGGCTGGCA	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding	1/1			chr7	TogoVar
ETFB_chr19_51340169_51371388	51345864	T T	TGAACCCT others(243): Show TGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGC TGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACC CTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGAT GATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCT ATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGC A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03486.hp2 HG02896.hp1 HG02897.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0261 a0002c0002t0001g0038 a0002c0002t0001g0261	3	436	0.0069	250	c.598 others(265): Show c.598-484_598-483insTGCGCATCATCTCAGCCTATAGGGAGGGTT CAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCT ATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCA TCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGG AGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCT CAGCCTATAGGGGAGGGTTC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
EXD3_chr9_137301896_137428162	137328951	G G	GTCACACG others(243): Show GTCACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGACTACACGGGGCTACACGGGGTCACACGGG ACTACACGGGACTACACGGGGCTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGCTACACGGGGTCACACGGGACTACACGGG ACTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGTCACACGGG A	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0033 a0016c0026t0001g0033	1	82	0.0122	250	c.199 others(269): Show c.1999-4809_1999-4808insTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329476	G G	GCTACACG others(243): Show GCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0035 a0006c0004t0001g0035	1	82	0.0122	250	c.199 others(269): Show c.1999-5334_1999-5333insTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	520276	C C	CCACCGAG others(243): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0167 a0001c0001t0014g0167	1	272	0.0037	250	c.238 others(271): Show c.2380+12192_2380+12193insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45229188	A A	AATTAAAT others(243): Show AATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG TATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG TATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG TATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG TATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	356	0.0028	250	c.127 others(267): Show c.1270-923_1270-922insACATAAATATATGTATATATTTAATACA TAAATATATGTATATATTTAATACATAAATATATGTATATATTTAATACA TAAATATATGTATATATTTAATACATAAATATATGTATATATTTAATACA TAAATATATGTATATATTTAATACATAAATATATGTATATATTTAATACA TAAATATATGTATATATTTAATACATAAATATATGTATATATTTAATACA TAAATATATGTATATATTTAAT	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11			chr19	TogoVar
EYS_chr6_63714980_65712226	64295352	A A	AGGAGGAG others(243): Show AGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGAAGCAGAAG GAGAAGAAGCAGAAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGCAGCA GAAGAAGCAGGAGCAGCAGAAGCAGAAGAAGAAGCAGAAGCAGAAGCAGA AGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGCAGCA G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0001 a0011c0001	a0011c0001t0001 a0011c0001t0001	a0011c0001t0001g0013 a0011c0001t0001g0013	1	24	0.0417	250	c.619 others(271): Show c.6191+11617_6191+11618insCTGCTGCTGCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGCTTCTTC TTCTGCTTCTGCTGCTCCTGCTTCTTCTGCTGCTTCTGCTTCTTCTTCTG CTTCTGCTTCTGCTTCTGCTTCTTCTCCTTCTGCTTCTTCTCCTTCTCCT TCTCCTCCTCCTCCTCCTCCTCCTCC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
FAM234A_chr16_229821_271096	267501	C C	CACACATG others(243): Show CACACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCCT CACAGTACACCTGCACACGTGCACTACACACAATCACACGTGCTATGCAT ACACACCACACGTGTGCCTCACAGTGCTACACATGCCTCATACACATGAC ACGTGCACACACCACATGCATGCCTCAGTACACCTGCACACGTGCACTAA ACACAATCACACATGCTATGCGTACACACCACACGTGTGCCTCTCAGTGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG03579.hp2 HG02280.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	408	0.0074	250	c.24 others(261): Show c.2479_*2480insACACATGCATCCTACACGACACGTGCACACACAC CACACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATC ACACGTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATG CCTCATACACATGACACGTGCACACACCACATGCATGCCTCAGTACACCT GCACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACG TGTGCCTCTCAGTGCT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1406		chr16	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(243): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACCTGTGCCTCACAGTGCTACACATGCATC CTACACGACACGTGCACACACACCACACATGCATGCCTCACAGTACACCT GCACACGTGCACTACACACAATCACACATGCTATGTGTACACACCACACG TGTGCCTCTGCTACACATGCCTCATACACACGACACGTGCACACACCACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02818.hp2 others(3): Show HG02559.hp1 HG02809.hp2 HG02818.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0010 a0001c0005t0002g0043 a0001c0005t0002g0129 others(2): Show a0001c0005t0002g0010 a0001c0005t0002g0043 a0001c0005t0002g0129 a0001c0005t0002g0130 a0001c0005t0002g0131	6	408	0.0147	250	c.25 others(261): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACCTGTGCCTCACAG TGCTACACATGCATCCTACACGACACGTGCACACACACCACACATGCATG CCTCACAGTACACCTGCACACGTGCACTACACACAATCACACATGCTATG TGTACACACCACACGTGTGCCTCTGCTACACATGCCTCATACACACGACA CGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FBXO47_chr17_38931432_38972403	38946560	A A	ATAAATAT others(243): Show ATAAATATATATAAATATAAAAATATATAAATACATAATATATAAATATA AAATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAA AATATATATAAATATATAAAAATATATAAAAAATATATACACATATAAAT ATATATAAAAATATATAAATATATATAAAAATATATAAATATATATTATA TATAAATATATAATATATAAATATATATAAATATATAATATATAAATATA T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18969.hp2 NA18980.hp1 others(1): Show NA18960.hp2 NA18969.hp2 NA18980.hp1 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0226 a0003c0003t0003g0192 a0003c0003t0003g0194 others(1): Show a0001c0001t0003g0226 a0003c0003t0003g0192 a0003c0003t0003g0194 a0003c0003t0003g0224	4	344	0.0116	250	c.617 others(267): Show c.617-1425_617-1424insATATATTTATATATTATATATTTATATA TATTTATATATTATATATTTATATATAATATATATTTATATATTTTTATA TATATTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATAT ATTTTTATATATTTATATATATTTTTATATATATTTTTATATTTTTAATA TATTTTATATATTATATATATTTTATATTTATATATTATGTATTTATATA TTTTTATATTTATATATATTTA	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FKRP_chr19_46741057_46763575	46753337	A A	ATCCCAGC others(243): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCGGTGAGCCTAGATGGCGCCATTGCACTTCACCCTGGGTA ACGAGAGTGAAACTTTGTATCAAAAGAAAATATATATATATATGTGTATA TATATATATACACACATATATATATACACATATATATGTGTGTGTGTGTG TATATATATATATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATA G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	430	0.0023	250	c.-39 others(267): Show c.-39-2033_-39-2032insCTGGGAGGTGGAGGTTGCGGTGAGCCTA GATGGCGCCATTGCACTTCACCCTGGGTAACGAGAGTGAAACTTTGTATC AAAAGAAAATATATATATATATGTGTATATATATATATACACACATATAT ATATACACATATATATGTGTGTGTGTGTGTATATATATATATAAATAAAA TTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAAC	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FKRP_chr19_46741057_46763575	46753337	A A	ATCCCAGC others(243): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCGGTGAGCCTAGATGGCGCCATTGCACTTCACCCTGGGTA ACGAGAGTGAAACTTTGTATCAAAAGAAAATATATATATATATGTGTATA TATATATATACACACATATATATATACACATATATATGTGTGTGTGTGTG TATATATATATATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTGTA G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(157): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp1 NA19078.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0002c0004 a0003c0005 a0005c0013 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0001 a0001c0011t0001 a0002c0004t0001 a0003c0005t0001 a0005c0013t0003 a0007c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0219 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0025 a0001c0001t0003g0049 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0197 a0001c0001t0013g0192 a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0001g0108 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0156 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0011t0001g0005 a0002c0004t0001g0009 a0002c0004t0001g0092 a0002c0004t0001g0110 a0003c0005t0001g0046 a0005c0013t0003g0008 a0007c0008t0001g0122	160	430	0.3721	250	c.-39 others(267): Show c.-39-2033_-39-2032insCTGGGAGGTGGAGGTTGCGGTGAGCCTA GATGGCGCCATTGCACTTCACCCTGGGTAACGAGAGTGAAACTTTGTATC AAAAGAAAATATATATATATATGTGTATATATATATATACACACATATAT ATATACACATATATATGTGTGTGTGTGTGTATATATATATATAAATAAAA TTAGCCAGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAAC	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FKRP_chr19_46741057_46763575	46753337	A A	ATCCCAGC others(243): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCGGTGAGCCTAGATGGCGCCATTGCACTTCACCCTGGGTA ACGAGAGTGAAACTTTGTATCAAAAGAAAATATATATATATATGTGTATA TATATATATACACACATATATATATACACATATATATGTGTGTGTGTGTG TATATATATATATAAATAAGATTAGCCAGGTGTGGTGGCATGCGCCTGTA G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0186 a0001c0001t0001g0194	2	430	0.0047	250	c.-39 others(267): Show c.-39-2033_-39-2032insCTGGGAGGTGGAGGTTGCGGTGAGCCTA GATGGCGCCATTGCACTTCACCCTGGGTAACGAGAGTGAAACTTTGTATC AAAAGAAAATATATATATATATGTGTATATATATATATACACACATATAT ATATACACATATATATGTGTGTGTGTGTGTATATATATATATAAATAAGA TTAGCCAGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAAC	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FKRP_chr19_46741057_46763575	46753337	A A	ATCCCAGC others(243): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCGGTGAGCCTAGATGGCGCCATTGCACTTCACCCTGGGTA ACGAGAGTGAAACTTTGTATCAAAAGAAAATATATATATATGTGTGTATA TATATATATACACACATATATATATACACATATATATGTGTGTGTGTGTA TATATATATATATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTGTA G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(67): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01993.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02698.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18947.hp1 NA18954.hp1 NA18961.hp2 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18984.hp2 NA18993.hp1 NA18999.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19077.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0006t0001 a0001c0009t0001 a0004c0007t0002	a0001c0001t0001g0022 a0001c0001t0001g0066 a0001c0001t0001g0067 others(40): Show a0001c0001t0001g0022 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0105 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0198 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0043 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0088 a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0034 a0001c0002t0001g0048 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0102 a0001c0002t0001g0120 a0001c0002t0001g0130 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0006t0001g0076 a0001c0006t0001g0115 a0001c0009t0001g0065 a0004c0007t0002g0006	70	430	0.1628	250	c.-39 others(267): Show c.-39-2033_-39-2032insCTGGGAGGTGGAGGTTGCGGTGAGCCTA GATGGCGCCATTGCACTTCACCCTGGGTAACGAGAGTGAAACTTTGTATC AAAAGAAAATATATATATATGTGTGTATATATATATATACACACATATAT ATATACACATATATATGTGTGTGTGTGTATATATATATATATAAATAAAA TTAGCCAGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAAC	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FKRP_chr19_46741057_46763575	46753337	A A	ATCCCAGC others(243): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCGGTGAGCCTAGATGGCGCCATTGCACTTCACCCTGGGTA ACGAGAGTGAAACTTTGTATCAAAAGAAAATATATATATATGTGTGTATA TATATATATACACACATATATATATACACATATATATGTGTGTGTGTGTG TATATATATATATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTGTA G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00673.hp1 others(37): Show HG00438.hp2 HG00597.hp1 HG00673.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG02074.hp1 HG02258.hp2 HG02451.hp2 HG02738.hp1 HG02818.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03654.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA19000.hp1 NA19007.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0012 a0001c0001 a0001c0003 a0006c0012	a0001c0001t0001 a0001c0001t0008 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0007 a0006c0012t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0036 others(26): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0195 a0001c0001t0008g0013 a0001c0003t0007g0037 a0006c0012t0001g0082	40	430	0.0930	250	c.-39 others(267): Show c.-39-2033_-39-2032insCTGGGAGGTGGAGGTTGCGGTGAGCCTA GATGGCGCCATTGCACTTCACCCTGGGTAACGAGAGTGAAACTTTGTATC AAAAGAAAATATATATATATGTGTGTATATATATATATACACACATATAT ATATACACATATATATGTGTGTGTGTGTGTATATATATATATAAATAAAA TTAGCCAGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAAC	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar

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