Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(176): Show CTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	21	0.0476	183	c.510 others(202): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(176): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	21	0.0476	183	c.510 others(202): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(176): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG02896.hp2 HG00733.hp1 HG01243.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0329	3	202	0.0149	183	c.510 others(202): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCC CCTCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(176): Show TTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0125 a0001c0001t0012g0125	1	20	0.0500	183	c.540 others(198): Show c.540+662_540+663insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTC	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE7_chr16_89570758_89602246	89571028	G G	GACGGGAG others(176): Show GACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAG GAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCG GGCACGGGAGGAGGTGAGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAG GAGGTGAGCGGGGCACGGGAGCAGGTGAGCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0223 a0001c0023t0001g0223	1	344	0.0029	183	c.-48 others(194): Show c.-4870_-4869insACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTG AGCGGGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGAC GGGAGGAGGTGAGCGGGCACGGGAGGAGGTGAGGGGCACGGGAGGAGGTG AGCGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAGCAGGTGAGCGGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4729		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(176): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCCGCCCCCGCCCCCCGCCCC CCGCCCCCCCCCGCCGCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0021 a0002c0004t0002g0021	1	117	0.0085	183	c.927 others(198): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCCGCCCCCGC CCCCCGCCCCCCGCCCCCCCCCGCCGCCCCGCCCCCGCCCCCGCCCCCGC CCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(176): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCCGCCCCCGCCCCCGCCCCC CCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0295 a0002c0003t0004g0295	1	117	0.0085	183	c.927 others(198): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCCGCCCCCGC CCCCGCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC CCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(176): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCC CCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01258.hp1 others(3): Show HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01943.hp2 HG02293.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0002 a0002c0004t0002g0290 a0002c0004t0002g0291 a0002c0004t0002g0002 a0002c0004t0002g0290 a0002c0004t0002g0291	6	122	0.0492	183	c.927 others(198): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCGCCCCCGCC CCCGCCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC CCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(176): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	54	0.0185	183	c.101 others(200): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCCTCCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGG GTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1270918	T T	TGTAATCC others(176): Show TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCATGAACCCG GGAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGTGACAGAGAGAGACTCCGTCTCAAAATAAATAAATAAATAAATAAATG GAACATTTAAGGCTGGGCGTGGTGGCACACGCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(62): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp1 HG01081.hp2 HG01169.hp1 HG01175.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18961.hp1 NA18973.hp2 NA18982.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19063.hp1 NA19064.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0007 others(11): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0001c0013 a0002c0003 a0002c0004 a0002c0006 a0002c0011 a0003c0009 a0003c0018 a0004c0010 a0005c0008 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0007t0002 a0001c0012t0005 a0001c0013t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0004t0005 a0002c0004t0007 a0002c0006t0002 a0002c0006t0003 a0002c0006t0005 a0002c0011t0004 a0003c0009t0002 a0003c0018t0005 a0004c0010t0003 a0004c0010t0006 a0005c0008t0001 a0005c0008t0007 a0006c0015t0001	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 others(62): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0103 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0004g0065 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0155 a0001c0001t0005g0156 a0001c0001t0014g0027 a0001c0002t0001g0077 a0001c0002t0003g0081 a0001c0002t0003g0154 a0001c0002t0004g0063 a0001c0002t0004g0083 a0001c0002t0004g0133 a0001c0002t0008g0082 a0001c0007t0002g0130 a0001c0012t0005g0151 a0001c0013t0003g0079 a0002c0003t0001g0145 a0002c0003t0001g0148 a0002c0003t0002g0141 a0002c0003t0002g0142 a0002c0003t0002g0146 a0002c0003t0002g0150 a0002c0003t0002g0158 a0002c0003t0004g0088 a0002c0003t0004g0132 a0002c0003t0005g0138 a0002c0003t0005g0147 a0002c0004t0005g0126 a0002c0004t0005g0128 a0002c0004t0005g0131 a0002c0004t0007g0153 a0002c0006t0002g0127 a0002c0006t0003g0157 a0002c0006t0005g0028 a0002c0011t0004g0074 a0003c0009t0002g0143 a0003c0018t0005g0129 a0004c0010t0003g0159 a0004c0010t0006g0031 a0005c0008t0001g0139 a0005c0008t0007g0140 a0006c0015t0001g0144	65	155	0.4194	183	c.-91 others(200): Show c.-91+2048_-91+2049insGCTACTTGGGAGGCTGAGGCAGGAGAAT CGCATGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAATAAATAAATA AATAAATAAATGGAACATTTAAGGCTGGGCGTGGTGGCACACGCCCGTAA TCCCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1270918	T T	TGTAATCC others(176): Show TGTAATCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCATGAACCCG GGAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGTGACAGAGAGAGACTCCGTCTCAAAATAAATAAATAAATAAATAAATG GAACATTTAAGGCTGGGCGTGGTGGCACACGCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0002g0050 a0001c0001t0001g0049 a0001c0001t0002g0050	2	92	0.0217	183	c.-91 others(200): Show c.-91+2048_-91+2049insGCTACTTGGGAGGCTGAGTCAGGAGAAT CGCATGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAATAAATAAATA AATAAATAAATGGAACATTTAAGGCTGGGCGTGGTGGCACACGCCCGTAA TCCCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(176): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGGA GGGGAGAGGAGGGGGAGAGGAGGGGGAGGCGGAGGGGGAGGCGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0035 a0035	a0035c0023 a0035c0023	a0035c0023t0001 a0035c0023t0001	a0035c0023t0001g0052 a0035c0023t0001g0052	1	16	0.0625	183	c.416 others(204): Show c.416-142659_416-142658insCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCGCCTCCCCCTCCGCCTCCCCCTCCTCTCCCCC TCCTCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCC CTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTSD_chr11_1747755_1768927	1754561	G G	GATGGAGG others(176): Show GATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGG GATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGAGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGGATGGAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0011 a0001c0004t0002g0011	1	375	0.0027	183	c.827 others(198): Show c.827+344_827+345insTCCTCCATCCCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCCTCCATCCCTCCATCCCTCCATCCCCTCCATCCCTC CATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTC CAT	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(176): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0020 a0001c0002t0013g0020	1	282	0.0035	183	c.-11 others(194): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(176): Show ATATATAAAGTATATATTTATATAAATATATATTATATATAATATATATT TATATAAATATATATTATATATAAATATATTTATATAAATATATATTTAT AAAATATATTATATATAATATATATTATATAAAATATATATTTATATAAA AATGTATTATATTATATATTATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	185	0.0054	183	c.539 others(200): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTATATATAATATATATTTATATAAATATATATTATATATAAATATATT TATATAAATATATATTTATAAAATATATTATATATAATATATATTATATA AAATATATATTTATATAAAAATGTATTATATTATATATTATATAAATATA TATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DEFB131A_chr4_9439414_9455666	9440433	C C	CTTGCTAA others(176): Show CTTGCTAATGGGTTGTAATTATGAAATGAGAGAATCAAAGGTATGCTCAG AGTTTTTGTTCGTTTTTGTTTTTTAACCTAAACAACTAGGTACATGAGCC CATCATTGAGAGAGCAAGACTAAAGGGAGTGAGTATTAACAGAGAAAGTG GTATGAATCAAAAATTCATTTTGGAATTCTTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 NA20752.hp1 HG00639.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	422	0.0047	183	c.-41 others(194): Show c.-4101_-4100insTTGCTAATGGGTTGTAATTATGAAATGAGAGAAT CAAAGGTATGCTCAGAGTTTTTGTTCGTTTTTGTTTTTTAACCTAAACAA CTAGGTACATGAGCCCATCATTGAGAGAGCAAGACTAAAGGGAGTGAGTA TTAACAGAGAAAGTGGTATGAATCAAAAATTCATTTTGGAATTCTTGAG	DEFB131A	ENSG00000186146.2	transcript	ENST00000334879.2	protein_coding		3980		chr4	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(176): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATACAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATGCATATA ATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0099 a0001c0002t0004g0099	1	4	0.2500	183	c.126 others(200): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATATGTATATATTATATGCATATAATATATATGTA TATCATATAATATATAATATATAATTGTATATTATATATCATAATATGTA ATATATAATTATATATTACATATATATATTTTAATATATATAATATATAA TATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(176): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATGCATATA ATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp2 others(36): Show HG00099.hp2 HG00140.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG02080.hp2 HG02155.hp2 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18951.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA19009.hp1 NA19090.hp1 NA20129.hp2 NA20905.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0002 a0007c0010 others(1): Show a0001c0001 a0001c0002 a0007c0010 a0009c0013	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0037 a0001c0002t0039 a0007c0010t0002 a0009c0013t0002	a0001c0001t0001g0076 a0001c0002t0002g0060 a0001c0002t0002g0071 others(36): Show a0001c0001t0001g0076 a0001c0002t0002g0060 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0092 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0160 a0001c0002t0002g0277 a0001c0002t0004g0091 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0104 a0001c0002t0004g0106 a0001c0002t0004g0112 a0001c0002t0004g0123 a0001c0002t0037g0100 a0001c0002t0039g0072 a0007c0010t0002g0105 a0009c0013t0002g0126	39	42	0.9286	183	c.126 others(200): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATATGTATATATTATATGCATATAATATATATGTA TATCATATAATATATAATATATAATTATATATTATATATCATAATATGTA ATATATAATTATATATTACATATATATATTTTAATATATATAATATATAA TATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(176): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATGTAATATATACATATATGCATATA ATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03927.hp1 HG03654.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0127 a0001c0002t0002g0128	2	5	0.4000	183	c.126 others(200): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATATGTATATATTACATGCATATAATATATATGTA TATCATATAATATATAATATATAATTATATATTATATATCATAATATGTA ATATATAATTATATATTACATATATATATTTTAATATATATAATATATAA TATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGKD_chr2_233349494_233477098	233397210	G G	GGGGCCAG others(176): Show GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGG GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCC AGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGA GCGAGAGGACACCAGAGGGGACCAGGGTGGCTGC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	322	0.0031	183	c.348 others(200): Show c.348+6730_348+6731insCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGG GTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCT GCGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397210	G G	GGGGCCAG others(176): Show GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGG GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCC AGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGA GCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	322	0.0031	183	c.348 others(200): Show c.348+6730_348+6731insCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGG GTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCT GCGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(176): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCC CCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG03195.hp2 others(2): Show HG02622.hp1 HG02965.hp1 HG03195.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0002c0005t0006 a0001c0001t0006 a0002c0005t0006	a0001c0001t0006g0106 a0002c0005t0006g0103 a0002c0005t0006g0108 others(2): Show a0001c0001t0006g0106 a0002c0005t0006g0103 a0002c0005t0006g0108 a0002c0005t0006g0109 a0002c0005t0006g0110	5	260	0.0192	183	c.101 others(202): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(176): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCT CCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0107 a0002c0005t0006g0107	1	256	0.0039	183	c.101 others(202): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCTCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516659	G G	GGGTAGGG others(176): Show GGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAG GGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGG GGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGA CACAGGGGGTAGGGTGGGGGGGGGACACGGGGTA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	86	0.0116	183	c.86- others(200): Show c.86-30130_86-30129insTACCCCGTGTCCCCCCCCCACCCTACCC CCTGTGTCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGT CCCCCCCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCT CCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACC CTACC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAJB6_chr7_157332004_157422439	157400266	A A	ACATGGGG others(176): Show ACATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGCACTTGTATGTA GGGAGGTCTGAACATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGT GCTCGTGTGTAGGGAGGTCTGAGCACGGGGGATGCCCGGGTCCCCGTGCC TTCGTGTACGCACTTGTACGTAGGGAGGTCTGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0161 a0001c0001t0006g0162	2	370	0.0054	183	c.692 others(200): Show c.692-9516_692-9515insTGGGTCCCCGCGCCTTCGTGTACGCACT TGTATGTAGGGAGGTCTGAACATGGGGGATGCCTGGGTCCCCGCGCCTTC GTGTACGTGCTCGTGTGTAGGGAGGTCTGAGCACGGGGGATGCCCGGGTC CCCGTGCCTTCGTGTACGCACTTGTACGTAGGGAGGTCTGAGCATGGGGG ATGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACACACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0130 a0001c0001t0003g0006 a0001c0001t0003g0130	2	136	0.0147	183	c.692 others(200): Show c.692-9493_692-9492insACACTTGTATGTAGGGAGGTCTGAACAT GGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGA GGTCTGAGCACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTT GTACGTAGGGAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCG TGTAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACGCACTTGTACGTAGGGAGGTCTGAGCATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	135	0.0074	183	c.692 others(200): Show c.692-9438_692-9437insGTGTACGTGCTCGTGTGTAGGGAGGTCT GAGCACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACG TAGGGAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTAC GCACTTGTACGTAGGGAGGTCTGAGCATGGGGGATGCCTGGGTCCCCGCG CCTTC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACGCACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(174): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0003t0006 a0002c0002t0001 a0003c0006t0001 a0004c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(171): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0360 a0001c0001t0001g0367 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0242 a0001c0001t0002g0270 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0032 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0127 a0001c0001t0003g0141 a0001c0001t0003g0368 a0001c0001t0004g0103 a0001c0001t0005g0056 a0001c0001t0005g0066 a0001c0001t0005g0078 a0001c0001t0005g0168 a0001c0001t0006g0160 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0009g0131 a0001c0001t0010g0012 a0001c0001t0010g0018 a0001c0001t0010g0331 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0013g0144 a0001c0001t0015g0159 a0001c0001t0016g0101 a0001c0001t0018g0020 a0001c0001t0019g0113 a0001c0001t0020g0046 a0001c0001t0022g0053 a0001c0001t0023g0139 a0001c0003t0006g0158 a0002c0002t0001g0171 a0002c0002t0001g0178 a0003c0006t0001g0332 a0004c0004t0003g0019	177	311	0.5691	183	c.692 others(200): Show c.692-9484_692-9483insTGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCAC TTGTA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACGCACTTGTATGTAGGGAGTTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp1 HG02257.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0037 a0001c0001t0003g0036 a0001c0001t0002g0037 a0001c0001t0003g0036	2	136	0.0147	183	c.692 others(200): Show c.692-9484_692-9483insTGTAGGGAGTTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCAC TTGTA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTTG others(176): Show CGCCTTTGTGTACGCACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01192.hp2 others(3): Show HG00423.hp1 HG00544.hp1 HG01192.hp2 HG01934.hp2 NA18959.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0002g0354 others(3): Show a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0004g0356 a0001c0001t0004g0357	6	140	0.0429	183	c.692 others(200): Show c.692-9500_692-9499insTGTGTACGCACTTGTATGTAGGGAGGTC TGAACATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGT GTAGGGAGGTCTGAGCACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTA CGCACTTGTACGTAGGGAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT GCCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK8_chr9_209865_470255	380035	G G	GGGCTCAC others(176): Show GGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATC GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04115.hp1 HG03834.hp1 HG04115.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0013 a0001c0003 a0005c0013	a0001c0003t0001 a0005c0013t0001 a0001c0003t0001 a0005c0013t0001	a0001c0003t0001g0106 a0005c0013t0001g0187 a0001c0003t0001g0106 a0005c0013t0001g0187	2	245	0.0082	183	c.260 others(200): Show c.2605+394_2605+576dupGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTC ACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGG AGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400003	A A	ATCACCAC others(176): Show ATCACCACCATCTTCACCACCACCACCACCTCCACCACCAGCACTTCCAC CATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCA CCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATT ATCACCTTTCCTATCACCTCCAATATCACTACCT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0005 a0005	a0005c0159 a0005c0159	a0005c0159t0001 a0005c0159t0001	a0005c0159t0001g0139 a0005c0159t0001g0139	1	241	0.0041	183	c.323 others(200): Show c.3234+744_3234+745insTCACCACCATCTTCACCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCA CCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCC CTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCAC TACCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400070	T T	TCACCATC others(176): Show TCACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCAC CACCACCATCTTCACCGTCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0011 a0011	a0011c0165 a0011c0165	a0011c0165t0001 a0011c0165t0001	a0011c0165t0001g0215 a0011c0165t0001g0215	1	209	0.0048	183	c.323 others(200): Show c.3234+832_3234+833insTATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCAC CACCACCATCTTCACCGTCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(176): Show CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCTTCACC ATCACCACCACCTCCACCATCACCACCACCACCACCACCACCATCACCAC CACCTCCACTATCACCACCACCTCCACTATCACCACCACCTCCACCATCA CCACCTCCTCCATCACCACCACCATCTTCACCAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0060 a0060	a0060c0124 a0060c0124	a0060c0124t0001 a0060c0124t0001	a0060c0124t0001g0240 a0060c0124t0001g0240	1	157	0.0064	183	c.323 others(200): Show c.3234+845_3234+846insTCCACCATCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCACC ACCACCATCACCACCACCTCCACTATCACCACCACCTCCACTATCACCAC CACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCA CCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(176): Show CCACCACCTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCT CCACCTCCACCATCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0012 a0012	a0012c0093 a0012c0093	a0012c0093t0011 a0012c0093t0011	a0012c0093t0011g0125 a0012c0093t0011g0125	1	161	0.0062	183	c.323 others(202): Show c.3234+1467_3234+1468insTCCACCATCACCACCTCCTTCACCAT CACCACCTCCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACC ATCACCACCACCACCTCCACCTCCACCATCACCACCACCACCTCCACCAT CACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400869	T T	TCACCACC others(176): Show TCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAC CACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCA TCACCACCTCCTCCACCACCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0004 a0001c0050t0004	a0001c0050t0004g0058 a0001c0050t0004g0058	1	157	0.0064	183	c.323 others(202): Show c.3234+1627_3234+1628insTCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCAC CATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTCCT CCACCATCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACC TCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(176): Show TTATATATATATAAATATATATTATATATATAAATATATATTTATATATA TAAATATATATTAATATATATAAATATATATTATATATATATAATATATA TAAATATATATTATATATATATAATATATATAAATATATATTATATATAT ATAATATATATAAATATATATTATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	254	0.0039	183	c.-17 others(194): Show c.-1789_-1788insTATATATATATAAATATATATTATATATATAAAT ATATATTTATATATATAAATATATATTAATATATATAAATATATATTATA TATATATAATATATATAAATATATATTATATATATATAATATATATAAAT ATATATTATATATATATAATATATATAAATATATATTATATATATATAA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1049		chr1	TogoVar
DYSF_chr2_71448561_71691763	71479156	T T	TAAGAGCC others(176): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01071.hp1 others(21): Show HG00140.hp1 HG00438.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01981.hp1 HG02040.hp1 HG02258.hp2 HG02300.hp2 HG02615.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp2 HG03942.hp2 NA18952.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA19085.hp2 NA19087.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0013 a0019 a0026	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0020 a0001c0024 a0001c0071 a0001c0075 a0001c0076 a0002c0023 a0002c0067 a0006c0029 a0013c0077 a0019c0033 a0026c0063	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0013t0001 a0001c0020t0001 a0001c0024t0001 a0001c0071t0002 a0001c0075t0001 a0001c0076t0001 a0002c0023t0001 a0002c0067t0001 a0006c0029t0001 a0013c0077t0001 a0019c0033t0001 a0026c0063t0001	a0001c0001t0001g0037 a0001c0001t0001g0079 a0001c0001t0002g0177 others(21): Show a0001c0001t0001g0037 a0001c0001t0001g0079 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0002t0002g0153 a0001c0003t0001g0077 a0001c0003t0001g0113 a0001c0003t0001g0137 a0001c0005t0001g0029 a0001c0005t0002g0145 a0001c0013t0001g0057 a0001c0013t0001g0083 a0001c0020t0001g0071 a0001c0020t0001g0085 a0001c0024t0001g0054 a0001c0071t0002g0078 a0001c0075t0001g0055 a0001c0076t0001g0118 a0002c0023t0001g0073 a0002c0067t0001g0038 a0006c0029t0001g0104 a0013c0077t0001g0190 a0019c0033t0001g0064 a0026c0063t0001g0036	24	167	0.1437	183	c.89- others(198): Show c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA GCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71479164	G G	GACCCAAA others(176): Show GACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03239.hp1 HG02698.hp1 HG03239.hp1	a0001 a0022 a0001 a0022	a0001c0002 a0022c0035 a0001c0002 a0022c0035	a0001c0002t0001 a0022c0035t0001 a0001c0002t0001 a0022c0035t0001	a0001c0002t0001g0133 a0022c0035t0001g0051 a0001c0002t0001g0133 a0022c0035t0001g0051	2	143	0.0140	183	c.89- others(198): Show c.89-1710_89-1709insCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCAACCCAA ATA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479156	T T	TAAGAGCC others(176): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01071.hp1 others(24): Show HG00140.hp2 HG00438.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01981.hp2 HG02040.hp2 HG02148.hp1 HG02258.hp1 HG02300.hp1 HG02615.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp2 HG03942.hp1 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18969.hp2 NA18973.hp1 NA19085.hp1 NA19087.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0014 a0020 a0028	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0020 a0001c0024 a0001c0061 a0001c0073 a0001c0080 a0001c0081 a0002c0023 a0002c0070 a0008c0030 a0014c0082 a0020c0036 a0028c0066	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0001c0020t0001 a0001c0024t0001 a0001c0061t0002 a0001c0073t0001 a0001c0080t0001 a0001c0081t0001 a0002c0023t0001 a0002c0070t0001 a0008c0030t0001 a0014c0082t0002 a0020c0036t0001 a0028c0066t0001	a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0001t0002g0167 others(24): Show a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0001t0002g0167 a0001c0001t0002g0194 a0001c0002t0002g0154 a0001c0003t0001g0011 a0001c0003t0001g0071 a0001c0003t0001g0076 a0001c0003t0001g0128 a0001c0005t0001g0067 a0001c0005t0001g0092 a0001c0005t0001g0142 a0001c0009t0001g0070 a0001c0009t0001g0091 a0001c0020t0001g0132 a0001c0020t0001g0133 a0001c0024t0001g0087 a0001c0061t0002g0001 a0001c0073t0001g0129 a0001c0080t0001g0088 a0001c0081t0001g0018 a0002c0023t0001g0123 a0002c0070t0001g0079 a0008c0030t0001g0016 a0014c0082t0002g0150 a0020c0036t0001g0127 a0028c0066t0001g0075	27	181	0.1492	183	c.92- others(198): Show c.92-1720_92-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA GCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479164	G G	GACCCAAA others(176): Show GACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	154	0.0065	183	c.92- others(198): Show c.92-1710_92-1709insCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCAACCCAA ATA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315325	T T	TACCACCA others(176): Show TACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCCCCAT ACACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20805.hp2 HG00738.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0206 a0001c0001t0002g0203 a0001c0001t0001g0206 a0001c0001t0002g0203	2	247	0.0081	183	c.259 others(202): Show c.259+22691_259+22692insGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315473	T T	TACCACCA others(176): Show TACCACCATCCTCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCCCCAT ACACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	239	0.0042	183	c.259 others(202): Show c.259+22543_259+22544insGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGA TGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATCATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03669.hp1 NA20300.hp1 HG01175.hp1 HG03669.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0159 a0001c0001t0005g0293 a0001c0001t0005g0108 a0001c0001t0005g0159 a0001c0001t0005g0293	3	58	0.0517	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATATGTTATATATGATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATGATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0184 a0001c0001t0059g0184	1	56	0.0179	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATATGTTATATATCATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATGATATACAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	56	0.0179	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTGTATATCATATATAACATATGTTAT ATATCATATATATGTTATATATAATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG03492.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp1 NA18981.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19058.hp2 NA19067.hp1 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0001t0043 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0032 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0338 a0001c0001t0002g0126 a0001c0001t0002g0307 a0001c0001t0004g0240 a0001c0001t0005g0220 a0001c0001t0005g0244 a0001c0001t0012g0055 a0001c0001t0012g0253 a0001c0001t0012g0254 a0001c0001t0012g0290 a0001c0001t0013g0115 a0001c0001t0013g0118 a0001c0001t0013g0266 a0001c0001t0013g0310 a0001c0001t0020g0076 a0001c0001t0020g0078 a0001c0001t0020g0286 a0001c0001t0023g0270 a0001c0001t0023g0271 a0001c0001t0043g0308 a0001c0001t0056g0336 a0001c0001t0057g0292 a0001c0001t0058g0097 a0001c0001t0060g0054	62	117	0.5299	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATATGTTATATATAATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATTATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	56	0.0179	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATAATATATAACATATGTTAT ATATCATATATATGTTATATATAATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083975	A A	ATATGCTA others(176): Show ATATGCTATATATCATATATATCATATATAACATATGTTATATATGATAT ATATGATATATAGCATATGTTATATATTATATATAACATATATATGATAT ATAACATATGTTATATATGATATATAACATATGTTATATATCATATATGT TATATATCATATATGTTATATATCATATATAACG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	336	0.0030	183	c.221 others(202): Show c.221+21521_221+21522insCGTTATATATGATATATAACATATAT GATATATAACATATATGATATATAACATATGTTATATATCATATATAACA TATGTTATATATCATATATATGTTATATATAATATATAACATATGCTATA TATCATATATATCATATATAACATATGTTATATATGATATATATGATATA TAGCATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EML1_chr14_99788413_99947060	99928062	G G	GTGGTGAT others(176): Show GTGGTGATGGTGGTGGTGGTGGTGGTGGTATTGGTGGTGGTGATGGTGGT GGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGGGGTGGGGGTGGGGG TGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0240 a0001c0003t0001g0269 a0001c0003t0001g0240 a0001c0003t0001g0269	2	267	0.0075	183	c.190 others(202): Show c.1909+7190_1909+7191insATGGTGGTGGTGGTGGTGGTGGTATT GGTGGTGGTGATGGTGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGG TGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar

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