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
ZFPM1_chr16_88448280_88542031	88501385	G G	GTGGGCCC others(351): Show GTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA TGGGTGCGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0021 a0021	a0021c0083 a0021c0083	a0021c0083t0001 a0021c0083t0001	a0021c0083t0001g0132 a0021c0083t0001g0132	1	318	0.0031	358	c.268 others(377): Show c.268+12232_268+12233insTGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGGGGGCCATCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGGTGCGT	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9			chr16	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(351): Show TTATATATATTTTATATATAATATATATTATATATATTTTATATATATAA TATATATTATATATATTTTATATATATAATATATATTATATATATTTTAT ATATAATATATATTATATATATTTTATATATATAATATATATTATATATA TTTTATATATAATATATATTATATATAAAATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTTTATATATAATATAT ATTATATATAAAATATATATAATATATATTATATATATTTTATATATATA ATATATATTATATATATTTTATATATAATATATATTATATATAAAATATA TATAATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0068 a0003c0003t0004g0068	1	410	0.0024	358	c.125 others(373): Show c.125-645_125-644insTATATTATATATATTTTATATATAATATAT ATTATATATAAAATATATATAATATATATTATATATATAAAATATATATA ATATATATTATATATATTTTATATATAATATATATTATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT TTTATATATAATATATATTATATATAAAATATATATAATATATATTATAT ATATAAAATATATATAATATATATTATATATAAAATATATATAATATATA TTATATATATAAAATATATATAATATATATTATATATATAAAATATATAT AATATATATTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(351): Show CATATATCATATACATCACATACATCACATATATGATATATATATCATAT ACATCACATATATGATATATATATCATATATATCACATATATGATATATA TATCATATATATCACATATATGATATATATCATATATATCACATATATGA TATATATCATATATATCACATATATGATATATATCATATATATCACATAT ATGATATATATCATATATATCACATATATGATATATATATCATATATCAC ATATATGATATATATCATATATCATATGATATATATCATATATATCACAT ATATGATATATATCATATGTGATATATATCATATATATCACATATATGAT ATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0126 a0001c0001t0006g0126	1	350	0.0029	358	c.-36 others(369): Show c.-3631_-3630insATATATCATATACATCACATACATCACATATATG ATATATATATCATATACATCACATATATGATATATATATCATATATATCA CATATATGATATATATATCATATATATCACATATATGATATATATCATAT ATATCACATATATGATATATATCATATATATCACATATATGATATATATC ATATATATCACATATATGATATATATCATATATATCACATATATGATATA TATATCATATATCACATATATGATATATATCATATATCATATGATATATA TCATATATATCACATATATGATATATATCATATGTGATATATATCATATA TATCACATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319211	T T	TATACATA others(351): Show TATACATATACATACATATATACATATATACATATACATACATATATACA TATATACATATACATACATATATATACATATATATACATATACATACATA TATACATATATACATATACATACATATATACATATATACATATACATACA TATACATACATATATACATATACATACATATACATACATATATATACATA TATACATATACATACATATATACATATATATACATATACATACATATATA TACATATATATACATATACATACATATATATACATATATATACATATACA TACATATATACATATATATACATATACATACATATACATACATATATACA TATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	460	0.0022	358	c.-16 others(369): Show c.-1643_-1642insATACATATACATACATATATACATATATACATAT ACATACATATATACATATATACATATACATACATATATATACATATATAT ACATATACATACATATATACATATATACATATACATACATATATACATAT ATACATATACATACATATACATACATATATACATATACATACATATACAT ACATATATATACATATATACATATACATACATATATACATATATATACAT ATACATACATATATATACATATATATACATATACATACATATATATACAT ATATATACATATACATACATATATACATATATATACATATACATACATAT ACATACATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1260		chr19	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(351): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0098 a0001c0001t0016g0098	1	434	0.0023	358	c.328 others(373): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACOX1_chr17_75936507_75984166	75973823	T T	TAGAAACT others(352): Show TAGAAACTGCATCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATTCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAT TAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	344	0.0029	359	c.269 others(376): Show c.269+4710_269+4711insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTTTTTTAG TAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTAGGATGCAGTTTCT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ADAMTS14_chr10_70667506_70767441	70688901	G G	GGGAGAGG others(352): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0309 a0001c0005t0011g0309	1	354	0.0028	359	c.523 others(378): Show c.523-13405_523-13404insGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(352): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTC CCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCC TTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0025 a0015c0014t0025	a0015c0014t0025g0230 a0015c0014t0025g0230	1	262	0.0038	359	c.106 others(378): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGAC AGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAG GAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAA AGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAA GGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113419014	T T	CCCTTCCT others(352): Show CCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCC TTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCC CTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02630.hp2 HG02809.hp2	a0006 a0030 a0006 a0030	a0006c0007 a0030c0036 a0006c0007 a0030c0036	a0006c0007t0013 a0030c0036t0092 a0006c0007t0013 a0030c0036t0092	a0006c0007t0013g0241 a0030c0036t0092g0163 a0006c0007t0013g0241 a0030c0036t0092g0163	2	262	0.0076	359	c.106 others(378): Show c.1061+3812_1061+3813insAGGGAGGGAGGAAGGGAGGGAGGGAG GGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAG GGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGAAGGG AGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGT GAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAA GGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(352): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02132.hp2 HG03704.hp2 others(5): Show HG02015.hp1 HG02132.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18747.hp1 NA18952.hp2 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0019 a0001c0001 a0002c0002 a0002c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0002c0002t0001 a0002c0002t0051 a0002c0019t0001	a0001c0001t0002g0019 a0001c0001t0003g0072 a0001c0001t0016g0065 others(5): Show a0001c0001t0002g0019 a0001c0001t0003g0072 a0001c0001t0016g0065 a0001c0001t0016g0066 a0002c0002t0001g0101 a0002c0002t0001g0121 a0002c0002t0051g0097 a0002c0019t0001g0134	8	268	0.0299	359	c.-37 others(370): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCA CCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCAT CCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTC CCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	391308	T T	TGGGCCAG others(352): Show TGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGC GCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGC AGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCA GGGCGAGGCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0143 a0001c0001t0048g0143	1	268	0.0037	359	c.351 others(378): Show c.351+14640_351+14641insGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCG TGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGT GCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTG CATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGC ACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCA CGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIDA_chr1_222663013_222717491	222679273	T T	TAAAAGAA others(352): Show TAAAAGAAGAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG04228.hp1 HG00642.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	368	0.0054	359	c.461 others(376): Show c.461-3056_461-3055insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCATTCTTCTTTT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	6/9			chr1	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(352): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTG TTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTA CCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGA CGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0347 a0002c0006t0015g0347	1	392	0.0026	359	c.703 others(374): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTGTTG CCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTACCT CCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTA CAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGG GGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGEF10_chr8_1818926_1963641	1873433	A A	AGCCCGCG others(352): Show AGCCCGCGGGGTAGTGCACCCGCGTTTCCTCGTTGCGTTGAGAGGTGCTG CGGGGTAGTGCAGCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGG TGGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGCGCCCGCGGGGTAGTG CACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCT GCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGCATT TCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCTGCATTTCCTC GTTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCTGCATTTCCTCGTTGC GTTGAGAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp1 HG03139.hp2 HG02280.hp1 HG02970.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0064 a0001c0001 a0001c0005 a0004c0064	a0001c0001t0019 a0001c0005t0027 a0004c0064t0071 a0001c0001t0019 a0001c0005t0027 a0004c0064t0071	a0001c0001t0019g0320 a0001c0005t0027g0195 a0004c0064t0071g0189 a0001c0001t0019g0320 a0001c0005t0027g0195 a0004c0064t0071g0189	3	363	0.0083	359	c.680 others(376): Show c.680-3116_680-3115insGTTTCCTCGTTGCGTTGAGAGGTGCTGC GGGGTAGTGCAGCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGT GGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGCGCCCGCGGGGTAGTGC ACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCTG CATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGCATTT CCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCTGCATTTCCTCG TTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCTGCATTTCCTCGTTGCG TTGAGAGGCGCCCGCGGGGTAGTGCACCCGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP2_chr2_9201812_9410678	9400190	G G	GCCCTCCT others(352): Show GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCTCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCTTCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCTCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTC CTGCCCCCTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0140 a0002c0001t0001g0140	1	210	0.0048	359	c.273 others(376): Show c.2734+177_2734+178insCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCTTC CCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCTTCCCCTCCTGCCCCCTCCCCTCC TGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTG CCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCC TCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11A_chr13_112685038_112892168	112872918	G G	GCGGTGTG others(352): Show GCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGG TGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAG TGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTG TCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAA CGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTG TCTTCCTGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0033 a0001c0004t0050g0033	1	254	0.0039	359	c.305 others(376): Show c.3058-625_3058-624insTGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAG GTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTGGA GCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAG GTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGA ACGGTGTGAGGTGTGGCTTTGTCTTCCTGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(352): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03927.hp1 NA18955.hp2 others(5): Show HG03098.hp2 HG03927.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18993.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0003t0001	a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0001g0217 others(5): Show a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0002g0190 a0001c0001t0002g0223 a0001c0001t0005g0202 a0003c0003t0001g0207 a0003c0003t0001g0208	8	268	0.0299	359	c.328 others(372): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCL2L1_chr20_31659458_31727868	31689269	G G	GGGGAAGG others(352): Show GGGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGG GGAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGA AGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACAGGGAGGGGCGGGGAG TGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGG GAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAGGGAAGAGGGAAGGGA GGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGG GAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGGAGAGGGAGGGGAG GGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 homoSapiens_chm13v2.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0098 a0001c0001t0001g0108	2	186	0.0108	359	c.565 others(378): Show c.565-23184_565-23183insTCCCTCTCCCCTCCCCTCCCTCTCCC CTCCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTC CCCTCCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCC TCCCCTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTC CCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCT GTCCCCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCT ACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCC TCTCCTCTTCCCCTCGCCTCCCCTACCCTTCCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
C2CD4C_chr19_400445_414147	404677	A A	ATGGGGTC others(352): Show ATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAG GGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATG GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGG GTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGG GGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGT GTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGG TCCTGTCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTG GAGGGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0055 a0001c0002t0082g0055	1	322	0.0031	359	c.24 others(370): Show c.2418_*2419insATCCCCCCTCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACCCCTC AGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTAC CCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAG GGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCC CCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGG GCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTACCCCC TCAGACCCCTCAGGGCAGGACCCCA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		767		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(352): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	166	0.0060	359	c.198 others(378): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CADM2_chr3_84953989_86079429	85927075	T T	TAAGAGTT others(352): Show TAAGAGTTTGATGAGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAA TTTAGCCGGGCGAGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0039 a0001c0001t0018g0039	1	146	0.0069	359	c.701 others(376): Show c.701-8675_701-8674insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAA AAAATTTAGCCGGGCGAGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAGTTTGATGAGCCA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(352): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGG AGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAG GGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02155.hp1 HG03453.hp1 others(2): Show HG02027.hp1 HG02155.hp1 HG03453.hp1 NA19057.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0001t0008 a0001c0001t0033 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0033 a0001c0015t0002	a0001c0001t0002g0025 a0001c0001t0008g0020 a0001c0001t0008g0022 others(2): Show a0001c0001t0002g0025 a0001c0001t0008g0020 a0001c0001t0008g0022 a0001c0001t0033g0214 a0001c0015t0002g0024	5	340	0.0147	359	c.104 others(378): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44181980	C C	CAGACACA others(352): Show CAGACACAACCACACCACACACACACACACTCACATACAGACACAACCAC ACCACACACACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACTCACATACAGACACAACCA CACCACACACACACACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACATAC ACACTCACAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	460	0.0022	359	c.193 others(376): Show c.1938+679_1938+680insACACACACACTCACATACAGACACAACC ACACCACACACACACACACACACACTCACATACAGACACAACCACACCAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACACTCACATACAGACACAAC CACACCACACACACACACACACTCACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAT ACACACTCACATAGACACAACCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181980	C C	CAGACACA others(352): Show CAGACACAACCACACCACACACACACACTCACATACAGACACAACCACAC CACACACACACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACTCACATACAGACACAACCA CACCACACACACACACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACATAC ACACTCACAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03579.hp2 HG01069.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0137 a0003c0003t0002g0138	2	460	0.0044	359	c.193 others(376): Show c.1938+679_1938+680insACACACACTCACATACAGACACAACCAC ACCACACACACACACACACACACACTCACATACAGACACAACCACACCAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACACTCACATACAGACACAAC CACACCACACACACACACACACTCACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAT ACACACTCACATAGACACAACCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(352): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTTTATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATATAATATATATTTTATAAAATATATATTATATTATATAATATAT ATTTTATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18961.hp2 NA18954.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	288	0.0069	359	c.154 others(378): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905991	T T	TATATAAT others(352): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TAATATATATTATATAAAATATATATTATATTATATAATATATATTTTAT AAAATATATATTATATTATATAATATATATTTTATAAAATATATATTATA TTATATATAATATATATTATATAAAATATATATTATATTATATAATATAT ATTATATAAAATATATATTATATTATATAATATATATTATATAAAATATA TATTATATTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	288	0.0035	359	c.154 others(378): Show c.1546+1200_1546+1201insATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTATATAAAATATATATT ATATTATATAATATATATTTTATAAAATATATATTATATTATATAATATA TATTTTATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TAATATATATTATATAAAATATATATTATATTA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882297	A A	AAGGAAAG others(352): Show AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCA GGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAA GGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19000.hp2 HG00621.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0085 a0001c0001t0002g0067 a0001c0001t0002g0085	2	288	0.0069	359	c.303 others(378): Show c.303+23824_303+23825insCTCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCTG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTT CTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDK19_chr6_110604978_110820469	110666104	C C	CAAAGAAT others(352): Show CAAAGAATCTTACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0110 a0001c0001t0010g0110	1	300	0.0033	359	c.456 others(376): Show c.456+1329_456+1330insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAATCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAACTGTAAGATTCTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CEP170B_chr14_104860268_104901747	104884897	G G	GGGGGGGT others(352): Show GGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGG GGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTG GGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGT GGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCG TGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTC GTGGGGAATC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp2 HG02723.hp2 others(3): Show HG01167.hp2 HG02280.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0018 a0001c0071 a0001c0008 a0001c0018 a0001c0071	a0001c0008t0003 a0001c0018t0003 a0001c0071t0003 a0001c0008t0003 a0001c0018t0003 a0001c0071t0003	a0001c0008t0003g0261 a0001c0008t0003g0262 a0001c0018t0003g0013 others(1): Show a0001c0008t0003g0261 a0001c0008t0003g0262 a0001c0018t0003g0013 a0001c0071t0003g0252	6	328	0.0183	359	c.177 others(376): Show c.1770+353_1770+354insGTGGAGGTGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGT GAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGA GTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCG AGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGC GAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGG CGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTG GCGAGTGAGAGCCCTCGTGGGGAATCGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(352): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCC GCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01167.hp2 others(2): Show HG00735.hp1 HG01106.hp2 HG01167.hp2 HG02970.hp2 NA19240.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0039 a0003c0007t0001g0206 a0003c0007t0001g0207 others(1): Show a0003c0007t0001g0039 a0003c0007t0001g0206 a0003c0007t0001g0207 a0003c0007t0001g0210	5	428	0.0117	359	c.217 others(376): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCGCCCCGCCCCGCCCCGCCCCTCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLASRP_chr19_45034045_45075956	45038561	T T	TAAAAAAT others(352): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	364	0.0028	359	c.-57 others(368): Show c.-577_-576insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		483		chr19	TogoVar
CLEC2D_chr12_9664713_9704553	9703919	A A	ATGTATTG others(352): Show ATGTATTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	388	0.0026	359	c.90 others(370): Show c.9045_*9046insTGTATTGTGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCC	CLEC2D	ENSG00000069493.15	transcript	ENST00000290855.11	protein_coding		4367		chr12	TogoVar
COL4A2_chr13_110302284_110518209	110355580	G G	GTGGGGGT others(352): Show GTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCA CTAGCTCACCTGTGTGGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGC TCACCTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGA GGGCTGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCAC CTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0005 a0003c0018t0005	a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0005g0116 a0003c0018t0005g0117	2	372	0.0054	359	c.100 others(376): Show c.100-1892_100-1891insTGGGGGTGGAGGGCTGTACAGCTCACCT GTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGGAGGGCTGT ACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTG TGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGTACCAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825085	G G	GGAGAGGC others(352): Show GGAGAGGCTGGGCTCGGCGGGAGGGAGAGGCTGGGCTCCGGCGGGAGGGA GGGCTGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGG CTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCT GGGCTCCGGCGGTGGGGAGGGGCTGGGCTCGGCGGCGGTGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CGGCTGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0002 a0010c0028t0002	a0010c0028t0002g0294 a0010c0028t0002g0294	1	412	0.0024	359	c.630 others(372): Show c.630+64_630+65insGAGAGGCTGGGCTCGGCGGGAGGGAGAGGCTG GGCTCCGGCGGGAGGGAGGGCTGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCGGC GGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGC GGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCGGCTGGGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGTGGGGA	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31			chr20	TogoVar
CPNE7_chr16_89570758_89602246	89588038	A A	ACCCACAG others(352): Show ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCATGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCAC AGATACACGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	348	0.0029	359	c.928 others(374): Show c.928-634_928-633insACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CCATGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCATGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232254	C C	CTGCCACC others(352): Show CTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCC ACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCA CCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACC TGTCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTG CCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTA CTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCA CCATTACTGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	396	0.0025	359	c.513 others(374): Show c.513-923_513-922insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACT ATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTAT TACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCT GCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGC CACCACCACCTGTCCACCACCATTACTGT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DNAJB6_chr7_157332004_157422439	157369677	T T	TATTATTA others(352): Show TATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT CACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACA GGCCCCTTCTCAACATTATTATTAAACAGGCCTTTCATAACGTTATTATT AAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCTTTCATAACGTTA TTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTA ACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGAGCCCCT TCTTAACATC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0145 a0001c0001t0013g0145	1	372	0.0027	359	c.346 others(376): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGC CTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAA CAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTA TTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAACGT TATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCT TAACATTATTATTAAACAGGCCTTTCATAAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(352): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18946.hp1 HG01074.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0107 a0001c0001t0001g0111	2	212	0.0094	359	c.162 others(372): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(352): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTG AGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGC CCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCT GTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGG GGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTA GCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGG CCCTGCCTAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01952.hp1 HG01943.hp1 HG01952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0091 a0003c0004t0001g0161 a0003c0004t0001g0091 a0003c0004t0001g0161	2	392	0.0051	359	c.279 others(374): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGA GGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCC CTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTG TGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGG GAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGG TGGGGGCCCTGCCTATGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP8_chr15_65437467_65522689	65494012	C C	CCTAACAA others(352): Show CCTAACAACCCTATGTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT TTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGG GGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAA CAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTT CCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACT CTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGC ACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAG AGCACAGGGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0011 a0001c0003t0005g0023 a0001c0003t0005g0011 a0001c0003t0005g0023	2	336	0.0060	359	c.716 others(376): Show c.716-3714_716-3713insACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAACAAAA AAAAAAAAAAAAAAAAACATAGGGTTGTTAG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DPP8_chr15_65437467_65522689	65494012	C C	CCTAACAA others(352): Show CCTAACAACCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGG GGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAA CAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTT CCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACT CTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGC ACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAG AGCACAGGGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG03139.hp2 others(1): Show HG02622.hp1 HG02895.hp1 HG03139.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0025 a0001c0003t0005 a0001c0003t0025	a0001c0003t0005g0015 a0001c0003t0005g0018 a0001c0003t0005g0020 others(1): Show a0001c0003t0005g0015 a0001c0003t0005g0018 a0001c0003t0005g0020 a0001c0003t0025g0022	4	336	0.0119	359	c.716 others(376): Show c.716-3714_716-3713insACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACATAGGGTTGTTAG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DPYSL2_chr8_26509031_26663175	26556316	A A	AGTATATA others(352): Show AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTGTATATATATAGTATATATATAGTGTATATATATAG TATATATATAGTATATATAGTATATATATAGTATATATATAGTATATATA GTATATATATGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0166 a0001c0001t0003g0161 a0001c0001t0003g0166	2	316	0.0063	359	c.355 others(378): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTGTATATATATAGT ATATATATAGTGTATATATATAGTATATATATAGTATATATAGTATATAT ATAGTATATATATAGTATATATAGTATATATATGTATATATATATAGTAT ATATATAGTATATATATATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(352): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATTTATATAAATACATTATATTTTATATATTTATATAAATACATTATAT TTTATATATTTATATAAATATATTATATTTTATATAATATATTATATATA ATATATAATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0239 a0001c0001t0020g0239	1	290	0.0035	359	c.-53 others(378): Show c.-53-10372_-53-10371insTATTATATATTATATATAATATATTA TATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTATA TAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATATAT AATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAGT CATATATTATATAAATATATAATATATAGTCATATATTATATAAATATAT AATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(352): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	386	0.0026	359	c.129 others(374): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L2_chr6_130834347_131068245	130975424	T T	TAAAAAAT others(352): Show TAAAAAATCATCCTACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAAT TAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAG ATCGTGCCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19010.hp1 NA19005.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0313 a0001c0001t0001g0314	2	356	0.0056	359	c.-14 others(378): Show c.-14-18926_-14-18925insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTG CTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAAG CTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTAGTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGGTAGGATGATTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
ERICH5_chr8_98059568_98098609	98069744	C C	CAAAGGGT others(352): Show CAAAGGGTGTACGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAG GCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0273 a0011c0010t0002g0273	1	442	0.0023	359	c.58+ others(374): Show c.58+5031_58+5032insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGG CTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGGGTGTACGCA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM240C_chr2_241888988_241905464	241896531	T T	TGGGGGTG others(352): Show TGGGGGTGTGTGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGGT GTGGGTGAAGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGGTGTGTGT GTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGGTGTGGGTGAAGGGG GTGTGGGTGAAGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGGTGTGT GTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGGTGTGTGTGTTGG GGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGG TGTTGGGGTGTGGGTGTTGGGGTGTGTGTGTTGGGGTGTGGGTGTGGGGG TGTGGGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19004.hp2 HG02273.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0008 a0002c0002t0001g0009	2	37	0.0541	359	c.161 others(374): Show c.161+654_161+655insCACACCCACACCCCCACACCCACACCCCAA CACACACACCCCAACACCCACACCCCAACACCCACACCCCCACACCCACA CCCCCACACCCACACCCCCACACCCACACCCCAACACACACACCCCCAAC ACCCACACCCCCACACCCACACCCCAACACACACACCCCCAACACCCACA CCCCCACACCCACACCCCCTTCACCCACACCCCCTTCACCCACACCCCCT TCACCCACACCCCCACACCCACACCCCAACACACACACCCCCAACACCCA CACCCCCACACCCACACCCCCTTCACCCACACCCCCTTCACCCACACCCC CACACCCACACCCCAACACACACACCCCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FBN2_chr5_128252909_128543245	128254215	T T	TAGAAAGG others(352): Show TAGAAAGGAGCTTTGTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ACTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCTCCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	236	0.0042	359	c.52 others(370): Show c.5239_*5240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAGTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCCACAAAGCTCCTTTCT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		3693		chr5	TogoVar
FILIP1_chr6_75303090_75498800	75396049	A A	AGTGTCTT others(352): Show AGTGTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	306	0.0033	359	c.276 others(378): Show c.276+18647_276+18648insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCACCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAGACAC	FILIP1	ENSG00000118407.15	transcript	ENST00000237172.12	protein_coding	2/5			chr6	TogoVar
FOXP1_chr3_70949708_71588728	71435561	A A	AGGGACGG others(352): Show AGGGACGGAGGGAGGGCGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAG GGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0064 a0001c0001t0071g0064	1	96	0.0104	359	c.-16 others(380): Show c.-168+57864_-168+57865insCCCTCCCTCCGTCCCTTCTTCCCT CCCTCCGTCCCTTCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTCCCGCCCTCCCTCCGTCCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar

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