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
DEFA1_chr8_6972649_6985092	6984518	CCCCCAGC others(43): Show CCCCCAGCATCCCACATATACTAAGAGTGCTGGTGCCTTTGAAGCCCAGC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	408	0.0025	-50	c.-45 others(61): Show c.-4568_-4519delAGCTGGGCTTCAAAGGCACCAGCACTCTTAGTAT ATGTGGGATGCTGGGG	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		4427		chr8	TogoVar
DEFB116_chr20_31298212_31313585	31302248	TAAAATGT others(43): Show TAAAATGTAAAGAATGCTTACATTTTTCAACAAGAAAGACACTGGCAACC A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01361.hp2 HG01891.hp2 others(5): Show HG01167.hp2 HG01361.hp2 HG01891.hp2 HG02486.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0049 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0049	8	414	0.0193	-50	c.91 others(59): Show c.914_*963delTGGTTGCCAGTGTCTTTCTTGTTGAAAAATGTAAGC ATTCTTTACATTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		963		chr20	TogoVar
DEGS2_chr14_100138957_100164645	100155757	CTTCCGGG others(43): Show CTTCCGGGATTTCCTCTTTTGTTTTTCTTTATTTGAATTTTTGTATTACC A	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0092 a0001c0003t0010g0092	1	438	0.0023	-50	c.82+ others(65): Show c.82+3699_82+3748delTGGTAATACAAAAATTCAAATAAAGAAAAA CAAAAGAGGAAATCCCGGAA	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding	1/2			chr14	TogoVar
DGAT1_chr8_144309584_144331852	144313639	GCCTCCCC others(43): Show GCCTCCCCGCCCCGCCTCCCCGCCGCGCCGCCCCGCCTCCCCGCCCCGCC T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	2	365	0.0055	-50	c.28 others(61): Show c.2865_*2914delAGGCGGGGCGGGGAGGCGGGGCGGCGCGGCGGGG AGGCGGGGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		944		chr8	TogoVar
DGKK_chrX_50360409_50475825	50447333	TATATATA others(43): Show TATATATATATTATATATATATATAATATATATATATTATATATATATAT A	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp1 HG03209.hp1 others(1): Show HG02723.hp1 HG03195.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0143 a0001c0003t0002g0151 a0001c0003t0005g0150 others(1): Show a0001c0003t0002g0143 a0001c0003t0002g0151 a0001c0003t0005g0150 a0001c0003t0005g0152	4	246	0.0163	-50	c.645 others(69): Show c.645+22651_645+22700delTATATATATATATAATATATATATAT TATATATATATATAATATATATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHRS12_chr13_51762993_51809163	51774574	TGTATTCT others(43): Show TGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTAC A	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0238 a0002c0002t0003g0238	1	418	0.0024	-50	c.364 others(65): Show c.364-590_364-541delTGTAGAATACATGTAGGAGAATACTGTAGG AGAATACTGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS9_chr2_169064563_169101167	169079965	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	393	0.0025	-50	c.-59 others(67): Show c.-59-1554_-59-1505delGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079969	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	392	0.0026	-50	c.-59 others(67): Show c.-59-1550_-59-1501delGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228378	AGGAATGA others(43): Show AGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAG G	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	45	0.0222	-50	c.805 others(67): Show c.805-7199_805-7150delCCTTCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTTCATTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2253357	GGGAGGCG others(43): Show GGGAGGCGGACATGGCCGTGAGCCAAGATGGCGCCACGGCACTCCAGCCT A	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp2 HG02071.hp1 others(2): Show HG01496.hp1 HG02004.hp2 HG02071.hp1 HG02293.hp2 HG02698.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0004c0014 a0002c0002 a0004c0004 a0004c0014	a0002c0002t0003 a0004c0004t0003 a0004c0014t0003 a0002c0002t0003 a0004c0004t0003 a0004c0014t0003	a0002c0002t0003g0012 a0004c0004t0003g0010 a0004c0004t0003g0014 others(2): Show a0002c0002t0003g0012 a0004c0004t0003g0010 a0004c0004t0003g0014 a0004c0004t0003g0043 a0004c0014t0003g0040	5	48	0.1042	-50	c.597 others(69): Show c.597-10177_597-10128delTAGGCTGGAGTGCCGTGGCGCCATCT TGGCTCACGGCCATGTCCGCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2502224	ACTGACAC others(43): Show ACTGACACCACAGAACCTGCCCCAAGCACGGACCCCACACCCCAGTTCCT G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18952.hp2 NA18966.hp1 others(2): Show NA18948.hp1 NA18952.hp2 NA18966.hp1 NA19005.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0010t0010 a0002c0002t0002 a0001c0001t0001 a0001c0010t0010 a0002c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0010t0010g0011 a0002c0002t0002g0013	5	44	0.1136	-50	c.-13 others(61): Show c.-1349_-1300delCAGGAACTGGGGTGTGGGGTCCGTGCTTGGGGCA GGTTCTGTGGTGTCAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding		1249		chrX	TogoVar
DHX32_chr10_125831337_125886292	125878665	TCTACACT others(43): Show TCTACACTACCTTGTTTTTCTTGGTGTTTTTTTTTGTTTTGTTTTGTTTT C	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	422	0.0024	-50	c.282 others(67): Show c.282+1828_282+1877delGAAAACAAAACAAAACAAAAAAAAACAC CAAGAAAAACAAGGTAGTGTAG	DHX32	ENSG00000089876.12	transcript	ENST00000284690.4	protein_coding	1/10			chr10	TogoVar
DIP2C_chr10_269201_694668	321527	CTGCGGGG others(43): Show CTGCGGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGG G	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19066.hp2 HG00621.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0085 a0001c0002t0003g0069 a0001c0001t0003g0085 a0001c0002t0003g0069	2	88	0.0227	-50	c.392 others(69): Show c.3924+5429_3924+5478delCCCCCGACTGACTGTTCTAACAGCGC CGGTCTCTCGCTGGAGCCCCCGCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321535	GCTCCAGC others(43): Show GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGG C	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	81	0.0123	-50	c.392 others(69): Show c.3924+5421_3924+5470delGCCCCGCACCCCCGACTGACTGTTCT AACAGCGCCGGTCTCTCGCTGGAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	448662	ACTCACCC others(43): Show ACTCACCCCTGTCGATATTCAGGATCACACACAGTGGGGCAGCAGGACCC G	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0018t0003 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 others(17): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 a0001c0002t0001g0080 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0084 a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0005 a0001c0005t0002g0006 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0018t0003g0007 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	20	88	0.2273	-50	c.269 others(67): Show c.269-7716_269-7667delCGGGTCCTGCTGCCCCACTGTGTGTGAT CCTGAATATCGACAGGGGTGAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	448712	GCTCACTC others(43): Show GCTCACTCCCATCAATACTCATGATCACACACAGTGGGGCAGCAGGACCC A	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	88	0.0114	-50	c.269 others(67): Show c.269-7766_269-7717delTGGGTCCTGCTGCCCCACTGTGTGTGAT CATGAGTATTGATGGGAGTGAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978602	CTATATAT others(43): Show CTATATATATATATCTATATCTATATATATATATATATCTATATATATAT A	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	380	0.0026	-50	c.657 others(67): Show c.657+5621_657+5670delATATATCTATATCTATATATATATATAT ATCTATATATATATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978610	ATATATCT others(43): Show ATATATCTATATCTATATATATATATATATCTATATATATATATATATAT C	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	291	0.0034	-50	c.657 others(67): Show c.657+5627_657+5676delCTATATCTATATATATATATATATCTAT ATATATATATATATATCTATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978632	ATATATAT others(43): Show ATATATATCTATATATATATATATATATCTATATATAGATATATATATAT C	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03516.hp2 HG01109.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0026 a0001c0002t0001 a0001c0002t0026	a0001c0002t0001g0005 a0001c0002t0026g0005 a0001c0002t0001g0005 a0001c0002t0026g0005	2	405	0.0049	-50	c.657 others(67): Show c.657+5651_657+5700delCTATATATATATATATATATCTATATAT AGATATATATATATCTATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLG1_chr3_197037560_197303612	197051261	CACTCGGG others(43): Show CACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCAGGGAGGCCCCAGC T	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01358.hp2 HG01516.hp1 others(2): Show HG01099.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0003g0242 a0001c0001t0003g0243	5	330	0.0152	-50	c.257 others(67): Show c.2575+266_2575+315delAGCTGGGGCCTCCCTGGCTCAAGCGATT CTCCTGCCTCAGCCTCCCGAGT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	24/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	84130492	GTATATAT others(43): Show GTATATATATATATACACACACACACACACACATATATGTGTGTGTGTAT A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 NA18522.hp1 HG01884.hp1 HG02717.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0001 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0010 a0001c0001t0006g0012 a0001c0001t0011g0013 a0001c0001t0001g0010 a0001c0001t0006g0012 a0001c0001t0011g0013	3	12	0.2500	-50	c.625 others(69): Show c.625-31495_625-31446delTATACACACACACATATATGTGTGTG TGTGTGTGTGTATATATATATATA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	9/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84502202	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC T	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	4	0.2500	-50	c.519 others(69): Show c.519+32318_519+32367delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAG	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	1197649	CCAATGTG others(43): Show CCAATGTGGAGCATCTGGGCCACCAGCTGTCCATATAAACCTGAGCCACG T	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01071.hp1 others(31): Show HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0009 others(8): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 others(26): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 a0001c0009t0012 a0001c0010t0025 a0001c0011t0015 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0003c0005t0002 a0003c0005t0004 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0006g0011 others(31): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0011t0015g0001 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0002g0030 a0003c0005t0004g0037 a0004c0008t0016g0028	34	40	0.8500	-50	c.74- others(67): Show c.74-61152_74-61103delTCAATGTGGAGCATCTGGGCCACCAGCT GTCCATATAAACCTGAGCCACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1236308	ACATGGCG others(43): Show ACATGGCGCCGTGTCTGGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTC C	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-50	c.74- others(67): Show c.74-22527_74-22478delGGTTCTCTCACATGGCGCCGTGTCTAGT TCTCTCCCATGGCGCCGTGTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1238435	GTTCTCTC others(43): Show GTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGCACCATGTCTG C	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03516.hp1 HG01361.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0023 a0001c0011t0015 a0001c0002t0023 a0001c0011t0015	a0001c0002t0023g0005 a0001c0011t0015g0001 a0001c0002t0023g0005 a0001c0011t0015g0001	2	40	0.0500	-50	c.74- others(67): Show c.74-20376_74-20327delACCATGTCTGCTTCTCTCACATGGCGCC GTGTCTAGTTCTCTCACATGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1240191	TCGTGTCT others(43): Show TCGTGTCTAGTTCTCTCACATGGCACTGTGTCTAGTTCTCTCACATGGCG C	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01496.hp1 others(7): Show HG00639.hp1 HG01071.hp1 HG01496.hp1 HG02071.hp1 HG02698.hp1 HG02698.hp2 HG02922.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0002c0001t0003 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026	a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0010g0008 others(7): Show a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0010g0008 a0001c0003t0001g0025 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0019g0031 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016	10	40	0.2500	-50	c.74- others(67): Show c.74-18644_74-18595delCACATGGCACTGTGTCTAGTTCTCTCAC ATGGCGCCGTGTCTAGTTCTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1241171	GTGGCGCC others(43): Show GTGGCGCCGTGTCTCGTTCTCTCACATGGAGCCATGTCTAATTCTCTCAC A	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	31	0.0323	-50	c.74- others(67): Show c.74-17666_74-17617delCGTTCTCTCACATGGAGCCATGTCTAAT TCTCTCACATGGCGCCGTGTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1302251	CATTTTCT others(43): Show CATTTTCTGTGAGTTCCCGAGCTCTGCTCCACACCTGGGACCGGACTCGG A	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01891.hp1 others(16): Show HG00639.hp1 HG00639.hp2 HG01891.hp1 HG01891.hp2 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0002c0001 a0002c0004 a0002c0006 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 others(14): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0022 a0001c0003t0006 a0001c0003t0014 a0001c0003t0024 a0001c0009t0012 a0001c0010t0025 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0002c0001t0020 a0002c0004t0018 a0002c0006t0021 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0006g0011 others(16): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0009t0012g0006 a0001c0010t0025g0012 a0002c0001t0002g0013 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0019g0031 a0002c0001t0020g0024 a0002c0004t0018g0010 a0002c0006t0021g0014 a0003c0005t0002g0030 a0004c0008t0016g0028	19	38	0.5000	-50	c.106 others(69): Show c.106+43449_106+43498delCACCTGGGACCGGACTCGGAATTTTC TGTGAGTTCCCGAGCTCTGCTCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1379834	CTCCCTTC others(43): Show CTCCCTTCCCTCCCCTCCTGCTCGGTGGGGGCCTGCTGATTTGGGGTGCC T	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG02258.hp1 others(5): Show HG00639.hp1 HG01361.hp1 HG02258.hp1 HG02647.hp1 HG02698.hp1 HG02976.hp2 HG03486.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001	a0001c0002t0001 a0001c0002t0022 a0001c0003t0017 others(4): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0017 a0001c0009t0012 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0022g0034 others(5): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0022g0034 a0001c0003t0017g0004 a0001c0009t0012g0006 a0002c0001t0001g0018 a0002c0001t0003g0017 a0002c0001t0005g0029	8	40	0.2000	-50	c.106 others(71): Show c.106+120986_106+121035delCTGATTTGGGGTGCCTTCCCTTCC CTCCCCTCCTGCTCGGTGGGGGCCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1388957	GGCAGAGG others(43): Show GGCAGAGGCCGTGGATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTGTGAG A	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	40	0.0250	-50	c.107 others(71): Show c.107-112335_107-112286delGCTGGTTCAGGTGTCAGGGCTGTG AGAGCAGAGGCCGTGGATGAGGAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1409115	GCTCACCA others(43): Show GCTCACCATAGCAGGCGCCCGGCTCCCCTTGGACCACTGCCCAGTTCCTT C	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02074.hp1 others(5): Show HG00639.hp2 HG01496.hp2 HG02074.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG03516.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0010 a0002c0001 others(2): Show a0001c0003 a0001c0010 a0002c0001 a0002c0006 a0003c0005	a0001c0003t0001 a0001c0003t0013 a0001c0010t0025 others(4): Show a0001c0003t0001 a0001c0003t0013 a0001c0010t0025 a0002c0001t0020 a0002c0006t0021 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0013g0007 others(5): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0013g0007 a0001c0010t0025g0012 a0002c0001t0020g0024 a0002c0006t0021g0014 a0003c0005t0002g0030 a0003c0005t0004g0037	8	40	0.2000	-50	c.107 others(69): Show c.107-92232_107-92183delCGGCTCCCCTTGGACCACTGCCCAGT TCCTTCCTCACCATAGCAGGCGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1568861	TCCACTCA others(43): Show TCCACTCAGCAGACACAAATCCATCTCTGCCTGCGGCCCCCATGCCACTG C	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG01496.hp1 others(18): Show HG01071.hp2 HG01361.hp1 HG01496.hp1 HG02071.hp1 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0007 a0004c0008	a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 others(14): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0007t0008 a0004c0008t0016	a0001c0002t0002g0022 a0001c0003t0001g0026 a0001c0003t0001g0027 others(18): Show a0001c0002t0002g0022 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0017g0004 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0007t0008g0040 a0004c0008t0016g0028	21	40	0.5250	-50	c.144 others(69): Show c.1442+2990_1442+3039delTCTCTGCCTGCGGCCCCCATGCCACT GCCCACTCAGCAGACACAAATCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1568941	CGTGGCCT others(43): Show CGTGGCCTCCATGCCACTGTCCACTCAGCAGACACAAATCCATCTCTGCC T	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-50	c.144 others(69): Show c.1442+3054_1442+3103delTCCATGCCACTGTCCACTCAGCAGAC ACAAATCCATCTCTGCCTGTGGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLX2_chr2_172094438_172107900	172101198	GAGGGCCA others(43): Show GAGGGCCAGTTATTTCACCCGCTTAATCAGTAGCGAGAGGTACGGGATTT C	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	388	0.0026	-50	c.585 others(65): Show c.585+214_586-255delGAAATCCCGTACCTCTCGCTACTGATTAAG CGGGTGAAATAACTGGCCCT	DLX2	ENSG00000115844.11	transcript	ENST00000234198.9	protein_coding	2/2			chr2	TogoVar
DMD_chrX_31114222_33216549	31421904	CACACACA others(43): Show CACACACACACATATATATATATATATATACACACACACATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0027 a0027	a0027c0044 a0027c0044	a0027c0044t0003 a0027c0044t0003	a0027c0044t0003g0122 a0027c0044t0003g0122	1	124	0.0081	-50	c.908 others(71): Show c.9084+22527_9084+22576delATATATATATATGTGTGTGTGTAT ATATATATATATATATGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32335979	TGTTATAT others(43): Show TGTTATATATAACGTGTATATATAACGTTATATATAACGTGTATATATAA C	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02486.hp1 HG01099.hp1 HG02486.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0011 a0003c0003 a0008c0011	a0003c0003t0001 a0008c0011t0001 a0003c0003t0001 a0008c0011t0001	a0003c0003t0001g0046 a0008c0011t0001g0036 a0003c0003t0001g0046 a0008c0011t0001g0036	2	52	0.0385	-50	c.592 others(69): Show c.5922+6071_5922+6120delGTTATATATACACGTTATATATAACG TTATATATACACGTTATATATAAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009133	TATATATA others(43): Show TATATATATGTGTATATATACGTATATATGTATATATATGTGTATATATA C	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp1 HG01074.hp1 others(34): Show HG00609.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01934.hp1 HG02027.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02735.hp1 HG03017.hp1 HG03490.hp1 HG03942.hp1 HG04228.hp1 NA18940.hp1 NA18952.hp1 NA18955.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19066.hp1 NA19068.hp1 NA19085.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0018 a0019 a0031 a0032 a0033	a0001c0001 a0001c0002 a0002c0005 others(18): Show a0001c0001 a0001c0002 a0002c0005 a0002c0016 a0003c0003 a0003c0061 a0004c0004 a0004c0012 a0005c0007 a0006c0006 a0006c0030 a0007c0019 a0009c0015 a0011c0038 a0012c0033 a0013c0048 a0018c0039 a0019c0032 a0031c0037 a0032c0045 a0033c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0016t0001 a0003c0003t0001 a0003c0003t0002 a0003c0061t0001 a0004c0004t0001 a0004c0012t0001 a0004c0012t0002 a0005c0007t0001 a0006c0006t0001 a0006c0006t0003 a0006c0030t0004 a0007c0019t0001 a0009c0015t0001 a0011c0038t0001 a0012c0033t0001 a0013c0048t0001 a0018c0039t0001 a0019c0032t0001 a0031c0037t0004 a0032c0045t0001 a0033c0049t0001	a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0076 others(34): Show a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0003g0016 a0001c0001t0010g0008 a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0002g0052 a0002c0005t0001g0037 a0002c0005t0001g0043 a0002c0005t0002g0015 a0002c0016t0001g0057 a0003c0003t0001g0028 a0003c0003t0001g0060 a0003c0003t0002g0027 a0003c0061t0001g0072 a0004c0004t0001g0038 a0004c0004t0001g0084 a0004c0012t0001g0064 a0004c0012t0002g0031 a0005c0007t0001g0056 a0006c0006t0001g0044 a0006c0006t0003g0026 a0006c0030t0004g0070 a0007c0019t0001g0048 a0007c0019t0001g0058 a0009c0015t0001g0098 a0011c0038t0001g0045 a0012c0033t0001g0102 a0013c0048t0001g0066 a0018c0039t0001g0040 a0019c0032t0001g0009 a0031c0037t0004g0067 a0032c0045t0001g0078 a0033c0049t0001g0119	37	125	0.2960	-50	c.93+ others(67): Show c.93+10956_93+11005delGTATATATACACATATATATACATATAT ACGTATATATACACATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009950	GTATGTGT others(43): Show GTATGTGTATATACACATATGTGTGTATACACATGTGTGTATATACACGT A	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG02965.hp1 HG03225.hp1	a0002 a0003 a0002 a0003	a0002c0051 a0003c0010 a0002c0051 a0003c0010	a0002c0051t0003 a0003c0010t0007 a0002c0051t0003 a0003c0010t0007	a0002c0051t0003g0091 a0003c0010t0007g0010 a0002c0051t0003g0091 a0003c0010t0007g0010	2	125	0.0160	-50	c.93+ others(67): Show c.93+10139_93+10188delTACGTGTATATACACACATGTGTATACA CACATATGTGTATATACACATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF4_chr15_55425308_55513234	55511025	TCTTAACT others(43): Show TCTTAACTACCAGGCCCAGGGCGTGATGCTGGGCTATCTGCCTGTGGATT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	336	0.0030	-50	c.-32 others(61): Show c.-3209_-3160delGAATCCACAGGCAGATAGCCCAGCATCACGCCCT GGGCCTGGTAGTTAAG	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding		2792		chr15	TogoVar
DNAH14_chr1_224924675_225404286	225078793	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTC C	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18948.hp2 NA18964.hp2 others(2): Show NA18747.hp1 NA18948.hp2 NA18964.hp2 NA19002.hp1 NA20805.hp2	a0001 a0017 a0024 others(2): Show a0001 a0017 a0024 a0092 a0100	a0001c0001 a0017c0018 a0024c0028 others(2): Show a0001c0001 a0017c0018 a0024c0028 a0092c0094 a0100c0095	a0001c0001t0001 a0017c0018t0001 a0024c0028t0001 others(2): Show a0001c0001t0001 a0017c0018t0001 a0024c0028t0001 a0092c0094t0001 a0100c0095t0001	a0001c0001t0001g0132 a0017c0018t0001g0183 a0024c0028t0001g0139 others(2): Show a0001c0001t0001g0132 a0017c0018t0001g0183 a0024c0028t0001g0139 a0092c0094t0001g0140 a0100c0095t0001g0141	5	238	0.0210	-50	c.242 others(67): Show c.2425-398_2425-349delTCTCTCTCTCTCTCTCCCTCTCTCTCTC TCTCTCCCTCTCTCTCTCTCTC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225078809	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTC C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0038 a0038	a0038c0097 a0038c0097	a0038c0097t0001 a0038c0097t0001	a0038c0097t0001g0187 a0038c0097t0001g0187	1	236	0.0042	-50	c.242 others(67): Show c.2425-382_2425-333delCCTCTCTCTCTCTCTCTCCCTCTCTCTC TCTCTCCCTCTCTCTCTCTCTC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225210514	GGGGCTTA others(43): Show GGGGCTTATAGATAAAACTCCCATCTGCCTGGGACAGAGCACCTGGGGGA A	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0068 a0068	a0068c0116 a0068c0116	a0068c0116t0001 a0068c0116t0001	a0068c0116t0001g0240 a0068c0116t0001g0240	1	238	0.0042	-50	c.643 others(69): Show c.6439+3298_6439+3347delCTTATAGATAAAACTCCCATCTGCCT GGGACAGAGCACCTGGGGGAAGGG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	41/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAI4_chr1_66807885_66929856	66836198	AAGAAAGA others(43): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA G	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	243	0.0041	-50	c.158 others(67): Show c.1582-471_1582-422delCTCTTTCTTTCTTTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTTCTTTCT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	10/16			chr1	TogoVar
DOCK10_chr2_224760090_225047468	225035587	TAACACTG others(43): Show TAACACTGAATCAGTGTTAATTGTGTGTTGTATTAGTCAGTGCGGGCTGC C	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 NA18906.hp1 HG03453.hp1 HG03471.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0001 a0002c0007t0003 a0001c0001t0001 a0002c0002t0001 a0002c0007t0003	a0001c0001t0001g0067 a0002c0002t0001g0064 a0002c0007t0003g0074 a0001c0001t0001g0067 a0002c0002t0001g0064 a0002c0007t0003g0074	3	153	0.0196	-50	c.123 others(67): Show c.123+6615_123+6664delGGCAGCCCGCACTGACTAATACAACACA CAATTAACACTGATTCAGTGTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOK7_chr4_3458306_3499482	3468153	AGTGTGTG others(43): Show AGTGTGTGTGTGCATGTGAATACCTGTGTGTGGGGGTGTGTGTGCACAAG T	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02895.hp1 others(8): Show HG02257.hp1 HG02280.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03209.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0137 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0158	11	402	0.0274	-50	c.100 others(67): Show c.100+4632_100+4681delTGGGGGTGTGTGTGCACAAGTGTGTGTG TGTGCATGTGAATACCTGTGTG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02735.hp1 others(4): Show HG01168.hp1 HG01169.hp1 HG02735.hp1 HG03834.hp2 HG04115.hp1 NA18959.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0087 a0001c0001t0001g0094	7	78	0.0897	-50	c.65 others(59): Show c.653_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	653		chr21	TogoVar
DPEP1_chr16_89608642_89643433	89619789	CTCCCTGC others(43): Show CTCCCTGCAGCGCCCTGTGCCCCCCACTCCCCTCTCTGCAGCCCCCTGCG T	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	248	0.0040	-50	c.-10 others(69): Show c.-107+6071_-107+6120delTCCCTGCAGCGCCCTGTGCCCCCCAC TCCCCTCTCTGCAGCCCCCTGCGT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPP10_chr2_114437641_115850780	115426020	CTCTTACC others(43): Show CTCTTACCAGGTGCCACCTCCGACACTGGAGATGACATTTCAACATGAGA T	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	56	0.0179	-50	c.272 others(69): Show c.272-73486_272-73437delTACCAGGTGCCACCTCCGACACTGGA GATGACATTTCAACATGAGATTCT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115426044	ACTGGAGA others(43): Show ACTGGAGATGACATTTCAACATGAGATTCTCACCAGGTGCCACCTCCGAC G	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG03579.hp1 others(1): Show HG02809.hp1 HG02896.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0015 others(1): Show a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0017	4	51	0.0784	-50	c.272 others(69): Show c.272-73190_272-73141delTTCTCACCAGGTGCCACCTCCGACGC TGGAGATGACATTTCAACATGAGA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115426385	ACTCCGAC others(43): Show ACTCCGACGCTGGAGATGACATTTCAACATGAGATTCTCACCAGGTGCCA C	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG02735.hp1 others(15): Show HG00639.hp2 HG01192.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG03195.hp2 HG03239.hp1 HG03579.hp1 NA18986.hp1 NA19043.hp2 NA19079.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0004 a0002c0001 others(3): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003 a0004c0005 a0005c0007	a0001c0002t0001 a0001c0002t0009 a0001c0004t0008 others(7): Show a0001c0002t0001 a0001c0002t0009 a0001c0004t0008 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0003c0003t0003 a0004c0005t0012 a0004c0005t0016 a0005c0007t0011	a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0012 others(15): Show a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0009g0034 a0001c0004t0008g0045 a0002c0001t0001g0040 a0002c0001t0002g0055 a0002c0001t0005g0027 a0002c0001t0005g0029 a0003c0003t0003g0048 a0003c0003t0003g0049 a0004c0005t0012g0031 a0004c0005t0016g0044 a0005c0007t0011g0052	18	56	0.3214	-50	c.272 others(69): Show c.272-72971_272-72922delCGACGCTGGAGATGACATTTCAACAT GAGATTCTCACCAGGTGCCACCTC	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar

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