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
DHCR24_chr1_54844627_54892195	54850503	C C	CTAAGACA others(43): Show CTAAGACACTGGCAGTGTGCCAAGCCTTGGGTGGGATGGGTGAACACCCT T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0063 a0001c0001t0020g0063	1	386	0.0026	50	c.16 others(61): Show c.1680_*1729dupAAGGGTGTTCACCCATCCCACCCAAGGCTTGGCA CACTGCCAGTGTCTTA	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	9/9	1729		chr1	TogoVar
DHRSX_chrX_2214506_2505976	2468500	G G	GAAGAATG others(43): Show GAAGAATGTGGCCAAGGGACCGCCACTGTGTACGAACTGAAGACGTTTTC T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01928.hp1 HG02055.hp1 others(7): Show HG01261.hp1 HG01928.hp1 HG02055.hp1 HG02074.hp1 HG03130.hp1 HG03471.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp2 NA18960.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0008 a0007c0009	a0001c0001t0001 a0002c0002t0003 a0004c0004t0005 others(2): Show a0001c0001t0001 a0002c0002t0003 a0004c0004t0005 a0005c0008t0006 a0007c0009t0013	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0037 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0002c0002t0003g0045 a0004c0004t0005g0030 a0005c0008t0006g0001 a0007c0009t0013g0005	10	50	0.2000	50	c.109 others(69): Show c.109+32316_109+32317insAGAAAACGTCTTCAGTTCGTACACAG TGGCGGTCCCTTGGCCACATTCTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2478588	G G	GCACTGAA others(43): Show GCACTGAAGACATTCCCTAAGCATGTGGCCCTGGGACATCCACAGTGTAC A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG02647.hp1 HG02886.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0006c0013t0015 a0001c0001t0001 a0006c0013t0015	a0001c0001t0001g0003 a0006c0013t0015g0011 a0001c0001t0001g0003 a0006c0013t0015g0011	2	50	0.0400	50	c.109 others(69): Show c.109+22228_109+22229insTGTACACTGTGGATGTCCCAGGGCCA CATGCTTAGGGAATGTCTTCAGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2478609	C C	CATGTGGC others(43): Show CATGTGGCCCTGGGACATCCACAGTGTACACACTGAAGACATTCCCTAAG A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02698.hp1 HG02717.hp1 others(2): Show HG01934.hp1 HG02698.hp1 HG02717.hp1 NA18522.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0004 a0003c0003t0002 others(1): Show a0001c0001t0001 a0002c0002t0004 a0003c0003t0002 a0004c0004t0005	a0001c0001t0001g0029 a0002c0002t0004g0035 a0003c0003t0002g0013 others(2): Show a0001c0001t0001g0029 a0002c0002t0004g0035 a0003c0003t0002g0013 a0003c0003t0002g0018 a0004c0004t0005g0009	5	50	0.1000	50	c.109 others(69): Show c.109+22207_109+22208insTCTTAGGGAATGTCTTCAGTGTGTAC ACTGTGGATGTCCCAGGGCCACAT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2502224	A A	ACTGACAC others(43): Show ACTGACACCACAGAACCTGCCCCAAGCACGGACCCCACACCCCAGTTCCT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03130.hp1 NA18747.hp1 others(1): Show HG02922.hp1 HG03130.hp1 NA18747.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0012g0027	4	50	0.0800	50	c.-13 others(61): Show c.-1349_-1300dupCAGGAACTGGGGTGTGGGGTCCGTGCTTGGGGCA GGTTCTGTGGTGTCAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding		1249		chrX	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATTTATATATAT T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	336	0.0030	50	c.118 others(67): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATATATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	97185329	A A	ATATATAT others(43): Show ATATATATATATGTATATATATATGTGTATATATATATGTATATATATAT G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01943.hp1 HG01981.hp1 others(2): Show HG01256.hp1 HG01943.hp1 HG01981.hp1 HG04228.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0002g0103 a0001c0001t0007g0049	5	147	0.0340	50	c.271 others(71): Show c.2719+43562_2719+43563insATATATATATGTATATATATATGT ATATATATATGTATATATATATGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185393	G G	GTATATAT others(43): Show GTATATATATGTGTGTATATATATATATGTATATATATATGTATATATAT A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	147	0.0068	50	c.271 others(71): Show c.2719+43600_2719+43601insATATATATGTGTGTATATATATAT ATGTATATATATATGTATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(43): Show TCTCCTCTCCCCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCC C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0191	1	284	0.0035	50	c.101 others(69): Show c.101-32230_101-32229insTCTCCCCTCCTCTCCTCTCCTCTCCC CTCCCCTCCCCTCCCCTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(43): Show TCTCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCCCTCC C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0251 a0001c0002t0004g0251	1	284	0.0035	50	c.101 others(69): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCCCTCCTCTCCT CTCCTCTCCTCTCCCCTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	321874	C C	CGGGGCTC others(43): Show CGGGGCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGC G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	88	0.0114	50	c.392 others(69): Show c.3924+5131_3924+5132insCGCACCCCCGACTGACTGTTCTAACA ACGCCGGTCTCTCGCTGGAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322903	C C	CGGGGGTC others(43): Show CGGGGGTCCAGCGAGAGACTGGCGCTGTTAGAACAGTCAGTCGGGGGTGC G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	50	c.392 others(69): Show c.3924+4102_3924+4103insCGCACCCCCGACTGACTGTTCTAACA GCGCCAGTCTCTCGCTGGACCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323108	G G	GGCGAGAG others(43): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGCTCC A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	88	0.0114	50	c.392 others(69): Show c.3924+3897_3924+3898insTGGAGCCCCCGCACCCCCGACTGACT GTTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323197	C C	CGGGGCTC others(43): Show CGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	50	c.392 others(69): Show c.3924+3808_3924+3809insCGCACCCCCGACTGACTGTTCTAACA ACACTGGTCTCTCGCCGGAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323393	C C	CGGGGCTC others(43): Show CGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	88	0.0114	50	c.392 others(69): Show c.3924+3612_3924+3613insCGCACCCCCGACTGACTGTTCTAACA GCGCCGGTCTCTCACTGGAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323402	G G	GGCGAGAG others(43): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGCTCC A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0046 a0001c0006t0002g0046	1	88	0.0114	50	c.392 others(69): Show c.3924+3603_3924+3604insTGGAGCCCCCGCACCCCCGACTGACT GTTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	447771	G G	GTCTATAC others(43): Show GTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCCC A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02717.hp2 HG00673.hp1 HG02027.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0002 a0001c0016t0009 a0001c0003t0002 a0001c0016t0009	a0001c0003t0002g0040 a0001c0003t0002g0054 a0001c0016t0009g0073 a0001c0003t0002g0040 a0001c0003t0002g0054 a0001c0016t0009g0073	3	88	0.0341	50	c.269 others(67): Show c.269-6776_269-6775insTGGGGATGAGTGGGTCCTGCTGCCCCAC TGTGTGTGATCCTGAGTATAGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	448071	G G	GTCTATAC others(43): Show GTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCCC A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	88	0.0114	50	c.269 others(67): Show c.269-7125_269-7076dupTGGGGATGAGTGGGTCCTGCTGCCCCAC TGTGTGTGATCCTGAGTATAGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	448491	C C	CAGTGGGG others(43): Show CAGTGGGGCAGCAGGACCGAATCACCCCCGTCGATAATCAGGATCACACA A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02717.hp2 HG00673.hp1 HG02027.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0002 a0001c0016t0009 a0001c0003t0002 a0001c0016t0009	a0001c0003t0002g0040 a0001c0003t0002g0054 a0001c0016t0009g0073 a0001c0003t0002g0040 a0001c0003t0002g0054 a0001c0016t0009g0073	3	88	0.0341	50	c.269 others(67): Show c.269-7496_269-7495insTTGTGTGATCCTGATTATCGACGGGGGT GATTCGGTCCTGCTGCCCCACT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	449025	T T	TATACTCA others(43): Show TATACTCAGGATCACACACAGTGGGGCAGCAGGACCTGCTCACTCCCGTC G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0045 a0001c0006t0001g0045	1	88	0.0114	50	c.269 others(67): Show c.269-8079_269-8030dupCGACGGGAGTGAGCAGGTCCTGCTGCCC CACTGTGTGTGATCCTGAGTAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477533	A A	AGGAAGGA others(43): Show AGGAAGGAGGGGGCACAGGGGGAGGAAGGGGCACGGGGGAAGGTGGGGGG G	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19074.hp1 HG03834.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0042 a0001c0004t0001g0041 a0001c0002t0003g0042 a0001c0004t0001g0041	2	88	0.0227	50	c.158 others(67): Show c.158-4985_158-4984insCCCCCCCACCTTCCCCCGTGCCCCTTCC TCCCCCTGTGCCCCCTCCTTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608183	C C	CCCACAGC others(43): Show CCCACAGCCCCCCACACACAGCCCCTACACACACACACACACACACACAC A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	50	c.85+ others(67): Show c.85+81310_85+81311insTGTGTGTGTGTGTGTGTGTGTGTGTAGG GGCTGTGTGTGGGGGGCTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608203	C C	CACACACA others(43): Show CACACACACACACACACACACACACAGCCCCTACACACACACACAGCCCC T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02155.hp2 HG02300.hp1 HG00673.hp2 HG02155.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0079 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0001t0001g0079 a0001c0002t0003g0029 a0001c0002t0003g0030	3	88	0.0341	50	c.85+ others(67): Show c.85+81290_85+81291insAGGGGCTGTGTGTGTGTGTAGGGGCTGT GTGTGTGTGTGTGTGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	619529	G G	GGCCAGGG others(43): Show GGCCAGGGCCAGGGCCAGGGCCAGGACCAAGCCCGCCCGCCCTCCCGCCC T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	88	0.0114	50	c.85+ others(67): Show c.85+69964_85+69965insAGGGCGGGAGGGCGGGCGGGCTTGGTCC TGGCCCTGGCCCTGGCCCTGGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846848	T T	TATATACA others(43): Show TATATACACACACGTATATATATATATACACACACGTATATATATATATA C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	200	0.0050	50	c.474 others(65): Show c.474+334_474+335insGTATATATATATATACGTGTGTGTATATAT ATATATACGTGTGTGTATAT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK2A_chr3_143966823_143997368	143978682	C C	CTATATAT others(43): Show CTATATATATATATATATATATCTATATATAGATATATATATATCTATAT A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	408	0.0025	50	c.657 others(67): Show c.657+5713_657+5714insTCTATATATAGATATATATATATCTATA TATATATATATATATATATATA	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19080.hp1 HG02486.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0001 a0001c0001t0003 a0001c0008t0001	a0001c0001t0003g0065 a0001c0008t0001g0274 a0001c0001t0003g0065 a0001c0008t0001g0274	2	400	0.0050	50	c.558 others(65): Show c.558+251_558+252insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(43): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0175 a0001c0003t0004g0175	1	400	0.0025	50	c.558 others(65): Show c.558+251_558+252insAAAAAAAAAATATATATATATATATATATA TATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DLC1_chr8_13078361_13519851	13479829	G G	GAGAAAAA others(43): Show GAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00738.hp1 others(7): Show HG00140.hp2 HG00735.hp1 HG00738.hp1 HG01243.hp1 HG02055.hp2 HG02165.hp1 HG02486.hp2 HG02559.hp1 HG02683.hp2 NA18906.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0004 a0001c0019 others(4): Show a0001c0001 a0001c0004 a0001c0019 a0001c0035 a0002c0006 a0002c0020 a0017c0036	a0001c0001t0001 a0001c0004t0003 a0001c0019t0001 others(5): Show a0001c0001t0001 a0001c0004t0003 a0001c0019t0001 a0001c0019t0003 a0001c0035t0003 a0002c0006t0035 a0002c0020t0002 a0017c0036t0001	a0001c0001t0001g0088 a0001c0004t0003g0018 a0001c0004t0003g0160 others(7): Show a0001c0001t0001g0088 a0001c0004t0003g0018 a0001c0004t0003g0160 a0001c0019t0001g0045 a0001c0019t0003g0043 a0001c0035t0003g0077 a0002c0006t0035g0016 a0002c0020t0002g0046 a0002c0020t0002g0057 a0017c0036t0001g0044	10	212	0.0472	50	c.102 others(71): Show c.1023+19219_1023+19220insTTCTTTCTTTCTTTTCCTTTTCTT TTCTTTCTTTCTTTCTTTCTTTTTCT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13479832	G G	GAGAAAAA others(43): Show GAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0017 a0002c0006t0007g0017	1	212	0.0047	50	c.102 others(71): Show c.1023+19216_1023+19217insTTCTTTCTTTCTTTTCCTTTTCTT TTCTTTCTTTCTTTCTTTCTTTTTCT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13479835	G G	GAGAAAAA others(43): Show GAGAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01071.hp2 others(15): Show HG00639.hp2 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp2 HG01516.hp2 HG01928.hp2 HG01981.hp2 HG02132.hp2 HG02293.hp2 HG02602.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG04115.hp2 NA18963.hp2 NA18966.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0004t0029 a0002c0002t0001 a0002c0002t0002 a0002c0006t0003	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0075 others(15): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0003g0068 a0001c0004t0003g0162 a0001c0004t0029g0121 a0002c0002t0001g0074 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0113 a0002c0002t0002g0126 a0002c0006t0003g0114	18	212	0.0849	50	c.102 others(71): Show c.1023+19213_1023+19214insTTCTTTCTTTCTTTTCCTTTTCTT TTCTTTCTTTCTTTCTTTCTTTTTCT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13506582	T T	TGTGTGTG others(43): Show TGTGTGTGTGTATATATATATATATATATACGTGTATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0026 a0007c0009t0026	a0007c0009t0026g0154 a0007c0009t0026g0154	1	212	0.0047	50	c.-12 others(69): Show c.-125-6387_-125-6386insGTATATATATATATATACACGTATAT ATATATATATATATACACACACAC	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	1/17			chr8	TogoVar
DLG2_chr11_83450173_85632344	85308155	A A	AAAAATAA others(43): Show AAAAATAAAATAAAATAAAATAAGATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	14	0.0714	50	c.41- others(67): Show c.41-22791_41-22790insATTTTATTTTATTTTATTTTATTTTATC TTATTTTATTTTATTTTATTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	965719	G G	GTGCACAC others(43): Show GTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCG C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	50	c.73+ others(67): Show c.73+57773_73+57774insACACAGGGCTCCTGAGTCTGACCCCTGC GCTGCACACGGCACTGTTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	978330	T T	TGGGTTCT others(43): Show TGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGA G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	50	c.73+ others(67): Show c.73+70365_73+70366insGGTTCTGGTCTTTGGTGTTGTGGGGAGG GCGTCGGGGATGCAGTGAGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1302451	A A	AAGTTTCT others(43): Show AAGTTTCTGTGAATTCTCGAGCTCTGCTCCATACCCGGGACTGGACTCAG T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	50	c.106 others(69): Show c.106+43569_106+43570insGTTTCTGTGAATTCTCGAGCTCTGCT CCATACCCGGGACTGGACTCAGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1430013	T T	TATATATA others(43): Show TATATATATATATATACATATATATATATATATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	50	c.107 others(69): Show c.107-71336_107-71335insTATATATATATATATATATATATATA TATATACATATATATATATATACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1568346	C C	CGTGGCCC others(43): Show CGTGGCCCCCGTGCCACTGTCCACTCAGCAGACACAAATCCGTCTCTGCC T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	50	c.144 others(69): Show c.1442+2461_1442+2462insGTGCCACTGTCCACTCAGCAGACACA AATCCGTCTCTGCCTGTGGCCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLX2_chr2_172094438_172107900	172105314	T T	TATTTTAT others(43): Show TATTTTATTTATTCAGTAACTTCCATTAATTAGCAGCCCAAAGTCTAGAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	390	0.0026	50	c.-27 others(61): Show c.-2777_-2776insGATCTAGACTTTGGGCTGCTAATTAATGGAAGTT ACTGAATAAATAAAAT	DLX2	ENSG00000115844.11	transcript	ENST00000234198.9	protein_coding		2415		chr2	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(43): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0002 a0002c0009t0002g0002	1	126	0.0079	50	c.922 others(71): Show c.9224+30434_9224+30435insACACACACACACACACACACACAC ACACACACACACACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0014 a0002c0016t0009g0014	1	126	0.0079	50	c.821 others(71): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA TATAGAGAGAGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0030 a0030	a0030c0037 a0030c0037	a0030c0037t0005 a0030c0037t0005	a0030c0037t0005g0082 a0030c0037t0005g0082	1	126	0.0079	50	c.821 others(71): Show c.8218-52188_8218-52187insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(43): Show GTTTGCTTTGCTTTGCTTTGCTTTGCTTTGCTTTGCTTTGCTTTGCTTTG C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	54	0.0185	50	c.-94 others(67): Show c.-94-4849_-94-4800dupGCAAAGCAAAGCAAAGCAAAGCAAAGCA AAGCAAAGCAAAGCAAAGCAAA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DMXL1_chr5_119066087_119254127	119202891	A A	ATATATAT others(43): Show ATATATATATATATATATATTTATATATATATATATATATATTTATATAT T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0003 a0026c0025t0003	a0026c0025t0003g0006 a0026c0025t0003g0006	1	238	0.0042	50	c.774 others(67): Show c.7746-413_7746-412insATATTTATATATATATATATATATATTT ATATATTTATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	32/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(43): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03139.hp2 HG01099.hp1 HG03139.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0032 a0010c0009t0002g0146 a0010c0009t0002g0032 a0010c0009t0002g0146	2	170	0.0118	50	c.842 others(65): Show c.842-750_842-749insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123786681	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTTTATGTATATATAAACACACACACACACACAC A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0072 a0072	a0072c0075 a0072c0075	a0072c0075t0001 a0072c0075t0001	a0072c0075t0001g0124 a0072c0075t0001g0124	1	170	0.0059	50	c.142 others(67): Show c.1421+745_1421+746insTGTGTGTGTGTGTGTGTTTATGTATATA TAAACACACACACACACACACA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	9/78			chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912233	T T	TGGGGGGG others(43): Show TGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCT G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01517.hp1 others(7): Show HG00738.hp1 HG01071.hp2 HG01517.hp1 HG01943.hp2 HG02922.hp1 HG03098.hp1 HG03942.hp2 NA18522.hp1 NA20752.hp2 NA20805.hp2	a0001 a0004 a0019 others(3): Show a0001 a0004 a0019 a0023 a0027 a0068	a0001c0003 a0004c0006 a0019c0013 others(3): Show a0001c0003 a0004c0006 a0019c0013 a0023c0023 a0027c0025 a0068c0082	a0001c0003t0002 a0004c0006t0001 a0019c0013t0001 others(3): Show a0001c0003t0002 a0004c0006t0001 a0019c0013t0001 a0023c0023t0001 a0027c0025t0001 a0068c0082t0001	a0001c0003t0002g0105 a0004c0006t0001g0061 a0004c0006t0001g0087 others(7): Show a0001c0003t0002g0105 a0004c0006t0001g0061 a0004c0006t0001g0087 a0004c0006t0001g0108 a0019c0013t0001g0098 a0019c0013t0001g0106 a0023c0023t0001g0022 a0027c0025t0001g0147 a0027c0025t0001g0150 a0068c0082t0001g0009	10	170	0.0588	50	c.101 others(69): Show c.10135-860_10135-859insGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02148.hp2 NA19066.hp1 HG02132.hp1 HG02148.hp2 NA19066.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0076 a0010c0092 a0002c0002 a0002c0076 a0010c0092	a0002c0002t0001 a0002c0076t0001 a0010c0092t0001 a0002c0002t0001 a0002c0076t0001 a0010c0092t0001	a0002c0002t0001g0163 a0002c0076t0001g0161 a0010c0092t0001g0202 a0002c0002t0001g0163 a0002c0076t0001g0161 a0010c0092t0001g0202	3	266	0.0113	50	c.730 others(69): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATATATACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18973.hp1 NA18992.hp1 others(1): Show HG02083.hp2 NA18973.hp1 NA18992.hp1 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0121 a0002c0002t0001g0144 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0121 a0002c0002t0001g0144 a0002c0002t0001g0158	4	266	0.0150	50	c.730 others(69): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATATACACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0141 a0002c0023t0001g0141	1	266	0.0038	50	c.730 others(69): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATACACACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

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