Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19066.hp2 HG00544.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0038 a0001c0002t0003g0018 a0001c0002t0003g0038	2	272	0.0074	32	c.-12 others(49): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19076.hp1 NA18939.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0297 a0001c0001t0002g0298 a0001c0001t0001g0297 a0001c0001t0002g0298	2	135	0.0148	32	c.327 others(49): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31341891	G G	GCGCGCGC others(25): Show GCGCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02698.hp1 HG01433.hp1 HG02698.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0015 a0004c0004 a0009c0015	a0004c0004t0001 a0009c0015t0001 a0004c0004t0001 a0009c0015t0001	a0004c0004t0001g0038 a0009c0015t0001g0025 a0004c0004t0001g0038 a0009c0015t0001g0025	2	52	0.0385	32	c.916 others(51): Show c.9163+6664_9163+6665insTGTGTGTGTGTGTGTGTGTGTGCGCG CGCGCG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	61/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31394938	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02717.hp1 HG03130.hp1 others(1): Show HG02698.hp1 HG02717.hp1 HG03130.hp1 NA18959.hp1	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0014	a0001c0002 a0008c0011 a0009c0015 others(1): Show a0001c0002 a0008c0011 a0009c0015 a0014c0050	a0001c0002t0001 a0008c0011t0005 a0009c0015t0001 others(1): Show a0001c0002t0001 a0008c0011t0005 a0009c0015t0001 a0014c0050t0009	a0001c0002t0001g0114 a0008c0011t0005g0117 a0009c0015t0001g0025 others(1): Show a0001c0002t0001g0114 a0008c0011t0005g0117 a0009c0015t0001g0025 a0014c0050t0009g0123	4	44	0.0909	32	c.908 others(53): Show c.9085-46305_9085-46304insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425708	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01934.hp1 HG02015.hp1 others(13): Show HG01192.hp1 HG01934.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02735.hp1 HG02922.hp1 HG03710.hp1 NA18612.hp1 NA18948.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18995.hp1 NA19000.hp1 NA19066.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0012 a0028 a0033	a0001c0001 a0001c0002 a0004c0004 others(9): Show a0001c0001 a0001c0002 a0004c0004 a0004c0012 a0004c0054 a0005c0007 a0006c0006 a0007c0018 a0007c0019 a0012c0033 a0028c0028 a0033c0049	a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 a0004c0012t0001 a0004c0054t0001 a0005c0007t0002 a0006c0006t0003 a0007c0018t0001 a0007c0019t0001 a0012c0033t0001 a0028c0028t0004 a0033c0049t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0002t0001g0100 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0114 a0004c0004t0001g0084 a0004c0012t0001g0064 a0004c0054t0001g0003 a0005c0007t0002g0089 a0006c0006t0003g0026 a0007c0018t0001g0061 a0007c0018t0001g0095 a0007c0019t0001g0058 a0012c0033t0001g0102 a0028c0028t0004g0024 a0033c0049t0001g0119	16	98	0.1633	32	c.908 others(53): Show c.9084+18772_9084+18773insCGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(25): Show CTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0089 a0005c0007t0002g0089	1	31	0.0323	32	c.821 others(53): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA GAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0022 a0022	a0022c0057 a0022c0057	a0022c0057t0015 a0022c0057t0015	a0022c0057t0015g0115 a0022c0057t0015g0115	1	31	0.0323	32	c.821 others(53): Show c.8218-14911_8218-14910insTATATATATATAGAGAGAGAGAGA GAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0016 a0016	a0016c0041 a0016c0041	a0016c0041t0001 a0016c0041t0001	a0016c0041t0001g0109 a0016c0041t0001g0109	1	31	0.0323	32	c.821 others(53): Show c.8218-14911_8218-14910insTATATATAGAGAGAGAGAGAGAGA GAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31628915	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0030 a0030	a0030c0047 a0030c0047	a0030c0047t0013 a0030c0047t0013	a0030c0047t0013g0005 a0030c0047t0013g0005	1	50	0.0200	32	c.802 others(51): Show c.8028-1054_8028-1053insATATATATATATATATATATATATAT ATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	54/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31951125	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0120 a0005c0007t0001g0120	1	125	0.0080	32	c.661 others(53): Show c.6614+17213_6614+17214insCATATATATATATATATATATATA TATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32298514	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0025 a0025	a0025c0026 a0025c0026	a0025c0026t0001 a0025c0026t0001	a0025c0026t0001g0126 a0025c0026t0001g0126	1	76	0.0132	32	c.611 others(53): Show c.6118-10814_6118-10813insATATATATATATATATATATATAT ATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0030 a0004c0012t0001g0030	1	28	0.0357	32	c.592 others(51): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32435275	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	43	0.0233	32	c.407 others(51): Show c.4071+2965_4071+2966insATATATATATATATATATATATATAT ATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02602.hp1 HG03017.hp1 others(5): Show HG02040.hp1 HG02602.hp1 HG03017.hp1 HG03486.hp2 HG03654.hp1 HG03688.hp1 NA18988.hp1 NA18995.hp1	a0001 a0004 a0015 others(2): Show a0001 a0004 a0015 a0027 a0033	a0001c0001 a0001c0002 a0001c0053 others(4): Show a0001c0001 a0001c0002 a0001c0053 a0004c0012 a0015c0017 a0027c0044 a0033c0049	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0053t0001 a0004c0012t0002 a0015c0017t0001 a0027c0044t0003 a0033c0049t0001	a0001c0001t0001g0050 a0001c0002t0001g0054 a0001c0002t0004g0110 others(5): Show a0001c0001t0001g0050 a0001c0002t0001g0054 a0001c0002t0004g0110 a0001c0053t0001g0096 a0004c0012t0002g0031 a0015c0017t0001g0104 a0027c0044t0003g0122 a0033c0049t0001g0119	8	63	0.1270	32	c.280 others(51): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT ATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0054 a0004c0054	a0004c0054t0001 a0004c0054t0001	a0004c0054t0001g0003 a0004c0054t0001g0003	1	2	0.5000	32	c.160 others(53): Show c.1602+10057_1602+10058insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32641409	T T	TATATATA others(25): Show TATATATATATAAATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0032 a0001c0021t0001g0032	1	126	0.0079	32	c.133 others(51): Show c.1331+2722_1331+2723insTTATATATATATATATATATTTATAT ATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	11/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32783199	C C	CATATACA others(25): Show CATATACACATATGTGTATATACGTGTATACGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01515.hp1 HG01074.hp1 HG01167.hp1 HG01515.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0001 a0001c0002t0002 a0002c0005t0001	a0001c0002t0002g0052 a0002c0005t0001g0037 a0002c0005t0001g0043 a0001c0002t0002g0052 a0002c0005t0001g0037 a0002c0005t0001g0043	3	126	0.0238	32	c.649 others(51): Show c.649+26262_649+26293dupACGTATACACGTATATACACATATGT GTATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32815520	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0077 a0002c0009t0001g0077	1	61	0.0164	32	c.530 others(47): Show c.530+947_530+948insGTGTGTGTGTGTGTATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	6/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879014	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0044 a0006c0006t0001g0044	1	119	0.0084	32	c.94- others(49): Show c.94-29195_94-29194insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009500	A A	ATATGTGT others(25): Show ATATGTGTATATACACATATGTGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01943.hp1 HG02055.hp1 others(5): Show HG01261.hp1 HG01943.hp1 HG02055.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02895.hp1 HG03098.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0010 a0022	a0002c0020 a0002c0023 a0002c0058 others(5): Show a0002c0020 a0002c0023 a0002c0058 a0003c0003 a0003c0008 a0005c0007 a0010c0014 a0022c0057	a0002c0020t0019 a0002c0023t0009 a0002c0058t0003 others(5): Show a0002c0020t0019 a0002c0023t0009 a0002c0058t0003 a0003c0003t0017 a0003c0008t0002 a0005c0007t0001 a0010c0014t0001 a0022c0057t0015	a0002c0020t0019g0006 a0002c0023t0009g0011 a0002c0058t0003g0051 others(5): Show a0002c0020t0019g0006 a0002c0023t0009g0011 a0002c0058t0003g0051 a0003c0003t0017g0087 a0003c0008t0002g0125 a0005c0007t0001g0073 a0010c0014t0001g0014 a0022c0057t0015g0115	8	109	0.0734	32	c.93+ others(49): Show c.93+10607_93+10638dupCACACATACACACATATGTGTATATACA CATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp1 HG02698.hp1 others(3): Show HG01256.hp1 HG01261.hp1 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG04199.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0009 a0010 a0011	a0001c0001 a0003c0003 a0006c0006 others(3): Show a0001c0001 a0003c0003 a0006c0006 a0009c0015 a0010c0014 a0011c0046	a0001c0001t0001 a0003c0003t0002 a0006c0006t0003 others(3): Show a0001c0001t0001 a0003c0003t0002 a0006c0006t0003 a0009c0015t0001 a0010c0014t0001 a0011c0046t0001	a0001c0001t0001g0050 a0003c0003t0002g0027 a0006c0006t0003g0026 others(3): Show a0001c0001t0001g0050 a0003c0003t0002g0027 a0006c0006t0003g0026 a0009c0015t0001g0025 a0010c0014t0001g0014 a0011c0046t0001g0053	6	19	0.3158	32	c.32- others(49): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108881	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0037 a0002c0005t0001g0037	1	126	0.0079	32	c.32- others(49): Show c.32-88682_32-88681insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33128766	A A	ACTGGACC others(25): Show ACTGGACCTATAAAGTTCCACCTGTGTGAAGAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0013 a0006c0006t0001g0013	1	126	0.0079	32	c.31+ others(49): Show c.31+82515_31+82516insCTCTTCACACAGGTGGAACTTTATAGGT CCAG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163618	C C	CTCTATCT others(25): Show CTCTATCTATCTATCTATCTATGTATCTATGTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG03195.hp1 others(1): Show HG02257.hp2 HG02895.hp1 HG03195.hp1 HG03486.hp2	a0002 a0003 a0026 others(1): Show a0002 a0003 a0026 a0027	a0002c0058 a0003c0008 a0026c0024 others(1): Show a0002c0058 a0003c0008 a0026c0024 a0027c0044	a0002c0058t0003 a0003c0008t0018 a0026c0024t0008 others(1): Show a0002c0058t0003 a0003c0008t0018 a0026c0024t0008 a0027c0044t0003	a0002c0058t0003g0051 a0003c0008t0018g0001 a0026c0024t0008g0105 others(1): Show a0002c0058t0003g0051 a0003c0008t0018g0001 a0026c0024t0008g0105 a0027c0044t0003g0122	4	106	0.0377	32	c.31+ others(49): Show c.31+47663_31+47664insTACATAGATACATAGATAGATAGATAGA TAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(25): Show CAGAGAGACAGAGAGACAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	152	0.0066	32	c.-13 others(43): Show c.-1381_-1380insAGAGAGACAGAGAGACAGAGAGAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMTF1_chr7_87147453_87201325	87148034	A A	AAGTTTGG others(25): Show AAGTTTGGCACAAAGATGCACTTATACTACTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01358.hp1 HG01433.hp1 others(18): Show HG00544.hp2 HG01358.hp1 HG01433.hp1 HG02080.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp1 HG03453.hp1 NA18522.hp1 NA18947.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18979.hp1 NA18984.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19057.hp1 NA19068.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0014 a0001c0003 a0005c0014	a0001c0003t0003 a0001c0003t0004 a0005c0014t0004 a0001c0003t0003 a0001c0003t0004 a0005c0014t0004	a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0018 others(7): Show a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0018 a0001c0003t0003g0024 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0004g0042 a0001c0003t0004g0045 a0001c0003t0004g0192 a0005c0014t0004g0191	21	360	0.0583	32	c.-46 others(43): Show c.-4653_-4652insAGTTTGGCACAAAGATGCACTTATACTACTAT	DMTF1	ENSG00000135164.19	transcript	ENST00000331242.12	protein_coding		4418		chr7	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG02970.hp1 others(1): Show HG00673.hp1 HG01069.hp1 HG02970.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0194 a0001c0002t0001g0036 a0001c0002t0004g0215 others(1): Show a0001c0001t0001g0194 a0001c0002t0001g0036 a0001c0002t0004g0215 a0002c0003t0001g0070	4	66	0.0606	32	c.668 others(51): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173797	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	234	0.0043	32	c.668 others(51): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATAAA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119202891	A A	ATATATAT others(25): Show ATATATATATATATATATTTATATTTATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0008 a0001c0004t0003g0008	1	230	0.0043	32	c.774 others(49): Show c.7746-413_7746-412insATTTATATTTATATATTTATATATATAT ATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	32/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATAGAGA others(25): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	149	0.0067	32	c.-18 others(43): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA19064.hp2 NA18959.hp2 NA19064.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0002	2	283	0.0071	32	c.-43 others(43): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55433941	A A	ATAATATT others(25): Show ATAATATTATAATATATATTTTATATAATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(26): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18972.hp2 NA18989.hp1 NA19030.hp1 NA19240.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0010 a0004c0005 others(1): Show a0001c0001 a0001c0010 a0004c0005 a0005c0004	a0001c0001t0001 a0001c0010t0001 a0004c0005t0003 others(2): Show a0001c0001t0001 a0001c0010t0001 a0004c0005t0003 a0005c0004t0003 a0005c0004t0005	a0001c0001t0001g0246 a0001c0010t0001g0225 a0004c0005t0003g0253 others(26): Show a0001c0001t0001g0246 a0001c0010t0001g0225 a0004c0005t0003g0253 a0004c0005t0003g0254 a0004c0005t0003g0255 a0005c0004t0003g0067 a0005c0004t0003g0257 a0005c0004t0003g0258 a0005c0004t0003g0259 a0005c0004t0003g0319 a0005c0004t0003g0320 a0005c0004t0003g0321 a0005c0004t0003g0322 a0005c0004t0003g0323 a0005c0004t0003g0324 a0005c0004t0003g0325 a0005c0004t0003g0326 a0005c0004t0003g0327 a0005c0004t0003g0328 a0005c0004t0003g0329 a0005c0004t0003g0330 a0005c0004t0003g0331 a0005c0004t0003g0332 a0005c0004t0003g0333 a0005c0004t0003g0334 a0005c0004t0003g0335 a0005c0004t0003g0336 a0005c0004t0003g0337 a0005c0004t0005g0256	29	85	0.3412	32	c.104 others(49): Show c.1047+963_1047+964insATATATTATATAAAATATATATTATAAT ATTA	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	8/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107204745	A A	ATTATTTA others(25): Show ATTATTTATTTAAATAAATTTTAAATAAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01081.hp2 HG01106.hp1 others(3): Show HG00423.hp1 HG01081.hp2 HG01106.hp1 NA18955.hp1 NA18971.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0077 a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0077	6	236	0.0254	32	c.-19 others(43): Show c.-1949_-1948insTTATTTATTTAAATAAATTTTAAATAAATTAT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1865		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204793	A A	ATTATTTA others(25): Show ATTATTTATTTAAATAAATTTTAAATAAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18906.hp2 HG02055.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0001t0001g0127 a0001c0001t0001g0151	2	245	0.0082	32	c.-19 others(43): Show c.-1901_-1900insTTATTTATTTAAATAAATTTTAAATAAATTAT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1817		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204869	A A	ATTATTTA others(25): Show ATTATTTATTTAAATAAATTTTAAATAAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	282	0.0035	32	c.-18 others(43): Show c.-1825_-1824insTTATTTATTTAAATAAATTTTAAATAAATTAT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1741		chrX	TogoVar
DNAH10_chr12_123757301_123940714	123911625	T T	TGGGGGGG others(25): Show TGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0132 a0001c0066t0001g0132	1	135	0.0074	32	c.101 others(51): Show c.10134+961_10134+962insGTCTGTCCTGGGGGGTCTGTCCTGGG GGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911734	G G	GGGGGTCT others(25): Show GGGGGTCTGTCCTGGGCGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0029 a0029	a0029c0070 a0029c0070	a0029c0070t0001 a0029c0070t0001	a0029c0070t0001g0152 a0029c0070t0001g0152	1	153	0.0065	32	c.101 others(53): Show c.10134+1066_10134+1067insTCTGTCCTGGGCGGGGGGGGTCTG TCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0026 a0026	a0026c0003 a0026c0003	a0026c0003t0001 a0026c0003t0001	a0026c0003t0001g0270 a0026c0003t0001g0271 a0026c0003t0001g0270 a0026c0003t0001g0271	2	48	0.0417	32	c.100 others(51): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(25): Show TCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0046 a0046	a0046c0129 a0046c0129	a0046c0129t0002 a0046c0129t0002	a0046c0129t0002g0074 a0046c0129t0002g0074	1	47	0.0213	32	c.100 others(51): Show c.10026+466_10026+467insCTTTCTTTTTTCTTTCTTTCTTTCTT TCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21901273	C C	CTAGCCTC others(25): Show CTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG02132.hp2 HG03486.hp1 others(4): Show HG00558.hp1 HG02132.hp2 HG03486.hp1 HG03942.hp1 HG04228.hp1 NA18959.hp2 NA18985.hp2	a0047 a0102 a0158 others(4): Show a0047 a0102 a0158 a0170 a0175 a0187 a0201	a0047c0105 a0102c0162 a0158c0046 others(4): Show a0047c0105 a0102c0162 a0158c0046 a0170c0147 a0175c0168 a0187c0230 a0201c0073	a0047c0105t0010 a0102c0162t0009 a0158c0046t0023 others(4): Show a0047c0105t0010 a0102c0162t0009 a0158c0046t0023 a0170c0147t0009 a0175c0168t0009 a0187c0230t0010 a0201c0073t0010	a0047c0105t0010g0024 a0102c0162t0009g0054 a0158c0046t0023g0120 others(4): Show a0047c0105t0010g0024 a0102c0162t0009g0054 a0158c0046t0023g0120 a0170c0147t0009g0273 a0175c0168t0009g0121 a0187c0230t0010g0203 a0201c0073t0010g0291	7	296	0.0236	32	c.20 others(39): Show c.20_*51dupTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	82/82	52	INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(25): Show ATATATATATATGTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0175 a0001c0026t0001g0175	1	99	0.0101	32	c.111 others(51): Show c.11190-629_11190-628insAAAAAAAAAAAAAAAAAATACATATA TATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03098.hp1 HG02622.hp2 HG02717.hp2 HG03098.hp1	a0016 a0024 a0016 a0024	a0016c0018 a0024c0057 a0016c0018 a0024c0057	a0016c0018t0001 a0024c0057t0002 a0016c0018t0001 a0024c0057t0002	a0016c0018t0001g0010 a0016c0018t0001g0058 a0024c0057t0002g0037 a0016c0018t0001g0010 a0016c0018t0001g0058 a0024c0057t0002g0037	3	149	0.0201	32	c.997 others(51): Show c.9978+1135_9978+1136insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACACTAT others(25): Show CACACTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0024 a0024	a0024c0057 a0024c0057	a0024c0057t0002 a0024c0057t0002	a0024c0057t0002g0037 a0024c0057t0002g0037	1	143	0.0070	32	c.936 others(51): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA TAGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACTATAT others(25): Show CACTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02717.hp2 others(3): Show HG02630.hp1 HG02647.hp1 HG02717.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp2	a0008 a0011 a0016 others(2): Show a0008 a0011 a0016 a0023 a0045	a0008c0016 a0011c0062 a0016c0018 others(3): Show a0008c0016 a0011c0062 a0016c0018 a0023c0074 a0023c0075 a0045c0048	a0008c0016t0001 a0011c0062t0001 a0016c0018t0001 others(3): Show a0008c0016t0001 a0011c0062t0001 a0016c0018t0001 a0023c0074t0002 a0023c0075t0002 a0045c0048t0001	a0008c0016t0001g0041 a0011c0062t0001g0103 a0016c0018t0001g0010 others(3): Show a0008c0016t0001g0041 a0011c0062t0001g0103 a0016c0018t0001g0010 a0023c0074t0002g0257 a0023c0075t0002g0256 a0045c0048t0001g0033	6	148	0.0405	32	c.936 others(51): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA TATAGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02055.hp2 HG02647.hp2 others(6): Show HG00733.hp2 HG02055.hp2 HG02647.hp2 HG02683.hp1 HG03492.hp1 HG04204.hp2 NA18943.hp1 NA19005.hp2 NA19007.hp1	a0004 a0007 a0019 others(2): Show a0004 a0007 a0019 a0022 a0061	a0004c0004 a0007c0007 a0019c0013 others(2): Show a0004c0004 a0007c0007 a0019c0013 a0022c0066 a0061c0071	a0004c0004t0001 a0007c0007t0001 a0019c0013t0001 others(2): Show a0004c0004t0001 a0007c0007t0001 a0019c0013t0001 a0022c0066t0001 a0061c0071t0001	a0004c0004t0001g0094 a0004c0004t0001g0100 a0004c0004t0001g0261 others(6): Show a0004c0004t0001g0094 a0004c0004t0001g0100 a0004c0004t0001g0261 a0007c0007t0001g0141 a0007c0007t0001g0190 a0007c0007t0001g0236 a0019c0013t0001g0102 a0022c0066t0001g0112 a0061c0071t0001g0070	9	142	0.0634	32	c.730 others(51): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02135.hp2 HG03239.hp2 HG02132.hp2 HG02135.hp2 HG03239.hp2	a0004 a0041 a0004 a0041	a0004c0004 a0041c0073 a0004c0004 a0041c0073	a0004c0004t0001 a0041c0073t0001 a0004c0004t0001 a0041c0073t0001	a0004c0004t0001g0099 a0004c0004t0001g0105 a0041c0073t0001g0075 a0004c0004t0001g0099 a0004c0004t0001g0105 a0041c0073t0001g0075	3	136	0.0221	32	c.730 others(51): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0107 a0004c0004t0001g0107	1	134	0.0075	32	c.730 others(51): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA CACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0050 a0050	a0050c0059 a0050c0059	a0050c0059t0001 a0050c0059t0001	a0050c0059t0001g0245 a0050c0059t0001g0245	1	134	0.0075	32	c.730 others(51): Show c.7305+2049_7305+2050insTATATATATATATATATACACACACA CACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389839	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03927.hp2 HG04199.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp1	a0019 a0054 a0055 a0019 a0054 a0055	a0019c0013 a0054c0068 a0055c0067 a0019c0013 a0054c0068 a0055c0067	a0019c0013t0001 a0054c0068t0001 a0055c0067t0001 a0019c0013t0001 a0054c0068t0001 a0055c0067t0001	a0019c0013t0001g0101 a0054c0068t0001g0091 a0055c0067t0001g0095 a0019c0013t0001g0101 a0054c0068t0001g0091 a0055c0067t0001g0095	3	157	0.0191	32	c.730 others(51): Show c.7305+2032_7305+2033insTTATATATATATATATATATATATAT ATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	82	0.0122	32	c.730 others(51): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT TTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

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