Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DEFA3_chr8_7010869_7023297	7012465	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01515.hp1 HG01257.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	430	0.0047	48	c.35 others(59): Show c.3524_*3525insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding		3403		chr8	TogoVar
DEFB124_chr20_31460471_31480127	31466618	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	362	0.0028	48	c.59- others(61): Show c.59-956_59-955insTTATATATATATATATATATATATATATATAT ATATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(106): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02040.hp2 HG02056.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18998.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 others(75): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0003c0002t0002g0117	109	362	0.3011	48	c.58+ others(63): Show c.58+2345_58+2346insTCAGCCCCCCGCCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02818.hp2 others(3): Show HG01891.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0122 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0122	6	362	0.0166	48	c.58+ others(63): Show c.58+2345_58+2346insTCAGCCCCCCACCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEGS2_chr14_100138957_100164645	100161561	G G	GGGATCCT others(41): Show GGGATCCTGGAGCAGAAAAAGGACATTAGGTAAAGCTAAGGAAAGCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0220 a0003c0004t0001g0220	1	440	0.0023	48	c.-19 others(59): Show c.-1975_-1974insTAGGCTTTCCTTAGCTTTACCTAATGTCCTTTTT CTGCTCCAGGATCC	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding		1917		chr14	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(41): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	162	0.0062	48	c.994 others(67): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123690052	A A	AGGAGGGA others(41): Show AGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	162	0.0062	48	c.303 others(67): Show c.303-13264_303-13263insCTCCCTCCTTTCCTTCTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711486	A A	AAAATATA others(41): Show AAAATATATATATATATGTATATATGTATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	162	0.0062	48	c.303 others(67): Show c.303-34698_303-34697insATACATATATATATATATATATACAT ATATACATATATATATATATTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197770820	G G	GTAAATGT others(41): Show GTAAATGTATATCTATAAATATATATAAATATATATCTATAAATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18945.hp2 NA19006.hp1 others(1): Show NA18612.hp1 NA18945.hp2 NA19006.hp1 NA19072.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0004 a0002c0004t0010g0005 a0002c0004t0010g0006 others(1): Show a0002c0004t0010g0004 a0002c0004t0010g0005 a0002c0004t0010g0006 a0002c0004t0010g0007	4	280	0.0143	48	c.82+ others(63): Show c.82+2047_82+2048insTATATATTTATAGATATATATTTATATATA TTTATAGATATACATTTA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	2/22			chr1	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0205 a0001c0002t0025g0205	1	304	0.0033	48	c.158 others(67): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATATATATATATATATATA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(41): Show GGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	326	0.0031	48	c.43 others(59): Show c.4365_*4366insTTCCCCCTCCCCCCTCTTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307775	A A	AGGGGGGA others(41): Show AGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0241 a0001c0003t0016g0241	1	326	0.0031	48	c.43 others(59): Show c.4363_*4364insCTCTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1254		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307831	G G	GAAGAGGG others(41): Show GAAGAGGGGGAGGGGGGGAGAGGGGGAGGGGGGGAGAGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	326	0.0031	48	c.43 others(59): Show c.4307_*4308insTCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCC CCCCTCCCCCTCTT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1198		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316980	C C	CGGGGGGG others(41): Show CGGGGGGGGCCACGAGGACAGGGTGGGGGGGGGGCGGCGAGGACAGGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0274 a0003c0007t0013g0274	1	326	0.0031	48	c.453 others(63): Show c.453+312_453+313insATCCTGTCCTCGCCGCCCCCCCCCCACCCT GTCCTCGTGGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGGTGG others(41): Show CAGGGTGGGGGGGCGGCGAGGACAGGGCGGGGGGCCCCGAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0009 a0002c0002t0032g0009	1	326	0.0031	48	c.453 others(63): Show c.453+272_453+273insACCCTGTCCTCGGGGCCCCCCGCCCTGTCC TCGCCGCCCCCCCACCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DEPDC1B_chr5_60591912_60705166	60667912	T T	TGTAAAAA others(41): Show TGTAAAAAATGGATATTTTATATATTAAAAAATGGATATTTTATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	292	0.0034	48	c.314 others(67): Show c.314+19049_314+19050insTATATATAAAATATCCATTTTTTAAT ATATAAAATATCCATTTTTTAC	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60667991	T T	TTATATAT others(41): Show TTATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02818.hp2 HG03453.hp2 HG02135.hp1 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0129 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0001g0129 a0001c0001t0002g0075 a0001c0001t0002g0077	3	292	0.0103	48	c.314 others(67): Show c.314+18923_314+18970dupTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60699443	G G	GAAAAAAA others(41): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	292	0.0034	48	c.48+ others(61): Show c.48+602_48+603insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	1/10			chr5	TogoVar
DEPTOR_chr8_119868722_120055918	119887143	T T	TCCCCTCC others(41): Show TCCCCTCCCCCCCCTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0196 a0004c0006t0009g0196	1	198	0.0051	48	c.122 others(67): Show c.122+13177_122+13178insCCTCCCCCCCCTCCTCCCCTCCCCTC CCCCCCTCCTCCCCTCCTCCCC	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119887143	T T	TCCCCTCC others(41): Show TCCCCTCCCCCCCTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0195 a0004c0006t0009g0195	1	198	0.0051	48	c.122 others(67): Show c.122+13177_122+13178insCCTCCCCCCCTCCTCCCCTCCCCTCC CCCCCCTCCTCCCCTCCTCCCC	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119887145	C C	CCCTCCCC others(41): Show CCCTCCCCCCCTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0192 a0003c0008t0002g0192	1	198	0.0051	48	c.122 others(67): Show c.122+13177_122+13178insCCTCCCCCCCTCCTCCCCTCCCCTCC CCCCCTCCTCCCCTCCTCCCCT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8			chr8	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(41): Show GGGTGGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG02027.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0122 a0001c0001t0001g0125	2	308	0.0065	48	c.67 others(59): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCACCCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(41): Show GGGTGGGGGGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0005 a0001c0001t0001g0039	2	308	0.0065	48	c.67 others(59): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(41): Show TGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	308	0.0033	48	c.67 others(59): Show c.6758_*6759insCACCGCCTCCCCCACCCCCCCACCGCCCCCCCAC CCCCCCACCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313736	G G	GCCTCCCC others(41): Show GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	48	c.28 others(59): Show c.2817_*2818insGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		847		chr8	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(41): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	48	c.-28 others(59): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCACAC ACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14461324	T T	TTTTTTTT others(41): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0064 a0001c0002t0009g0064	1	148	0.0068	48	c.183 others(69): Show c.1835+16836_1835+16837insGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186299767	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19043.hp1 HG02895.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0003 a0001c0018t0008 a0001c0002t0003 a0001c0018t0008	a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0018t0008g0218 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0018t0008g0218	3	234	0.0128	48	c.145 others(65): Show c.145-1539_145-1538insAAGAAGGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0176 a0006c0010t0001g0176	1	336	0.0030	48	c.118 others(65): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(41): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	147	0.0068	48	c.132 others(65): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129122	T T	TTTTCTTT others(41): Show TTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	147	0.0068	48	c.259 others(69): Show c.2590-12531_2590-12530insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185399	A A	ATATATGT others(41): Show ATATATGTGTGTATATATATATGTATATATATATGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	147	0.0068	48	c.271 others(69): Show c.2719+43610_2719+43611insGTGTGTATATATATATGTATATAT ATATGTATATATATATGTGTATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570111	T T	TATATATA others(41): Show TATATATATAATATATATAATATATATAATTCTTCTAATATATATAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0056 a0001c0001t0006g0056	1	147	0.0068	48	c.324 others(69): Show c.3242-29133_3242-29132insATATATATAATATATATAATTCTT CTAATATATATAATAATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875350	T T	TCACCCCC others(41): Show TCACCCCCACCCCCACCCCCACCCCCACCCTCACCCGCACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0122 a0006c0008t0005g0122	1	320	0.0031	48	c.38 others(59): Show c.3882_*3883insGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGG TGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2392		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875350	T T	TCACCCCC others(41): Show TCACCCCCACCCGCACCCCCACCCTCACCCGCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0002 a0017c0049t0002	a0017c0049t0002g0125 a0017c0049t0002g0125	1	320	0.0031	48	c.38 others(59): Show c.3882_*3883insGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGG TGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2392		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593819	C C	CCCCCTCC others(41): Show CCCCCTCCCCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCCCGTCCCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0063 a0001c0003t0002g0063	1	284	0.0035	48	c.101 others(67): Show c.101-32154_101-32153insCTCCCCTCCCCTCCCCTCCCCTGTCC CCTCCCCTCCCGTCCCCTTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593819	C C	CCCCTCCC others(41): Show CCCCTCCCCTCCCCCTCCCCTCCCCTGTCCCCTCCCCTCCCGTCCCCTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0071	1	284	0.0035	48	c.101 others(67): Show c.101-32145_101-32144insCCTCCCCTCCCCTGTCCCCTCCCCTC CCGTCCCCTTCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	347206	G G	GCACCCAA others(41): Show GCACCCAACCCACACACATCGTGCACAGTTCTCCCGGAAACCCCACACT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	48	c.323 others(67): Show c.3231+1434_3231+1435insAGTGTGGGGTTTCCGGGAGAACTGTG CACGATGTGTGTGGGTTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	347227	T T	TGCACAGT others(41): Show TGCACAGTTCTCCCGGAAACCCCACACTCACCCAACCCAGACACATCGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp2 HG01258.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0012 a0001c0001t0001g0051 a0001c0001t0003g0012	2	88	0.0227	48	c.323 others(67): Show c.3231+1413_3231+1414insGCGATGTGTCTGGGTTGGGTGAGTGT GGGGTTTCCGGGAGAACTGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	358773	G G	GTGGGAGG others(41): Show GTGGGAGGTGGGGGACGGGGGTGGGAGGTGGGGGACGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	88	0.0114	48	c.279 others(65): Show c.2795-837_2795-836insTCCCCCGTCCCCCGTCCCCCACCTCCCA CCCCCGTCCCCCACCTCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478371	G G	GGGGAGAG others(41): Show GGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02280.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0003 a0001c0001t0001 a0001c0009t0003	a0001c0001t0001g0008 a0001c0009t0003g0003 a0001c0001t0001g0008 a0001c0009t0003g0003	2	88	0.0227	48	c.158 others(65): Show c.158-5823_158-5822insTGCCCCGCCCTGCCCCGCCCCGCCCCTC TCCTTCTCTCCTCCTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608527	C C	CCCCCACA others(41): Show CCCCCACACACACACACCCCCCCACACACACACACACCCCCCCCACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	88	0.0114	48	c.85+ others(65): Show c.85+80966_85+80967insTGTGTGGGGGGGGTGTGTGTGTGTGTGG GGGGGTGTGTGTGTGTGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846848	T T	TATACACA others(41): Show TATACACACACGTATATATATATATACACACACGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	200	0.0050	48	c.474 others(63): Show c.474+334_474+335insGTATATATATATATACGTGTGTGTATATAT ATATATACGTGTGTGTAT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01516.hp1 HG03017.hp1 HG01081.hp2 HG01516.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0146 a0001c0003t0004g0161 a0001c0003t0004g0170 a0001c0003t0004g0146 a0001c0003t0004g0161 a0001c0003t0004g0170	3	400	0.0075	48	c.558 others(63): Show c.558+251_558+252insAAAAAAAAAAAATATATATATATATATATA TATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAATA others(41): Show AAAAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0005 a0010c0014t0005	a0010c0014t0005g0324 a0010c0014t0005g0324	1	400	0.0025	48	c.558 others(63): Show c.558+251_558+252insAAAATATATATATATATATATATATATATA TATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISC1_chr1_231621790_232046272	231733094	T T	TAGTGGTT others(41): Show TAGTGGTTATAGGAGTGGTGGTGGTTATGGTAGGAGTGGTGGTTGTAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG02155.hp1 others(6): Show HG00639.hp2 HG01496.hp1 HG02155.hp1 HG02273.hp1 HG03130.hp1 HG04115.hp2 NA18983.hp1 NA19000.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0012 a0002c0003 a0002c0004 others(3): Show a0001c0012 a0002c0003 a0002c0004 a0002c0009 a0004c0013 a0006c0010	a0001c0012t0017 a0002c0003t0007 a0002c0004t0001 others(5): Show a0001c0012t0017 a0002c0003t0007 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0009t0001 a0004c0013t0002 a0006c0010t0003	a0001c0012t0017g0039 a0002c0003t0007g0010 a0002c0004t0001g0003 others(6): Show a0001c0012t0017g0039 a0002c0003t0007g0010 a0002c0004t0001g0003 a0002c0004t0003g0026 a0002c0004t0003g0028 a0002c0004t0004g0004 a0002c0009t0001g0006 a0004c0013t0002g0030 a0006c0010t0003g0027	9	40	0.2250	48	c.111 others(69): Show c.1118-16830_1118-16829insTGGTTATAGGAGTGGTGGTGGTTA TGGTAGGAGTGGTGGTTGTAGCAG	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0070 a0001c0003t0070	a0001c0003t0070g0003 a0001c0003t0070g0003	1	396	0.0025	48	c.36 others(59): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG02027.hp1 NA19063.hp2 HG01981.hp1 HG02027.hp1 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0078 a0001c0003t0032 a0001c0003t0078	a0001c0003t0032g0003 a0001c0003t0032g0013 a0001c0003t0078g0003 a0001c0003t0032g0003 a0001c0003t0032g0013 a0001c0003t0078g0003	3	396	0.0076	48	c.36 others(59): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0084 a0001c0003t0084	a0001c0003t0084g0003 a0001c0003t0084g0003	1	396	0.0025	48	c.36 others(59): Show c.3697_*3698insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLG1_chr3_197037560_197303612	197046181	C C	CAGAGCAT others(41): Show CAGAGCATTTCATAGTTTAGGTTGACAACAGCACGCAAGGATTTATTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0111 a0001c0003t0019g0111	1	332	0.0030	48	c.257 others(67): Show c.2576-1500_2576-1453dupAAAATAAATCCTTGCGTGCTGTTGTC AACCTAAACTATGAAATGCTCT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	24/24			chr3	TogoVar

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