Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
DEFB123_chr20_31435632_31455257	31450550	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	372	0.0027	-28	c.37 others(37): Show c.377_*404delTATATATATATATATATATATTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		294		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450554	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01978.hp2 HG01981.hp1 others(9): Show HG01175.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02559.hp2 HG03831.hp1 NA18955.hp1 NA19011.hp2 NA19060.hp1 NA19077.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0097	12	372	0.0323	-28	c.38 others(37): Show c.381_*408delTATATATATATATATATTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		298		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450556	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00735.hp2 others(12): Show HG00140.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01243.hp1 HG02071.hp1 HG02083.hp1 NA18950.hp1 NA18962.hp1 NA18965.hp2 NA18975.hp2 NA18977.hp2 NA19000.hp1 NA19065.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0081	15	372	0.0403	-28	c.38 others(37): Show c.383_*410delTATATATATATATATTTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		300		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450562	ATATATAT others(21): Show ATATATATATTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02523.hp2 HG03669.hp1 HG01433.hp1 HG02523.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0152 a0001c0001t0002g0010 a0001c0001t0002g0152	3	372	0.0081	-28	c.38 others(37): Show c.389_*416delTATATATATTTTTTTTTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		306		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31472418	AGGGAGAG others(21): Show AGGGAGAGGGGAGAGGGGAGAAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	362	0.0028	-28	c.58+ others(41): Show c.58+510_58+537delCTCTCCCTTCTCCCCTCTCCCCTCTCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001858	TTCTTTTT others(21): Show TTCTTTTTCTTTCTTTCTTTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02004.hp1 HG03704.hp2 others(2): Show HG01109.hp2 HG02004.hp1 HG03704.hp2 NA19070.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	5	448	0.0112	-28	c.-12 others(39): Show c.-1226_-1199delGAGAGAGAGAAAGAAAGAAAGAAAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1107		chr8	TogoVar
DEFB134_chr8_11988174_12005752	12001872	TTCTTTCT others(21): Show TTCTTTCTCTCTCTCTTTCTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG03209.hp2 HG03579.hp2 HG02897.hp2 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0007 a0001c0001t0004 a0001c0002t0007	a0001c0001t0004g0036 a0001c0001t0004g0051 a0001c0002t0007g0031 a0001c0001t0004g0036 a0001c0001t0004g0051 a0001c0002t0007g0031	3	448	0.0067	-28	c.-12 others(39): Show c.-1240_-1213delGAAAGAAAAAGAAAGAGAGAGAGAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1121		chr8	TogoVar
DEGS2_chr14_100138957_100164645	100142244	AAGGTCTA others(21): Show AAGGTCTACAGAAGCACCTTCCAGGCTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03041.hp1 HG03098.hp1 others(1): Show HG02647.hp1 HG03041.hp1 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0024 a0001c0001t0025 a0001c0008t0001 a0001c0001t0024 a0001c0001t0025 a0001c0008t0001	a0001c0001t0024g0177 a0001c0001t0025g0178 a0001c0008t0001g0164 others(1): Show a0001c0001t0024g0177 a0001c0001t0025g0178 a0001c0008t0001g0164 a0001c0008t0001g0173	4	440	0.0091	-28	c.44 others(39): Show c.4489_*4516delCAAGCCTGGAAGGTGCTTCTGTAGACCT	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding		1712		chr14	TogoVar
DENND1A_chr9_123374658_123935126	123485636	GTACACAC others(21): Show GTACACACACGCGCGCGCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp1 others(13): Show HG01243.hp1 HG01891.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0012 a0001c0001 a0001c0008 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0008t0007 a0001c0012t0007	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0051 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0116 a0001c0001t0001g0144 a0001c0001t0004g0080 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0115 a0001c0001t0019g0114 a0001c0008t0007g0093 a0001c0012t0007g0113 a0001c0012t0007g0141	16	162	0.0988	-28	c.994 others(47): Show c.994-27767_994-27740delTGTGTGTGCGCGCGCGCGCGTGTGTG TA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1C_chr19_6462207_6486787	6480557	CCCACCTA others(21): Show CCCACCTATCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	420	0.0024	-28	c.18- others(41): Show c.18-534_18-507delATAGATAGATAGATAGATAGATAGGTGG	DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding	1/22			chr19	TogoVar
DENND3_chr8_141123589_141200804	141145803	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0066 a0003c0066	a0003c0066t0001 a0003c0066t0001	a0003c0066t0001g0092 a0003c0066t0001g0092	1	390	0.0026	-28	c.735 others(45): Show c.735+1564_735+1591delATATATATATATATATATATATATATAT	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
DENND4C_chr9_19225693_19379281	19319379	TACATATA others(21): Show TACATATATATATACATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02572.hp2 others(1): Show HG01516.hp1 HG01517.hp1 HG02572.hp2 NA18990.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0021 a0001c0001 a0015c0021	a0001c0001t0001 a0001c0001t0019 a0015c0021t0035 a0001c0001t0001 a0001c0001t0019 a0015c0021t0035	a0001c0001t0001g0199 a0001c0001t0019g0280 a0001c0001t0019g0282 others(1): Show a0001c0001t0001g0199 a0001c0001t0019g0280 a0001c0001t0019g0282 a0015c0021t0035g0256	4	292	0.0137	-28	c.180 others(47): Show c.1807+2594_1807+2621delCACACATATATATATACATATATATA TA	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND5B_chr12_31377226_31596136	31494161	TATCTATC others(21): Show TATCTATCTATCTATCTATCTATCCATCC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	308	0.0033	-28	c.237 others(45): Show c.237+1621_237+1648delGGATGGATAGATAGATAGATAGATAGAT	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	2/20			chr12	TogoVar
DENND5B_chr12_31377226_31596136	31587526	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG03209.hp1 others(3): Show HG02486.hp2 HG02615.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 others(3): Show a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032	6	308	0.0195	-28	c.127 others(45): Show c.127+3152_127+3179delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20			chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60667708	TAAAATGG others(21): Show TAAAATGGATATTTTACATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01167.hp2 others(28): Show HG00642.hp2 HG00673.hp2 HG01167.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp2 NA18522.hp2 NA18954.hp2 NA18981.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0005 a0001c0001 a0001c0003 a0005c0005	a0001c0001t0001 a0001c0003t0001 a0005c0005t0001 a0001c0001t0001 a0001c0003t0001 a0005c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0144 a0001c0001t0001g0145 others(27): Show a0001c0001t0001g0004 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0003t0001g0158 a0001c0003t0001g0159 a0005c0005t0001g0146	31	292	0.1062	-28	c.314 others(47): Show c.314+19226_314+19253delTTTTATATATATGTAAAATATCCATT TT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31771715	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18968.hp1 NA18947.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0097 a0001c0001t0004g0099 a0001c0001t0001g0097 a0001c0001t0004g0099	2	204	0.0098	-28	c.413 others(45): Show c.413+2891_413+2918delCACACACACACACACACACACACACACA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	7/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119991088	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0098 a0001c0002t0003g0098	1	198	0.0051	-28	c.605 others(47): Show c.605-10433_605-10406delCTTTCTTTCTTTCTTTCTTTCTTTCT TT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEUP1_chr11_93325742_93443470	93378661	ATTACCAG others(21): Show ATTACCAGAATTGTTTTTCTGGTTCCTTC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp2 HG02622.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0005 a0001c0014t0006 a0001c0001t0005 a0001c0014t0006	a0001c0001t0005g0041 a0001c0014t0006g0273 a0001c0001t0005g0041 a0001c0014t0006g0273	2	368	0.0054	-28	c.790 others(45): Show c.790-6733_790-6706delCCAGAATTGTTTTTCTGGTTCCTTCTTA	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DGKB_chr7_14140049_14907751	14170145	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02071.hp1 NA18612.hp1 others(2): Show HG00597.hp2 HG02071.hp1 NA18612.hp1 NA18968.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0005 others(1): Show a0001c0001 a0001c0008 a0002c0005 a0002c0007	a0001c0001t0020 a0001c0008t0003 a0002c0005t0006 others(1): Show a0001c0001t0020 a0001c0008t0003 a0002c0005t0006 a0002c0007t0006	a0001c0001t0020g0097 a0001c0008t0003g0078 a0002c0005t0006g0139 others(2): Show a0001c0001t0020g0097 a0001c0008t0003g0078 a0002c0005t0006g0139 a0002c0007t0006g0030 a0002c0007t0006g0041	5	148	0.0338	-28	c.230 others(47): Show c.2304+6666_2304+6693delCTTTCTTTCTTTCTTTCTTTCTTTCT TT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	25/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14260087	TACACACA others(21): Show TACACACACACACACACACATGAACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00621.hp2 others(31): Show HG00280.hp2 HG00558.hp2 HG00621.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02258.hp1 HG02486.hp2 HG02630.hp1 HG02735.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 NA18951.hp1 NA18968.hp1 NA18988.hp1 NA19002.hp1 NA19002.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0015 a0003c0010 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0042 a0001c0003t0001 a0001c0003t0005 a0001c0003t0018 a0001c0003t0035 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0006t0008 a0001c0008t0003 a0001c0012t0003 a0001c0015t0032 a0003c0010t0033 a0004c0011t0002	a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0001g0141 others(31): Show a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0003g0051 a0001c0001t0016g0042 a0001c0001t0021g0029 a0001c0001t0028g0095 a0001c0002t0001g0096 a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0003g0055 a0001c0002t0003g0135 a0001c0002t0004g0088 a0001c0002t0042g0148 a0001c0003t0001g0054 a0001c0003t0005g0057 a0001c0003t0018g0061 a0001c0003t0035g0126 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0127 a0001c0004t0002g0133 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0006t0008g0080 a0001c0008t0003g0077 a0001c0012t0003g0015 a0001c0015t0032g0019 a0003c0010t0033g0007 a0004c0011t0002g0110	34	148	0.2297	-28	c.212 others(49): Show c.2122+78400_2122+78427delGTGTGTTCATGTGTGTGTGTGTGT GTGT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14769070	TAAGAAAG others(21): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp1 HG02970.hp1 others(2): Show HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0017 a0001c0002 a0001c0006 a0001c0017	a0001c0002t0003 a0001c0002t0034 a0001c0006t0004 others(2): Show a0001c0002t0003 a0001c0002t0034 a0001c0006t0004 a0001c0006t0019 a0001c0017t0024	a0001c0002t0003g0135 a0001c0002t0034g0014 a0001c0006t0004g0145 others(2): Show a0001c0002t0003g0135 a0001c0002t0034g0014 a0001c0006t0004g0145 a0001c0006t0019g0144 a0001c0017t0024g0146	5	148	0.0338	-28	c.71- others(45): Show c.71-11367_71-11340delTCTTTCTTTCTTTCTTTCTTTCTTTCTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14769099	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02486.hp1 HG02630.hp1 others(5): Show HG00609.hp2 HG02486.hp1 HG02630.hp1 HG02897.hp2 HG03209.hp1 NA18612.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0029 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0029 a0001c0003t0005 a0001c0003t0035 a0001c0004t0027	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0002t0001g0017 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0002t0001g0017 a0001c0002t0029g0002 a0001c0003t0005g0016 a0001c0003t0005g0124 a0001c0003t0035g0126 a0001c0004t0027g0059	8	148	0.0541	-28	c.71- others(45): Show c.71-11396_71-11369delCTCTTTCTTTCTTTCTTTCTTTCTTTCT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233438736	TATTTATC others(21): Show TATTTATCTGTCTATCTATCATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0174 a0001c0002t0025g0174	1	336	0.0030	-28	c.108 others(45): Show c.1085+358_1085+385delATTTATCTGTCTATCTATCATCTATCTA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	9/29			chr2	TogoVar
DGKG_chr3_186142201_186367234	186302486	ATATATAT others(21): Show ATATATATATATATATATATACATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0217 a0002c0001t0003g0217	1	234	0.0043	-28	c.145 others(45): Show c.145-4285_145-4258delCACATATGTATATATATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18906.hp2 HG00741.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0020 a0001c0001t0002 a0001c0004t0020	a0001c0001t0002g0257 a0001c0004t0020g0288 a0001c0001t0002g0257 a0001c0004t0020g0288	2	316	0.0063	-28	c.260 others(47): Show c.2601+1024_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTCCT TC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137638604	ATATATAT others(21): Show ATATATATACACACACACATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0054 a0001c0008t0018g0054	1	94	0.0106	-28	c.804 others(45): Show c.804+6840_804+6867delCACATATATATGTGTGTGTGTATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137788637	CACACACA others(21): Show CACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01884.hp1 others(26): Show HG00642.hp2 HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG04204.hp1 NA18522.hp2 NA18979.hp2 NA18992.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0002c0020	a0001c0001t0017 a0001c0001t0032 a0001c0001t0036 others(26): Show a0001c0001t0017 a0001c0001t0032 a0001c0001t0036 a0001c0002t0028 a0001c0003t0004 a0001c0003t0006 a0001c0003t0023 a0001c0003t0037 a0001c0004t0003 a0001c0004t0011 a0001c0004t0038 a0001c0004t0047 a0001c0006t0002 a0001c0006t0008 a0001c0007t0003 a0001c0007t0005 a0001c0007t0041 a0001c0007t0048 a0001c0008t0015 a0001c0009t0040 a0001c0009t0043 a0001c0009t0050 a0001c0010t0012 a0001c0013t0003 a0001c0013t0039 a0001c0015t0027 a0001c0017t0049 a0001c0019t0005 a0002c0020t0001	a0001c0001t0017g0001 a0001c0001t0032g0038 a0001c0001t0036g0004 others(26): Show a0001c0001t0017g0001 a0001c0001t0032g0038 a0001c0001t0036g0004 a0001c0002t0028g0039 a0001c0003t0004g0023 a0001c0003t0006g0014 a0001c0003t0023g0061 a0001c0003t0037g0036 a0001c0004t0003g0076 a0001c0004t0011g0071 a0001c0004t0038g0069 a0001c0004t0047g0067 a0001c0006t0002g0015 a0001c0006t0008g0030 a0001c0007t0003g0088 a0001c0007t0005g0066 a0001c0007t0041g0073 a0001c0007t0048g0081 a0001c0008t0015g0055 a0001c0009t0040g0086 a0001c0009t0043g0082 a0001c0009t0050g0080 a0001c0010t0012g0047 a0001c0013t0003g0075 a0001c0013t0039g0068 a0001c0015t0027g0033 a0001c0017t0049g0083 a0001c0019t0005g0090 a0002c0020t0001g0017	29	94	0.3085	-28	c.401 others(47): Show c.401+57797_401+57824delATGTGTGTGTGTGTGTGTGTGTGTGT GT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKK_chrX_50360409_50475825	50447329	TATATATA others(21): Show TATATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18972.hp2 NA19004.hp1 HG00741.hp1 NA18972.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0083 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0083	3	248	0.0121	-28	c.645 others(47): Show c.645+22677_645+22704delTATATATATATATAATATATATATAT AT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DGLUCY_chr14_91109073_91230632	91184633	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG02280.hp2 others(2): Show HG01192.hp2 HG02055.hp1 HG02280.hp2 HG02922.hp1 HG03516.hp1	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0002 a0005c0015 a0015c0026 a0002c0002 a0005c0015 a0015c0026	a0002c0002t0001 a0005c0015t0001 a0015c0026t0015 a0002c0002t0001 a0005c0015t0001 a0015c0026t0015	a0002c0002t0001g0142 a0002c0002t0001g0187 a0005c0015t0001g0189 others(2): Show a0002c0002t0001g0142 a0002c0002t0001g0187 a0005c0015t0001g0189 a0005c0015t0001g0202 a0015c0026t0015g0038	5	216	0.0232	-28	c.934 others(45): Show c.934+3262_934+3289delGGGAGGGAAGGAGGGAGGGAGGGAGGGA	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHODH_chr16_72003744_72032659	72020321	GTATATGT others(21): Show GTATATGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0217 a0001c0001t0014g0217	1	414	0.0024	-28	c.518 others(43): Show c.518-779_518-752delATATATATATGTGTATATATATATATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHODH_chr16_72003744_72032659	72026959	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG02738.hp1 HG04228.hp2 HG01255.hp2 HG02738.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0110 a0002c0002t0026g0128 a0002c0002t0026g0129 a0002c0002t0026g0110 a0002c0002t0026g0128 a0002c0002t0026g0129	3	414	0.0073	-28	c.27 others(39): Show c.2784_*2811delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	9/9	2784	INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRS9_chr2_169064563_169101167	169079983	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02809.hp1 NA18960.hp1 others(2): Show HG02293.hp2 HG02809.hp1 NA18960.hp1 NA18966.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0070 a0001c0002t0002g0072 others(2): Show a0001c0002t0002g0062 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0181	5	398	0.0126	-28	c.-59 others(45): Show c.-59-1498_-59-1471delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2303872	GATGGGTG others(21): Show GATGGGTGGATGGATGGATGGATGGATAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02486.hp2 others(2): Show HG01261.hp1 HG02055.hp1 HG02486.hp2 HG02630.hp1 HG02922.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0005 a0005c0008 others(1): Show a0001c0001 a0002c0005 a0005c0008 a0007c0009	a0001c0001t0001 a0002c0005t0004 a0002c0005t0008 others(2): Show a0001c0001t0001 a0002c0005t0004 a0002c0005t0008 a0005c0008t0006 a0007c0009t0013	a0001c0001t0001g0026 a0002c0005t0004g0004 a0002c0005t0008g0010 others(2): Show a0001c0001t0001g0026 a0002c0005t0004g0004 a0002c0005t0008g0010 a0005c0008t0006g0001 a0007c0009t0013g0005	5	50	0.1000	-28	c.287 others(47): Show c.287-12297_287-12270delTTATCCATCCATCCATCCATCCACCC AT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2330119	AGAGACAG others(21): Show AGAGACAGAGAGAAAGGAAGGAGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02486.hp2 others(2): Show HG01261.hp1 HG02055.hp1 HG02486.hp2 HG02886.hp1 HG02922.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0002c0005 a0005c0008 others(2): Show a0001c0001 a0002c0005 a0005c0008 a0006c0013 a0007c0009	a0001c0001t0001 a0002c0005t0004 a0005c0008t0006 others(2): Show a0001c0001t0001 a0002c0005t0004 a0005c0008t0006 a0006c0013t0015 a0007c0009t0013	a0001c0001t0001g0026 a0002c0005t0004g0004 a0005c0008t0006g0001 others(2): Show a0001c0001t0001g0026 a0002c0005t0004g0004 a0005c0008t0006g0001 a0006c0013t0015g0011 a0007c0009t0013g0005	5	50	0.1000	-28	c.287 others(47): Show c.287-38544_287-38517delCTCCTCCTCCTTCCTTTCTCTCTGTC TC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12072461	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(137): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(4): Show a0000 a0001 a0002 a0003 a0007 a0014 a0016	a0000c0016 a0001c0001 a0001c0006 others(7): Show a0000c0016 a0001c0001 a0001c0006 a0001c0010 a0001c0017 a0002c0002 a0003c0003 a0007c0030 a0014c0026 a0016c0028	a0000c0016t0021 a0001c0001t0001 a0001c0001t0002 others(23): Show a0000c0016t0021 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0006t0001 a0001c0010t0002 a0001c0017t0009 a0002c0002t0002 a0003c0003t0003 a0003c0003t0007 a0007c0030t0002 a0014c0026t0001 a0016c0028t0001	a0000c0016t0021g0265 a0001c0001t0001g0002 a0001c0001t0001g0106 others(136): Show a0000c0016t0021g0265 a0001c0001t0001g0002 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0168 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0352 a0001c0001t0001g0361 a0001c0001t0002g0123 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0264 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0003g0313 a0001c0001t0003g0328 a0001c0001t0004g0105 a0001c0001t0004g0120 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0004g0251 a0001c0001t0004g0256 a0001c0001t0004g0262 a0001c0001t0004g0294 a0001c0001t0004g0305 a0001c0001t0004g0308 a0001c0001t0004g0340 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0360 a0001c0001t0004g0370 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0281 a0001c0001t0005g0287 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0295 a0001c0001t0005g0298 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0359 a0001c0001t0008g0127 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0141 a0001c0001t0009g0285 a0001c0001t0009g0289 a0001c0001t0010g0362 a0001c0001t0012g0343 a0001c0001t0014g0133 a0001c0001t0014g0134 a0001c0001t0014g0135 a0001c0001t0018g0357 a0001c0001t0022g0267 a0001c0001t0024g0154 a0001c0001t0037g0301 a0001c0001t0038g0286 a0001c0001t0040g0276 a0001c0006t0001g0255 a0001c0006t0001g0261 a0001c0006t0001g0268 a0001c0006t0001g0327 a0001c0006t0001g0354 a0001c0006t0001g0355 a0001c0010t0002g0299 a0001c0017t0009g0356 a0002c0002t0002g0032 a0002c0002t0002g0073 a0002c0002t0002g0077 a0002c0002t0002g0110 a0002c0002t0002g0150 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0329 a0003c0003t0003g0353 a0003c0003t0007g0218 a0003c0003t0007g0273 a0007c0030t0002g0254 a0014c0026t0001g0225 a0016c0028t0001g0314	140	374	0.3743	-28	c.154 others(45): Show c.154+3291_154+3318delAATAAATAAATAAATAAATAAATAAATA	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHX34_chr19_47344315_47387704	47384325	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	382	0.0026	-28	c.22 others(39): Show c.2213_*2240delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding		1622		chr19	TogoVar
DHX36_chr3_154267546_154329487	154312852	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0159	1	366	0.0027	-28	c.604 others(45): Show c.604-1206_604-1179delATATATATATATATATATATATATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DIABLO_chr12_122202668_122231052	122203645	GGCCCCAA others(21): Show GGCCCCAAACCCGCCCCCGCCAGAACCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02896.hp1 HG02258.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0053 a0001c0001t0009g0053	2	380	0.0053	-28	c.47 others(39): Show c.4708_*4735delGGGGTTCTGGCGGGGGCGGGTTTGGGGC	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding		4022		chr12	TogoVar
DIAPH2_chrX_96679842_97609997	96854598	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03471.hp1 HG01515.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0022 a0001c0003t0001g0136 a0001c0001t0002g0022 a0001c0003t0001g0136	2	147	0.0136	-28	c.448 others(47): Show c.448-26964_448-26937delATATATATATATATATATATATATAT AT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185453	GTGTATAT others(21): Show GTGTATATATATATATATACACATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp1 HG01891.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0108 a0001c0001t0022g0112 a0001c0001t0004g0108 a0001c0001t0022g0112	2	147	0.0136	-28	c.271 others(49): Show c.2719+43661_2719+43688delGTATATATATATATATACACATAT ATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59820769	GTGTTATA others(21): Show GTGTTATAATAGTATTAAATACTATTTAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	208	0.0048	-28	c.302 others(47): Show c.3028-9874_3028-9847delTTAAATAGTATTTAATACTATTATAA CA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	24/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60099907	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02615.hp1 others(8): Show HG01884.hp1 HG01891.hp2 HG02615.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG03098.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0196 others(8): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0002g0197 a0001c0001t0007g0131 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0001t0007g0198	11	208	0.0529	-28	c.391 others(45): Show c.391-6203_391-6176delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIMT1_chr5_62382254_62408905	62407020	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	404	0.0025	-28	c.-32 others(39): Show c.-3276_-3249delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding		3116		chr5	TogoVar
DIP2B_chr12_50499985_50753657	50579642	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	284	0.0035	-28	c.101 others(47): Show c.101-46332_101-46305delAATATATATATATATATATATATATA TA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579644	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0283 a0001c0004t0005g0283	1	284	0.0035	-28	c.101 others(47): Show c.101-46284_101-46257delTATATATATATATATATATATATATA TA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50623423	ACACACAC others(21): Show ACACACACACACACACTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0210 a0001c0002t0004g0210	1	284	0.0035	-28	c.101 others(45): Show c.101-2551_101-2524delACACACACACACACTCTCTCTCTCTCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50694504	AATACATA others(21): Show AATACATACATACATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00741.hp2 others(28): Show HG00099.hp2 HG00140.hp2 HG00741.hp2 HG01074.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01517.hp1 HG01891.hp2 HG02040.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0005 a0009c0020 a0001c0001 a0002c0005 a0009c0020	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(16): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0002c0005t0006 a0009c0020t0023	a0001c0001t0006g0078 a0001c0001t0008g0182 a0001c0001t0010g0089 others(28): Show a0001c0001t0006g0078 a0001c0001t0008g0182 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0010g0101 a0001c0001t0011g0079 a0001c0001t0011g0080 a0001c0001t0011g0097 a0001c0001t0012g0086 a0001c0001t0012g0087 a0001c0001t0012g0102 a0001c0001t0015g0075 a0001c0001t0015g0088 a0001c0001t0016g0084 a0001c0001t0016g0085 a0001c0001t0019g0096 a0001c0001t0020g0081 a0001c0001t0021g0082 a0001c0001t0022g0099 a0001c0001t0024g0091 a0001c0001t0025g0077 a0001c0001t0026g0083 a0001c0001t0027g0098 a0001c0001t0028g0095 a0001c0001t0029g0076 a0002c0005t0006g0103 a0002c0005t0006g0107 a0002c0005t0006g0108 a0002c0005t0006g0109 a0002c0005t0006g0110 a0009c0020t0023g0100	31	284	0.1092	-28	c.172 others(45): Show c.1720-733_1720-706delTACATACATACATACATACATACATACA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	358720	CGGGGGTG others(21): Show CGGGGGTGGGAGGTGGGGGACGGGGGATG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	88	0.0114	-28	c.279 others(45): Show c.2795-811_2795-784delCATCCCCCGTCCCCCACCTCCCACCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	441939	TGACAGAC others(21): Show TGACAGACGGGGTAGAGAATTAAAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00673.hp2 others(29): Show HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02602.hp2 HG02809.hp2 HG03453.hp1 HG03834.hp1 HG03942.hp2 NA18747.hp2 NA18962.hp1 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0005t0002 a0001c0008t0001 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0019t0006	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 others(29): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0012 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0003t0002g0021 a0001c0003t0002g0037 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0019t0006g0014	32	88	0.3636	-28	c.269 others(43): Show c.269-971_269-944delTCTGCTTTAATTCTCTACCCCGTCTGTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	578784	AGCATAAG others(21): Show AGCATAAGTGCACTATAACATGTGTGCAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-28	c.86- others(45): Show c.86-92282_86-92255delATGCACACATGTTATAGTGCACTTATGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

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