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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DEPTOR_chr8_119868722_120055918	120027234	A A	AAATAACA others(8): Show AAATAACAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0005 a0002c0001t0001g0005	1	198	0.0051	15	c.110 others(36): Show c.1101+18106_1101+18107insCAATAATAATAATAA		DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120027234	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01169.hp1 HG01261.hp1 others(19): Show HG01099.hp2 HG01169.hp1 HG01261.hp1 HG01496.hp2 HG01952.hp2 HG02135.hp1 HG02145.hp1 HG02630.hp2 HG02896.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18984.hp2 NA19011.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0008 a0002c0001t0004 a0002c0001t0006 a0002c0001t0009 a0003c0004t0015 a0004c0006t0009	a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0069 others(19): Show a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0002g0109 a0001c0003t0001g0060 a0001c0003t0001g0117 a0001c0003t0001g0120 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0160 a0001c0003t0001g0197 a0001c0003t0008g0049 a0002c0001t0004g0137 a0002c0001t0006g0066 a0002c0001t0009g0127 a0003c0004t0015g0037 a0004c0006t0009g0193 a0004c0006t0009g0194 a0004c0006t0009g0195 a0004c0006t0009g0196	22	198	0.1111	15	c.110 others(36): Show c.1101+18114_1101+18128dupAATAATAATAATAAT		DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
DERA_chr12_15906332_16042381	15936850	G G	GTTGTCTT others(8): Show GTTGTCTTGTCTTGTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02602.hp1 HG01168.hp1 HG01169.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0227 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0227	3	258	0.0116	15	c.32- others(32): Show c.32-20060_32-20046dupTTGTCTTGTCTTGTC		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
DERA_chr12_15906332_16042381	15936886	T T	TTGTCTTG others(8): Show TTGTCTTGTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02602.hp2 NA18949.hp1 HG02300.hp1 HG02602.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0218 a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0218	3	258	0.0116	15	c.32- others(32): Show c.32-20046_32-20045insTTGTCCTGTCCTGTC		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
DERA_chr12_15906332_16042381	15936886	T T	TTGTCTTG others(8): Show TTGTCTTGTCTTGTCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03195.hp2 HG01496.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0211 a0001c0001t0001g0130 a0001c0001t0001g0211	2	258	0.0078	15	c.32- others(32): Show c.32-20046_32-20045insTTGTCTTGTCCTGTC		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
DERL3_chr22_23829503_23844006	23830649	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18969.hp1 NA18747.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	2	431	0.0046	15	c.62 others(26): Show c.6205_*6219dupAAAAAAAAAAAAAAA		DERL3	ENSG00000099958.15	transcript	ENST00000318109.12	protein_coding					3853		chr22	TogoVar
DET1_chr15_88507480_88551681	88522512	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01168.hp2 others(20): Show HG00741.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG02080.hp1 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02735.hp2 HG02896.hp1 HG03017.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG04228.hp1 NA19006.hp2 NA19070.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0006t0002	a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0109 others(20): Show a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0002g0025 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0006g0045 a0003c0006t0002g0198	23	402	0.0572	15	c.127 others(34): Show c.1271+5072_1271+5086dupAAAAAAAAAAAAAAA		DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	3/4						chr15	TogoVar
DET1_chr15_88507480_88551681	88533852	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG02976.hp1 others(2): Show HG01884.hp1 HG02922.hp2 HG02976.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0004t0001g0054 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0004t0001g0054 a0001c0004t0001g0067 a0001c0004t0001g0070	5	402	0.0124	15	c.-10 others(32): Show c.-10-2152_-10-2138dupTTTTTTTTTTTTTTT		DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	1/4						chr15	TogoVar
DET1_chr15_88507480_88551681	88536770	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	402	0.0025	15	c.-10 others(32): Show c.-10-5070_-10-5056dupTTTTTTTTTTTTTTT		DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	1/4						chr15	TogoVar
DFFB_chr1_3852476_3890429	3868599	A A	ACCACACC others(8): Show ACCACACCACACCAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 NA18522.hp2 others(1): Show HG02258.hp1 HG02451.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018	a0001c0001t0004g0261 a0001c0001t0004g0270 a0001c0001t0007g0262 others(1): Show a0001c0001t0004g0261 a0001c0001t0004g0270 a0001c0001t0007g0262 a0001c0001t0018g0047	4	404	0.0099	15	c.510 others(30): Show c.510+554_510+555insCACCAAGCCACACCA		DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313660	G G	GCGCCTCC others(8): Show GCGCCTCCCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 NA18965.hp2 HG01993.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0001g0003 a0001c0001t0002g0002	2	370	0.0054	15	c.28 others(26): Show c.2893_*2894insGGAGGCGGGGAGGCG		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding					923		chr8	TogoVar
DGCR8_chr22_20075241_20116872	20077152	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0002	1	419	0.0024	15	c.-35 others(26): Show c.-3509_-3508insTTTTTTTTTTTTTTT		DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding					3088		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20111706	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0074 a0003c0003t0074	a0003c0003t0074g0073 a0003c0003t0074g0073	1	419	0.0024	15	c.16 others(26): Show c.1600_*1614dupCCCCCCCCCCCCCCC		DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	14/14				1615	INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14612154	C C	CATTTTAT others(8): Show CATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02965.hp2 HG03130.hp1 others(2): Show HG02735.hp1 HG02965.hp2 HG03130.hp1 HG03579.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0013	a0001c0001t0023 a0001c0002t0002 a0001c0006t0008 others(2): Show a0001c0001t0023 a0001c0002t0002 a0001c0006t0008 a0001c0008t0003 a0001c0013t0017	a0001c0001t0023g0122 a0001c0002t0002g0074 a0001c0006t0008g0080 others(2): Show a0001c0001t0023g0122 a0001c0002t0002g0074 a0001c0006t0008g0080 a0001c0008t0003g0077 a0001c0013t0017g0084	5	148	0.0338	15	c.135 others(34): Show c.1358+1171_1358+1185dupAAAATAAAATAAAAT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	16/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14689199	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	148	0.0068	15	c.712 others(32): Show c.712-3852_712-3838dupAAAAAAAAAAAAAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	9/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14811813	C C	CAAATTGT others(8): Show CAAATTGTATTATTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(85): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01515.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18968.hp1 NA18984.hp1 NA18988.hp2 NA19002.hp2 NA19030.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19081.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0023 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0022 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0018 a0001c0003t0035 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0026 a0001c0004t0027 a0001c0006t0004 a0001c0006t0019 a0001c0008t0003 a0001c0012t0003 a0001c0013t0017 a0001c0014t0001 a0001c0015t0032 a0001c0016t0001 a0001c0017t0024 a0002c0005t0006 a0002c0005t0011	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(85): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0132 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0001t0041g0147 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0096 a0001c0002t0002g0128 a0001c0002t0002g0137 a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0027 a0001c0002t0003g0058 a0001c0002t0003g0072 a0001c0002t0003g0135 a0001c0002t0004g0088 a0001c0002t0009g0064 a0001c0002t0012g0120 a0001c0002t0022g0013 a0001c0002t0029g0002 a0001c0002t0030g0092 a0001c0002t0031g0008 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0002t0040g0068 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0001g0087 a0001c0003t0001g0136 a0001c0003t0002g0063 a0001c0003t0003g0094 a0001c0003t0004g0009 a0001c0003t0004g0012 a0001c0003t0004g0083 a0001c0003t0005g0057 a0001c0003t0005g0073 a0001c0003t0005g0124 a0001c0003t0005g0130 a0001c0003t0008g0011 a0001c0003t0009g0004 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0003t0035g0126 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0035 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0004t0026g0138 a0001c0004t0027g0059 a0001c0006t0004g0145 a0001c0006t0019g0144 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0015t0032g0019 a0001c0016t0001g0039 a0001c0017t0024g0146 a0002c0005t0006g0139 a0002c0005t0011g0062	88	148	0.5946	15	c.70+ others(32): Show c.70+29380_70+29381insAAAATAATACAATTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14852487	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18988.hp2 homoSapiens_chm13v2.hp1 HG02976.hp2 NA18988.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0017 a0001c0001 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0004t0004 a0001c0017t0024 a0001c0001t0001 a0001c0004t0004 a0001c0017t0024	a0001c0001t0001g0140 a0001c0004t0004g0113 a0001c0017t0024g0146 a0001c0001t0001g0140 a0001c0004t0004g0113 a0001c0017t0024g0146	3	148	0.0203	15	c.-18 others(36): Show c.-187-11038_-187-11037insTTTTTTTTTTTTTTT		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25						chr7	TogoVar
DGKG_chr3_186142201_186367234	186249832	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0198 a0001c0002t0009g0198	1	234	0.0043	15	c.176 others(34): Show c.1761+1912_1761+1926dupGTTTTGTTTTGTTTT		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	19/24						chr3	TogoVar
DGKG_chr3_186142201_186367234	186250557	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02257.hp1 HG03453.hp1 others(1): Show HG01256.hp2 HG02257.hp1 HG03453.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0010 others(1): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001	a0001c0002t0010 a0001c0003t0005 a0001c0010t0012 others(1): Show a0001c0002t0010 a0001c0003t0005 a0001c0010t0012 a0002c0001t0009	a0001c0002t0010g0161 a0001c0003t0005g0108 a0001c0010t0012g0053 others(1): Show a0001c0002t0010g0161 a0001c0003t0005g0108 a0001c0010t0012g0053 a0002c0001t0009g0167	4	234	0.0171	15	c.176 others(34): Show c.1761+1201_1761+1202insAAAAAAAAAAAAAAA		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	19/24						chr3	TogoVar
DGKG_chr3_186142201_186367234	186310265	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG02145.hp2 others(2): Show HG00735.hp1 HG01256.hp2 HG02145.hp2 HG02280.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0001c0020 others(1): Show a0001c0002 a0001c0010 a0001c0020 a0002c0001	a0001c0002t0003 a0001c0002t0010 a0001c0010t0030 others(2): Show a0001c0002t0003 a0001c0002t0010 a0001c0010t0030 a0001c0020t0003 a0002c0001t0005	a0001c0002t0003g0202 a0001c0002t0010g0161 a0001c0010t0030g0149 others(2): Show a0001c0002t0003g0202 a0001c0002t0010g0161 a0001c0010t0030g0149 a0001c0020t0003g0222 a0002c0001t0005g0065	5	234	0.0214	15	c.68- others(30): Show c.68-3303_68-3289dupTTTTTTTTTTTTTTT		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	2/24						chr3	TogoVar
DGKH_chr13_42043648_42247896	42135507	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01081.hp1 others(15): Show HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp2 HG02698.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18981.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0002c0022 a0008c0023 a0001c0003 a0002c0022 a0008c0023	a0001c0003t0010 a0001c0003t0025 a0001c0003t0043 others(8): Show a0001c0003t0010 a0001c0003t0025 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0109 a0001c0003t0110 a0001c0003t0115 a0002c0022t0008 a0008c0023t0112	a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 others(15): Show a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0279 a0001c0003t0025g0138 a0001c0003t0025g0186 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0045g0178 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0115g0201 a0002c0022t0008g0162 a0008c0023t0112g0147	18	316	0.0570	15	c.384 others(32): Show c.384+5876_384+5877insAAAAAAAAAAAAAGA		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207024	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0236 a0001c0001t0091g0236	1	316	0.0032	15	c.260 others(32): Show c.2601+880_2601+881insCTTTCTTTCTTTCTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137605313	T T	TATAAAAT others(8): Show TATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG02109.hp1 others(6): Show HG01099.hp2 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02976.hp1 NA18979.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0015 a0001c0018	a0001c0001t0002 a0001c0003t0006 a0001c0005t0031 others(5): Show a0001c0001t0002 a0001c0003t0006 a0001c0005t0031 a0001c0007t0003 a0001c0008t0020 a0001c0010t0012 a0001c0015t0027 a0001c0018t0005	a0001c0001t0002g0013 a0001c0003t0006g0046 a0001c0005t0031g0060 others(6): Show a0001c0001t0002g0013 a0001c0003t0006g0046 a0001c0005t0031g0060 a0001c0007t0003g0088 a0001c0008t0020g0048 a0001c0010t0012g0047 a0001c0010t0012g0053 a0001c0015t0027g0033 a0001c0018t0005g0065	9	94	0.0957	15	c.116 others(34): Show c.1167+3638_1167+3652dupTTTATTTTATTTTAT		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	10/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137691809	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0019 a0001c0009 a0001c0019	a0001c0009t0040 a0001c0019t0005 a0001c0009t0040 a0001c0019t0005	a0001c0009t0040g0086 a0001c0019t0005g0090 a0001c0009t0040g0086 a0001c0019t0005g0090	2	94	0.0213	15	c.402 others(32): Show c.402-1808_402-1807insCAAAAAAAAAAAAAA		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137706477	C C	CTTATTTT others(8): Show CTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0094 a0001c0003t0046g0094	1	94	0.0106	15	c.402 others(34): Show c.402-16490_402-16476dupAATAAAATAAAATAA		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137767471	G G	GGAAGAGA others(8): Show GGAAGAGAAGAGAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp2 HG02145.hp2 others(12): Show HG01261.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03453.hp1 HG03654.hp2 NA18906.hp1 NA18979.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0001t0004 a0001c0003t0046 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0046 a0001c0004t0010 a0001c0006t0008 a0001c0007t0041 a0001c0007t0042 a0001c0013t0039 a0001c0015t0027 a0001c0018t0005 a0001c0019t0005 a0001c0021t0002 a0001c0022t0002	a0001c0001t0002g0013 a0001c0001t0002g0049 a0001c0001t0004g0037 others(12): Show a0001c0001t0002g0013 a0001c0001t0002g0049 a0001c0001t0004g0037 a0001c0003t0046g0094 a0001c0004t0010g0087 a0001c0006t0008g0043 a0001c0006t0008g0044 a0001c0007t0041g0073 a0001c0007t0042g0078 a0001c0013t0039g0068 a0001c0015t0027g0033 a0001c0018t0005g0065 a0001c0019t0005g0090 a0001c0021t0002g0059 a0001c0022t0002g0042	15	94	0.1596	15	c.402 others(34): Show c.402-77484_402-77470dupTCTTCTCTTCTCTTC		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137846134	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0042 a0001c0007t0042	a0001c0007t0042g0078 a0001c0007t0042g0078	1	94	0.0106	15	c.401 others(30): Show c.401+327_401+328insGAGAGAGAGAGAGAG		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32						chr7	TogoVar
DGKK_chrX_50360409_50475825	50447328	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01099.hp1 others(32): Show HG00140.hp1 HG00280.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02523.hp1 HG03239.hp2 HG03654.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18953.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp1 NA19062.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0019 a0001c0001 a0001c0011 a0001c0019	a0001c0001t0001 a0001c0001t0007 a0001c0011t0010 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0011t0010 a0001c0019t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0032 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0173 a0001c0001t0007g0111 a0001c0011t0010g0011 a0001c0019t0001g0038	35	248	0.1411	15	c.645 others(34): Show c.645+22691_645+22705dupATATATATATATATA		DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27						chrX	TogoVar
DGLUCY_chr14_91109073_91230632	91182898	G G	GTTATTTT others(8): Show GTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0168 a0003c0003t0001g0168	1	216	0.0046	15	c.934 others(32): Show c.934+1522_934+1536dupATTTTATTTTATTTT		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91202058	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp2 HG01261.hp2 others(16): Show HG00738.hp1 HG01192.hp2 HG01261.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0011 a0015	a0001c0001 a0002c0002 a0004c0005 others(3): Show a0001c0001 a0002c0002 a0004c0005 a0010c0012 a0011c0011 a0015c0026	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0010c0012t0001 a0011c0011t0002 a0015c0026t0015	a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0156 others(16): Show a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0156 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0101 a0004c0005t0001g0098 a0004c0005t0001g0112 a0004c0005t0001g0153 a0010c0012t0001g0062 a0011c0011t0002g0006 a0011c0011t0002g0007 a0011c0011t0002g0201 a0015c0026t0015g0038	19	216	0.0880	15	c.144 others(34): Show c.1444+2166_1444+2180dupAATAATAATAATAAT		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91205754	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02922.hp2 others(2): Show HG02559.hp1 HG02723.hp2 HG02922.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0152 a0001c0001t0004g0169 a0001c0001t0004g0170 others(2): Show a0001c0001t0001g0152 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0014g0173	5	216	0.0232	15	c.156 others(32): Show c.1564+957_1564+971dupTCTTCTTCTTCTTCT		DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
DGUOK_chr2_73921880_73963946	73923641	C C	CAAGAAAA others(8): Show CAAGAAAAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG01516.hp2 others(11): Show HG01192.hp1 HG01261.hp2 HG01516.hp2 HG02040.hp1 HG02486.hp2 HG02602.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG03486.hp1 HG03704.hp1 NA18988.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0034 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0002g0007 a0001c0001t0002g0089	14	352	0.0398	15	c.-32 others(26): Show c.-3270_-3269insAAGAAAAGAAAAGAA		DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding					3238		chr2	TogoVar
DGUOK_chr2_73921880_73963946	73926861	G G	GGGCGGAA others(8): Show GGGCGGAAGTGCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	15	c.-50 others(22): Show c.-50_-49insGGCGGAAGTGCTCTC		DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding					18		chr2	TogoVar
DGUOK_chr2_73921880_73963946	73963054	T T	TTGTGGCC others(8): Show TTGTGGCCCCTTCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	352	0.0028	15	c.43 others(26): Show c.4318_*4319insTGTGGCCCCTTCATC		DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding					4109		chr2	TogoVar
DHODH_chr16_72003744_72032659	72017770	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0077 a0002c0002t0077	a0002c0002t0077g0054 a0002c0002t0077g0054	1	414	0.0024	15	c.517 others(30): Show c.517+668_517+682dupTTTTTTTTTTTTTTT		DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	32	0.0313	15	c.665 others(30): Show c.665+442_665+456dupTTTTTTTTTTTTTTT		DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS7B_chr17_21121964_21196420	21164030	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG00738.hp1 others(39): Show HG00558.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01952.hp2 HG02055.hp1 HG02056.hp2 HG02165.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18940.hp2 NA18944.hp1 NA18950.hp1 NA18955.hp1 NA18978.hp1 NA18997.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19080.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0236 a0001c0001t0001g0242 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0002c0005t0001g0274 a0002c0005t0001g0275	42	382	0.1100	15	c.21- others(30): Show c.21-7986_21-7972dupTTTTTTTTTTTTTTT		DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7_chr14_60139119_60170398	60169133	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02280.hp2 HG03540.hp2 others(3): Show HG00323.hp2 HG02280.hp2 HG03540.hp2 NA18946.hp2 NA18962.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0106 others(3): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0106 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0137	6	388	0.0155	15	c.-38 others(26): Show c.-3839_-3825dupTTTTTTTTTTTTTTT		DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding					3736		chr14	TogoVar
DHRS9_chr2_169064563_169101167	169078840	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	398	0.0025	15	c.-59 others(32): Show c.-59-2682_-59-2681insTTTTTTTTTTTTTGT		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	398	0.0025	15	c.-59 others(32): Show c.-59-1537_-59-1536insGAGAGAGAAGAAAGA		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2246665	G G	GAAAGAAA others(8): Show GAAAGAAAGAAAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0040 a0003c0016t0002g0040	1	50	0.0200	15	c.597 others(32): Show c.597-3436_597-3435insTCTTTTTCTTTCTTT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2328079	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0001 a0005c0008t0006g0001	1	50	0.0200	15	c.287 others(34): Show c.287-36477_287-36476insTTTTTTTTTTTTTTT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2334170	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02886.hp2 others(3): Show HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG03098.hp1 NA18522.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0006 a0010c0015	a0001c0001t0001 a0002c0002t0004 a0004c0004t0009 others(2): Show a0001c0001t0001 a0002c0002t0004 a0004c0004t0009 a0005c0006t0004 a0010c0015t0007	a0001c0001t0001g0003 a0002c0002t0004g0031 a0002c0002t0004g0035 others(3): Show a0001c0001t0001g0003 a0002c0002t0004g0031 a0002c0002t0004g0035 a0004c0004t0009g0032 a0005c0006t0004g0034 a0010c0015t0007g0036	6	50	0.1200	15	c.287 others(34): Show c.287-42568_287-42567insAAAAAAAAAAAAAAA		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2370590	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0010 a0002c0005t0008g0010	1	50	0.0200	15	c.286 others(34): Show c.286+38140_286+38154dupTTTTTTTTTTTTTTT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12090432	C C	CCTTCCTT others(8): Show CCTTCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0163 a0003c0004t0001g0163	1	374	0.0027	15	c.988 others(32): Show c.988-1081_988-1080insCTTCCTTCCTTCTTT		DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	5/16						chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00735.hp2 others(17): Show HG00558.hp1 HG00642.hp1 HG00735.hp2 HG01243.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02976.hp2 NA18522.hp1 NA18906.hp1 NA18948.hp2 NA18955.hp1 NA18971.hp2 NA18972.hp1 NA18994.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19068.hp1 NA19084.hp2	a0003 a0004 a0015 a0003 a0004 a0015	a0003c0003 a0003c0012 a0004c0007 others(1): Show a0003c0003 a0003c0012 a0004c0007 a0015c0027	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(9): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0003c0003t0012 a0003c0003t0013 a0003c0012t0013 a0004c0007t0002 a0004c0007t0006 a0015c0027t0002	a0003c0003t0001g0014 a0003c0003t0002g0010 a0003c0003t0002g0012 others(17): Show a0003c0003t0001g0014 a0003c0003t0002g0010 a0003c0003t0002g0012 a0003c0003t0002g0177 a0003c0003t0002g0179 a0003c0003t0002g0182 a0003c0003t0002g0193 a0003c0003t0003g0174 a0003c0003t0003g0184 a0003c0003t0003g0191 a0003c0003t0004g0181 a0003c0003t0007g0219 a0003c0003t0007g0273 a0003c0003t0008g0036 a0003c0003t0012g0211 a0003c0003t0013g0197 a0003c0012t0013g0237 a0004c0007t0002g0224 a0004c0007t0006g0243 a0015c0027t0002g0234	20	374	0.0535	15	c.175 others(30): Show c.1756+39_1756+40insTTTTTTTTTTTTTTT		DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	374	0.0027	15	c.108 others(34): Show c.1081-1087_1081-1073dupTTTTTTTTTTTTTTT		DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13						chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01069.hp2 others(11): Show HG00099.hp1 HG00099.hp2 HG01069.hp2 HG01071.hp2 HG01516.hp1 HG01884.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03942.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0114 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0171 a0001c0001t0001g0172	14	374	0.0374	15	c.507 others(32): Show c.507+2023_507+2037dupTTTTTTTTTTTTTTT		DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13						chr4	TogoVar
DHX29_chr5_55251055_55312694	55289358	C C	CTGAAGAA others(8): Show CTGAAGAAGAGAAAGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18997.hp2 NA18997.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0261 a0006c0017t0001g0261	1	340	0.0029	15	c.977 others(22): Show c.977_978insCCTTTCTCTTCTTCA	p.Arg others(27): Show p.Arg326delinsSerLeuSerLeuLeuGln	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	8/27	1098/4664	977/4110	326/1369			chr5	TogoVar
DHX30_chr3_47798138_47855193	47828910	T T	TTGCTGCT others(8): Show TTGCTGCTGTGAGGTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp2 HG01496.hp1 HG01074.hp1 HG01346.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0223	3	266	0.0113	15	c.256 others(28): Show c.256-98_256-84dupTGCTGCTGTGAGGTC		DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr3	TogoVar

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