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
ARSH_chrX_3001546_3039111	3021881	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp1 HG01099.hp1 others(15): Show HG00438.hp2 HG01074.hp1 HG01099.hp1 HG01934.hp1 HG02165.hp1 HG02258.hp1 HG02683.hp2 HG02738.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp2 NA18994.hp1 NA19056.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0049 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0200 a0001c0001t0001g0227	18	248	0.0726	6	c.902 others(23): Show c.902-2114_902-2109dupGTGTGT		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	5/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3036732	T T	TATATTA TATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0203 a0008c0009t0001g0203	1	248	0.0040	6	c.33 others(17): Show c.3347_*3348insATATTA		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2622		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036775	T T	TATAAAA TATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0011 a0010c0013t0011	a0010c0013t0011g0047 a0010c0013t0011g0047	1	248	0.0040	6	c.33 others(17): Show c.3390_*3391insATAAAA		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2665		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036962	T T	TATATCA TATATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0217 a0002c0004t0002g0217	1	248	0.0040	6	c.35 others(17): Show c.3577_*3578insATATCA		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2852		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TATATAA TATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01168.hp1 others(3): Show HG00741.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0002 a0002c0006t0002 a0002c0004t0002 a0002c0006t0002	a0002c0004t0002g0013 a0002c0004t0002g0217 a0002c0006t0002g0156 others(2): Show a0002c0004t0002g0013 a0002c0004t0002g0217 a0002c0006t0002g0156 a0002c0006t0002g0159 a0002c0006t0002g0207	6	248	0.0242	6	c.36 others(17): Show c.3671_*3672insATATAA		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2946		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037096	A A	AATATAT AATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG03927.hp2 HG02572.hp1 HG03579.hp1 HG03927.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0018 a0001c0002 a0006c0018	a0001c0002t0006 a0006c0018t0008 a0001c0002t0006 a0006c0018t0008	a0001c0002t0006g0093 a0001c0002t0006g0094 a0006c0018t0008g0023 a0001c0002t0006g0093 a0001c0002t0006g0094 a0006c0018t0008g0023	3	248	0.0121	6	c.37 others(17): Show c.3711_*3712insATATAT		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2986		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037128	A A	AATATAT AATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG01169.hp1 HG00733.hp2 HG01168.hp2 HG01169.hp1	a0001 a0005 a0001 a0005	a0001c0015 a0005c0008 a0001c0015 a0005c0008	a0001c0015t0004 a0005c0008t0004 a0001c0015t0004 a0005c0008t0004	a0001c0015t0004g0211 a0005c0008t0004g0212 a0005c0008t0004g0213 a0001c0015t0004g0211 a0005c0008t0004g0212 a0005c0008t0004g0213	3	248	0.0121	6	c.37 others(17): Show c.3743_*3744insATATAT		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					3018		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037178	T T	TATATAA TATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01884.hp2 HG02451.hp1 others(2): Show HG01257.hp2 HG01884.hp2 HG02451.hp1 HG02922.hp1 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0014 a0001c0002 a0001c0007 a0001c0014	a0001c0002t0002 a0001c0007t0002 a0001c0014t0002 a0001c0002t0002 a0001c0007t0002 a0001c0014t0002	a0001c0002t0002g0157 a0001c0007t0002g0219 a0001c0007t0002g0220 others(2): Show a0001c0002t0002g0157 a0001c0007t0002g0219 a0001c0007t0002g0220 a0001c0007t0002g0228 a0001c0014t0002g0205	5	248	0.0202	6	c.37 others(17): Show c.3793_*3794insATATAA		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					3068		chrX	TogoVar
ARSJ_chr4_113895284_113984647	113921117	A A	ACACACT ACACACT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(20): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00735.hp2 HG01975.hp2 HG02040.hp2 HG02056.hp1 HG02165.hp1 HG02257.hp1 HG02559.hp2 HG02818.hp1 HG02965.hp1 HG04204.hp2 NA18522.hp2 NA18946.hp1 NA18952.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18990.hp2 NA19007.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0037	a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0082 others(19): Show a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0144 a0001c0001t0001g0175 a0001c0001t0001g0208 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0280 a0001c0001t0003g0301 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0006g0034 a0001c0001t0011g0063 a0001c0001t0011g0064 a0001c0001t0037g0178	23	350	0.0657	6	c.399 others(25): Show c.399-17443_399-17442insAGTGTG		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ARSL_chrX_2929521_2969341	2944272	G G	GGTGAAA GGTGAAA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0251 a0012c0020t0001g0251	1	328	0.0031	6	c.992 others(23): Show c.992-1079_992-1074dupTTTCAC		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	7/10						chrX	TogoVar
ARSL_chrX_2929521_2969341	2945005	T T	TAAGAAG TAAGAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03098.hp1 HG02486.hp1 HG02622.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001	a0002c0002t0001g0213 a0002c0002t0002g0044 a0002c0003t0001g0242 a0002c0002t0001g0213 a0002c0002t0002g0044 a0002c0003t0001g0242	3	328	0.0092	6	c.991 others(21): Show c.991+987_991+992dupCTTCTT		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	7/10						chrX	TogoVar
ARSL_chrX_2929521_2969341	2954628	G G	GTATTAT GTATTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02280.hp2 others(8): Show HG01884.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0001 a0004c0006t0001 a0004c0006t0002 a0002c0003t0001 a0004c0006t0001 a0004c0006t0002	a0002c0003t0001g0212 a0002c0003t0001g0217 a0002c0003t0001g0242 others(7): Show a0002c0003t0001g0212 a0002c0003t0001g0217 a0002c0003t0001g0242 a0004c0006t0001g0245 a0004c0006t0002g0003 a0004c0006t0002g0024 a0004c0006t0002g0030 a0004c0006t0002g0042 a0004c0006t0002g0043 a0004c0006t0002g0045	11	328	0.0335	6	c.307 others(21): Show c.307+782_307+787dupATAATA		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	4/10						chrX	TogoVar
ARSL_chrX_2929521_2969341	2957220	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG03098.hp1 others(1): Show HG02451.hp1 HG02809.hp2 HG03098.hp1 HG03225.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0014c0026 a0002c0003 a0014c0026	a0002c0003t0001 a0002c0003t0007 a0014c0026t0001 a0002c0003t0001 a0002c0003t0007 a0014c0026t0001	a0002c0003t0001g0217 a0002c0003t0001g0242 a0002c0003t0007g0011 others(1): Show a0002c0003t0001g0217 a0002c0003t0001g0242 a0002c0003t0007g0011 a0014c0026t0001g0098	4	328	0.0122	6	c.185 others(23): Show c.185+1048_185+1053dupTTTTTT		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	3/10						chrX	TogoVar
ARSL_chrX_2929521_2969341	2960268	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	328	0.0031	6	c.23+ others(19): Show c.23+104_23+109dupTTTTTT		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	2/10						chrX	TogoVar
ART1_chr11_3640128_3669416	3653106	A A	ATCCCGC ATCCCGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG01243.hp1 others(41): Show HG00597.hp2 HG00642.hp1 HG01243.hp1 HG01993.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03927.hp2 HG04204.hp1 NA18612.hp2 NA18942.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp1 NA18984.hp1 NA18997.hp2 NA19003.hp1 NA19043.hp2 NA19057.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19087.hp2 NA20300.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 others(1): Show a0002c0002 a0002c0004 a0003c0003 a0003c0009	a0002c0002t0002 a0002c0004t0002 a0003c0003t0001 others(2): Show a0002c0002t0002 a0002c0004t0002 a0003c0003t0001 a0003c0003t0002 a0003c0009t0001	a0002c0002t0002g0125 a0002c0004t0002g0007 a0003c0003t0001g0008 others(29): Show a0002c0002t0002g0125 a0002c0004t0002g0007 a0003c0003t0001g0008 a0003c0003t0001g0022 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0064 a0003c0003t0001g0066 a0003c0003t0001g0097 a0003c0003t0001g0112 a0003c0003t0001g0321 a0003c0003t0002g0003 a0003c0003t0002g0007 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0065 a0003c0003t0002g0071 a0003c0003t0002g0302 a0003c0009t0001g0322	44	394	0.1117	6	c.-52 others(23): Show c.-52-6054_-52-6053insCCGCTC		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
ART3_chr4_76069709_76117786	76079176	T T	TAAAAAA TAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01069.hp1 others(28): Show HG00140.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01255.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0224 a0001c0001t0002g0178 a0001c0001t0002g0225 others(18): Show a0001c0001t0001g0224 a0001c0001t0002g0178 a0001c0001t0002g0225 a0001c0001t0002g0229 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0024 a0002c0002t0002g0069 a0002c0002t0002g0125 a0002c0002t0002g0165 a0002c0002t0002g0173 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0214 a0002c0002t0003g0218 a0002c0002t0005g0010 a0002c0002t0005g0215	31	392	0.0791	6	c.70- others(21): Show c.70-2635_70-2630dupAAAAAA		ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
ART4_chr12_14820569_14848526	14830119	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01106.hp2 others(9): Show HG00140.hp1 HG00438.hp1 HG01106.hp2 HG02129.hp1 HG02976.hp2 HG03540.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA19063.hp2 NA19068.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0259 a0001c0001t0002g0027 a0001c0001t0002g0252 others(8): Show a0001c0001t0001g0259 a0001c0001t0002g0027 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0301 a0001c0001t0002g0308 a0001c0001t0004g0246 a0002c0002t0002g0057 a0002c0002t0002g0077 a0002c0002t0002g0101 a0002c0002t0004g0066	12	380	0.0316	6	c.854 others(21): Show c.854-663_854-658dupACACAC		ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2						chr12	TogoVar
ART4_chr12_14820569_14848526	14830536	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02273.hp1 HG02965.hp1 others(3): Show HG01928.hp1 HG02273.hp1 HG02965.hp1 NA18969.hp1 NA18991.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0218 a0001c0001t0001g0276 a0001c0001t0001g0278 others(3): Show a0001c0001t0001g0218 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0006g0042	6	380	0.0158	6	c.854 others(23): Show c.854-1080_854-1075dupACACAC		ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2						chr12	TogoVar
ART4_chr12_14820569_14848526	14830649	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG01934.hp1 others(8): Show HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG03453.hp1 NA18522.hp2 NA18969.hp1 NA18977.hp1 NA18999.hp1 NA19063.hp2 NA19080.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0002c0002t0002 a0002c0002t0004 a0003c0003t0003 a0004c0005t0003	a0001c0001t0001g0289 a0001c0001t0002g0255 a0001c0001t0002g0298 others(8): Show a0001c0001t0001g0289 a0001c0001t0002g0255 a0001c0001t0002g0298 a0001c0001t0025g0317 a0002c0002t0002g0058 a0002c0002t0004g0088 a0002c0002t0004g0093 a0003c0003t0003g0174 a0003c0003t0003g0187 a0003c0003t0003g0237 a0004c0005t0003g0072	11	380	0.0290	6	c.854 others(23): Show c.854-1193_854-1188dupTATATA		ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2						chr12	TogoVar
ART4_chr12_14820569_14848526	14830649	G G	GTGTATA GTGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18941.hp2 NA20129.hp2 HG01884.hp1 NA18941.hp2 NA20129.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0009 a0002c0002t0002 a0008c0010t0009 a0001c0001t0009 a0002c0002t0002 a0008c0010t0009	a0001c0001t0009g0158 a0002c0002t0002g0092 a0008c0010t0009g0124 a0001c0001t0009g0158 a0002c0002t0002g0092 a0008c0010t0009g0124	3	380	0.0079	6	c.854 others(23): Show c.854-1188_854-1187insTATACA		ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2						chr12	TogoVar
ARV1_chr1_230974094_231005733	230984365	T T	TGTGTGC TGTGTGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG01891.hp2 others(14): Show HG01109.hp2 HG01261.hp2 HG01891.hp2 HG02055.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03471.hp2 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0137 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	17	402	0.0423	6	c.175 others(23): Show c.175-3950_175-3949insCGTGTG		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
ARX_chrX_24998694_25020965	25001239	T T	TGGGGGG TGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02056.hp1 HG02074.hp1 others(1): Show HG01952.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0002g0002 a0001c0001t0002g0016 others(1): Show a0001c0001t0001g0051 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0003g0050	4	300	0.0133	6	c.34 others(17): Show c.3430_*3431insCCCCCC		ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding					2454		chrX	TogoVar
ARX_chrX_24998694_25020965	25001911	A A	AACACAC AACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	300	0.0033	6	c.27 others(17): Show c.2758_*2759insGTGTGT		ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding					1782		chrX	TogoVar
ARX_chrX_24998694_25020965	25018638	A A	ACTATAT ACTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	300	0.0033	6	c.-29 others(17): Show c.-2902_-2901insATATAG		ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding					2674		chrX	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATA TTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00735.hp2 others(51): Show HG00099.hp2 HG00597.hp2 HG00735.hp2 HG01109.hp1 HG01928.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02273.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02886.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp1 NA18992.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19065.hp1 NA19067.hp1 NA19082.hp1 NA19083.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0003c0004t0001 a0004c0005t0015	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0051 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0086 a0001c0001t0003g0050 a0001c0001t0005g0030 a0001c0001t0009g0049 a0001c0001t0010g0037 a0001c0002t0002g0053 a0001c0002t0002g0055 a0003c0004t0001g0097 a0004c0005t0015g0038	54	300	0.1800	6	c.-29 others(17): Show c.-2903_-2902insTATATA		ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding					2675		chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCA TGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00621.hp1 HG00735.hp1 others(16): Show HG00140.hp1 HG00621.hp1 HG00735.hp1 HG01433.hp1 HG02615.hp1 HG03130.hp1 HG03490.hp1 NA18612.hp1 NA18944.hp1 NA18955.hp1 NA18967.hp1 NA19043.hp1 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19079.hp1 NA19088.hp1 NA20300.hp1 NA21309.hp1	a0003 a0030 a0061 others(5): Show a0003 a0030 a0061 a0062 a0063 a0064 a0065 a0066	a0003c0004 a0003c0077 a0030c0030 others(6): Show a0003c0004 a0003c0077 a0030c0030 a0061c0071 a0062c0072 a0063c0073 a0064c0074 a0065c0075 a0066c0076	a0003c0004t0001 a0003c0004t0003 a0003c0004t0008 others(13): Show a0003c0004t0001 a0003c0004t0003 a0003c0004t0008 a0003c0004t0012 a0003c0004t0017 a0003c0004t0022 a0003c0004t0036 a0003c0077t0060 a0030c0030t0001 a0030c0030t0058 a0061c0071t0055 a0062c0072t0054 a0063c0073t0067 a0064c0074t0032 a0065c0075t0053 a0066c0076t0003	a0003c0004t0001g0054 a0003c0004t0001g0056 a0003c0004t0001g0076 others(16): Show a0003c0004t0001g0054 a0003c0004t0001g0056 a0003c0004t0001g0076 a0003c0004t0001g0090 a0003c0004t0003g0081 a0003c0004t0008g0041 a0003c0004t0012g0103 a0003c0004t0017g0101 a0003c0004t0022g0022 a0003c0004t0036g0170 a0003c0077t0060g0100 a0030c0030t0001g0044 a0030c0030t0058g0084 a0061c0071t0055g0086 a0062c0072t0054g0055 a0063c0073t0067g0169 a0064c0074t0032g0180 a0065c0075t0053g0018 a0066c0076t0003g0040	19	193	0.0985	6	c.234 others(13): Show c.234_239dupGCAGCA	p.Gln others(11): Show p.Gln79_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	T T	TGGCGGC TGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp1 HG01891.hp1 HG02257.hp2 others(7): Show HG01106.hp1 HG01891.hp1 HG02257.hp2 HG02615.hp2 HG02886.hp1 HG03195.hp2 HG03225.hp1 HG03942.hp1 HG04204.hp1 NA18906.hp2	a0016 a0022 a0039 others(4): Show a0016 a0022 a0039 a0040 a0047 a0055 a0060	a0016c0024 a0016c0058 a0022c0021 others(5): Show a0016c0024 a0016c0058 a0022c0021 a0039c0040 a0040c0039 a0047c0048 a0055c0065 a0060c0068	a0016c0024t0010 a0016c0024t0011 a0016c0058t0012 others(7): Show a0016c0024t0010 a0016c0024t0011 a0016c0058t0012 a0022c0021t0015 a0022c0021t0034 a0039c0040t0001 a0040c0039t0011 a0047c0048t0027 a0055c0065t0002 a0060c0068t0050	a0016c0024t0010g0115 a0016c0024t0011g0004 a0016c0058t0012g0107 others(7): Show a0016c0024t0010g0115 a0016c0024t0011g0004 a0016c0058t0012g0107 a0022c0021t0015g0116 a0022c0021t0034g0147 a0039c0040t0001g0060 a0040c0039t0011g0157 a0047c0048t0027g0123 a0055c0065t0002g0099 a0060c0068t0050g0167	10	193	0.0518	6	c.141 others(15): Show c.1415_1420dupGCGGCG	p.Gly others(13): Show p.Gly472_Gly473dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2547/10667	1421/2763	474/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67551001	G G	GTTTTTT GTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG03209.hp1 others(1): Show HG02257.hp1 HG02572.hp1 HG03209.hp1 HG03486.hp1	a0009 a0050 a0056 others(1): Show a0009 a0050 a0056 a0072	a0009c0025 a0050c0056 a0056c0061 others(1): Show a0009c0025 a0050c0056 a0056c0061 a0072c0033	a0009c0025t0004 a0050c0056t0021 a0056c0061t0010 others(1): Show a0009c0025t0004 a0050c0056t0021 a0056c0061t0010 a0072c0033t0021	a0009c0025t0004g0164 a0050c0056t0021g0162 a0056c0061t0010g0161 others(1): Show a0009c0025t0004g0164 a0050c0056t0021g0162 a0056c0061t0010g0161 a0072c0033t0021g0163	4	193	0.0207	6	c.161 others(25): Show c.1616+4257_1616+4262dupTTTTTT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67604198	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01515.hp1 others(10): Show HG00741.hp2 HG01256.hp1 HG01515.hp1 HG02258.hp1 HG02615.hp1 HG03710.hp1 HG04115.hp1 NA18977.hp1 NA18984.hp1 NA19009.hp1 NA19067.hp1 NA19083.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0010 a0014 a0015 a0058 a0063 a0065	a0001c0001 a0002c0002 a0003c0004 others(8): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0007c0006 a0010c0078 a0014c0009 a0015c0010 a0058c0069 a0063c0073 a0065c0075	a0001c0001t0001 a0002c0002t0009 a0003c0004t0017 others(10): Show a0001c0001t0001 a0002c0002t0009 a0003c0004t0017 a0004c0003t0002 a0004c0003t0008 a0007c0006t0001 a0007c0006t0009 a0010c0078t0006 a0014c0009t0001 a0015c0010t0014 a0058c0069t0002 a0063c0073t0067 a0065c0075t0053	a0001c0001t0001g0091 a0002c0002t0009g0029 a0003c0004t0017g0101 others(10): Show a0001c0001t0001g0091 a0002c0002t0009g0029 a0003c0004t0017g0101 a0004c0003t0002g0096 a0004c0003t0008g0059 a0007c0006t0001g0102 a0007c0006t0009g0074 a0010c0078t0006g0183 a0014c0009t0001g0020 a0015c0010t0014g0006 a0058c0069t0002g0033 a0063c0073t0067g0169 a0065c0075t0053g0018	13	193	0.0674	6	c.161 others(27): Show c.1617-39016_1617-39011dupGTGTGT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67626610	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0065 a0018c0029t0065	a0018c0029t0065g0186 a0018c0029t0065g0186	1	193	0.0052	6	c.161 others(27): Show c.1617-16626_1617-16621dupATATAT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67695738	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02698.hp1 HG01433.hp1 HG02698.hp1	a0002 a0062 a0002 a0062	a0002c0002 a0062c0072 a0002c0002 a0062c0072	a0002c0002t0012 a0062c0072t0054 a0002c0002t0012 a0062c0072t0054	a0002c0002t0012g0189 a0062c0072t0054g0055 a0002c0002t0012g0189 a0062c0072t0054g0055	2	193	0.0104	6	c.188 others(25): Show c.1885+9641_1885+9646dupACACAC		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67701674	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0065 a0065	a0065c0075 a0065c0075	a0065c0075t0053 a0065c0075t0053	a0065c0075t0053g0018 a0065c0075t0053g0018	1	193	0.0052	6	c.188 others(25): Show c.1886-9697_1886-9692dupCACACA		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTCTGTG CTCTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01192.hp1 others(8): Show HG00741.hp1 HG01074.hp1 HG01192.hp1 HG01891.hp2 HG02809.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2 NA19062.hp1 NA19076.hp1 NA20129.hp1	a0001 a0007 a0009 others(6): Show a0001 a0007 a0009 a0012 a0013 a0027 a0050 a0051 a0072	a0001c0001 a0007c0006 a0009c0013 others(6): Show a0001c0001 a0007c0006 a0009c0013 a0012c0011 a0013c0012 a0027c0027 a0050c0056 a0051c0057 a0072c0033	a0001c0001t0001 a0001c0001t0003 a0007c0006t0003 others(7): Show a0001c0001t0001 a0001c0001t0003 a0007c0006t0003 a0009c0013t0020 a0012c0011t0019 a0013c0012t0006 a0027c0027t0051 a0050c0056t0021 a0051c0057t0038 a0072c0033t0021	a0001c0001t0001g0078 a0001c0001t0003g0079 a0007c0006t0003g0068 others(8): Show a0001c0001t0001g0078 a0001c0001t0003g0079 a0007c0006t0003g0068 a0009c0013t0020g0173 a0009c0013t0020g0174 a0012c0011t0019g0126 a0013c0012t0006g0124 a0027c0027t0051g0179 a0050c0056t0021g0162 a0051c0057t0038g0165 a0072c0033t0021g0163	11	193	0.0570	6	c.260 others(23): Show c.2607+329_2607+330insCTGTGT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02257.hp2 HG02486.hp1	a0041 a0047 a0041 a0047	a0041c0041 a0047c0048 a0041c0041 a0047c0048	a0041c0041t0045 a0047c0048t0027 a0041c0041t0045 a0047c0048t0027	a0041c0041t0045g0127 a0047c0048t0027g0123 a0041c0041t0045g0127 a0047c0048t0027g0123	2	193	0.0104	6	c.260 others(23): Show c.2608-338_2608-333dupGTGTGT		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATAT AATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01109.hp1 others(19): Show HG00099.hp1 HG01074.hp1 HG01109.hp1 HG01258.hp1 HG02040.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp2 HG02818.hp2 HG03491.hp1 HG03492.hp1 NA18612.hp1 NA18906.hp1 NA18962.hp1 NA18970.hp1 NA18974.hp1 NA18989.hp1 NA19066.hp1 NA19068.hp1 NA19076.hp1 NA19082.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0011 a0012 a0016 a0019 a0020 a0029 a0035 a0056 a0057 a0066	a0001c0001 a0002c0002 a0003c0004 others(14): Show a0001c0001 a0002c0002 a0003c0004 a0006c0016 a0007c0006 a0008c0005 a0010c0014 a0011c0008 a0012c0052 a0016c0024 a0019c0018 a0020c0019 a0029c0026 a0035c0035 a0056c0061 a0057c0062 a0066c0076	a0001c0001t0003 a0001c0001t0025 a0002c0002t0003 others(17): Show a0001c0001t0003 a0001c0001t0025 a0002c0002t0003 a0003c0004t0003 a0006c0016t0003 a0007c0006t0003 a0008c0005t0003 a0008c0005t0010 a0008c0005t0046 a0010c0014t0003 a0011c0008t0010 a0012c0052t0003 a0016c0024t0010 a0019c0018t0062 a0020c0019t0003 a0029c0026t0042 a0035c0035t0003 a0056c0061t0010 a0057c0062t0010 a0066c0076t0003	a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0025g0166 others(19): Show a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0025g0166 a0002c0002t0003g0032 a0002c0002t0003g0061 a0003c0004t0003g0081 a0006c0016t0003g0050 a0007c0006t0003g0068 a0008c0005t0003g0003 a0008c0005t0010g0003 a0008c0005t0046g0136 a0010c0014t0003g0019 a0011c0008t0010g0120 a0012c0052t0003g0071 a0016c0024t0010g0115 a0019c0018t0062g0106 a0020c0019t0003g0066 a0029c0026t0042g0114 a0035c0035t0003g0073 a0056c0061t0010g0161 a0057c0062t0010g0185 a0066c0076t0003g0040	22	193	0.1140	6	c.47 others(17): Show c.4769_*4774dupTATATA		AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8				4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102871546	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01952.hp1 others(6): Show HG00673.hp2 HG00738.hp2 HG01952.hp1 HG02970.hp2 NA18940.hp2 NA18945.hp2 NA18974.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0022 a0001c0002t0004 others(2): Show a0001c0001t0008 a0001c0001t0022 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019	a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0022g0016 others(6): Show a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0022g0016 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0018g0030 a0001c0002t0019g0031	9	362	0.0249	6	c.171 others(21): Show c.171-875_171-870dupAAAAAA		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH1_chr8_18050992_18089107	18065882	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01106.hp1 others(23): Show HG00323.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01516.hp2 HG01517.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02300.hp2 HG02559.hp2 HG03098.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG04184.hp1 NA18941.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA19056.hp1 NA19063.hp1 NA19068.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0033 a0002c0002t0035	a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0002g0166 others(12): Show a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0002g0166 a0002c0002t0001g0013 a0002c0002t0001g0150 a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0055 a0002c0002t0002g0133 a0002c0002t0002g0148 a0002c0002t0002g0152 a0002c0002t0033g0053 a0002c0002t0035g0286	26	420	0.0619	6	c.382 others(23): Show c.382+1332_382+1337dupCACACA		ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	5/13						chr8	TogoVar
ASAH2B_chr10_50734936_50764255	50754156	T T	TATACAC TATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02040.hp2 others(10): Show HG00438.hp1 HG00558.hp1 HG02040.hp2 NA18939.hp2 NA18953.hp1 NA18961.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA19079.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0108 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0019g0011	13	414	0.0314	6	c.294 others(21): Show c.294-394_294-393insTACACA		ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50754929	T T	TGAGAGA TGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02622.hp1 others(2): Show HG00639.hp2 HG02145.hp2 HG02622.hp1 HG02976.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0060 a0001c0001t0076 a0001c0001t0021 a0001c0001t0060 a0001c0001t0076	a0001c0001t0021g0007 a0001c0001t0060g0058 a0001c0001t0076g0072 a0001c0001t0021g0007 a0001c0001t0060g0058 a0001c0001t0076g0072	5	414	0.0121	6	c.19 others(15): Show c.190_*191insAGAGAG		ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	6/6				191	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187084	C C	CCTCTCT CCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00741.hp1 others(12): Show HG00140.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG02004.hp2 HG02896.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 NA19058.hp1 NA19072.hp1 NA19074.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0004 a0001c0005 a0002c0001 others(1): Show a0001c0004 a0001c0005 a0002c0001 a0010c0025	a0001c0004t0036 a0001c0004t0095 a0001c0005t0008 others(2): Show a0001c0004t0036 a0001c0004t0095 a0001c0005t0008 a0002c0001t0008 a0010c0025t0061	a0001c0004t0036g0055 a0001c0004t0036g0072 a0001c0004t0036g0288 others(12): Show a0001c0004t0036g0055 a0001c0004t0036g0072 a0001c0004t0036g0288 a0001c0004t0095g0284 a0001c0005t0008g0215 a0002c0001t0008g0123 a0002c0001t0008g0309 a0002c0001t0008g0313 a0002c0001t0008g0315 a0002c0001t0008g0316 a0002c0001t0008g0319 a0002c0001t0008g0323 a0002c0001t0008g0330 a0002c0001t0008g0343 a0010c0025t0061g0318	15	408	0.0368	6	c.22 others(15): Show c.225_*230dupAGAGAG		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21				230		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187118	T T	TCACACA TCACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01934.hp2 HG01952.hp2 others(2): Show HG01255.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02148.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0026 a0002c0001t0026	a0002c0001t0026g0029 a0002c0001t0026g0184 a0002c0001t0026g0234 others(1): Show a0002c0001t0026g0029 a0002c0001t0026g0184 a0002c0001t0026g0234 a0002c0001t0026g0262	5	408	0.0123	6	c.19 others(15): Show c.191_*196dupTGTGTG		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21				196		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187118	T T	TCTCTCA TCTCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02723.hp2 others(2): Show HG02572.hp2 HG02622.hp2 HG02723.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0025 a0001c0005t0025 a0001c0002t0025 a0001c0005t0025	a0001c0002t0025g0346 a0001c0005t0025g0007 a0001c0005t0025g0034 others(1): Show a0001c0002t0025g0346 a0001c0005t0025g0007 a0001c0005t0025g0034 a0001c0005t0025g0206	5	408	0.0123	6	c.19 others(15): Show c.196_*197insTGAGAG		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21				196		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50206537	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(88): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp1 HG03654.hp1 HG03710.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18960.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19240.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0002 a0001c0004 a0001c0007 others(8): Show a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0002c0001 a0002c0006 a0002c0024 a0003c0003 a0003c0008 a0012c0014	a0001c0002t0022 a0001c0002t0045 a0001c0002t0053 others(39): Show a0001c0002t0022 a0001c0002t0045 a0001c0002t0053 a0001c0002t0071 a0001c0002t0074 a0001c0002t0085 a0001c0004t0020 a0001c0007t0020 a0001c0009t0010 a0001c0010t0087 a0002c0001t0002 a0002c0001t0008 a0002c0001t0016 a0002c0001t0027 a0002c0001t0062 a0002c0001t0063 a0002c0001t0115 a0002c0006t0002 a0002c0024t0041 a0003c0003t0001 a0003c0003t0005 a0003c0003t0014 a0003c0003t0015 a0003c0003t0023 a0003c0003t0024 a0003c0003t0031 a0003c0003t0032 a0003c0003t0039 a0003c0003t0047 a0003c0003t0067 a0003c0003t0070 a0003c0003t0072 a0003c0003t0075 a0003c0003t0078 a0003c0003t0079 a0003c0003t0081 a0003c0003t0086 a0003c0003t0088 a0003c0003t0092 a0003c0003t0100 a0003c0008t0001 a0012c0014t0001	a0001c0002t0022g0108 a0001c0002t0045g0107 a0001c0002t0053g0078 others(82): Show a0001c0002t0022g0108 a0001c0002t0045g0107 a0001c0002t0053g0078 a0001c0002t0071g0269 a0001c0002t0074g0271 a0001c0002t0085g0270 a0001c0004t0020g0290 a0001c0004t0020g0291 a0001c0007t0020g0356 a0001c0009t0010g0305 a0001c0009t0010g0306 a0001c0009t0010g0307 a0001c0010t0087g0050 a0002c0001t0002g0239 a0002c0001t0002g0245 a0002c0001t0002g0248 a0002c0001t0008g0315 a0002c0001t0008g0316 a0002c0001t0016g0133 a0002c0001t0016g0255 a0002c0001t0027g0311 a0002c0001t0062g0320 a0002c0001t0063g0240 a0002c0001t0115g0042 a0002c0006t0002g0105 a0002c0024t0041g0314 a0003c0003t0001g0002 a0003c0003t0001g0052 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0126 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0138 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0148 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0168 a0003c0003t0001g0171 a0003c0003t0001g0186 a0003c0003t0001g0190 a0003c0003t0001g0210 a0003c0003t0005g0115 a0003c0003t0005g0173 a0003c0003t0005g0191 a0003c0003t0005g0196 a0003c0003t0005g0209 a0003c0003t0014g0151 a0003c0003t0014g0161 a0003c0003t0014g0170 a0003c0003t0015g0192 a0003c0003t0015g0197 a0003c0003t0015g0198 a0003c0003t0023g0140 a0003c0003t0023g0142 a0003c0003t0023g0159 a0003c0003t0024g0122 a0003c0003t0024g0145 a0003c0003t0024g0181 a0003c0003t0031g0021 a0003c0003t0031g0199 a0003c0003t0032g0019 a0003c0003t0032g0125 a0003c0003t0039g0149 a0003c0003t0047g0150 a0003c0003t0067g0189 a0003c0003t0070g0127 a0003c0003t0072g0223 a0003c0003t0075g0176 a0003c0003t0078g0187 a0003c0003t0079g0157 a0003c0003t0081g0139 a0003c0003t0086g0188 a0003c0003t0088g0177 a0003c0003t0092g0117 a0003c0003t0100g0172 a0003c0008t0001g0013 a0003c0008t0001g0075 a0012c0014t0001g0118	91	408	0.2230	6	c.141 others(23): Show c.1415-446_1415-441dupGTGTGT		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	12/20						chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212182	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02976.hp1 NA18977.hp1 HG01106.hp1 HG02976.hp1 NA18977.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0001c0005 a0008c0023 a0001c0004 a0001c0005 a0008c0023	a0001c0004t0006 a0001c0005t0011 a0008c0023t0110 a0001c0004t0006 a0001c0005t0011 a0008c0023t0110	a0001c0004t0006g0293 a0001c0005t0011g0041 a0008c0023t0110g0361 a0001c0004t0006g0293 a0001c0005t0011g0041 a0008c0023t0110g0361	3	408	0.0074	6	c.122 others(23): Show c.1227+784_1227+789dupGTGTGT		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20						chr10	TogoVar
ASAH2_chr10_50179861_50256516	50239828	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG02056.hp2 others(3): Show HG01361.hp1 HG01361.hp2 HG02056.hp2 HG02698.hp1 NA18991.hp1 NA19085.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0008 a0003c0003t0001 a0003c0003t0014 others(2): Show a0002c0001t0008 a0003c0003t0001 a0003c0003t0014 a0003c0003t0070 a0003c0003t0092	a0002c0001t0008g0123 a0003c0003t0001g0129 a0003c0003t0001g0130 others(3): Show a0002c0001t0008g0123 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0014g0128 a0003c0003t0070g0127 a0003c0003t0092g0117	6	408	0.0147	6	c.510 others(23): Show c.510+3368_510+3373dupAAAAAA		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	4/20						chr10	TogoVar
ASAP1_chr8_130047104_130448674	130064893	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG03239.hp1 others(6): Show HG02257.hp2 HG02647.hp2 HG03239.hp1 HG03486.hp1 NA18943.hp1 NA18946.hp2 NA19011.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006	a0001c0001t0001g0013 a0001c0001t0001g0272 a0002c0002t0001g0066 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0272 a0002c0002t0001g0066 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0103 a0002c0002t0001g0276 a0002c0002t0005g0291 a0002c0002t0006g0305	9	308	0.0292	6	c.270 others(25): Show c.2702-3830_2702-3825dupCACACA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070850	A A	AGAGAGG AGAGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02300.hp1 HG02717.hp2 others(3): Show HG02145.hp2 HG02300.hp1 HG02717.hp2 HG03195.hp1 NA18957.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0003 a0001c0001t0001 a0001c0001t0007 a0002c0002t0003	a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0227 others(3): Show a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0227 a0001c0001t0007g0004 a0002c0002t0003g0257 a0002c0002t0003g0264	6	308	0.0195	6	c.270 others(25): Show c.2701+5497_2701+5498insCCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071007	G G	GGAGAGA GGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG02055.hp2 others(4): Show HG00099.hp1 HG01074.hp2 HG02055.hp2 HG02257.hp2 HG02572.hp1 NA19030.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0010 a0001c0001 a0001c0006 a0003c0010	a0001c0001t0001 a0001c0001t0018 a0001c0006t0005 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0006t0005 a0003c0010t0019	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0018g0294 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0018g0294 a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293 a0003c0010t0019g0287	7	308	0.0227	6	c.270 others(25): Show c.2701+5340_2701+5341insTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071011	G G	GGAGAGA GGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01168.hp2 HG01516.hp2 others(14): Show HG00544.hp2 HG01168.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG02071.hp2 HG03490.hp2 HG03654.hp2 HG04199.hp1 NA18945.hp2 NA18963.hp2 NA18990.hp1 NA19000.hp1 NA19007.hp1 NA19080.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0016 a0002c0002t0020 a0002c0002t0023	a0001c0001t0001g0186 a0001c0001t0002g0027 a0001c0001t0002g0058 others(14): Show a0001c0001t0001g0186 a0001c0001t0002g0027 a0001c0001t0002g0058 a0001c0001t0002g0225 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0110 a0002c0002t0003g0113 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0246 a0002c0002t0003g0251 a0002c0002t0004g0230 a0002c0002t0015g0239 a0002c0002t0016g0133 a0002c0002t0020g0300 a0002c0002t0023g0124	17	308	0.0552	6	c.270 others(25): Show c.2701+5331_2701+5336dupTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130074486	C C	CACACAG CACACAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01515.hp2 HG02071.hp2 others(10): Show HG00609.hp2 HG01515.hp2 HG02071.hp2 HG02165.hp1 HG02300.hp1 NA18940.hp2 NA18945.hp2 NA18973.hp1 NA18975.hp2 NA18990.hp2 NA18998.hp1 NA19003.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0017 a0002c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0017 a0002c0002t0003 a0002c0002t0015	a0001c0001t0002g0044 a0001c0001t0002g0177 a0001c0001t0002g0178 others(10): Show a0001c0001t0002g0044 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0225 a0001c0001t0017g0199 a0002c0002t0003g0118 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0257 a0002c0002t0003g0283 a0002c0002t0015g0239	13	308	0.0422	6	c.270 others(25): Show c.2701+1861_2701+1862insCTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar

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