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
A1BG_chr19_58340183_58358492	58340455	CTTCTTT CTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG01975.hp1 others(5): Show HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02300.hp1 NA18986.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0011g0072	8	386	0.0207	-6	c.65 others(17): Show c.6561_*6566delAAAGAA		A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding					4727		chr19	TogoVar
A1CF_chr10_50794409_50890627	50802678	CTTAGTG CTTAGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(113): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0003c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0046 a0001c0003t0001 a0001c0003t0007 a0001c0003t0047 a0001c0005t0001 a0001c0005t0024 a0001c0005t0048 a0001c0008t0001 a0003c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(96): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0276 a0001c0001t0007g0023 a0001c0001t0007g0066 a0001c0001t0020g0112 a0001c0001t0021g0110 a0001c0001t0022g0274 a0001c0001t0023g0114 a0001c0001t0025g0123 a0001c0001t0026g0054 a0001c0001t0027g0084 a0001c0001t0046g0124 a0001c0003t0001g0009 a0001c0003t0001g0025 a0001c0003t0001g0067 a0001c0003t0001g0104 a0001c0003t0001g0109 a0001c0003t0001g0137 a0001c0003t0001g0156 a0001c0003t0001g0214 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0222 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0230 a0001c0003t0007g0231 a0001c0003t0007g0232 a0001c0003t0047g0219 a0001c0005t0001g0207 a0001c0005t0024g0208 a0001c0005t0048g0209 a0001c0008t0001g0039 a0003c0010t0001g0136	116	338	0.3432	-6	c.40 others(17): Show c.4045_*4050delCACTAA		A1CF	ENSG00000148584.16	transcript	ENST00000373997.8	protein_coding	13/13				4045		chr10	TogoVar
A2ML1_chr12_8817621_8881787	8825732	ATTAGAT ATTAGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(41): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG02132.hp1 HG02148.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02976.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG06807.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0017 a0020 a0024 a0026	a0001c0001 a0001c0002 a0002c0003 others(12): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0007 a0003c0005 a0003c0010 a0004c0042 a0004c0045 a0004c0047 a0005c0009 a0017c0018 a0020c0028 a0024c0058 a0026c0056	a0001c0001t0008 a0001c0002t0002 a0002c0003t0001 others(13): Show a0001c0001t0008 a0001c0002t0002 a0002c0003t0001 a0002c0004t0003 a0002c0007t0002 a0003c0005t0001 a0003c0005t0003 a0003c0010t0003 a0004c0042t0002 a0004c0045t0004 a0004c0047t0004 a0005c0009t0001 a0017c0018t0004 a0020c0028t0001 a0024c0058t0002 a0026c0056t0003	a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0002t0002g0098 others(39): Show a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0002t0002g0098 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0097 a0002c0003t0001g0099 a0002c0003t0001g0102 a0002c0004t0003g0002 a0002c0004t0003g0079 a0002c0007t0002g0346 a0003c0005t0001g0122 a0003c0005t0003g0080 a0003c0005t0003g0082 a0003c0005t0003g0083 a0003c0005t0003g0086 a0003c0005t0003g0091 a0003c0005t0003g0094 a0003c0005t0003g0095 a0003c0005t0003g0103 a0003c0005t0003g0104 a0003c0005t0003g0120 a0003c0005t0003g0121 a0003c0010t0003g0003 a0003c0010t0003g0078 a0003c0010t0003g0084 a0003c0010t0003g0085 a0003c0010t0003g0088 a0003c0010t0003g0090 a0003c0010t0003g0119 a0004c0042t0002g0013 a0004c0045t0004g0123 a0004c0047t0004g0093 a0005c0009t0001g0077 a0017c0018t0004g0118 a0020c0028t0001g0092 a0020c0028t0001g0096 a0024c0058t0002g0081 a0026c0056t0003g0133	44	368	0.1196	-6	c.409 others(23): Show c.409+1854_409+1859delGATTTA		A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	3/35					INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8866304	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03688.hp1 HG04204.hp1 others(3): Show HG01069.hp1 HG03688.hp1 HG04204.hp1 HG04228.hp2 NA18949.hp1 NA18968.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0002c0017 others(1): Show a0002c0003 a0002c0004 a0002c0017 a0003c0005	a0002c0003t0001 a0002c0004t0003 a0002c0017t0002 others(1): Show a0002c0003t0001 a0002c0004t0003 a0002c0017t0002 a0003c0005t0003	a0002c0003t0001g0328 a0002c0004t0003g0274 a0002c0004t0003g0279 others(3): Show a0002c0003t0001g0328 a0002c0004t0003g0274 a0002c0004t0003g0279 a0002c0017t0002g0323 a0003c0005t0003g0080 a0003c0005t0003g0285	6	368	0.0163	-6	c.371 others(25): Show c.3718-1516_3718-1511delAAAAAA		A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	29/35					INFO_REALIGN_3_PRIME	chr12	TogoVar
A2M_chr12_9062708_9120919	9094340	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02129.hp1 HG02683.hp1 others(4): Show HG00738.hp1 HG02129.hp1 HG02683.hp1 HG03688.hp1 HG04184.hp1 HG04199.hp2 NA19030.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0020 a0001c0001 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0015c0020t0002 a0001c0001t0001 a0001c0001t0002 a0015c0020t0002	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0002g0058 a0001c0001t0002g0069 a0001c0001t0002g0078 a0015c0020t0002g0080	7	332	0.0211	-6	c.212 others(23): Show c.2125+627_2125+632delATATAT		A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35						chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG02027.hp1 others(34): Show HG00558.hp1 HG00597.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18998.hp2 NA19010.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0000 a0011c0012t0000 a0001c0001t0000 a0011c0012t0000	a0001c0001t0000g0004 a0001c0001t0000g0014 a0001c0001t0000g0033 others(13): Show a0001c0001t0000g0004 a0001c0001t0000g0014 a0001c0001t0000g0033 a0001c0001t0000g0118 a0001c0001t0000g0119 a0001c0001t0000g0121 a0001c0001t0000g0129 a0001c0001t0000g0136 a0001c0001t0000g0138 a0001c0001t0000g0139 a0001c0001t0000g0141 a0001c0001t0000g0142 a0001c0001t0000g0144 a0001c0001t0000g0151 a0001c0001t0000g0153 a0011c0012t0000g0137	37	418	0.0885	-6	c.336 others(23): Show c.336-1303_336-1298delAAAAAA		A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4						chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33319628	GCCTGCA GCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18522.hp1 NA18906.hp2 HG02572.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0161 a0001c0001t0000g0162 a0001c0001t0000g0163 a0001c0001t0000g0161 a0001c0001t0000g0162 a0001c0001t0000g0163	3	418	0.0072	-6	c.23+ others(21): Show c.23+1442_23+1447delTGCAGG		A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	1/4						chr1	TogoVar
A4GALT_chr22_42687121_42725870	42688652	AGACGTG AGACGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(129): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG03130.hp1 HG03195.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0005 a0001c0001 a0001c0009 a0004c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0009t0013 a0004c0005t0010	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0087 others(127): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0357 a0001c0001t0007g0017 a0001c0001t0007g0027 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0016g0056 a0001c0001t0016g0072 a0001c0001t0019g0206 a0001c0001t0019g0324 a0001c0001t0020g0026 a0001c0001t0024g0252 a0001c0001t0025g0392 a0001c0001t0026g0171 a0001c0009t0013g0213 a0001c0009t0013g0364 a0001c0009t0013g0384 a0004c0005t0010g0086 a0004c0005t0010g0272 a0004c0005t0010g0273 a0004c0005t0010g0274 a0004c0005t0010g0275 a0004c0005t0010g0281	132	406	0.3251	-6	c.42 others(17): Show c.4232_*4237delCACGTC		A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding					3468		chr22	TogoVar
A4GALT_chr22_42687121_42725870	42698939	GCAACGT GCAACGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01934.hp1 HG01952.hp2 others(16): Show HG00323.hp1 HG01934.hp1 HG01952.hp2 HG02109.hp1 HG02148.hp2 HG02258.hp1 HG02572.hp1 HG02647.hp2 HG02738.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03831.hp2 HG03942.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0004 a0001c0001t0004 a0001c0011t0004	a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0246 others(16): Show a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0246 a0001c0001t0004g0250 a0001c0001t0004g0264 a0001c0001t0004g0268 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0393 a0001c0011t0004g0294	19	406	0.0468	-6	c.-18 others(25): Show c.-187-3314_-187-3309delACGTTG		A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2						chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02970.hp2 others(3): Show HG02258.hp2 HG02922.hp1 HG02970.hp2 HG03453.hp2 HG03942.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0296 a0002c0003t0001g0240 a0002c0003t0001g0285 others(3): Show a0001c0001t0004g0296 a0002c0003t0001g0240 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0341	6	406	0.0148	-6	c.-18 others(25): Show c.-187-7481_-187-7476delCACACA		A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2						chr22	TogoVar
A4GALT_chr22_42687121_42725870	42715853	ATGGAGT ATGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(241): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0002c0003 a0002c0008 a0003c0004 a0004c0005 a0006c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0009t0013 a0001c0011t0004 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0002c0008t0001 a0003c0004t0006 a0004c0005t0010 a0006c0013t0008	a0001c0001t0002g0003 a0001c0001t0002g0087 a0001c0001t0002g0091 others(237): Show a0001c0001t0002g0003 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0381 a0001c0001t0007g0017 a0001c0001t0007g0027 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0016g0056 a0001c0001t0016g0072 a0001c0001t0019g0206 a0001c0001t0020g0026 a0001c0001t0022g0214 a0001c0001t0026g0171 a0001c0002t0002g0196 a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0025 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0049 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0094 a0001c0002t0005g0089 a0001c0002t0005g0093 a0001c0002t0005g0096 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0100 a0001c0002t0005g0108 a0001c0002t0005g0109 a0001c0002t0005g0112 a0001c0002t0005g0123 a0001c0002t0005g0128 a0001c0002t0005g0137 a0001c0002t0005g0146 a0001c0002t0005g0148 a0001c0002t0005g0170 a0001c0002t0005g0183 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0005g0201 a0001c0002t0005g0202 a0001c0002t0005g0219 a0001c0002t0006g0004 a0001c0002t0006g0111 a0001c0002t0006g0147 a0001c0002t0006g0168 a0001c0002t0006g0209 a0001c0002t0006g0211 a0001c0002t0006g0215 a0001c0002t0006g0217 a0001c0002t0006g0221 a0001c0002t0006g0222 a0001c0002t0009g0117 a0001c0002t0012g0016 a0001c0002t0012g0022 a0001c0002t0012g0024 a0001c0002t0014g0023 a0001c0002t0014g0040 a0001c0002t0015g0018 a0001c0002t0015g0051 a0001c0009t0013g0213 a0001c0011t0004g0294 a0002c0003t0001g0002 a0002c0003t0001g0085 a0002c0003t0001g0116 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0136 a0002c0003t0001g0140 a0002c0003t0001g0156 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0182 a0002c0003t0001g0216 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0004g0134 a0002c0003t0008g0011 a0002c0003t0008g0041 a0002c0003t0008g0042 a0002c0003t0008g0048 a0002c0003t0008g0077 a0002c0008t0001g0212 a0002c0008t0001g0382 a0003c0004t0006g0223 a0003c0004t0006g0224 a0003c0004t0006g0225 a0003c0004t0006g0226 a0003c0004t0006g0227 a0003c0004t0006g0228 a0004c0005t0010g0086 a0006c0013t0008g0052	244	406	0.6010	-6	c.-18 others(25): Show c.-188+4938_-188+4943delACTCCA		A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2						chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722157	CAAAAAA CAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00621.hp1 others(59): Show HG00280.hp2 HG00423.hp2 HG00621.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01361.hp2 HG01884.hp1 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02129.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02735.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03239.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18951.hp1 NA18967.hp1 NA18973.hp1 NA18980.hp2 NA18981.hp1 NA18988.hp2 NA18993.hp1 NA18998.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0013	a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 others(8): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0002t0003 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0002c0003t0001 a0002c0003t0008 a0006c0013t0008	a0001c0001t0004g0288 a0001c0001t0007g0017 a0001c0001t0007g0027 others(58): Show a0001c0001t0004g0288 a0001c0001t0007g0017 a0001c0001t0007g0027 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0016g0056 a0001c0001t0020g0026 a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0025 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0053 a0001c0002t0003g0057 a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0084 a0001c0002t0012g0016 a0001c0002t0012g0022 a0001c0002t0012g0024 a0001c0002t0014g0023 a0001c0002t0014g0040 a0001c0002t0015g0051 a0002c0003t0001g0276 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0008g0041 a0006c0013t0008g0052	62	406	0.1527	-6	c.-15 others(17): Show c.-1554_-1549delTTTTTT		A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding					1288		chr22	TogoVar
AAAS_chr12_53302460_53326610	53304861	GTTTTTT GTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(267): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0003c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(152): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0003g0048 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0003t0001g0020 a0001c0003t0001g0045 a0001c0003t0001g0158 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0006t0001g0017 a0001c0006t0001g0075 a0001c0008t0001g0085 a0001c0008t0001g0144 a0003c0009t0001g0188 a0003c0009t0001g0189	270	330	0.8182	-6	c.26 others(17): Show c.2622_*2627delAAAAAA		AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding					2598		chr12	TogoVar
AAAS_chr12_53302460_53326610	53318239	TGTGTGC TGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02723.hp1 HG02723.hp2 HG03209.hp2 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 others(1): Show a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 a0002c0004t0002g0049	6	330	0.0182	-6	c.251 others(23): Show c.251+2320_251+2325delGCACAC		AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15						chr12	TogoVar
AACS_chr12_125060435_125148316	125062916	CGTGTGT CGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG01081.hp1 others(15): Show HG00558.hp2 HG00733.hp1 HG01081.hp1 HG01169.hp2 HG01175.hp2 HG01943.hp2 HG02080.hp1 HG02135.hp1 HG02809.hp2 HG02922.hp2 HG03139.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp2 NA18959.hp2 NA18980.hp2 NA18993.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0020 others(3): Show a0001c0001 a0001c0003 a0001c0020 a0002c0002 a0002c0021 a0002c0025	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0020t0002 a0002c0002t0001 a0002c0021t0001 a0002c0025t0001	a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0162 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0305 a0001c0001t0001g0352 a0001c0001t0002g0286 a0001c0001t0002g0347 a0001c0003t0001g0236 a0001c0020t0002g0173 a0002c0002t0001g0004 a0002c0021t0001g0026 a0002c0025t0001g0255	18	364	0.0495	-6	c.-26 others(17): Show c.-2668_-2663delGTGTGT		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding					2518		chr12	TogoVar
AACS_chr12_125060435_125148316	125094978	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp2 others(43): Show HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02922.hp1 HG03139.hp2 HG03486.hp1 HG03516.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18967.hp2 NA18975.hp2 NA18977.hp2 NA18989.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19060.hp1 NA19067.hp2 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0008 others(7): Show a0001c0001 a0001c0004 a0001c0008 a0001c0012 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0021 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0012t0004 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0005t0001 a0002c0006t0001 a0002c0021t0001 a0007c0016t0001	a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0093 others(43): Show a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0157 a0001c0001t0001g0239 a0001c0001t0001g0340 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0253 a0001c0001t0005g0110 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0237 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0012t0004g0244 a0001c0020t0002g0173 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0002g0359 a0002c0002t0006g0136 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0021t0001g0026 a0007c0016t0001g0032	46	364	0.1264	-6	c.570 others(23): Show c.570+3496_570+3501delGTGTGT		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110189	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01928.hp2 others(13): Show HG00558.hp1 HG00642.hp1 HG01928.hp2 HG01978.hp1 HG02273.hp2 HG02602.hp2 HG02723.hp2 HG03453.hp2 HG03491.hp2 HG03704.hp2 HG03831.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0007 a0002c0005t0001	a0001c0001t0001g0172 a0001c0001t0001g0258 a0001c0001t0001g0282 others(13): Show a0001c0001t0001g0172 a0001c0001t0001g0258 a0001c0001t0001g0282 a0001c0001t0003g0041 a0001c0001t0005g0048 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0346 a0002c0002t0001g0102 a0002c0002t0001g0132 a0002c0002t0001g0148 a0002c0002t0001g0267 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0005t0001g0020	16	364	0.0440	-6	c.915 others(23): Show c.915+2977_915+2982delGTGTGT		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125137734	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG06807.hp1 HG02280.hp1 HG03471.hp1 HG06807.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	3	364	0.0082	-6	c.188 others(23): Show c.1881+877_1881+882delTGTGTG		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151761204	GATATAT GATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG02273.hp1 NA18950.hp2 others(1): Show HG01981.hp1 HG02273.hp1 NA18950.hp2 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0049 a0002c0002t0024 a0001c0001t0049 a0002c0002t0024	a0001c0001t0049g0002 a0002c0002t0024g0004 a0002c0002t0024g0122 a0001c0001t0049g0002 a0002c0002t0024g0004 a0002c0002t0024g0122	4	428	0.0094	-6	c.36 others(17): Show c.3643_*3648delATATAT		AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5				3643	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL4_chr1_12639085_12672076	12643448	CTTTTTT CTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01169.hp2 HG02280.hp1 others(10): Show HG00323.hp2 HG01169.hp2 HG02280.hp1 HG02559.hp2 HG02717.hp2 HG02895.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 others(10): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0118	13	310	0.0419	-6	c.-10 others(17): Show c.-1098_-1093delTTTTTT		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding					636		chr1	TogoVar
AADAT_chr4_170055222_170094956	170085914	TAAGATA TAAGATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02109.hp1 others(3): Show HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0110 a0001c0001t0001g0111 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	6	378	0.0159	-6	c.369 others(23): Show c.369+1196_369+1201delTATCTT		AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	3/12						chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222238	GCGCGCA GCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02965.hp1 HG03831.hp1 others(5): Show HG00140.hp1 HG02965.hp1 HG03831.hp1 HG04228.hp2 NA18972.hp2 NA18977.hp1 NA18988.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0286 a0001c0001t0001g0319 a0001c0001t0001g0338 others(5): Show a0001c0001t0001g0286 a0001c0001t0001g0319 a0001c0001t0001g0338 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0004t0001g0266 a0001c0004t0001g0331 a0001c0004t0001g0332	8	380	0.0211	-6	c.535 others(23): Show c.535+9570_535+9575delTGCGCG		AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9						chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222240	GCGCACA GCGCACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01346.hp2 others(20): Show HG00323.hp1 HG01074.hp2 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG02015.hp1 HG02148.hp1 HG02280.hp2 HG02572.hp2 HG02738.hp1 HG02886.hp1 HG03195.hp2 HG03669.hp2 NA18946.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18990.hp2 NA19007.hp2 NA19057.hp1 NA19082.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0278 a0001c0001t0001g0283 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0002g0321 a0001c0003t0001g0002 a0001c0003t0001g0019 a0001c0003t0001g0020	23	380	0.0605	-6	c.535 others(23): Show c.535+9568_535+9573delTGTGCG		AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9						chr15	TogoVar
AAK1_chr2_69452997_69648739	69500664	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02109.hp1 HG02572.hp2 others(6): Show HG02080.hp1 HG02109.hp1 HG02572.hp2 HG03471.hp2 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA19079.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0004c0013 a0001c0001 a0004c0012 a0004c0013	a0001c0001t0007 a0001c0001t0045 a0001c0001t0058 others(5): Show a0001c0001t0007 a0001c0001t0045 a0001c0001t0058 a0001c0001t0083 a0001c0001t0137 a0001c0001t0143 a0004c0012t0036 a0004c0013t0043	a0001c0001t0007g0086 a0001c0001t0007g0099 a0001c0001t0045g0287 others(6): Show a0001c0001t0007g0086 a0001c0001t0007g0099 a0001c0001t0045g0287 a0001c0001t0058g0092 a0001c0001t0083g0016 a0001c0001t0137g0247 a0001c0001t0143g0198 a0004c0012t0036g0283 a0004c0013t0043g0284	9	298	0.0302	-6	c.227 others(25): Show c.2270-4590_2270-4585delATATAT		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21						chr2	TogoVar
AAK1_chr2_69452997_69648739	69559294	ACACACT ACACACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01891.hp2 HG02132.hp2 others(25): Show HG00099.hp2 HG01891.hp2 HG02132.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03491.hp2 HG03540.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18950.hp2 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19065.hp2 NA19240.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0003c0014 a0007c0017	a0001c0001t0037 a0001c0001t0077 a0001c0003t0012 others(17): Show a0001c0001t0037 a0001c0001t0077 a0001c0003t0012 a0001c0003t0026 a0001c0003t0030 a0001c0003t0046 a0001c0003t0080 a0001c0003t0082 a0001c0003t0108 a0001c0003t0109 a0001c0003t0142 a0001c0004t0002 a0001c0004t0017 a0001c0004t0067 a0001c0004t0068 a0001c0004t0070 a0001c0004t0071 a0001c0004t0072 a0003c0014t0025 a0007c0017t0066	a0001c0001t0037g0009 a0001c0001t0077g0072 a0001c0003t0012g0088 others(25): Show a0001c0001t0037g0009 a0001c0001t0077g0072 a0001c0003t0012g0088 a0001c0003t0012g0095 a0001c0003t0012g0096 a0001c0003t0012g0097 a0001c0003t0026g0014 a0001c0003t0026g0015 a0001c0003t0030g0168 a0001c0003t0030g0169 a0001c0003t0046g0100 a0001c0003t0080g0094 a0001c0003t0082g0098 a0001c0003t0108g0138 a0001c0003t0109g0166 a0001c0003t0142g0214 a0001c0004t0002g0137 a0001c0004t0017g0073 a0001c0004t0017g0075 a0001c0004t0017g0078 a0001c0004t0067g0077 a0001c0004t0068g0079 a0001c0004t0070g0071 a0001c0004t0071g0074 a0001c0004t0072g0093 a0003c0014t0025g0285 a0003c0014t0025g0286 a0007c0017t0066g0076	28	298	0.0940	-6	c.164 others(23): Show c.164-2322_164-2317delAGTGTG		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21						chr2	TogoVar
AAK1_chr2_69452997_69648739	69573994	CAAAATA CAAAATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01243.hp1 others(67): Show HG00544.hp1 HG00597.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02148.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02723.hp2 HG02738.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18956.hp1 NA18963.hp2 NA18980.hp1 NA18992.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0002c0005 a0002c0016 a0009c0025	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(37): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0034 a0001c0001t0083 a0001c0001t0101 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0124 a0001c0001t0126 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0143 a0001c0001t0144 a0001c0001t0147 a0001c0001t0149 a0001c0003t0108 a0001c0003t0142 a0001c0004t0146 a0001c0004t0153 a0001c0008t0135 a0002c0002t0003 a0002c0002t0005 a0002c0002t0019 a0002c0002t0033 a0002c0002t0039 a0002c0002t0115 a0002c0005t0122 a0002c0005t0123 a0002c0005t0150 a0002c0016t0134 a0009c0025t0003	a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(67): Show a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0254 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0213 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0011g0192 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0011g0197 a0001c0001t0011g0201 a0001c0001t0014g0060 a0001c0001t0014g0066 a0001c0001t0020g0193 a0001c0001t0020g0202 a0001c0001t0020g0208 a0001c0001t0034g0267 a0001c0001t0083g0016 a0001c0001t0101g0118 a0001c0001t0116g0185 a0001c0001t0117g0189 a0001c0001t0118g0184 a0001c0001t0119g0181 a0001c0001t0120g0187 a0001c0001t0121g0186 a0001c0001t0124g0188 a0001c0001t0126g0219 a0001c0001t0136g0212 a0001c0001t0137g0247 a0001c0001t0138g0209 a0001c0001t0139g0231 a0001c0001t0143g0198 a0001c0001t0144g0232 a0001c0001t0147g0274 a0001c0001t0149g0280 a0001c0003t0108g0138 a0001c0003t0142g0214 a0001c0004t0146g0273 a0001c0004t0153g0296 a0001c0008t0135g0262 a0002c0002t0003g0215 a0002c0002t0005g0256 a0002c0002t0019g0159 a0002c0002t0033g0255 a0002c0002t0039g0004 a0002c0002t0115g0180 a0002c0005t0122g0182 a0002c0005t0123g0183 a0002c0005t0150g0281 a0002c0016t0134g0272 a0009c0025t0003g0260	70	298	0.2349	-6	c.164 others(25): Show c.164-17022_164-17017delTATTTT		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21						chr2	TogoVar
AAK1_chr2_69452997_69648739	69575308	ACCAGGG ACCAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(103): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02572.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp2 NA18983.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0026 a0002c0002 a0002c0005 a0002c0016 a0002c0019 a0002c0024 a0003c0014 a0004c0012 a0004c0013 a0006c0015 a0007c0017	a0001c0001t0007 a0001c0001t0008 a0001c0001t0037 others(61): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0037 a0001c0001t0056 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0102 a0001c0003t0081 a0001c0004t0014 a0001c0004t0017 a0001c0004t0067 a0001c0004t0068 a0001c0004t0070 a0001c0004t0071 a0001c0006t0016 a0001c0009t0141 a0001c0026t0152 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0002t0023 a0002c0002t0033 a0002c0002t0038 a0002c0002t0044 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0059 a0002c0002t0062 a0002c0002t0085 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0131 a0002c0002t0132 a0002c0002t0133 a0002c0002t0145 a0002c0002t0154 a0002c0002t0155 a0002c0005t0040 a0002c0016t0103 a0002c0019t0065 a0002c0024t0060 a0003c0014t0025 a0004c0012t0061 a0004c0013t0107 a0006c0015t0001 a0006c0015t0013 a0007c0017t0066	a0001c0001t0007g0027 a0001c0001t0007g0049 a0001c0001t0007g0081 others(103): Show a0001c0001t0007g0027 a0001c0001t0007g0049 a0001c0001t0007g0081 a0001c0001t0008g0022 a0001c0001t0037g0009 a0001c0001t0056g0058 a0001c0001t0074g0048 a0001c0001t0075g0020 a0001c0001t0076g0037 a0001c0001t0077g0072 a0001c0001t0078g0055 a0001c0001t0102g0113 a0001c0003t0081g0080 a0001c0004t0014g0063 a0001c0004t0017g0073 a0001c0004t0017g0075 a0001c0004t0017g0078 a0001c0004t0067g0077 a0001c0004t0068g0079 a0001c0004t0070g0071 a0001c0004t0071g0074 a0001c0006t0016g0017 a0001c0009t0141g0191 a0001c0026t0152g0295 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0003g0199 a0002c0002t0003g0203 a0002c0002t0003g0227 a0002c0002t0003g0238 a0002c0002t0003g0242 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0263 a0002c0002t0005g0226 a0002c0002t0005g0228 a0002c0002t0005g0229 a0002c0002t0005g0230 a0002c0002t0005g0234 a0002c0002t0005g0235 a0002c0002t0005g0239 a0002c0002t0005g0240 a0002c0002t0005g0248 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0007g0018 a0002c0002t0008g0050 a0002c0002t0013g0110 a0002c0002t0013g0112 a0002c0002t0015g0002 a0002c0002t0015g0003 a0002c0002t0015g0005 a0002c0002t0019g0143 a0002c0002t0023g0026 a0002c0002t0023g0036 a0002c0002t0033g0200 a0002c0002t0038g0001 a0002c0002t0044g0041 a0002c0002t0047g0053 a0002c0002t0048g0039 a0002c0002t0049g0047 a0002c0002t0050g0035 a0002c0002t0051g0045 a0002c0002t0052g0023 a0002c0002t0053g0056 a0002c0002t0054g0030 a0002c0002t0055g0021 a0002c0002t0059g0032 a0002c0002t0062g0054 a0002c0002t0085g0109 a0002c0002t0127g0249 a0002c0002t0128g0237 a0002c0002t0129g0241 a0002c0002t0130g0243 a0002c0002t0131g0211 a0002c0002t0132g0236 a0002c0002t0133g0210 a0002c0002t0145g0275 a0002c0002t0154g0297 a0002c0002t0155g0298 a0002c0005t0040g0006 a0002c0016t0103g0106 a0002c0019t0065g0062 a0002c0024t0060g0031 a0003c0014t0025g0285 a0003c0014t0025g0286 a0004c0012t0061g0067 a0004c0013t0107g0107 a0006c0015t0001g0024 a0006c0015t0013g0111 a0007c0017t0066g0076	106	298	0.3557	-6	c.164 others(25): Show c.164-18336_164-18331delCCCTGG		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21						chr2	TogoVar
AAK1_chr2_69452997_69648739	69607046	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG01928.hp2 others(16): Show HG01243.hp2 HG01891.hp2 HG01928.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG04115.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0007 a0001c0009 others(3): Show a0001c0001 a0001c0007 a0001c0009 a0003c0014 a0003c0021 a0004c0013	a0001c0001t0014 a0001c0001t0021 a0001c0001t0045 others(14): Show a0001c0001t0014 a0001c0001t0021 a0001c0001t0045 a0001c0001t0057 a0001c0001t0063 a0001c0001t0104 a0001c0001t0140 a0001c0007t0021 a0001c0007t0034 a0001c0007t0035 a0001c0007t0148 a0001c0009t0035 a0001c0009t0125 a0001c0009t0141 a0003c0014t0025 a0003c0021t0151 a0004c0013t0043	a0001c0001t0014g0059 a0001c0001t0021g0278 a0001c0001t0045g0287 others(16): Show a0001c0001t0014g0059 a0001c0001t0021g0278 a0001c0001t0045g0287 a0001c0001t0057g0291 a0001c0001t0063g0288 a0001c0001t0104g0292 a0001c0001t0140g0269 a0001c0007t0021g0276 a0001c0007t0021g0279 a0001c0007t0034g0270 a0001c0007t0035g0271 a0001c0007t0148g0277 a0001c0009t0035g0190 a0001c0009t0125g0179 a0001c0009t0141g0191 a0003c0014t0025g0285 a0003c0014t0025g0286 a0003c0021t0151g0282 a0004c0013t0043g0284	19	298	0.0638	-6	c.163 others(25): Show c.163+35826_163+35831delTTTTTT		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21						chr2	TogoVar
AAK1_chr2_69452997_69648739	69640049	ACACACT ACACACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01884.hp2 HG03139.hp1 others(2): Show HG00099.hp2 HG01884.hp2 HG03139.hp1 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0016	a0001c0001t0077 a0001c0004t0070 a0001c0006t0041 others(2): Show a0001c0001t0077 a0001c0004t0070 a0001c0006t0041 a0001c0006t0042 a0002c0016t0103	a0001c0001t0077g0072 a0001c0004t0070g0071 a0001c0006t0041g0008 others(2): Show a0001c0001t0077g0072 a0001c0004t0070g0071 a0001c0006t0041g0008 a0001c0006t0042g0007 a0002c0016t0103g0106	5	298	0.0168	-6	c.163 others(23): Show c.163+2823_163+2828delAGTGTG		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21						chr2	TogoVar
AAMDC_chr11_77816144_77877352	77827103	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(161): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001	a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 others(157): Show a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0109 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353 a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0004t0001g0025	164	382	0.4293	-6	c.-19 others(23): Show c.-19+5871_-19+5876delAAAAAA		AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77830987	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(51): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01256.hp2 HG01433.hp1 HG01993.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02273.hp1 HG02523.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0013 others(49): Show a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0004t0001g0025	54	382	0.1414	-6	c.-19 others(23): Show c.-19+9764_-19+9769delAAAAAA		AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77832949	ATATGTG ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG00733.hp2 others(42): Show HG00099.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG02027.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp1 HG02922.hp1 HG03017.hp2 HG03209.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA19074.hp1 NA19085.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0224 a0001c0002t0002g0232 others(41): Show a0001c0002t0002g0007 a0001c0002t0002g0224 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0238 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353	45	382	0.1178	-6	c.-18 others(23): Show c.-18-9528_-18-9523delATGTGT		AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77832951	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp1 HG01433.hp1 others(13): Show HG00544.hp2 HG01081.hp1 HG01433.hp1 HG01884.hp1 HG02056.hp1 HG02145.hp1 HG02280.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 NA19068.hp2 NA19078.hp2 NA19083.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0104 a0001c0001t0001g0133 a0001c0001t0001g0149 others(13): Show a0001c0001t0001g0104 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0300 a0001c0001t0001g0356 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0085 a0002c0003t0001g0013	16	382	0.0419	-6	c.-18 others(23): Show c.-18-9486_-18-9481delGTGTGT		AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77850785	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(217): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0095 others(213): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0004t0001g0025 a0003c0005t0001g0112	220	382	0.5759	-6	c.132 others(23): Show c.132+8173_132+8178delCACACA		AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
AAR2_chr20_36231478_36261933	36232816	CCTCTCT CCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03225.hp1 NA18522.hp2 HG02630.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0033 a0001c0004t0005g0146 a0001c0004t0005g0033 a0001c0004t0005g0146	3	298	0.0101	-6	c.-37 others(17): Show c.-3735_-3730delCTCTCT		AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding					3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36237750	GTATTAT GTATTAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG01361.hp1 others(23): Show HG00642.hp1 HG01192.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03834.hp2 NA18906.hp1 NA18956.hp2 NA18959.hp1 NA18966.hp1 NA18986.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0004t0005	a0001c0001t0001g0012 a0001c0001t0001g0143 a0001c0001t0001g0144 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0009g0151 a0001c0002t0002g0031 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0004g0030 a0001c0004t0005g0146	26	298	0.0873	-6	c.-49 others(23): Show c.-49+1291_-49+1296delATTATT		AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
AAR2_chr20_36231478_36261933	36242362	CTTTTGT CTTTTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02723.hp1 NA19043.hp1 HG01081.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0181 a0001c0002t0001g0035 a0001c0002t0001g0181	3	298	0.0101	-6	c.757 others(23): Show c.757+1739_757+1744delTTTGTT		AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
AAR2_chr20_36231478_36261933	36242364	TTTGTTG TTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01192.hp1 others(6): Show HG01070.hp1 HG01071.hp2 HG01192.hp1 HG02723.hp2 HG02818.hp1 HG03453.hp2 HG03834.hp2 NA18747.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0095 others(6): Show a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0009g0151	9	298	0.0302	-6	c.757 others(23): Show c.757+1779_757+1784delTTGTTG		AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
AARD_chr8_116933207_116949487	116938485	AGGCGGC AGGCGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp1 HG02647.hp1 HG02809.hp1 others(1): Show HG02257.hp1 HG02647.hp1 HG02809.hp1 HG03041.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0007 a0005c0005t0007g0007	4	442	0.0091	-6	c.259 others(13): Show c.259_264delGCGGCG	p.Ala others(11): Show p.Ala87_Ala88del	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/2	296/2291	259/468	87/155		INFO_REALIGN_3_PRIME	chr8	TogoVar
AARS1_chr16_70247298_70294506	70248771	CTTTTTT CTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02451.hp1 others(10): Show HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG03139.hp2 HG03540.hp2 HG03927.hp2 NA18955.hp2 NA18970.hp1 NA18980.hp1 NA18984.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0089 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0137 a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0001g0247 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0004g0149 a0001c0002t0004g0150	13	362	0.0359	-6	c.39 others(17): Show c.3944_*3949delAAAAAA		AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding					3526		chr16	TogoVar
AARS1_chr16_70247298_70294506	70250123	AAATAAT AAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(87): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02559.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0007 a0001c0013 others(1): Show a0001c0001 a0001c0007 a0001c0013 a0010c0014	a0001c0001t0001 a0001c0001t0007 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0007t0001 a0001c0013t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0040 others(87): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0007g0334 a0001c0007t0001g0070 a0001c0007t0001g0092 a0001c0013t0001g0086 a0010c0014t0001g0110	90	362	0.2486	-6	c.25 others(17): Show c.2592_*2597delATTATT		AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding					2174		chr16	TogoVar
AARS1_chr16_70247298_70294506	70250683	AAAAAAG AAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02559.hp2 others(17): Show HG01433.hp2 HG02109.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 others(17): Show a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	20	362	0.0553	-6	c.20 others(17): Show c.2032_*2037delCTTTTT		AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding					1614		chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	GACACAC GACACAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02683.hp1 HG04204.hp1 others(1): Show HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 others(1): Show a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	4	362	0.0111	-6	c.480 others(21): Show c.480-923_480-918delGTGTGT		AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20						chr16	TogoVar
AARSD1_chr17_42945526_42969454	42964274	CAGCCCT CAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0008 others(8): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0009 a0007c0011 a0008c0007	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0010t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0009t0001 a0007c0011t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(151): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0155 a0001c0008t0001g0081 a0001c0010t0001g0068 a0002c0004t0001g0038 a0002c0004t0001g0145 a0003c0003t0001g0037 a0003c0003t0001g0144 a0004c0005t0001g0119 a0004c0005t0001g0150 a0005c0006t0001g0050 a0006c0009t0001g0082 a0007c0011t0001g0097 a0008c0007t0001g0065	323	324	0.9969	-6	c.40- others(17): Show c.40-43_40-38delAGGGCT		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	1/11						chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967284	TAATATA TAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 NA18522.hp2 NA20129.hp2 HG02615.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0001g0005 a0001c0001t0001g0072	3	324	0.0093	-6	c.-28 others(17): Show c.-2850_-2845delTATATT		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding					2831		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967307	TTATATA TTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 NA18522.hp2 NA20129.hp2 HG02615.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0001g0005 a0001c0001t0001g0072	3	324	0.0093	-6	c.-28 others(17): Show c.-2873_-2868delTATATA		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding					2854		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967318	ATAATAT ATAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG03490.hp2 HG03669.hp2 others(1): Show HG00140.hp2 HG03490.hp2 HG03669.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0074	4	324	0.0124	-6	c.-28 others(17): Show c.-2884_-2879delATATTA		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding					2865		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967402	AATATAT AATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp1 others(25): Show HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG01168.hp2 HG02027.hp2 HG02071.hp2 HG02135.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG04115.hp1 NA18939.hp1 NA18944.hp2 NA18948.hp1 NA18953.hp2 NA18983.hp2 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19009.hp1 NA19009.hp2 NA19057.hp1 NA19078.hp2 NA19081.hp1 NA19086.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0001g0149	28	324	0.0864	-6	c.-29 others(17): Show c.-2968_-2963delATATAT		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding					2949		chr17	TogoVar
AASDH_chr4_56333290_56392491	56341389	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(35): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG01069.hp2 HG01109.hp1 HG01516.hp1 HG02056.hp1 HG02129.hp1 HG02293.hp2 HG02647.hp1 HG03471.hp2 HG03688.hp1 HG03834.hp1 NA18906.hp1 NA18944.hp2 NA18947.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18998.hp2 NA19001.hp2 NA19009.hp2 NA19011.hp2 NA19058.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA21309.hp2	a0001 a0015 a0001 a0015	a0001c0005 a0015c0021 a0001c0005 a0015c0021	a0001c0005t0001 a0001c0005t0005 a0015c0021t0001 a0001c0005t0001 a0001c0005t0005 a0015c0021t0001	a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(32): Show a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 a0001c0005t0001g0058 a0001c0005t0001g0242 a0001c0005t0001g0285 a0001c0005t0001g0298 a0001c0005t0001g0299 a0001c0005t0001g0300 a0001c0005t0001g0301 a0001c0005t0001g0302 a0001c0005t0001g0303 a0001c0005t0001g0304 a0001c0005t0001g0305 a0001c0005t0001g0306 a0001c0005t0001g0307 a0001c0005t0001g0308 a0001c0005t0001g0309 a0001c0005t0001g0310 a0001c0005t0001g0311 a0001c0005t0001g0312 a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0005t0001g0315 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0001c0005t0001g0322 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0005g0030 a0015c0021t0001g0325	38	382	0.0995	-6	c.290 others(25): Show c.2907+1440_2907+1445delAAAAAA		AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14						chr4	TogoVar
AASDH_chr4_56333290_56392491	56386799	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp1 HG02896.hp2 others(3): Show HG01167.hp2 HG02809.hp1 HG02896.hp2 HG03579.hp2 NA18522.hp2 NA20129.hp1	a0003 a0018 a0003 a0018	a0003c0003 a0018c0023 a0003c0003 a0018c0023	a0003c0003t0002 a0018c0023t0002 a0003c0003t0002 a0018c0023t0002	a0003c0003t0002g0003 a0003c0003t0002g0042 a0018c0023t0002g0043 a0003c0003t0002g0003 a0003c0003t0002g0042 a0018c0023t0002g0043	6	382	0.0157	-6	c.-43 others(21): Show c.-43+557_-43+562delTTTTTT		AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	1/14						chr4	TogoVar

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