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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Select column to sort.

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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	chr	external
ATP6V1C2_chr2_10716630_10790110	10772538	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG02055.hp2 HG02486.hp2 others(6): Show HG00639.hp2 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02717.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0018	a0001c0001t0013 a0002c0002t0001 a0002c0002t0004 others(3): Show a0001c0001t0013 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0005t0008 a0002c0018t0013	a0001c0001t0013g0075 a0002c0002t0001g0111 a0002c0002t0004g0123 others(6): Show a0001c0001t0013g0075 a0002c0002t0001g0111 a0002c0002t0004g0123 a0002c0002t0004g0214 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0008g0242 a0002c0005t0008g0158 a0002c0018t0013g0217	9	354	0.0254	0	c.570 others(5): Show c.570-4G>A		ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	7/13				chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10777578	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0095 a0002c0004t0005g0095	1	354	0.0028	0	c.826 others(5): Show c.826-7C>A		ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	10/13				chr2	TogoVar
ATP6V1D_chr14_67332872_67364804	67340525	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(230): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19059.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0017 others(140): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0003g0177 a0001c0001t0003g0189 a0001c0001t0004g0178 a0001c0001t0005g0204 a0001c0002t0001g0007 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0186	233	348	0.6695	-1	c.524 others(6): Show c.524-8delT		ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	7/8				chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17594620	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(148): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0003c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0002t0006 a0001c0002t0009 a0001c0006t0012 a0003c0007t0002 a0004c0008t0002	a0001c0001t0001g0051 a0001c0001t0001g0141 a0001c0001t0001g0142 others(133): Show a0001c0001t0001g0051 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0320 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0259 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0319 a0001c0001t0004g0010 a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0305 a0001c0001t0005g0005 a0001c0001t0005g0050 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0138 a0001c0001t0005g0149 a0001c0001t0005g0188 a0001c0001t0008g0008 a0001c0001t0008g0100 a0001c0001t0008g0167 a0001c0001t0014g0324 a0001c0002t0006g0019 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0006g0180 a0001c0002t0006g0182 a0001c0002t0009g0204 a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0002t0009g0285 a0001c0006t0012g0304 a0003c0007t0002g0233 a0004c0008t0002g0193	151	370	0.4081	-1	c.531 others(6): Show c.531-5delT		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	7/8				chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17598196	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02683.hp2 NA19240.hp1 HG02683.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0054 a0001c0005t0003g0307 a0001c0005t0001g0054 a0001c0005t0003g0307	2	370	0.0054	0	c.528 others(3): Show c.528C>T	p.Asp others(6): Show p.Asp176Asp	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	7/9	642/1333	528/681	176/226	chr22	TogoVar
ATP6V1G1_chr9_114582769_114603879	114592658	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 NA18612.hp1 NA18949.hp2 others(7): Show HG00438.hp1 NA18612.hp1 NA18949.hp2 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18998.hp1 NA19009.hp1 NA19062.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0177 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0177 a0001c0001t0002g0181	10	420	0.0238	0	c.183 others(5): Show c.183+6G>A		ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	2/2				chr9	TogoVar
ATP6V1G2_chr6_31539444_31551608	31546470	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00738.hp2 others(23): Show HG00099.hp2 HG00280.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01243.hp2 HG01433.hp1 HG02080.hp1 HG02129.hp1 HG02622.hp2 HG02735.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA19005.hp2 NA19072.hp1 NA19072.hp2 NA19080.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	26	435	0.0598	0	c.82+ others(4): Show c.82+8T>C		ATP6V1G2	ENSG00000213760.11	transcript	ENST00000303892.10	protein_coding	1/2				chr6	TogoVar
ATP6V1H_chr8_53710543_53848245	53811223	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	286	0.0035	0	c.526 others(5): Show c.526-6T>G		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	6/13				chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53832978	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(247): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.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 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0002c0004t0002 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0222 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0005g0129 a0001c0001t0006g0200 a0001c0002t0001g0172 a0001c0003t0001g0008 a0001c0006t0001g0281 a0002c0004t0002g0133 a0003c0005t0001g0206	250	286	0.8741	0	c.216 others(5): Show c.216+6G>C		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	3/13				chr8	TogoVar
ATP7A_chrX_77905693_78055395	77988739	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG03195.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0124 a0001c0001t0008g0123 a0001c0001t0008g0124	2	233	0.0086	0	c.610 others(5): Show c.610+8G>A		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	3/22				chrX	TogoVar
ATP7A_chrX_77905693_78055395	78031400	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19012.hp1 NA19012.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0089 a0010c0012t0001g0089	1	233	0.0043	0	c.311 others(4): Show c.3112G>A	p.Val others(7): Show p.Val1038Ile	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	16/23	3276/8492	3112/4503	1038/1500	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78043317	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0078 a0008c0009t0003g0078	1	233	0.0043	0	c.400 others(4): Show c.4006A>G	p.Asn others(7): Show p.Asn1336Asp	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	21/23	4170/8492	4006/4503	1336/1500	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51937470	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(152): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18978.hp1 NA18979.hp2 NA18984.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp2 NA19080.hp2 NA19082.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0008 a0009 a0011 a0012 a0013 a0014 a0017 a0018	a0001c0001 a0002c0002 a0002c0011 others(18): Show a0001c0001 a0002c0002 a0002c0011 a0002c0014 a0002c0019 a0002c0020 a0002c0023 a0003c0003 a0003c0005 a0003c0015 a0003c0032 a0003c0034 a0005c0026 a0008c0010 a0009c0016 a0011c0021 a0012c0018 a0013c0022 a0014c0024 a0017c0033 a0018c0017	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 others(34): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0020 a0002c0002t0023 a0002c0011t0010 a0002c0011t0018 a0002c0014t0002 a0002c0019t0002 a0002c0020t0002 a0002c0023t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0009 a0003c0003t0013 a0003c0003t0016 a0003c0003t0021 a0003c0005t0004 a0003c0005t0005 a0003c0005t0010 a0003c0005t0012 a0003c0015t0005 a0003c0032t0005 a0003c0034t0005 a0005c0026t0004 a0008c0010t0006 a0009c0016t0005 a0011c0021t0002 a0012c0018t0002 a0013c0022t0017 a0014c0024t0005 a0017c0033t0005 a0018c0017t0002	a0001c0001t0001g0195 a0001c0001t0001g0227 a0002c0002t0002g0002 others(142): Show a0001c0001t0001g0195 a0001c0001t0001g0227 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0038 a0002c0002t0002g0041 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0007g0039 a0002c0002t0007g0073 a0002c0002t0007g0094 a0002c0002t0007g0095 a0002c0002t0007g0096 a0002c0002t0007g0097 a0002c0002t0007g0098 a0002c0002t0007g0099 a0002c0002t0008g0267 a0002c0002t0008g0276 a0002c0002t0009g0010 a0002c0002t0020g0054 a0002c0002t0023g0086 a0002c0011t0010g0080 a0002c0011t0010g0082 a0002c0011t0018g0035 a0002c0014t0002g0049 a0002c0014t0002g0052 a0002c0019t0002g0101 a0002c0020t0002g0051 a0002c0023t0002g0089 a0003c0003t0004g0037 a0003c0003t0004g0125 a0003c0003t0004g0130 a0003c0003t0004g0131 a0003c0003t0004g0132 a0003c0003t0004g0133 a0003c0003t0004g0134 a0003c0003t0004g0137 a0003c0003t0004g0138 a0003c0003t0004g0139 a0003c0003t0004g0140 a0003c0003t0004g0141 a0003c0003t0005g0018 a0003c0003t0005g0157 a0003c0003t0005g0260 a0003c0003t0005g0274 a0003c0003t0005g0275 a0003c0003t0006g0013 a0003c0003t0006g0164 a0003c0003t0006g0165 a0003c0003t0006g0166 a0003c0003t0006g0167 a0003c0003t0006g0181 a0003c0003t0006g0182 a0003c0003t0006g0183 a0003c0003t0006g0184 a0003c0003t0006g0258 a0003c0003t0006g0259 a0003c0003t0006g0261 a0003c0003t0006g0271 a0003c0003t0006g0278 a0003c0003t0008g0017 a0003c0003t0008g0228 a0003c0003t0008g0236 a0003c0003t0008g0238 a0003c0003t0009g0248 a0003c0003t0009g0251 a0003c0003t0013g0155 a0003c0003t0013g0156 a0003c0003t0016g0127 a0003c0003t0021g0146 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0024 a0003c0005t0004g0025 a0003c0005t0004g0026 a0003c0005t0004g0029 a0003c0005t0004g0074 a0003c0005t0005g0253 a0003c0005t0010g0020 a0003c0005t0012g0021 a0003c0005t0012g0058 a0003c0015t0005g0268 a0003c0015t0005g0273 a0003c0032t0005g0272 a0003c0034t0005g0279 a0005c0026t0004g0120 a0008c0010t0006g0254 a0009c0016t0005g0269 a0009c0016t0005g0270 a0011c0021t0002g0107 a0012c0018t0002g0084 a0013c0022t0017g0034 a0014c0024t0005g0169 a0017c0033t0005g0240 a0018c0017t0002g0036	155	302	0.5133	0	c.390 others(6): Show c.3903+6C>T		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	18/20				chr13	TogoVar
ATP7B_chr13_51927669_52016450	51960326	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 NA18942.hp2 NA18954.hp2 others(2): Show HG02071.hp1 NA18942.hp2 NA18954.hp2 NA18967.hp1 NA18979.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0004 a0004c0004t0003g0040 a0004c0004t0003g0057 others(1): Show a0004c0004t0003g0004 a0004c0004t0003g0040 a0004c0004t0003g0057 a0004c0004t0003g0075	5	302	0.0166	0	c.194 others(6): Show c.1947-4C>T		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	6/20				chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42480282	CAGATGAT others(9892): Show CAGATGATTATTATGTTAAAGCAAACTATTGGCATTTTATGAAGTTATAA AGTGTATTCAGTGTGTCCTCTTTTAGCTGTACACGTATGAAAGAAATATT CTCTCAACATTTCCAACATTTATTCATATTTTCTTGGAAGCAAATATAGG GTTGACATTCATTAACAGTTTGTAAAAGTCTTTTCAAAGCCAAACATCTG CTTGGCATCCAATGGTGTTCACAAATTTTTTTCCTTAAAGGAATGTCTGT TGAGCATTTATTAGCTTCATTTGTGCTTTATGACTACTTTTTAAGTAGAA CATATATTTAGAGAAATTCTTAAAGCTAAAGACAATCTCTAAAGATTTAA GAAGTAGATGTGCCTTTATTTAATGCACTCATGCTATGACAGCAAATATT CAGTGTCCCTTTAGACTTCTTGCAGGACCCCTTGATAGGAGTAAGGTGAA AGGTTTTGCCTGGAATGCCACTCCCAAATGACAACACTCACTGAAGTCAA GTGTTTTTTTATACACTATGAGGAAAATGGCCTAAAAGGGGGTTAAACTT TGATTAGAGATGTTGCAAGTAGGAAAAAATGCTTACTTCAATTTAACTTT TGCTTTTCAGAAGACATGAGTACATAAATTATGTAGAACGATGATTACTA GACAGTCTAAAAGCTGGAGGCTCTAAGCCAATTTTCAACCAACTGTCACA GAACATAAGTTTCAAAATATGTTTAAACTAAACTGACAACTACAGAAAAA TGTAAAATTCTTTGAAAGGCTGGGTTATGTGAACTGATGAGGACCTCAGA AACCACATGCTATTTAACACACAGTAATACTTCACTGCAACATTCCCACT CTCTTCTGGAGGGAATATTAAAAGAGGTAGAACAGATGCTTCCCCAAATT AAGCTGATCCCAGCAGTAGAAAGACTGTTCCCAGCAGAGTGGCCAACAGA AGGAAGGTCCATCCACAACCTAAAAGGGCTATGAGAGGTCCTCTGGCCCA GCAGCTTTCCAACCAGGACAAGATAACCCAGGAAGGGGGCATGTGTGTAT TTCCCACCCTGCTATGACGAAGCTGGTCCACTTTTATTTGCTTCCTATAT CTGGGTTCCCTGGAAGATAGGAATCACTGATATTCCAATCTCTTCATTTT GTAGGTCACAAAACCAAGGCCAGAGAGATTCCATCAGATACCCAAACTGC CAAATCAGTAGAGCTAGAACAAGCATTCTGTGAATCTCTAGATAAAATGC TTTTATACCAATTATACAGACTGTAGGACCAGGGGGCATAAAGCACTGGT CCCTGAGACTAAGAATTACTTATTTAGTACAGTTACTCCCTGGGATAGTG CTTGATTTCAGCTGTATCCATAAATCTCCATGAGTCTTAGAACAAGCTTT TTTCCCTACGTCTACCTCTCCAAGGAGTTTCAGTGAGTCTGTAAAACCCC TGAAGGGCTTCATGAAATTTTACATGTTTGTGTGCATGTGTACTTCTTCT GGAAGGAATGGTCTATAACTTTCATTTATTCTCCAAAAGTATCCGTGATC ACACCAAATCATGAGAATCAGTGGACTTGTGTGAGGGAGTAGAGGGGAAG AAGAACCATAAAGGAGCAGTTTATAACTGGGAAAATGAATCAGAAACTAT CTATAAATTAGATGCATTCAGGTTATGCAGGTAAATACTCACAATGTTAA AAACAGAAGCTGCACAGTATCTATGAAAGAACAGTAGTTGGCCAGGTGCG GTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGTGTGTGGACT GCCTGAACTCAGGAGTTTGAGATCAACCTGGGCAACGTGGCAAAAGCCAG GCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTACATGCCTGT AATTCCAGCTACTCGGGAGCTGAGGCACAAGAATCGCTTGAACCCAGGAG GTGGGGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTCCACCCTGGG TGACAGAGTGAGATTCTGTCTCCAAAAACAAAAAAACAAACAAACAAACA AACAAAAAAAAAAAAGAAAAGAAAATACAGTGCTGTTAGACTGATACAAA CAGGTTTCATTCCACTTCTTGGGTTTTATATACTTAAGAAAAATATTTGA GGCACAACATTCAACCTATACTTTAGAAACCAAAACCACCAGGACTCCAG AGCCCTGAATAAATTTGGGGTGGGGGGATTAGTTCTGTCTCTGAAAATTT CCTTCAGAAAACAGTGGTGAGAGAGACATAATGTCTGCTGCCTGGGAACA ACTGTTTCTTTCAATTCAGCTGAAGACTCTGGAGGGACAACACTCATCTT TATAACTGTGTCAATGAGGCAAACACTAAAATCTGCCTCATTCTGCCCTG TATGCTGATAGTATCTGGGAAGAAAGTGGCTGATGCAATCCTGATGATGG AACTAACATGGAGACTCATTATCTGTTATAGGAAGGCTTTCCCCTCTACT TCCACTCCACCTAGGGCTAAAGAGAAGACTGCAGAGGAAGATCAGATTCT GAATTATCTGCATGTGTGTGGAATGACAAGCAGTAGATTGGAAAATAGTT TAAATTTGAGAGAAAAGCCCATAAAGCCAGTATGAACATAAACGAATTTG GGAAACAGTACCAAACTGTATTTAGAAATAATAATCAGTATTTATCTGGA GCGTCTATCTTCTAATGGAGTAAAATAGAGAATTTCCTGAGGCCGGGAGA TTGTAATCATCTGAGAAACGAGGAGTGACACTTGGGTTTAATTGGAAAGA ATGATACACAGAATGGCCCACCTATTCCTATCCAGGGATAGAAGCATTAT CATGGAAATTATATTCTGAGGTCAGTAAGCAAAATGACAAGAAGATGGTC TGTGCCAATAGTTTAAATGCCAAGAGGCACCAGGCCAAGAAGGTGCACAG ACATAAATCCGGCAGTGGCACTGATGTAATTATGGGCTTAGACCAATTCT CAAACATGCCAGAAGCTGAACCACAGTCCTTATGGGAAAAGAGAGAGTAT GAAGGTAGTTAGAAGAAAAAAGCTGAGGAAAGATATGTGACTTAAGAAAA AAAAAAAAAAAACCTTAAAACTGGAAATAAAACTCAGTGTCTGCGTAGGG ACCTCATGGTCTTGAAACATGCATAAAACAGAACCGAGGGAGGAAGGGGC CACACACATCTTTATAAGCTCAGTTTCAGAGCTGAGCCGCACGTGCACGG CAGGGTGTGATTCCCTTCTAGGGACCTGGTGCCTGGAGAAGCCCAGAGGT CCATGTGACTTGTGAGCATCCAGAACAAGGATTTCGGGAGGGAATTTCAC AAGCACAGAACATATTTTTTCTCCCTTGACTCTGCTTTCTAGTTTTTTCT CTCCCTCTGCTATTGTTTAATTTTGTGGTTCGACTTTTTGAAGAATGGTG GGAGGTACTGTGTTAAGCAATGCTTTAAGAATGAGGCTCAGCTGCAATCA CTGCAATATGAAAATTGGCCTCCCACATCTTTCCAACCAAACTGTGATTT GACTTAGAAAGAAAGATACATGAAGGAGAGCAGGTATCAAGTGTTACTCA TCTTTTATGTGTCGCACTGCGCCCAGCACACACAAAGTAGGCACATAACA GATGACTCTAGGGAACTGGCCATTTTATCTTAATACTTCTGTATTCTGTT TCATGTTGTTTCCAACTAGGAGCCAGCAATCATAACACTTGTGCTTTTGA GCAATCTTTTGTTGATCCTTATGATCCCATTAGTTAAAGTGATTAAGTGA CCAAATCTGCCACATTATTCTGATGAAAAGTGTCAAAGTTGAACATTAGT CACACTTAGTCAAGACATTTGCAAGGAATCCAGCAAAATCACTGTAAAAG TAAATTTTAAAAAGCATGAGAATACCAAAGTAAAAATGAGTCAAAATAAT TTCCAGTCTCTTTATGATTAAGCAAAGAGCCGGATGACTAATATTAAACA TCTGTACAATATATTGTCCAAGAACTTTATAGTAATATTATTTGTTAATA CATACCACAGAAAAGAAAAAGAAATTATATGACTAAAATAATTAGACTCC TGGGAAAGATAAGCAACTCTTAATTCTCTGAATATGGTATAATTTTATAG GCTAAAATGATGCTTATAAAGGATATTGAGAATAGTTTAAATTATATTTC AGAAAGTATGTCTCAACTGAAATTTAGGAAATGTCTATAAGGTATAGCTT ATAATTCATAAATAATACCATATACAAAATATTTAAGTGAATAAACCCAG ACAAAAGAGGTATAAAAAGCATAACTTTATTAGTAAATGTCTTTTTAAAG AAAACGATAAAAGCACATAGAATAGTTTTAAAGATAATACCAAAAGCACA GATACTGAGAAATCTTTCAGAATCTCTGCTAACATTTTATGTCCCAGGAA GAGAAGGCAATTTGAGAAATTGCTACCCAGGATCTAGACTGATCAACTCC TAAGATTCAATAGTGAATGACAAAGGGGAAATCCTTAGTTTTCATGGTGA TCACAAAAGAGGAGACTGGGCATATTCATCATATTCATGAACCTACTTTA GGTCTTAGGAAGACGGAGTTTAAACAATTTATACGTAAATATGGGGAAGA TTCCTTGACAAGAAACTCAGGAAGGACTGGAGCTATGTCGTTTACAAAAA TGCCTTTCTATGAATTAGGCCTTGATAACTCAAAAGAGATTTTAATTTAG GATATAGGCAATTTTATAAATTAGAGGGCAAAGGAATGTATAGTCAATAA ATACCTCTCAGAAAAATGCCCAGCTATTTGGAAAATGATTCAGTTTGCAT CTTTCATCATGCTATTCCCCCAAAATAAGTCTTAGCAGCTGGATCAAAGA TTTAAATATAGACAACAGGACCTTTAAAGAAAGGACCTAGGTGGAAATGC AGGTAGATAATGAATTTTAAACAAAGATAATGGCAAGAAACCTGTCGATT CAAATGAGGAAAAATACTTGTTAATGATTGTTAGGACTCACTTTTTAAAA CTAACAAATTCCATCCCAGTTTGTGAACCTCAAGTCTTGAGTGAACACAT TAGTAAGTAACCTAACTTTTGTAAACTCTGGATTACTTTCATTGACGTTT ATAAATCAAGAACTTAGATCAAGTCATTCTTTACTAAAATCTGACAATGA TAAGGAGAACTTACCGACAGCAAATGACAGCTTTGCATGACAAAGCTAAG TCCAGGAAATACTGTCGTACTCCAAAGGTTAAGGCATATTTGAGGGTTTT CCCATCAATTATAAGAGCAAAATCATTCTCTTTCCGGAGAGCATCACCAA GGGTAGTACAGTGACGACTGAGAGTTTCCCTTGTTCCCTGGAATATTAAA CAAGCAAAAATGCCATCAACATTTACTCCCATTTGTTCTACTAGGATGCC TTAAGGATATTTGGCAACTACATTTAGTTATTTTTAGTGCTTTTTATGTT TCAAATTGCTTTCACATACTTTCAGTCATTTGATTCTTACTAGCCCCTCA GGAGCCTGCACAATTGTTATCAGAAAAAGTTAGTTACTTGATTGAAGTCA CACATCTGTTCCTAGCAGGGTTGGGACTAGACTATAAGTCACCTGTTTCT CAGGTGATTCTGTAGTCTTTGCTCATTATTCTAACCATCATTGTTTGAAA TGCTTGTTCCCCGGTGCTGTAAAGAAATAGCACTTGAACATAAATTTAAT TTATTTAGTAAGGCCATTTTTACTTTTTGCAGAAAGGGTACACTCGCCAG CAGTTTTGCCACGAGAGTACACTGAACAAAGGAGACAGGGTCATTTATAA CCTGACGCGTTCACCCCACCGCTGTGTCCGGTTTCCATTGGCTGGAATGG GACCTCACATTCTGTATTTGTCCCGATTGGCTAGCAACTTAGAACCTTTT AAAAGAGGCAAAGGTAAAGGAGAACAAAGGAAGGCGGAAGTAACTTGTGG AATGCTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTA TGACCTAATCTTGCTTGGACCAGTATAAGCATGTCGGGGCAAATATTTAG GCTAAATTGTGGGAGCTAGGAACATAAAGTACATTGATTTCTTTATTATG GCTAGCACAGGTCTTTGAATAAATTTTGCTTTTAAGAGAAATTACTATTT ATTCCTAATTAGACGGGGAGGAAAGTCTTTGAAGAGGAACCTCTACTTTA CTTTTTACACGACCATGCAATCACAATACGGCAAACATATTTTCAGTAAA TTCTTTTGTTAAAAATCGTGTTAATTTATGAGCTAGTCAAAGTTGCTACT CCATGAATGAAGGGAAGAAGTTGGGGAATATATGCATCACTTAACTATGT TTTGGTCAACAGACTGAATATCCCATGGTGGGCCCATAAGATTGTGAGAC CATATTTTTACTGTGCCTTTTCTGTGTTTAGATATACAAATACCACTGTG TTACAACCGCCTACAGTATTCAGTACAATAACAGGCTATAAGGGCTTGTA GCCTAGGAGCAATAGGCTATCTTGTGTAGCCTGAGTCTGGAATAGGCTAT GCCATCTAGGTTTGTGCAAGTACCCTCTATGATGTTCATACAATGACAAA ATTGCCTAATGTCATGTTTCTCAGAATGTATCATTTCATTAAGCAAACTG TAATTTAAATAATTTACAGGCATTCTTTCAAAAATCCTCAATGCTATTGA ATTTAACTCCTAGTAACTAAGAGGAGGAAATGCACAATCTGTAAACTCTT GCCTCTTTTATGAACTGGCTTTTGTAATTTTAATCATGATTTCATGATGT TGTATTTAGTTGGGGATGGTGACCTGTGACTTGGTAATCTTGATGGATCA AATAAAAGAACGCCTTCTATCAATGAAGAGTTCACTTTCAGGGACAATAA AAGCCTTTAGTGTCAAGACAGCTTTGTTCACCTCAACTATTTGTCTCCCT TTGTCAAGAACTGCTTTCCCAGCTCTTCAAAGGGATAAAGTTTCAATACA TTTAGTTTTTCTCCCCACATCCTATAGATTCTTCCTATAACCTAATGGAG CCAATTTCCTATTTCACAAGAGCCCTACCGTGGTGAAGAAACACAACACT GGCCTGGCACAAGGAAATATAATGAGTAATTCCCCTCCTATCAGATTTCT GTTCTGAGTGCTAAGCCTACAGTTATTTATAAAATAAATACAAATATACA TATTTATATAATAAAATATACCTACAATAAAAATACAGTACACTTATATA ACAATTTTTATTATGTTCATGGGATTTACAATTATTGTTCCAATTTAAGC ATGTCGTTTTATATATATATGGTCATTTTGTAGTTATTTCACAGAGAAGC AAAGGCATAGGTAATTAAAATTTTATGTTGGGGATTTTTGAAAGTGTTTT TACATTTGTATGCAAATGCGGTTCACACTATGTTCTGGAATATCAGAATC CTTTTACCAAAATAATAGAACCAAGTTGTACTATAAAGAAAGACTGCCCA ACTTTCCTAATGCTGAAGCTTCACTTAACAGTTGCCCTGTTCCCCATTAC ACACAGTGACACAAAGGACCACCATATAGCAGCATTCTTTGCAAAATTTT CTGTTCACACTTTACATCAGGGATGGGGGGAGAGTAGCTGTTTTAATTTA CAAGCCTCACCCTCCTGTTTCCTGCTGGAAATTTTTGGCCCAAGAGGACT TAAAGAAGTGAAAAATGTTGGTAATAAATTCCACAAGCAAAATTTACTAA TGACAATCTATAATAGATATCCCCTGGATTATCTTAACAGCAAATTCATA TAGATTAAATGAACAAATAAGTCAATGAACTGATACAAAATATTTAGCAC ATACTACACACTAAGCACAGTTCTGAGATGCAACACAGAGATGCAGCATT TAAGTTAACACTTGCTACCATCCTGAGCAGGAGGCACTACTGTTATCTCC ATTCTGCAGATGAGAGTGTTTCAGTTCCTTGCTTAAAAATATGTGGCTAT TAAGTAGTGACATCAAAGTGAGAATGAAATTTCTGCGGTAGCCTGTCTTT TTCTATGCAATCCAGCAAAAAAAAAAACAACAAACCAAACTTCAGACAGT ACCAGGCGCAGCAAGTTAGAAATGGAATGCCCACACCAGTCCCTCTGTTG CTTCCCTTGAGCCCTCATCATCTGTCTCTCATCTTGTCTTTACCACCAAC AGAGACATCTCTTTATAAAACAAATTTAAAACACAAATCTTGTCTCTTCT TGCTTTAAAAATTTTCTAGGGCTTTCTACAGCTGACACAATAAAGTCTAA ACTCCTTAAAATGGCATGTAAGGCTTCCTACATTCTGAGCCTAACTTTCC TTCCCAGTGCCCTTCACAATCTTGGTTTCTTTTGTTTCCCTCTTCCTGGA ATGTCCTCCTCTCCAGAGGATCATCTGCTGCCTTCAAAAACCAAGCTTAC CCTGTAAGCCCTCCCAGGTTCAGTCCACGCTACCAAGTGTAACTCATTCT ACTGCAGCAAAACCCTGAGTTTCTTGACAGGAAAGACCGCGTTAAACCTG TTTCCCAGCAACAAAGGCAGTGTCTGCAATTACAGATGCTCATGAAATAC ATATTTATTGAATGAGAGCATTGATAAATTCTGATTTCATCCCGTTGGCA ATGCTCCATTTCCCCCTTTATTATCACTTCTGATTAGAGAAAGAGAGAGA GTAAGAGAGAGACACACACAGAGAGAGGTCTTCTCTTTGCTCCCTAATTT TCCAGGGAACAAATAATCCATTACTTTAACAGACTTTCAAACAAAGGCAT TGCTCACTAAAAAGCCTCTGTATTTTCTTTTAAGCTATTGCCCAAGTGAT TTCTGAGCTGAAAACCTGAAATGAAACCTGAGACGGACCTCAGGAGGACT TCGAATTTCTTGAAAGCTCAGCTGCAAAACAAGACCGAAAGTCAAGTAAA CCCCAGAACTGTGAAACGCCCTCATGAACCAACATAGGGTATGCAGTCCT GTGGTCCCCGCTCTCCCTCCTTTATAAGGCATTCTCTAACACCTTAAAAT TTATTGAAAATTCTCTAAATTCGTGACATCAGTATCCCTAGGTTTTGTTG GTGACTATCACAGATCTCTGGCAAATCAGAAGGTGTCAAGAGATGTGATA GAAATAACATTTCAGAAGGTGAGTCAAAAACTTCTCACAGTGAATTCACT CGTCAGCCCACCTAGGGTGCAAGGTAACAACAACAAAAAAAGCTGCAAAC ATTTTCTCATTTTAGTTTATAGTTTTCTTTTGTAAGCTCTGTTGTTAGCT GTGTGCTGCCAGTTACAAGTTATATTTTATCCTTATTTACTGCCGGGAGT ATTTTCAAATTCTTTTATTTATGAAACTTTATTGCTTCTCCCCTAAGTCC AGGAGCCATACTTTATGGCTGCATTGCATTGAAGCTTATCTCCTGTAGCT AAGGATAAATTTATTACTATATTAGCTGTTGTTTTGTTTTTTTGGCTACT GAAGGGGGAAATTTTTAAATATTGAAACTTAGTGACTTGTAAAAGTGAAA ATATAGCAATGAGAAGCTAAATCAGAAAAAGGATCAAAGACCACAGGCTC AATGAAATAAAAGATCTCTATTTCCTTGTTCTGCATATTTTCACTCGTGG GCTGAAAGTCCAGGAGCATCAGAGACATTGCAAGGTAAAGGCAATCTGGG GAGATGGACAGGTAAGAGGAAAGGCTGGGGTTCAAACACTCAGCCAGGCA AGGGAGGGAGCCACAGTGGAAAGTGAGATTCTCGTGCCCCTTCCCTGACC TGCAGCCTGTGTGGTCATTCTGGACAACCATTCTGCTCTGCTCTTCCCAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0014 a0005c0010t0014	a0005c0010t0014g0277 a0005c0010t0014g0277	1	310	0.0032	-9899	c.215 others(19): Show c.2152-4513_2324+5213del		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/37				chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42522162	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0228 a0004c0011t0005g0228	1	310	0.0032	0	c.194 others(4): Show c.1945A>G	p.Lys others(6): Show p.Lys649Glu	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	22/37	2177/8270	1945/3495	649/1164	chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25581815	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(64): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01981.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(60): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0059 a0001c0001t0064 a0001c0001t0066 a0001c0001t0072 a0001c0001t0074 a0001c0002t0001 a0001c0002t0006 a0001c0002t0070 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0018 a0001c0003t0052 a0001c0003t0061 a0001c0003t0062 a0001c0003t0073 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0022 a0001c0004t0049 a0001c0005t0021 a0001c0005t0023 a0001c0005t0044 a0001c0006t0043 a0001c0007t0007 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057 a0001c0009t0037 a0001c0009t0038 a0001c0011t0017 a0001c0015t0008 a0001c0016t0045 a0001c0018t0024 a0001c0019t0007 a0001c0020t0019	a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 others(64): Show a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0005g0102 a0001c0001t0008g0073 a0001c0001t0009g0065 a0001c0001t0010g0100 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 a0001c0001t0015g0082 a0001c0001t0016g0104 a0001c0001t0017g0051 a0001c0001t0018g0041 a0001c0001t0019g0004 a0001c0001t0024g0003 a0001c0001t0025g0009 a0001c0001t0026g0090 a0001c0001t0030g0087 a0001c0001t0035g0043 a0001c0001t0040g0038 a0001c0001t0041g0044 a0001c0001t0042g0059 a0001c0001t0046g0045 a0001c0001t0048g0122 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0001t0054g0103 a0001c0001t0059g0022 a0001c0001t0064g0072 a0001c0001t0066g0092 a0001c0001t0072g0027 a0001c0001t0074g0116 a0001c0002t0001g0069 a0001c0002t0006g0119 a0001c0002t0070g0068 a0001c0003t0006g0078 a0001c0003t0008g0010 a0001c0003t0010g0026 a0001c0003t0018g0057 a0001c0003t0052g0113 a0001c0003t0061g0055 a0001c0003t0062g0024 a0001c0003t0073g0001 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0004g0048 a0001c0004t0005g0089 a0001c0004t0022g0054 a0001c0004t0049g0086 a0001c0005t0021g0030 a0001c0005t0023g0002 a0001c0005t0044g0018 a0001c0006t0043g0095 a0001c0007t0007g0094 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0009t0037g0008 a0001c0009t0038g0112 a0001c0011t0017g0121 a0001c0015t0008g0015 a0001c0016t0045g0105 a0001c0018t0024g0066 a0001c0019t0007g0029 a0001c0020t0019g0067	67	122	0.5492	0	c.200 others(6): Show c.2008-4G>C		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	22/36				chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25860860	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0110 a0001c0012t0002g0110	1	122	0.0082	0	c.307 others(4): Show c.3075A>G	p.Lys others(7): Show p.Lys1025Lys	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	32/37	3314/9672	3075/3567	1025/1188	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57650359	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01106.hp2 HG01123.hp2 others(17): Show HG00741.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02683.hp1 HG03490.hp1 HG03491.hp2 NA19087.hp2 NA20805.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0010c0010t0006	a0001c0001t0006g0045 a0001c0001t0006g0057 a0001c0001t0006g0069 others(17): Show a0001c0001t0006g0045 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0074 a0001c0001t0006g0082 a0001c0001t0006g0095 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0013g0223 a0001c0001t0013g0231 a0001c0001t0013g0268 a0001c0001t0013g0294 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0027g0307 a0001c0001t0027g0310 a0010c0010t0006g0028	20	314	0.0637	0	c.353 others(6): Show c.3531+8G>T		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27				chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57650362	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	314	0.0032	0	c.353 others(6): Show c.3531+5A>G		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27				chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57667173	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	314	0.0032	0	c.221 others(6): Show c.2210-6T>A		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	19/27				chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57697620	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.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 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 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 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012	a0001c0001 a0001c0005 a0001c0006 others(15): Show a0001c0001 a0001c0005 a0001c0006 a0001c0012 a0001c0014 a0001c0018 a0001c0019 a0002c0002 a0003c0003 a0004c0004 a0004c0008 a0005c0007 a0006c0009 a0007c0011 a0008c0013 a0010c0010 a0011c0015 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0005t0016 a0001c0006t0001 a0001c0012t0035 a0001c0014t0008 a0001c0018t0007 a0001c0019t0031 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0003c0003t0018 a0003c0003t0022 a0003c0003t0024 a0003c0003t0042 a0004c0004t0034 a0004c0004t0046 a0004c0004t0047 a0004c0008t0004 a0005c0007t0030 a0006c0009t0033 a0007c0011t0008 a0008c0013t0017 a0010c0010t0006 a0011c0015t0010 a0012c0020t0012	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(309): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0303 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0034 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0055 a0001c0001t0004g0063 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0094 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0113 a0001c0001t0004g0120 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0138 a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0017 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0036 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0085 a0001c0001t0005g0118 a0001c0001t0005g0127 a0001c0001t0005g0132 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0045 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0074 a0001c0001t0006g0082 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0106 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0007g0196 a0001c0001t0007g0206 a0001c0001t0007g0210 a0001c0001t0007g0212 a0001c0001t0007g0219 a0001c0001t0007g0226 a0001c0001t0007g0247 a0001c0001t0007g0252 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0257 a0001c0001t0007g0263 a0001c0001t0007g0270 a0001c0001t0007g0280 a0001c0001t0007g0283 a0001c0001t0007g0300 a0001c0001t0007g0302 a0001c0001t0008g0020 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0037 a0001c0001t0008g0041 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0060 a0001c0001t0008g0079 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0104 a0001c0001t0008g0134 a0001c0001t0008g0142 a0001c0001t0009g0199 a0001c0001t0009g0205 a0001c0001t0009g0215 a0001c0001t0009g0225 a0001c0001t0009g0230 a0001c0001t0009g0232 a0001c0001t0009g0235 a0001c0001t0009g0243 a0001c0001t0009g0246 a0001c0001t0009g0249 a0001c0001t0009g0253 a0001c0001t0009g0259 a0001c0001t0009g0262 a0001c0001t0009g0286 a0001c0001t0009g0288 a0001c0001t0010g0143 a0001c0001t0010g0146 a0001c0001t0010g0151 a0001c0001t0010g0152 a0001c0001t0010g0153 a0001c0001t0010g0157 a0001c0001t0010g0162 a0001c0001t0010g0164 a0001c0001t0010g0169 a0001c0001t0010g0170 a0001c0001t0010g0176 a0001c0001t0010g0186 a0001c0001t0010g0188 a0001c0001t0011g0145 a0001c0001t0011g0147 a0001c0001t0011g0154 a0001c0001t0011g0158 a0001c0001t0011g0159 a0001c0001t0011g0161 a0001c0001t0011g0172 a0001c0001t0011g0174 a0001c0001t0011g0181 a0001c0001t0011g0184 a0001c0001t0011g0191 a0001c0001t0012g0150 a0001c0001t0012g0160 a0001c0001t0012g0178 a0001c0001t0012g0180 a0001c0001t0012g0183 a0001c0001t0012g0189 a0001c0001t0013g0216 a0001c0001t0013g0223 a0001c0001t0013g0231 a0001c0001t0013g0268 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0013g0294 a0001c0001t0015g0156 a0001c0001t0015g0163 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0016g0021 a0001c0001t0016g0027 a0001c0001t0016g0040 a0001c0001t0017g0217 a0001c0001t0017g0222 a0001c0001t0017g0248 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0020g0165 a0001c0001t0020g0171 a0001c0001t0020g0193 a0001c0001t0021g0001 a0001c0001t0021g0002 a0001c0001t0023g0167 a0001c0001t0023g0168 a0001c0001t0025g0306 a0001c0001t0025g0313 a0001c0001t0026g0311 a0001c0001t0026g0314 a0001c0001t0027g0307 a0001c0001t0027g0310 a0001c0001t0028g0304 a0001c0001t0028g0308 a0001c0001t0029g0092 a0001c0001t0032g0005 a0001c0001t0036g0179 a0001c0001t0038g0190 a0001c0001t0039g0149 a0001c0001t0040g0148 a0001c0001t0041g0192 a0001c0001t0043g0299 a0001c0001t0044g0197 a0001c0001t0048g0312 a0001c0001t0049g0309 a0001c0001t0050g0305 a0001c0005t0016g0056 a0001c0006t0001g0114 a0001c0012t0035g0008 a0001c0014t0008g0123 a0001c0018t0007g0234 a0001c0019t0031g0062 a0002c0002t0014g0207 a0002c0002t0014g0229 a0002c0002t0014g0237 a0002c0002t0014g0266 a0002c0002t0014g0274 a0002c0002t0014g0293 a0002c0002t0019g0038 a0002c0002t0019g0048 a0002c0002t0019g0137 a0002c0002t0037g0175 a0003c0003t0018g0267 a0003c0003t0018g0282 a0003c0003t0022g0111 a0003c0003t0022g0135 a0003c0003t0024g0144 a0003c0003t0024g0185 a0003c0003t0042g0182 a0004c0004t0034g0088 a0004c0004t0046g0291 a0004c0004t0047g0204 a0004c0008t0004g0004 a0005c0007t0030g0007 a0006c0009t0033g0080 a0007c0011t0008g0084 a0008c0013t0017g0260 a0010c0010t0006g0028 a0011c0015t0010g0155 a0012c0020t0012g0173	312	314	0.9936	0	c.696 others(3): Show c.696T>C	p.Asp others(6): Show p.Asp232Asp	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	8/28	1039/6161	696/3756	232/1251	chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57731838	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	314	0.0032	0	c.-25 others(5): Show c.-25-6T>C		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27				chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154346756	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0004 a0005c0016t0004	a0005c0016t0004g0159 a0005c0016t0004g0159	1	382	0.0026	0	c.316 others(4): Show c.3161T>C	p.Val others(7): Show p.Val1054Ala	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding	26/28	3376/5974	3161/3573	1054/1190	chr1	TogoVar
ATP8B3_chr19_1777075_1817276	1784945	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(155): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19080.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0012 a0017	a0000c0020 a0000c0023 a0000c0027 others(38): Show a0000c0020 a0000c0023 a0000c0027 a0000c0029 a0000c0032 a0000c0035 a0000c0038 a0000c0040 a0000c0043 a0000c0046 a0000c0050 a0000c0054 a0000c0058 a0000c0059 a0000c0060 a0000c0063 a0000c0065 a0000c0071 a0001c0001 a0001c0011 a0001c0028 a0001c0030 a0001c0031 a0001c0037 a0001c0064 a0002c0009 a0002c0019 a0002c0026 a0002c0047 a0003c0010 a0003c0044 a0004c0012 a0004c0034 a0005c0033 a0005c0053 a0008c0067 a0008c0075 a0009c0025 a0010c0057 a0012c0073 a0017c0069	a0000c0020t0007 a0000c0020t0008 a0000c0023t0007 others(45): Show a0000c0020t0007 a0000c0020t0008 a0000c0023t0007 a0000c0027t0008 a0000c0029t0007 a0000c0032t0007 a0000c0035t0007 a0000c0038t0007 a0000c0040t0008 a0000c0043t0008 a0000c0046t0008 a0000c0050t0008 a0000c0054t0007 a0000c0058t0008 a0000c0059t0017 a0000c0060t0007 a0000c0063t0007 a0000c0065t0007 a0000c0071t0007 a0001c0001t0001 a0001c0001t0006 a0001c0011t0001 a0001c0011t0018 a0001c0028t0002 a0001c0028t0009 a0001c0030t0002 a0001c0030t0009 a0001c0031t0001 a0001c0037t0009 a0001c0064t0014 a0002c0009t0006 a0002c0019t0011 a0002c0026t0012 a0002c0047t0004 a0003c0010t0006 a0003c0010t0019 a0003c0044t0006 a0004c0012t0001 a0004c0012t0016 a0004c0034t0001 a0005c0033t0001 a0005c0053t0001 a0008c0067t0009 a0008c0075t0009 a0009c0025t0006 a0010c0057t0001 a0012c0073t0001 a0017c0069t0001	a0000c0020t0007g0008 a0000c0020t0007g0050 a0000c0020t0007g0075 others(154): Show a0000c0020t0007g0008 a0000c0020t0007g0050 a0000c0020t0007g0075 a0000c0020t0008g0378 a0000c0023t0007g0036 a0000c0023t0007g0048 a0000c0023t0007g0106 a0000c0027t0008g0250 a0000c0027t0008g0263 a0000c0029t0007g0031 a0000c0029t0007g0052 a0000c0032t0007g0129 a0000c0032t0007g0130 a0000c0035t0007g0165 a0000c0035t0007g0166 a0000c0038t0007g0178 a0000c0038t0007g0179 a0000c0040t0008g0265 a0000c0043t0008g0247 a0000c0046t0008g0358 a0000c0050t0008g0236 a0000c0054t0007g0022 a0000c0058t0008g0379 a0000c0059t0017g0091 a0000c0060t0007g0135 a0000c0063t0007g0035 a0000c0065t0007g0136 a0000c0071t0007g0170 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0006g0374 a0001c0001t0006g0375 a0001c0011t0001g0172 a0001c0011t0001g0174 a0001c0011t0001g0182 a0001c0011t0001g0183 a0001c0011t0001g0189 a0001c0011t0001g0194 a0001c0011t0001g0196 a0001c0011t0001g0198 a0001c0011t0001g0199 a0001c0011t0001g0203 a0001c0011t0001g0205 a0001c0011t0001g0213 a0001c0011t0001g0225 a0001c0011t0001g0227 a0001c0011t0018g0231 a0001c0028t0002g0054 a0001c0028t0009g0007 a0001c0030t0002g0042 a0001c0030t0009g0105 a0001c0031t0001g0133 a0001c0031t0001g0134 a0001c0037t0009g0180 a0001c0037t0009g0201 a0001c0064t0014g0010 a0002c0009t0006g0240 a0002c0009t0006g0241 a0002c0009t0006g0244 a0002c0009t0006g0266 a0002c0009t0006g0268 a0002c0009t0006g0269 a0002c0009t0006g0271 a0002c0009t0006g0272 a0002c0009t0006g0280 a0002c0009t0006g0284 a0002c0009t0006g0285 a0002c0009t0006g0288 a0002c0009t0006g0292 a0002c0009t0006g0323 a0002c0009t0006g0324 a0002c0009t0006g0357 a0002c0009t0006g0359 a0002c0019t0011g0254 a0002c0019t0011g0256 a0002c0019t0011g0277 a0002c0019t0011g0367 a0002c0026t0012g0237 a0002c0026t0012g0282 a0002c0047t0004g0366 a0003c0010t0006g0257 a0003c0010t0006g0295 a0003c0010t0006g0297 a0003c0010t0006g0301 a0003c0010t0006g0302 a0003c0010t0006g0306 a0003c0010t0006g0325 a0003c0010t0006g0332 a0003c0010t0006g0333 a0003c0010t0006g0335 a0003c0010t0006g0344 a0003c0010t0006g0347 a0003c0010t0006g0349 a0003c0010t0006g0369 a0003c0010t0006g0370 a0003c0010t0019g0331 a0003c0044t0006g0283 a0004c0012t0001g0109 a0004c0012t0001g0113 a0004c0012t0001g0122 a0004c0012t0001g0127 a0004c0012t0001g0128 a0004c0012t0001g0149 a0004c0012t0001g0150 a0004c0012t0001g0153 a0004c0012t0001g0154 a0004c0012t0001g0156 a0004c0012t0016g0095 a0004c0034t0001g0224 a0004c0034t0001g0228 a0005c0033t0001g0171 a0005c0033t0001g0234 a0005c0053t0001g0040 a0008c0067t0009g0037 a0008c0075t0009g0204 a0009c0025t0006g0298 a0009c0025t0006g0299 a0010c0057t0001g0051 a0012c0073t0001g0219 a0017c0069t0001g0082	158	390	0.4051	0	c.353 others(4): Show c.3534T>C	p.Tyr others(7): Show p.Tyr1178Tyr	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	28/29	3773/5095	3534/3903	1178/1300	chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1787098	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02895.hp1	a0008 a0008	a0008c0075 a0008c0075	a0008c0075t0009 a0008c0075t0009	a0008c0075t0009g0204 a0008c0075t0009g0204	1	390	0.0026	0	c.315 others(6): Show c.3153+5G>A		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	25/28				chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1795992	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0022 a0005c0014t0022	a0005c0014t0022g0387 a0005c0014t0022g0387	1	390	0.0026	0	c.194 others(6): Show c.1943-5C>T		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	17/28				chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1796884	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01891.hp2 HG02451.hp1 others(9): Show HG01243.hp2 HG01891.hp2 HG02451.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 NA18522.hp2 NA20300.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0020 a0000c0027 a0000c0050 others(6): Show a0000c0020 a0000c0027 a0000c0050 a0001c0004 a0001c0030 a0002c0003 a0002c0007 a0002c0019 a0002c0048	a0000c0020t0008 a0000c0027t0008 a0000c0050t0008 others(6): Show a0000c0020t0008 a0000c0027t0008 a0000c0050t0008 a0001c0004t0003 a0001c0030t0002 a0002c0003t0005 a0002c0007t0004 a0002c0019t0011 a0002c0048t0021	a0000c0020t0008g0378 a0000c0027t0008g0263 a0000c0050t0008g0236 others(9): Show a0000c0020t0008g0378 a0000c0027t0008g0263 a0000c0050t0008g0236 a0001c0004t0003g0009 a0001c0030t0002g0042 a0002c0003t0005g0262 a0002c0003t0005g0274 a0002c0007t0004g0251 a0002c0007t0004g0255 a0002c0019t0011g0254 a0002c0019t0011g0256 a0002c0048t0021g0289	12	390	0.0308	0	c.158 others(6): Show c.1585-5C>A		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	15/28				chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1802483	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00642.hp1 HG01109.hp2 others(19): Show HG00140.hp1 HG00642.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG02055.hp2 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0008	a0000c0023 a0000c0027 a0000c0029 others(12): Show a0000c0023 a0000c0027 a0000c0029 a0000c0038 a0001c0001 a0001c0004 a0001c0008 a0001c0011 a0001c0028 a0001c0037 a0002c0003 a0002c0007 a0002c0009 a0002c0026 a0008c0075	a0000c0023t0007 a0000c0027t0008 a0000c0029t0007 others(12): Show a0000c0023t0007 a0000c0027t0008 a0000c0029t0007 a0000c0038t0007 a0001c0001t0001 a0001c0004t0003 a0001c0008t0003 a0001c0011t0001 a0001c0028t0002 a0001c0037t0009 a0002c0003t0005 a0002c0007t0004 a0002c0009t0006 a0002c0026t0012 a0008c0075t0009	a0000c0023t0007g0048 a0000c0027t0008g0250 a0000c0029t0007g0052 others(18): Show a0000c0023t0007g0048 a0000c0027t0008g0250 a0000c0029t0007g0052 a0000c0038t0007g0178 a0000c0038t0007g0179 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0004t0003g0055 a0001c0008t0003g0206 a0001c0011t0001g0203 a0001c0011t0001g0205 a0001c0028t0002g0054 a0001c0037t0009g0180 a0002c0003t0005g0281 a0002c0003t0005g0286 a0002c0003t0005g0364 a0002c0007t0004g0002 a0002c0009t0006g0269 a0002c0009t0006g0288 a0002c0026t0012g0282 a0008c0075t0009g0204	22	390	0.0564	0	c.106 others(6): Show c.1063+4C>T		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	11/28				chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1806173	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03209.hp1	a0000 a0000	a0000c0020 a0000c0020	a0000c0020t0007 a0000c0020t0007	a0000c0020t0007g0050 a0000c0020t0007g0050	1	390	0.0026	0	c.678 others(5): Show c.678-4G>A		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	7/28				chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1809742	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0005 a0003c0039t0005	a0003c0039t0005g0245 a0003c0039t0005g0245	1	390	0.0026	0	c.311 others(5): Show c.311-8C>T		ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	3/28				chr19	TogoVar
ATP8B4_chr15_49853238_50124233	49979816	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	254	0.0039	0	c.838 others(5): Show c.838-3C>T		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	11/27				chr15	TogoVar
ATP8B4_chr15_49853238_50124233	49987385	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0155 a0002c0002t0001g0155	1	254	0.0039	0	c.748 others(5): Show c.748+6G>A		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	10/27				chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50010917	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0039 a0002c0021t0002g0039	1	254	0.0039	0	c.363 others(3): Show c.363A>G	p.Lys others(6): Show p.Lys121Lys	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	7/28	516/5688	363/3579	121/1192	chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50106941	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0010 a0012c0013t0010	a0012c0013t0010g0223 a0012c0013t0010g0223	1	254	0.0039	0	c.26G others(2): Show c.26G>A	p.Arg others(4): Show p.Arg9His	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/28	179/5688	26/3579	9/1192	chr15	TogoVar
ATP9A_chr20_51591514_51773390	51674311	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18985.hp1 NA18985.hp2 NA18985.hp1 NA18985.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0007 a0001c0009t0003 a0001c0009t0007	a0001c0009t0003g0283 a0001c0009t0007g0233 a0001c0009t0003g0283 a0001c0009t0007g0233	2	312	0.0064	0	c.879 others(3): Show c.879C>T	p.Ile others(6): Show p.Ile293Ile	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	11/28	900/7862	879/3144	293/1047	chr20	TogoVar
ATP9A_chr20_51591514_51773390	51689056	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00741.hp2 HG01515.hp1 others(18): Show HG00140.hp1 HG00741.hp2 HG01515.hp1 HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0018 a0001c0003 a0001c0015 a0001c0018	a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 others(9): Show a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0003t0015 a0001c0003t0022 a0001c0003t0028 a0001c0003t0031 a0001c0003t0032 a0001c0003t0079 a0001c0015t0015 a0001c0018t0009	a0001c0003t0007g0040 a0001c0003t0007g0130 a0001c0003t0010g0155 others(18): Show a0001c0003t0007g0040 a0001c0003t0007g0130 a0001c0003t0010g0155 a0001c0003t0010g0204 a0001c0003t0012g0156 a0001c0003t0014g0081 a0001c0003t0014g0152 a0001c0003t0014g0153 a0001c0003t0014g0157 a0001c0003t0014g0158 a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0015g0151 a0001c0003t0022g0131 a0001c0003t0028g0095 a0001c0003t0031g0120 a0001c0003t0031g0222 a0001c0003t0032g0107 a0001c0003t0079g0312 a0001c0015t0015g0017 a0001c0018t0009g0154	21	312	0.0673	0	c.799 others(5): Show c.799+8G>A		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27				chr20	TogoVar
ATP9A_chr20_51591514_51773390	51689057	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0116 a0001c0005t0046g0116	1	312	0.0032	0	c.799 others(5): Show c.799+7C>T		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27				chr20	TogoVar
ATP9A_chr20_51591514_51773390	51690826	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 NA18968.hp2 NA19060.hp2 HG00408.hp1 NA18968.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0018g0239 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0018g0239	3	312	0.0096	0	c.643 others(5): Show c.643-7T>C		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	7/27				chr20	TogoVar
ATP9B_chr18_79064394_79383283	79110347	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(30): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01243.hp1 HG01891.hp1 HG02027.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02723.hp2 HG02735.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18955.hp2 NA19030.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0014	a0001c0006 a0001c0010 a0003c0007 others(5): Show a0001c0006 a0001c0010 a0003c0007 a0003c0020 a0003c0021 a0004c0008 a0004c0036 a0014c0022	a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 others(8): Show a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0001 a0001c0010t0004 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0004c0008t0001 a0004c0036t0001 a0014c0022t0004	a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 others(29): Show a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0001g0296 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271 a0014c0022t0004g0276	33	298	0.1107	0	c.294 others(5): Show c.294-8T>G		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	2/29				chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336714	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02257.hp2 HG02723.hp2 others(6): Show HG01243.hp1 HG02257.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp1	a0003 a0010 a0003 a0010	a0003c0007 a0003c0021 a0010c0029 a0003c0007 a0003c0021 a0010c0029	a0003c0007t0004 a0003c0021t0004 a0010c0029t0004 a0003c0007t0004 a0003c0021t0004 a0010c0029t0004	a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 others(6): Show a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0021t0004g0284 a0010c0029t0004g0220	9	298	0.0302	0	c.211 others(6): Show c.2112+3G>A		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	18/29				chr18	TogoVar
ATPSCKMT_chr5_10220507_10254888	10236621	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG02258.hp1 HG02451.hp1 others(3): Show HG01074.hp1 HG02258.hp1 HG02451.hp1 HG02970.hp1 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0008 a0001c0004t0002g0189 a0001c0004t0002g0208 a0001c0004t0002g0008 a0001c0004t0002g0189 a0001c0004t0002g0208	6	358	0.0168	0	c.307 others(5): Show c.307-6C>G		ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding	2/4				chr5	TogoVar
ATRAID_chr2_27207041_27222157	27215469	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0013	2	302	0.0066	0	c.294 others(5): Show c.294-5T>C		ATRAID	ENSG00000138085.18	transcript	ENST00000380171.9	protein_coding	3/6				chr2	TogoVar
ATRIP_chr3_48441737_48472645	48464823	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02145.hp1 HG02622.hp1 others(8): Show HG01891.hp1 HG02145.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp1 HG03540.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0013 a0001c0004t0008 a0003c0006t0014 others(1): Show a0001c0001t0013 a0001c0004t0008 a0003c0006t0014 a0003c0006t0022	a0001c0001t0013g0024 a0001c0004t0008g0009 a0001c0004t0008g0033 others(2): Show a0001c0001t0013g0024 a0001c0004t0008g0009 a0001c0004t0008g0033 a0003c0006t0014g0018 a0003c0006t0022g0018	11	360	0.0306	0	c.205 others(6): Show c.2056-8T>C		ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	11/12				chr3	TogoVar
ATRN_chr20_3466018_3656118	3535336	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01943.hp1 HG01943.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0007 a0010c0023t0007	a0010c0023t0007g0182 a0010c0023t0007g0182	1	220	0.0046	0	c.494 others(3): Show c.494A>T	p.Gln others(6): Show p.Gln165Leu	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/29	584/8651	494/4290	165/1429	chr20	TogoVar
ATRN_chr20_3466018_3656118	3575822	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(1): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG01099.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0005 a0006c0010t0005 a0006c0010t0018 a0001c0001t0005 a0006c0010t0005 a0006c0010t0018	a0001c0001t0005g0064 a0006c0010t0005g0127 a0006c0010t0018g0126 others(1): Show a0001c0001t0005g0064 a0006c0010t0005g0127 a0006c0010t0018g0126 a0006c0010t0018g0128	4	220	0.0182	0	c.209 others(6): Show c.2093-5T>G		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	12/28				chr20	TogoVar
ATRN_chr20_3466018_3656118	3575956	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02109.hp2 HG02451.hp2 others(14): Show HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0004 a0002c0012 a0005c0009 others(1): Show a0002c0004 a0002c0012 a0005c0009 a0011c0022	a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 others(5): Show a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0005c0009t0004 a0011c0022t0004	a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 others(14): Show a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0162 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0158 a0002c0012t0013g0161 a0002c0012t0019g0157 a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0011c0022t0004g0009	17	220	0.0773	0	c.221 others(6): Show c.2214+8G>A		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28				chr20	TogoVar
ATRX_chrX_77499880_77791216	77663378	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	218	0.0046	0	c.412 others(6): Show c.4120+4A>C		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	12/34				chrX	TogoVar
ATR_chr3_142444235_142583733	142493318	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18961.hp2 NA18998.hp2 NA19010.hp1 NA18961.hp2 NA18998.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0075	3	322	0.0093	-1	c.589 others(7): Show c.5899-8delT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46				chr3	TogoVar
ATR_chr3_142444235_142583733	142553821	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0291 a0002c0002t0001g0291	1	322	0.0031	0	c.253 others(6): Show c.2532+4G>A		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	11/46				chr3	TogoVar

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