Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
ATP6V1D_chr14_67332872_67364804	67355449	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(106): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19059.hp1 NA19063.hp2 NA19070.hp2 NA19075.hp2 NA19080.hp2 NA19081.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0004t0002	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 others(57): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0005g0204 a0002c0004t0002g0065	109	348	0.3132	-3	c.42- others(18): Show c.42-2412_42-2410delTTT		ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	1/8						chr14	TogoVar
ATP6V1D_chr14_67332872_67364804	67362334	CTTG CTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02970.hp2 others(2): Show HG02622.hp2 HG02886.hp2 HG02970.hp2 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173	5	348	0.0144	-3	c.-26 others(14): Show c.-2639_-2637delCAA		ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding					2531		chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17593282	AAAC AAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02258.hp2 others(9): Show HG01243.hp2 HG01891.hp2 HG02258.hp2 HG02622.hp2 HG02965.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0006 a0001c0002t0009	a0001c0002t0006g0019 a0001c0002t0006g0042 a0001c0002t0006g0043 others(8): Show a0001c0002t0006g0019 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0006g0180 a0001c0002t0006g0182 a0001c0002t0009g0204 a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0002t0009g0285	12	370	0.0324	-3	c.619 others(18): Show c.619-549_619-547delGTT		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	8/8						chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17597527	TAGA TAGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02258.hp2 others(7): Show HG01243.hp2 HG01891.hp2 HG02258.hp2 HG02622.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0006 a0001c0002t0009	a0001c0002t0006g0019 a0001c0002t0006g0042 a0001c0002t0006g0043 others(6): Show a0001c0002t0006g0019 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0006g0180 a0001c0002t0006g0182 a0001c0002t0009g0204 a0001c0002t0009g0285	10	370	0.0270	-3	c.530 others(18): Show c.530+664_530+666delTCT		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	7/8						chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17602343	AAGT AAGT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02622.hp1 others(10): Show HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0170 a0001c0001t0003g0020 a0001c0001t0003g0021 others(8): Show a0001c0001t0001g0170 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203	13	370	0.0351	-3	c.277 others(20): Show c.277-1165_277-1163delACT		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/8						chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17609115	AAAC AAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00639.hp2 others(106): Show HG00140.hp2 HG00408.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0009 a0003c0008t0002 a0004c0007t0002	a0001c0001t0001g0045 a0001c0001t0001g0150 a0001c0001t0001g0191 others(100): Show a0001c0001t0001g0045 a0001c0001t0001g0150 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 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 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0320 a0001c0001t0003g0238 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0004g0010 a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0305 a0001c0001t0005g0138 a0001c0001t0005g0149 a0001c0001t0014g0324 a0001c0002t0009g0285 a0003c0008t0002g0193 a0004c0007t0002g0233	109	370	0.2946	-3	c.276 others(20): Show c.276+3694_276+3696delGTT		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/8						chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17624232	TAGA TAGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp1 NA18942.hp1 others(1): Show HG00544.hp2 HG02083.hp1 NA18942.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0059	4	370	0.0108	-3	c.33+ others(18): Show c.33+4368_33+4370delTCT		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	1/8						chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	ATTT ATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG02683.hp2 others(7): Show HG00733.hp2 HG01168.hp1 HG02683.hp2 NA18955.hp2 NA18956.hp2 NA18998.hp2 NA19007.hp1 NA19012.hp1 NA19084.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0008 a0001c0001 a0001c0005 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0003c0008t0002	a0001c0001t0002g0026 a0001c0001t0002g0250 a0001c0001t0002g0258 others(6): Show a0001c0001t0002g0026 a0001c0001t0002g0250 a0001c0001t0002g0258 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0003g0299 a0001c0005t0001g0054 a0003c0008t0002g0193	10	370	0.0270	-3	c.-30 others(14): Show c.-3074_-3072delAAA		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding					2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17632743	ATTC ATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01361.hp1 others(4): Show HG01074.hp1 HG01081.hp1 HG01361.hp1 HG02723.hp1 HG02965.hp2 HG03492.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0009 a0001c0001t0002 a0001c0001t0004 a0001c0002t0009	a0001c0001t0002g0260 a0001c0001t0004g0010 a0001c0001t0004g0208 others(2): Show a0001c0001t0002g0260 a0001c0001t0004g0010 a0001c0001t0004g0208 a0001c0002t0009g0224 a0001c0002t0009g0225	7	370	0.0189	-3	c.-41 others(14): Show c.-4111_-4109delGAA		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding					3995		chr22	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128861347	CTTT CTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02109.hp2 others(7): Show HG01099.hp2 HG01891.hp1 HG02109.hp2 HG02572.hp1 HG02717.hp2 HG02818.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0031	a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0009g0004 others(2): Show a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0009g0004 a0001c0001t0012g0027 a0001c0001t0031g0002	10	442	0.0226	-3	c.-50 others(14): Show c.-5062_-5060delTTT		ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding					4982		chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128870314	ATCT ATCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp1 others(92): Show HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19059.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19086.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0002 a0001c0001t0031 a0001c0001t0032 others(3): Show a0001c0001t0002 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0002c0002t0002 a0007c0011t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0015 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0031g0002 a0001c0001t0032g0002 a0001c0001t0033g0002 a0002c0002t0002g0002 a0007c0011t0002g0002	95	442	0.2149	-3	c.15 others(14): Show c.1545_*1547delTTC		ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	2/2				1545	INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128861347	CTTT CTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02109.hp1 others(7): Show HG01099.hp1 HG01891.hp1 HG02109.hp1 HG02572.hp1 HG02717.hp2 HG02818.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0002c0003t0005 a0001c0001t0002 a0002c0003t0001 a0002c0003t0005	a0001c0001t0002g0005 a0002c0003t0001g0007 a0002c0003t0005g0007 a0001c0001t0002g0005 a0002c0003t0001g0007 a0002c0003t0005g0007	10	442	0.0226	-3	c.-15 others(14): Show c.-1557_-1555delTTT		ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding					1508		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128870314	ATCT ATCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(93): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp1 HG03942.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18976.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0002c0003t0001g0007 a0003c0004t0001g0002	96	442	0.2172	-3	c.47 others(14): Show c.4737_*4739delTCT		ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding					4468		chr7	TogoVar
ATP6V1G2_chr6_31539444_31551608	31543036	TTCC TTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp1 others(43): Show HG00558.hp1 HG00558.hp2 HG00741.hp1 HG01081.hp1 HG02602.hp2 HG02683.hp1 HG02922.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18962.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18991.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0005 a0001c0001t0005g0010 a0001c0001t0003g0005 a0001c0001t0005g0010	46	435	0.1058	-3	c.23 others(14): Show c.2369_*2371delGGA		ATP6V1G2	ENSG00000213760.11	transcript	ENST00000303892.10	protein_coding					1407		chr6	TogoVar
ATP6V1H_chr8_53710543_53848245	53720294	CCTA CCTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02809.hp2 others(11): Show HG02055.hp1 HG02572.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(11): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0085 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261	14	286	0.0490	-3	c.139 others(22): Show c.1392-4273_1392-4271delTAG		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	13/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765457	ACAC ACAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG02145.hp2 others(8): Show HG00741.hp1 HG01109.hp1 HG02145.hp2 HG02486.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040	11	286	0.0385	-3	c.117 others(22): Show c.1175+4158_1175+4160delGTG		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53772903	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00621.hp1 others(70): Show HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01169.hp2 HG01257.hp2 HG01358.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02280.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19012.hp1 NA19055.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0002 a0001c0001t0001 a0001c0001t0002 a0003c0004t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0262 others(70): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0262 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0263 a0001c0001t0002g0264 a0003c0004t0002g0133	73	286	0.2552	-3	c.871 others(18): Show c.871-739_871-737delTTT		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	9/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53821078	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02559.hp2 others(23): Show HG02055.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(23): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0280 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261	26	286	0.0909	-3	c.307 others(20): Show c.307-3551_307-3549delCTT		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13						chr8	TogoVar
ATP7A_chrX_77905693_78055395	77908667	TAAA TAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	233	0.0043	-3	c.-21 others(14): Show c.-2189_-2187delAAA		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding					2025		chrX	TogoVar
ATP7A_chrX_77905693_78055395	77956726	CCTT CCTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04204.hp1 HG02165.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0227 a0001c0001t0005g0144 a0001c0001t0005g0227	2	233	0.0086	-3	c.-21 others(22): Show c.-21-14894_-21-14892delCTT		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22						chrX	TogoVar
ATP7A_chrX_77905693_78055395	77978787	TATG TATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	233	0.0043	-3	c.120 others(20): Show c.120+7029_120+7031delGAT		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	2/22					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78005720	GAAA GAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	233	0.0043	-3	c.170 others(22): Show c.1707+2489_1707+2491delAAA		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	6/22					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78040199	GCCC GCCC	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02300.hp1 HG02559.hp1 others(1): Show HG01258.hp1 HG02300.hp1 HG02559.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0001c0001t0003 a0002c0002t0002 a0002c0002t0003	a0001c0001t0003g0015 a0002c0002t0002g0059 a0002c0002t0002g0077 others(1): Show a0001c0001t0003g0015 a0002c0002t0002g0059 a0002c0002t0002g0077 a0002c0002t0003g0117	4	233	0.0172	-3	c.365 others(20): Show c.3659-383_3659-381delCCC		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	18/22					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78042718	CTAA CTAA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18974.hp1 NA18974.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0026 a0010c0010t0026	a0010c0010t0026g0104 a0010c0010t0026g0104	1	233	0.0043	-3	c.393 others(12): Show c.3937_3939delAAT	p.Asn others(7): Show p.Asn1313del	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	20/23	4101/8492	3937/4503	1313/1500		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78043010	TGAA TGAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	233	0.0043	-3	c.400 others(20): Show c.4005+231_4005+233delAGA		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	20/22					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78047554	TTTG TTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA19074.hp2 NA18965.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0011g0225 a0001c0001t0011g0226	2	233	0.0086	-3	c.10 others(14): Show c.1015_*1017delTTG		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	23/23				1015	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51940000	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp1 HG01099.hp1 others(31): Show HG00544.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02135.hp2 HG02486.hp2 HG02602.hp1 HG02723.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18967.hp2 NA18978.hp1 NA19055.hp1 NA19080.hp2 NA19082.hp1 NA20905.hp2 NA21309.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0007 a0016	a0002c0002 a0002c0011 a0002c0019 others(6): Show a0002c0002 a0002c0011 a0002c0019 a0003c0003 a0003c0005 a0005c0006 a0005c0012 a0007c0010 a0016c0017	a0002c0002t0002 a0002c0011t0010 a0002c0011t0018 others(14): Show a0002c0002t0002 a0002c0011t0010 a0002c0011t0018 a0002c0019t0002 a0003c0003t0004 a0003c0003t0006 a0003c0003t0008 a0003c0005t0004 a0003c0005t0010 a0003c0005t0012 a0005c0006t0004 a0005c0006t0005 a0005c0006t0024 a0005c0012t0001 a0005c0012t0003 a0007c0010t0006 a0016c0017t0002	a0002c0002t0002g0038 a0002c0002t0002g0046 a0002c0002t0002g0053 others(28): Show a0002c0002t0002g0038 a0002c0002t0002g0046 a0002c0002t0002g0053 a0002c0002t0002g0068 a0002c0002t0002g0100 a0002c0002t0002g0112 a0002c0011t0010g0080 a0002c0011t0018g0035 a0002c0019t0002g0101 a0003c0003t0004g0125 a0003c0003t0006g0013 a0003c0003t0006g0181 a0003c0003t0008g0017 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0025 a0003c0005t0004g0026 a0003c0005t0004g0074 a0003c0005t0010g0020 a0003c0005t0012g0021 a0005c0006t0004g0009 a0005c0006t0004g0121 a0005c0006t0004g0123 a0005c0006t0004g0154 a0005c0006t0005g0158 a0005c0006t0024g0124 a0005c0012t0001g0176 a0005c0012t0003g0128 a0005c0012t0003g0129 a0007c0010t0006g0254 a0016c0017t0002g0036	34	302	0.1126	-3	c.355 others(20): Show c.3557-810_3557-808delAAA		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	16/20						chr13	TogoVar
ATP7B_chr13_51927669_52016450	51950749	GGGA GGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01099.hp1 others(11): Show HG00323.hp1 HG00544.hp2 HG01099.hp1 HG02602.hp1 HG02738.hp2 HG03017.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA19003.hp2 NA19080.hp2 NA19082.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0011 a0003c0005 a0002c0011 a0003c0005	a0002c0011t0010 a0002c0011t0018 a0003c0005t0004 others(3): Show a0002c0011t0010 a0002c0011t0018 a0003c0005t0004 a0003c0005t0005 a0003c0005t0010 a0003c0005t0012	a0002c0011t0010g0080 a0002c0011t0010g0082 a0002c0011t0018g0035 others(11): Show a0002c0011t0010g0080 a0002c0011t0010g0082 a0002c0011t0018g0035 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0024 a0003c0005t0004g0025 a0003c0005t0004g0026 a0003c0005t0004g0029 a0003c0005t0004g0074 a0003c0005t0005g0253 a0003c0005t0010g0020 a0003c0005t0012g0021 a0003c0005t0012g0058	14	302	0.0464	-3	c.244 others(20): Show c.2448-353_2448-351delTCC		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20						chr13	TogoVar
ATP7B_chr13_51927669_52016450	51963736	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02738.hp1 HG02895.hp1 others(7): Show HG02135.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03209.hp1 NA18970.hp2 NA18984.hp1 NA18999.hp1 NA19055.hp2	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0014	a0002c0002 a0003c0003 a0008c0008 others(1): Show a0002c0002 a0003c0003 a0008c0008 a0014c0024	a0002c0002t0009 a0003c0003t0004 a0003c0003t0016 others(2): Show a0002c0002t0009 a0003c0003t0004 a0003c0003t0016 a0008c0008t0001 a0014c0024t0005	a0002c0002t0009g0010 a0003c0003t0004g0125 a0003c0003t0004g0137 others(6): Show a0002c0002t0009g0010 a0003c0003t0004g0125 a0003c0003t0004g0137 a0003c0003t0004g0139 a0003c0003t0004g0140 a0003c0003t0004g0141 a0003c0003t0016g0127 a0008c0008t0001g0266 a0014c0024t0005g0169	10	302	0.0331	-3	c.186 others(22): Show c.1869+1133_1869+1135delTTT		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	5/20						chr13	TogoVar
ATP7B_chr13_51927669_52016450	52015934	CAGA CAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02897.hp1 HG02486.hp1 HG02895.hp1 HG02897.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0009 a0004c0004t0001 a0002c0002t0009 a0004c0004t0001	a0002c0002t0009g0010 a0004c0004t0001g0160 a0002c0002t0009g0010 a0004c0004t0001g0160	3	302	0.0099	-3	c.-46 others(14): Show c.-4600_-4598delTCT		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding					4485		chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42414067	CGTA CGTA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01081.hp1 others(27): Show HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp1 HG01943.hp1 HG01952.hp1 HG02074.hp1 HG02280.hp1 HG02293.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18956.hp2 NA18978.hp2 NA18988.hp2 NA19030.hp1 NA19043.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0009	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(8): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0002t0008 a0001c0002t0009 a0001c0003t0008 a0001c0003t0009 a0004c0009t0008	a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0064 others(27): Show a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0064 a0001c0001t0008g0084 a0001c0001t0008g0093 a0001c0001t0008g0095 a0001c0001t0008g0100 a0001c0001t0008g0137 a0001c0001t0009g0205 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0009g0221 a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0278 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0033g0304 a0001c0001t0035g0244 a0001c0001t0036g0195 a0001c0002t0008g0166 a0001c0002t0008g0167 a0001c0002t0009g0185 a0001c0003t0008g0145 a0001c0003t0009g0287 a0004c0009t0008g0114	30	310	0.0968	-3	c.339 others(20): Show c.3397+557_3397+559delTAC		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	36/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448828	GTTT GTTT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02818.hp2 others(9): Show HG01099.hp2 HG02257.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0002c0007	a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 others(4): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 a0001c0004t0010 a0002c0005t0004 a0002c0005t0031 a0002c0007t0001	a0001c0001t0010g0291 a0001c0001t0012g0289 a0001c0001t0012g0290 others(9): Show a0001c0001t0010g0291 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0303 a0001c0001t0012g0308 a0001c0001t0027g0023 a0001c0004t0010g0299 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0133	12	310	0.0387	-3	c.289 others(22): Show c.2897-2187_2897-2185delAAA		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42460379	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02965.hp1 others(7): Show HG02622.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03516.hp1 HG03540.hp1 NA18953.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 a0001c0004t0003	a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0010g0291 others(7): Show a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0010g0291 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0302 a0001c0001t0012g0303 a0001c0001t0012g0308 a0001c0001t0027g0023 a0001c0004t0003g0297	10	310	0.0323	-3	c.261 others(22): Show c.2619+4308_2619+4310delAAA		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	27/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42507780	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02145.hp1 others(11): Show HG01099.hp2 HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0004 a0002c0005t0004 a0002c0005t0019 a0002c0005t0031 a0002c0007t0001	a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0004g0031 others(11): Show a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0004g0031 a0001c0001t0015g0011 a0001c0002t0004g0018 a0001c0002t0004g0030 a0001c0002t0004g0109 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0019g0138 a0002c0005t0019g0139 a0002c0005t0031g0307 a0002c0007t0001g0133	14	310	0.0452	-3	c.194 others(20): Show c.1948-629_1948-627delTTT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	22/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42526215	CCTT CCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp1 others(72): Show HG00099.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG03239.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0003 a0003c0006 others(2): Show a0001c0001 a0001c0003 a0003c0006 a0006c0012 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 a0001c0003t0005 a0003c0006t0001 a0003c0006t0005 a0006c0012t0001 a0007c0011t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(72): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0004g0076 a0001c0001t0005g0186 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0265 a0001c0001t0005g0282 a0001c0001t0005g0309 a0001c0001t0006g0253 a0001c0001t0008g0017 a0001c0001t0008g0084 a0001c0001t0009g0205 a0001c0001t0028g0056 a0001c0001t0030g0126 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0227 a0001c0003t0005g0284 a0003c0006t0001g0159 a0003c0006t0001g0160 a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0229 a0006c0012t0001g0050 a0007c0011t0005g0228	75	310	0.2419	-3	c.172 others(22): Show c.1723-1371_1723-1369delAAG		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	20/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42540144	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG03130.hp2 others(2): Show HG02451.hp2 HG02647.hp2 HG03130.hp2 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0022 a0001c0004t0020	a0001c0001t0009g0223 a0001c0002t0002g0029 a0001c0002t0003g0188 others(2): Show a0001c0001t0009g0223 a0001c0002t0002g0029 a0001c0002t0003g0188 a0001c0002t0022g0001 a0001c0004t0020g0028	5	310	0.0161	-3	c.172 others(22): Show c.1722+3770_1722+3772delCTT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	20/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42550196	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(189): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.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.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0005 a0002c0007 a0003c0006 a0004c0009 a0005c0010 a0006c0012 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0022 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0020 a0001c0008t0006 a0002c0005t0004 a0002c0005t0019 a0002c0005t0031 a0002c0005t0034 a0002c0007t0001 a0003c0006t0001 a0003c0006t0005 a0004c0009t0008 a0005c0010t0014 a0006c0012t0001 a0007c0011t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(189): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0183 a0001c0001t0004g0025 a0001c0001t0004g0031 a0001c0001t0004g0043 a0001c0001t0004g0076 a0001c0001t0005g0186 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0265 a0001c0001t0005g0282 a0001c0001t0005g0301 a0001c0001t0005g0309 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0258 a0001c0001t0006g0264 a0001c0001t0006g0300 a0001c0001t0007g0045 a0001c0001t0007g0052 a0001c0001t0007g0070 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0125 a0001c0001t0007g0130 a0001c0001t0007g0142 a0001c0001t0007g0154 a0001c0001t0008g0017 a0001c0001t0008g0064 a0001c0001t0008g0077 a0001c0001t0008g0084 a0001c0001t0008g0093 a0001c0001t0008g0095 a0001c0001t0008g0100 a0001c0001t0008g0120 a0001c0001t0009g0205 a0001c0001t0009g0221 a0001c0001t0009g0223 a0001c0001t0009g0278 a0001c0001t0011g0002 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0001t0015g0003 a0001c0001t0015g0011 a0001c0001t0025g0010 a0001c0001t0027g0023 a0001c0001t0028g0056 a0001c0001t0030g0126 a0001c0001t0035g0244 a0001c0001t0036g0195 a0001c0002t0002g0029 a0001c0002t0002g0163 a0001c0002t0003g0188 a0001c0002t0004g0016 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0004g0030 a0001c0002t0004g0035 a0001c0002t0004g0068 a0001c0002t0004g0109 a0001c0002t0007g0096 a0001c0002t0007g0097 a0001c0002t0010g0225 a0001c0002t0010g0260 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0013g0108 a0001c0002t0014g0194 a0001c0002t0014g0276 a0001c0002t0022g0001 a0001c0003t0001g0173 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0227 a0001c0003t0005g0284 a0001c0003t0008g0145 a0001c0004t0003g0297 a0001c0004t0004g0099 a0001c0004t0004g0110 a0001c0004t0004g0134 a0001c0004t0004g0140 a0001c0004t0005g0306 a0001c0004t0010g0184 a0001c0004t0010g0283 a0001c0004t0010g0285 a0001c0004t0010g0286 a0001c0004t0010g0292 a0001c0004t0010g0295 a0001c0004t0010g0299 a0001c0004t0020g0028 a0001c0008t0006g0198 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0019g0138 a0002c0005t0019g0139 a0002c0005t0031g0307 a0002c0005t0034g0305 a0002c0007t0001g0133 a0003c0006t0001g0159 a0003c0006t0005g0229 a0004c0009t0008g0114 a0005c0010t0014g0277 a0006c0012t0001g0050 a0007c0011t0005g0228	192	310	0.6194	-3	c.160 others(21): Show c.1602+999_1602+1001delAAA		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	18/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555131	ATCT ATCT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02738.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG02738.hp2 HG03225.hp2 HG03491.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0280 others(3): Show a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0002t0004g0013 a0001c0002t0004g0035	6	310	0.0194	-3	c.141 others(20): Show c.1413+834_1413+836delAGA		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555143	TATC TATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG03540.hp2 others(1): Show HG00099.hp1 HG00621.hp2 HG03540.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0023 a0001c0001t0001 a0001c0002t0023	a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0002t0023g0008	4	310	0.0129	-3	c.141 others(20): Show c.1413+822_1413+824delGAT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555147	TATC TATC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp2 others(5): Show HG00738.hp2 HG01167.hp2 HG01169.hp2 HG01515.hp2 HG01884.hp1 HG02922.hp1 HG03041.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0004 a0001c0003t0005 a0002c0005t0004	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0176 others(5): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0176 a0001c0001t0004g0076 a0001c0001t0005g0202 a0001c0002t0004g0109 a0001c0003t0005g0218 a0002c0005t0004g0041	8	310	0.0258	-3	c.141 others(20): Show c.1413+818_1413+820delGAT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42584267	TGGA TGGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG02723.hp1 others(9): Show HG01167.hp1 HG02559.hp1 HG02723.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0009 a0001c0001t0027 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0027 a0001c0002t0004 a0001c0002t0023 a0001c0002t0026	a0001c0001t0004g0043 a0001c0001t0009g0223 a0001c0001t0027g0023 others(9): Show a0001c0001t0004g0043 a0001c0001t0009g0223 a0001c0001t0027g0023 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0004g0035 a0001c0002t0004g0131 a0001c0002t0023g0008 a0001c0002t0026g0012	12	310	0.0387	-3	c.722 others(20): Show c.722+2079_722+2081delTCC		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	9/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42633800	AGCT AGCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp1 others(62): Show HG00099.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01943.hp1 HG02074.hp2 HG02129.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18989.hp1 NA18990.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19064.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0030 a0001c0001t0033 a0001c0001t0038 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0020 a0001c0002t0023 a0001c0003t0008 a0003c0006t0001 a0003c0006t0005 a0007c0011t0005	a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 others(62): Show a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0094 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0058 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0005g0255 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0007g0151 a0001c0001t0007g0154 a0001c0001t0008g0093 a0001c0001t0008g0095 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0010g0291 a0001c0001t0011g0004 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0303 a0001c0001t0015g0011 a0001c0001t0018g0162 a0001c0001t0025g0010 a0001c0001t0030g0126 a0001c0001t0033g0304 a0001c0001t0038g0310 a0001c0002t0002g0163 a0001c0002t0004g0013 a0001c0002t0007g0096 a0001c0002t0007g0097 a0001c0002t0008g0166 a0001c0002t0008g0167 a0001c0002t0009g0185 a0001c0002t0020g0111 a0001c0002t0023g0008 a0001c0003t0008g0145 a0003c0006t0001g0159 a0003c0006t0001g0160 a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0229 a0007c0011t0005g0228	65	310	0.2097	-3	c.50- others(18): Show c.50-6694_50-6692delAGC		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36						chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636176	GCTT GCTT	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp2 NA18983.hp1 others(1): Show NA18969.hp1 NA18969.hp2 NA18983.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0049 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0049 a0001c0001t0005g0249	4	310	0.0129	-3	c.50- others(18): Show c.50-9070_50-9068delAAG		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36						chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25387164	TCTG TCTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp1 HG02615.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0049 a0001c0006t0043 a0001c0004t0049 a0001c0006t0043	a0001c0004t0049g0086 a0001c0006t0043g0095 a0001c0004t0049g0086 a0001c0006t0043g0095	2	122	0.0164	-3	c.76+ others(20): Show c.76+14878_76+14880delTGC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25429031	TATC TATC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02886.hp1 others(1): Show HG02055.hp1 HG02723.hp2 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0062 a0001c0007t0001 a0001c0007t0005 others(1): Show a0001c0003t0062 a0001c0007t0001 a0001c0007t0005 a0001c0007t0007	a0001c0003t0062g0024 a0001c0007t0001g0081 a0001c0007t0005g0021 others(1): Show a0001c0003t0062g0024 a0001c0007t0001g0081 a0001c0007t0005g0021 a0001c0007t0007g0094	4	122	0.0328	-3	c.77- others(20): Show c.77-39945_77-39943delATC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36						chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25461852	AAGG AAGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03195.hp2 HG01175.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0018 a0001c0005 a0001c0018	a0001c0005t0023 a0001c0018t0007 a0001c0005t0023 a0001c0018t0007	a0001c0005t0023g0002 a0001c0018t0007g0029 a0001c0005t0023g0002 a0001c0018t0007g0029	2	122	0.0164	-3	c.77- others(18): Show c.77-7099_77-7097delGGA		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25499797	TATA TATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01175.hp1 others(13): Show HG00738.hp2 HG01070.hp2 HG01175.hp1 HG01261.hp1 HG01981.hp2 HG02280.hp1 HG02622.hp2 HG02965.hp2 HG03225.hp2 HG03490.hp1 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(12): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0040 a0001c0001t0042 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0005 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0009t0037	a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 others(13): Show a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0015g0082 a0001c0001t0018g0041 a0001c0001t0040g0038 a0001c0001t0042g0059 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0002t0001g0039 a0001c0002t0005g0034 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0009t0037g0008	16	122	0.1312	-3	c.222 others(22): Show c.222-30197_222-30195delTAA		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25511838	ACTT ACTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp1 NA20300.hp1 HG02965.hp1 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0046 a0001c0001t0066 a0001c0001t0041 a0001c0001t0046 a0001c0001t0066	a0001c0001t0041g0044 a0001c0001t0046g0045 a0001c0001t0066g0092 a0001c0001t0041g0044 a0001c0001t0046g0045 a0001c0001t0066g0092	3	122	0.0246	-3	c.222 others(22): Show c.222-18155_222-18153delTCT		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25560700	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02965.hp1 others(6): Show HG02615.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0024 a0001c0001t0030 a0001c0001t0041 others(6): Show a0001c0001t0024 a0001c0001t0030 a0001c0001t0041 a0001c0001t0046 a0001c0001t0054 a0001c0001t0064 a0001c0001t0066 a0001c0005t0023 a0001c0009t0038	a0001c0001t0024g0003 a0001c0001t0030g0087 a0001c0001t0041g0044 others(6): Show a0001c0001t0024g0003 a0001c0001t0030g0087 a0001c0001t0041g0044 a0001c0001t0046g0045 a0001c0001t0054g0103 a0001c0001t0064g0072 a0001c0001t0066g0092 a0001c0005t0023g0002 a0001c0009t0038g0112	9	122	0.0738	-3	c.139 others(20): Show c.1397+957_1397+959delAAA		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	15/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25587081	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01496.hp2 others(1): Show HG01069.hp1 HG01071.hp1 HG01496.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0059 a0001c0004t0002 a0001c0004t0004 a0001c0001t0059 a0001c0004t0002 a0001c0004t0004	a0001c0001t0059g0022 a0001c0004t0002g0049 a0001c0004t0002g0080 others(1): Show a0001c0001t0059g0022 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0004g0048	4	122	0.0328	-3	c.214 others(22): Show c.2147-2550_2147-2548delAAG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	23/36					INFO_REALIGN_3_PRIME	chr13	TogoVar

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