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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALX4_chr11_44255440_44315139	44310286	TCC TCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(176): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0030 a0002c0003 a0002c0004 a0002c0008 a0003c0006 a0003c0013 a0003c0014 a0003c0017 a0003c0019 a0003c0021 a0005c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0002t0057 a0001c0005t0006 a0001c0005t0008 a0001c0030t0026 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0010 a0002c0003t0017 a0002c0003t0018 a0002c0003t0041 a0002c0003t0045 a0002c0003t0047 a0002c0003t0049 a0002c0003t0054 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0008 a0002c0004t0012 a0002c0004t0014 a0002c0004t0019 a0002c0004t0020 a0002c0004t0022 a0002c0004t0034 a0002c0004t0035 a0002c0004t0037 a0002c0004t0039 a0002c0004t0046 a0002c0008t0004 a0002c0008t0005 a0002c0008t0006 a0002c0008t0012 a0002c0008t0051 a0002c0008t0063 a0003c0006t0009 a0003c0006t0015 a0003c0006t0032 a0003c0013t0001 a0003c0014t0003 a0003c0017t0002 a0003c0019t0059 a0003c0021t0027 a0005c0018t0001	a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0270 others(174): Show a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0256 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0338 a0001c0001t0004g0239 a0001c0001t0004g0288 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0336 a0001c0001t0018g0335 a0001c0001t0043g0297 a0001c0002t0001g0287 a0001c0002t0002g0241 a0001c0002t0003g0344 a0001c0002t0005g0237 a0001c0002t0005g0238 a0001c0002t0005g0283 a0001c0002t0005g0290 a0001c0002t0005g0337 a0001c0002t0006g0331 a0001c0002t0007g0234 a0001c0002t0007g0281 a0001c0002t0011g0301 a0001c0002t0015g0205 a0001c0002t0057g0334 a0001c0005t0006g0285 a0001c0005t0008g0005 a0001c0030t0026g0302 a0002c0003t0001g0001 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0081 a0002c0003t0001g0095 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0115 a0002c0003t0001g0124 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0135 a0002c0003t0001g0138 a0002c0003t0001g0142 a0002c0003t0001g0147 a0002c0003t0001g0153 a0002c0003t0001g0159 a0002c0003t0001g0162 a0002c0003t0002g0042 a0002c0003t0002g0088 a0002c0003t0002g0118 a0002c0003t0002g0155 a0002c0003t0002g0157 a0002c0003t0004g0077 a0002c0003t0004g0100 a0002c0003t0004g0116 a0002c0003t0004g0145 a0002c0003t0005g0082 a0002c0003t0005g0099 a0002c0003t0006g0148 a0002c0003t0010g0052 a0002c0003t0010g0083 a0002c0003t0010g0084 a0002c0003t0010g0126 a0002c0003t0010g0129 a0002c0003t0010g0134 a0002c0003t0010g0163 a0002c0003t0017g0136 a0002c0003t0018g0061 a0002c0003t0018g0087 a0002c0003t0041g0137 a0002c0003t0045g0113 a0002c0003t0047g0114 a0002c0003t0049g0146 a0002c0003t0054g0104 a0002c0004t0001g0120 a0002c0004t0001g0133 a0002c0004t0001g0165 a0002c0004t0002g0076 a0002c0004t0002g0106 a0002c0004t0002g0108 a0002c0004t0002g0154 a0002c0004t0003g0054 a0002c0004t0003g0057 a0002c0004t0003g0109 a0002c0004t0003g0122 a0002c0004t0003g0123 a0002c0004t0003g0156 a0002c0004t0004g0117 a0002c0004t0004g0151 a0002c0004t0005g0058 a0002c0004t0005g0085 a0002c0004t0005g0090 a0002c0004t0005g0093 a0002c0004t0005g0125 a0002c0004t0005g0139 a0002c0004t0005g0141 a0002c0004t0005g0143 a0002c0004t0005g0144 a0002c0004t0005g0160 a0002c0004t0005g0161 a0002c0004t0006g0101 a0002c0004t0006g0127 a0002c0004t0007g0043 a0002c0004t0008g0096 a0002c0004t0008g0152 a0002c0004t0012g0078 a0002c0004t0014g0056 a0002c0004t0014g0070 a0002c0004t0014g0107 a0002c0004t0014g0164 a0002c0004t0019g0079 a0002c0004t0020g0158 a0002c0004t0022g0074 a0002c0004t0022g0128 a0002c0004t0034g0140 a0002c0004t0035g0121 a0002c0004t0037g0091 a0002c0004t0039g0092 a0002c0004t0046g0069 a0002c0008t0004g0086 a0002c0008t0004g0150 a0002c0008t0005g0046 a0002c0008t0005g0048 a0002c0008t0005g0094 a0002c0008t0005g0149 a0002c0008t0006g0049 a0002c0008t0006g0071 a0002c0008t0006g0080 a0002c0008t0012g0089 a0002c0008t0012g0131 a0002c0008t0051g0059 a0002c0008t0063g0111 a0003c0006t0009g0026 a0003c0006t0015g0013 a0003c0006t0032g0018 a0003c0013t0001g0009 a0003c0013t0001g0012 a0003c0014t0003g0040 a0003c0017t0002g0008 a0003c0019t0059g0010 a0003c0021t0027g0019 a0005c0018t0001g0011	179	388	0.4613	-2	c.-22 others(11): Show c.-226_-225delGG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding		148		chr11	TogoVar
AMACR_chr5_33981165_34013050	33985012	TTC TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02451.hp1 others(5): Show HG01243.hp1 HG01891.hp2 HG02451.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG03225.hp2 HG03486.hp2	a0006 a0010 a0014 a0006 a0010 a0014	a0006c0006 a0010c0011 a0014c0015 a0006c0006 a0010c0011 a0014c0015	a0006c0006t0004 a0010c0011t0004 a0014c0015t0012 a0006c0006t0004 a0010c0011t0004 a0014c0015t0012	a0006c0006t0004g0038 a0006c0006t0004g0055 a0006c0006t0004g0075 others(3): Show a0006c0006t0004g0038 a0006c0006t0004g0055 a0006c0006t0004g0075 a0006c0006t0004g0081 a0010c0011t0004g0089 a0014c0015t0012g0036	8	438	0.0183	-2	c.40 others(13): Show c.4079_*4080delGA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		1152		chr5	TogoVar
AMACR_chr5_33981165_34013050	33985058	TTC TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp1 NA19030.hp1 HG01884.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0029 a0001c0001t0017 a0001c0001t0029	a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0029g0097 a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0029g0097	3	438	0.0069	-2	c.40 others(13): Show c.4033_*4034delGA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		1106		chr5	TogoVar
AMACR_chr5_33981165_34013050	33985621	TTC TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03139.hp2 HG03516.hp1 HG02615.hp2 HG03139.hp2 HG03516.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0012 a0001c0001 a0012c0012	a0001c0001t0014 a0012c0012t0002 a0001c0001t0014 a0012c0012t0002	a0001c0001t0014g0053 a0012c0012t0002g0088 a0001c0001t0014g0053 a0012c0012t0002g0088	3	438	0.0069	-2	c.34 others(13): Show c.3470_*3471delGA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		543		chr5	TogoVar
AMACR_chr5_33981165_34013050	33985659	TTC TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0002 a0001c0001t0016 a0002c0002t0002	a0001c0001t0016g0046 a0002c0002t0002g0003 a0001c0001t0016g0046 a0002c0002t0002g0003	3	438	0.0069	-2	c.34 others(13): Show c.3432_*3433delGA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		505		chr5	TogoVar
AMACR_chr5_33981165_34013050	33993335	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02809.hp1 others(4): Show HG02257.hp2 HG02622.hp2 HG02809.hp1 HG03471.hp1 HG03486.hp1 NA19240.hp2 NA20300.hp2	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0013	a0001c0001 a0008c0008 a0009c0009 others(1): Show a0001c0001 a0008c0008 a0009c0009 a0013c0014	a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 others(3): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0008c0008t0011 a0009c0009t0002 a0013c0014t0035	a0001c0001t0007g0165 a0001c0001t0011g0050 a0001c0001t0013g0175 others(3): Show a0001c0001t0007g0165 a0001c0001t0011g0050 a0001c0001t0013g0175 a0008c0008t0011g0115 a0009c0009t0002g0166 a0013c0014t0035g0076	7	438	0.0160	-2	c.740 others(19): Show c.740-3835_740-3834delAA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	4/4			chr5	TogoVar
AMACR_chr5_33981165_34013050	34012635	TAA TAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01884.hp1 HG01975.hp1 others(11): Show HG00099.hp1 HG01884.hp1 HG01975.hp1 HG02109.hp1 HG02622.hp1 HG02896.hp1 HG03041.hp1 HG04204.hp1 NA18941.hp1 NA18941.hp2 NA18979.hp1 NA19030.hp1 NA19084.hp1 NA19091.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006 a0008c0008	a0001c0001t0017 a0001c0001t0029 a0002c0002t0001 others(5): Show a0001c0001t0017 a0001c0001t0029 a0002c0002t0001 a0002c0002t0002 a0004c0004t0003 a0006c0006t0002 a0006c0006t0007 a0008c0008t0007	a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0029g0097 others(8): Show a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0029g0097 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0002g0003 a0004c0004t0003g0018 a0006c0006t0002g0079 a0006c0006t0007g0037 a0008c0008t0007g0042	14	438	0.0320	-2	c.-46 others(13): Show c.-4618_-4617delTT	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		4586		chr5	TogoVar
AMBN_chr4_70587256_70612288	70588675	GTC GTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01167.hp2 others(41): Show HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01192.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0009 a0010 a0012 a0014	a0001c0001 a0001c0002 a0003c0007 others(6): Show a0001c0001 a0001c0002 a0003c0007 a0003c0008 a0004c0006 a0009c0014 a0010c0033 a0012c0019 a0014c0032	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0003c0007t0006 a0003c0008t0002 a0004c0006t0004 a0009c0014t0001 a0010c0033t0001 a0012c0019t0002 a0014c0032t0001	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0043 others(32): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0002g0045 a0001c0002t0001g0013 a0001c0002t0001g0023 a0001c0002t0002g0013 a0001c0002t0002g0109 a0001c0002t0002g0191 a0001c0002t0004g0013 a0001c0002t0004g0046 a0001c0002t0004g0094 a0001c0002t0005g0018 a0001c0002t0005g0023 a0001c0002t0005g0095 a0001c0002t0005g0111 a0001c0002t0005g0114 a0001c0002t0007g0181 a0001c0002t0011g0101 a0003c0007t0006g0025 a0003c0007t0006g0117 a0003c0008t0002g0069 a0003c0008t0002g0106 a0004c0006t0004g0070 a0004c0006t0004g0167 a0004c0006t0004g0180 a0009c0014t0001g0102 a0009c0014t0001g0103 a0010c0033t0001g0206 a0012c0019t0002g0063 a0014c0032t0001g0104	44	480	0.0917	-2	c.-36 others(13): Show c.-3683_-3682delTC	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3580		chr4	TogoVar
AMBN_chr4_70587256_70612288	70590506	GCA GCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01361.hp1 HG01433.hp1 others(15): Show HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG02109.hp1 HG02273.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA19010.hp2 NA19057.hp1 NA19081.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0010 a0012 a0021	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0004c0006 a0006c0023 a0010c0033 a0012c0019 a0021c0025	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(8): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0004t0001 a0002c0003t0001 a0004c0006t0004 a0006c0023t0002 a0010c0033t0001 a0012c0019t0002 a0021c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0002t0002g0191 a0001c0002t0002g0208 a0001c0002t0005g0149 a0001c0002t0007g0181 a0001c0004t0001g0008 a0002c0003t0001g0006 a0004c0006t0004g0167 a0004c0006t0004g0180 a0006c0023t0002g0198 a0010c0033t0001g0206 a0012c0019t0002g0063 a0021c0025t0001g0015	18	480	0.0375	-2	c.-18 others(13): Show c.-1852_-1851delCA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		1749		chr4	TogoVar
AMBN_chr4_70587256_70612288	70603631	GAC GAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG02004.hp2 others(9): Show HG00738.hp1 HG01099.hp1 HG02004.hp2 HG02055.hp2 HG02647.hp1 HG03225.hp2 HG03579.hp2 HG03704.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0003c0007t0006 a0004c0006t0002	a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0091 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0002t0002g0217 a0001c0002t0004g0046 a0001c0002t0005g0114 a0003c0007t0006g0117 a0004c0006t0002g0129	12	480	0.0250	-2	c.753 others(17): Show c.753+188_753+189delAC	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
AMBP_chr9_114055127_114083300	114058188	AGG AGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp1 others(38): Show HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01099.hp1 HG01109.hp2 HG01346.hp2 HG01884.hp1 HG01928.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02602.hp2 HG02615.hp1 HG02723.hp1 HG03041.hp2 HG03486.hp2 HG03831.hp2 HG03834.hp2 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18949.hp2 NA18952.hp1 NA18962.hp1 NA18964.hp2 NA18975.hp1 NA18982.hp2 NA18993.hp1 NA19001.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19085.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0019 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0148 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0004t0001g0305	41	454	0.0903	-2	c.20 others(13): Show c.2049_*2050delCC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding		1938		chr9	TogoVar
AMBP_chr9_114055127_114083300	114066029	GCC GCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(122): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0002g0249 a0001c0004t0001g0306 a0002c0003t0001g0056 a0002c0003t0001g0261 a0002c0003t0001g0262	125	454	0.2753	-2	c.604 others(19): Show c.604-3273_604-3272delGG	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBP_chr9_114055127_114083300	114066376	CGT CGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02630.hp2 others(10): Show HG01109.hp1 HG02280.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA18970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0001t0001 a0001c0004t0001 a0001c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0067 a0001c0001t0001g0099 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0206 a0001c0004t0001g0305 a0001c0010t0001g0307	13	454	0.0286	-2	c.603 others(19): Show c.603+3321_603+3322delAC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBP_chr9_114055127_114083300	114068808	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01256.hp1 others(12): Show HG01074.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp2 HG01975.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02723.hp1 HG02922.hp2 HG03041.hp2 HG03453.hp2 HG03486.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0001t0001 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0176 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0176 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0278 a0001c0002t0001g0219 a0001c0010t0001g0307	15	454	0.0330	-2	c.603 others(17): Show c.603+889_603+890delTT	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBP_chr9_114055127_114083300	114079868	GTC GTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01106.hp1 others(22): Show HG00323.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG02257.hp1 HG02486.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0048 others(18): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0304	25	454	0.0551	-2	c.-16 others(13): Show c.-1661_-1660delGA	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding		1569		chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46406372	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01257.hp2 HG02451.hp1 others(7): Show HG01070.hp2 HG01257.hp2 HG02451.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp1 NA18747.hp2 NA18942.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0003g0017 a0001c0002t0002g0148 a0001c0005t0001g0012	10	160	0.0625	-2	c.340 others(21): Show c.3403+2139_3403+2140delTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46418244	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0022 a0001c0005t0001g0012 a0001c0005t0001g0022	2	160	0.0125	-2	c.297 others(19): Show c.2977-194_2977-193delTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46425310	TTG TTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02109.hp1 HG02129.hp1 others(18): Show HG00621.hp1 HG02109.hp1 HG02129.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03491.hp1 NA18906.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0003t0004 a0003c0011t0001 a0001c0001t0001 a0001c0003t0004 a0003c0011t0001	a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0098 others(18): Show a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0011 a0003c0011t0001g0118	21	160	0.1313	-2	c.297 others(21): Show c.2977-7260_2977-7259delCA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46459737	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01074.hp2 others(21): Show HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01981.hp2 HG02602.hp1 HG02886.hp2 HG03471.hp1 HG03491.hp2 HG03579.hp2 HG03710.hp2 NA18906.hp1 NA18942.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18984.hp1 NA18990.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0004c0006t0001 a0001c0001t0001 a0001c0001t0005 a0004c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0035 others(21): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0139 a0001c0001t0005g0001 a0001c0001t0005g0002 a0004c0006t0001g0089	24	160	0.1500	-2	c.252 others(23): Show c.2522-16141_2522-16140delAT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	11/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46459739	TAC TAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp1 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0155 a0001c0005t0001g0012 a0001c0001t0001g0155 a0001c0005t0001g0012	2	160	0.0125	-2	c.252 others(23): Show c.2522-16143_2522-16142delGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	11/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46517470	GTT GTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp1 HG02040.hp1 others(9): Show HG00673.hp2 HG01496.hp1 HG02040.hp1 HG02976.hp1 HG03139.hp2 HG03486.hp1 HG03654.hp1 HG04115.hp2 NA18747.hp2 NA18942.hp1 NA18971.hp2 NA19011.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0007 a0001c0001 a0001c0004 a0005c0007	a0001c0001t0001 a0001c0004t0001 a0005c0007t0001 a0001c0001t0001 a0001c0004t0001 a0005c0007t0001	a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0040 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0004t0001g0055 a0005c0007t0001g0058	12	160	0.0750	-2	c.207 others(21): Show c.2073-4659_2073-4658delAA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46528752	CTA CTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0010 a0001c0003t0004g0011	8	160	0.0500	-2	c.207 others(23): Show c.2072+13191_2072+13192delTA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46531252	CAG CAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0010 a0001c0003t0004g0011	8	160	0.0500	-2	c.207 others(23): Show c.2072+10691_2072+10692delCT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46540888	GCA GCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0022 a0001c0005t0001g0012 a0001c0005t0001g0022	2	160	0.0125	-2	c.207 others(21): Show c.2072+1055_2072+1056delTG	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46545161	CGG CGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01074.hp2 others(34): Show HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01981.hp2 HG02004.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18984.hp1 NA18990.hp2 NA19010.hp2 NA19082.hp1 NA19083.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0006 a0001c0001 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0004c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 others(34): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0005t0001g0012 a0004c0006t0001g0089	37	160	0.2313	-2	c.551 others(17): Show c.551+441_551+442delCC	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	5/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01192.hp1 others(17): Show HG00735.hp1 HG01070.hp1 HG01192.hp1 HG01257.hp1 HG01515.hp2 HG02109.hp1 HG02129.hp2 HG03453.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 NA18522.hp1 NA18747.hp1 NA18942.hp1 NA18964.hp2 NA18971.hp1 NA18984.hp2 NA19011.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0002c0008	a0001c0001t0001 a0001c0001t0006 a0001c0003t0004 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0004 a0001c0004t0001 a0001c0012t0001 a0002c0008t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0051 others(17): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0006g0003 a0001c0003t0004g0008 a0001c0003t0004g0010 a0001c0004t0001g0120 a0001c0012t0001g0094 a0002c0008t0001g0097	20	160	0.1250	-2	c.-12 others(21): Show c.-120-3870_-120-3869delTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46562803	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01074.hp2 others(57): Show HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01981.hp2 HG02004.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp1 NA18906.hp1 NA18942.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18984.hp1 NA18990.hp2 NA19010.hp2 NA19082.hp1 NA19083.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0005t0001 a0001c0009t0001 a0004c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(57): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0005t0001g0012 a0001c0005t0001g0022 a0001c0009t0001g0031 a0004c0006t0001g0089	60	160	0.3750	-2	c.-12 others(23): Show c.-120-14305_-120-14304delAA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46563066	GAA GAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02258.hp2 others(16): Show HG01243.hp2 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0001c0001t0001 a0001c0001t0003 a0001c0009t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(16): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0009t0001g0031	19	160	0.1188	-2	c.-12 others(23): Show c.-120-14568_-120-14567delTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46581797	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0119 a0001c0003t0001g0004 a0001c0003t0001g0005 others(5): Show a0001c0001t0001g0119 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0011	8	160	0.0500	-2	c.-12 others(23): Show c.-121+12029_-121+12030delTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46583650	TCC TCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG03139.hp2 others(1): Show HG02723.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0154	4	160	0.0250	-2	c.-12 others(23): Show c.-121+10176_-121+10177delGG	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMD1_chr6_110869785_110900713	110878717	TGA TGA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18983.hp2 NA19085.hp1 NA18954.hp2 NA18983.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	3	394	0.0076	-2	c.110 others(19): Show c.110+3506_110+3507delAG	AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
AMD1_chr6_110869785_110900713	110886222	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG02074.hp1 others(3): Show HG00323.hp2 HG01243.hp2 HG02074.hp1 HG02895.hp1 HG03834.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0003g0117 a0001c0001t0006g0033 a0001c0001t0016g0054	6	394	0.0152	-2	c.111 others(19): Show c.111-1267_111-1266delAA	AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
AMD1_chr6_110869785_110900713	110898198	GAT GAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02109.hp2 HG02280.hp1 others(10): Show HG02027.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp1 HG02683.hp2 HG02717.hp1 HG02895.hp1 HG03540.hp1 HG03579.hp2 HG04228.hp1 NA18954.hp1 NA18987.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0005 a0001c0001t0003g0002 a0001c0001t0004g0019 others(3): Show a0001c0001t0001g0005 a0001c0001t0003g0002 a0001c0001t0004g0019 a0001c0001t0004g0046 a0001c0001t0005g0127 a0001c0001t0016g0054	13	394	0.0330	-2	c.45 others(13): Show c.4583_*4584delAT	AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding		2486		chr6	TogoVar
AMD1_chr6_110869785_110900713	110899071	CTT CTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(33): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG01192.hp1 HG01256.hp1 HG02015.hp2 HG02683.hp2 HG02738.hp1 HG02895.hp1 HG03516.hp1 HG03654.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18947.hp2 NA18955.hp1 NA18971.hp1 NA18977.hp2 NA18985.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(19): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0002g0102 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0018 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0120 a0001c0001t0004g0030 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0009g0012 a0001c0001t0016g0054	36	394	0.0914	-2	c.54 others(13): Show c.5456_*5457delTT	AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding		3359		chr6	TogoVar
AMDHD1_chr12_95938331_95973720	95940889	AAC AAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02257.hp1 others(16): Show HG01081.hp2 HG02055.hp1 HG02257.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0002c0003t0001 a0002c0003t0009 a0002c0003t0015	a0001c0001t0001g0026 a0001c0001t0001g0118 a0001c0001t0007g0116 others(13): Show a0001c0001t0001g0026 a0001c0001t0001g0118 a0001c0001t0007g0116 a0001c0001t0007g0138 a0001c0001t0014g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0009g0091 a0002c0003t0009g0092 a0002c0003t0015g0089	19	404	0.0470	-2	c.-25 others(13): Show c.-2509_-2508delAC	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		2441		chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95940891	CAA CAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01069.hp1 others(23): Show HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02015.hp2 HG02074.hp1 HG02109.hp1 HG02647.hp2 HG03017.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA19082.hp2 NA19087.hp1 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006 a0005c0013	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0002c0003t0001 a0004c0006t0002 a0005c0013t0006	a0001c0001t0001g0119 a0001c0002t0003g0019 a0001c0002t0003g0043 others(21): Show a0001c0001t0001g0119 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0006g0045 a0001c0002t0008g0295 a0002c0003t0001g0120 a0004c0006t0002g0245 a0004c0006t0002g0248 a0005c0013t0006g0046	26	404	0.0644	-2	c.-25 others(13): Show c.-2507_-2506delAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		2439		chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95945783	GTT GTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(102): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19076.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0009	a0001c0002 a0001c0004 a0001c0011 others(4): Show a0001c0002 a0001c0004 a0001c0011 a0004c0006 a0005c0013 a0007c0014 a0009c0012	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0004t0002 a0001c0011t0002 a0004c0006t0002 a0005c0013t0006 a0007c0014t0003 a0009c0012t0002	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 others(71): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0047 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0282 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0006g0045 a0001c0002t0008g0295 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0283 a0001c0011t0002g0284 a0004c0006t0002g0245 a0004c0006t0002g0248 a0005c0013t0006g0046 a0007c0014t0003g0048 a0009c0012t0002g0259	105	404	0.2599	-2	c.137 others(19): Show c.137+2258_137+2259delTT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95946055	TTC TTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01069.hp1 others(25): Show HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG02015.hp2 HG02080.hp1 HG03017.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18940.hp1 NA18942.hp1 NA18973.hp1 NA18975.hp2 NA18994.hp2 NA19003.hp1 NA19063.hp2 NA19082.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0012 a0001c0001 a0001c0002 a0009c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0009c0012t0002	a0001c0001t0001g0124 a0001c0002t0002g0285 a0001c0002t0002g0286 others(21): Show a0001c0001t0001g0124 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0008g0295 a0009c0012t0002g0259	28	404	0.0693	-2	c.137 others(19): Show c.137+2526_137+2527delCT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95959790	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01496.hp2 others(13): Show HG01109.hp1 HG01167.hp2 HG01496.hp2 HG01884.hp2 HG02015.hp1 HG02109.hp1 HG02622.hp2 HG02809.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp2 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0004c0006 others(1): Show a0001c0001 a0001c0002 a0004c0006 a0007c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0002t0003 a0004c0006t0002 a0007c0014t0003	a0001c0001t0001g0026 a0001c0001t0001g0118 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0026 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0007g0116 a0001c0001t0007g0138 a0001c0001t0014g0026 a0001c0002t0003g0018 a0001c0002t0003g0261 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273 a0004c0006t0002g0245 a0004c0006t0002g0248 a0007c0014t0003g0048	16	404	0.0396	-2	c.588 others(17): Show c.588-586_588-585delTT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95964032	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18939.hp1 NA18946.hp2 others(5): Show HG02040.hp2 NA18939.hp1 NA18946.hp2 NA18985.hp2 NA19009.hp2 NA19012.hp2 NA19063.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0158 others(5): Show a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0217 a0001c0001t0001g0222	8	404	0.0198	-2	c.938 others(19): Show c.938+1570_938+1571delAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95965298	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01069.hp1 others(32): Show HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp1 HG03017.hp1 HG03491.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18977.hp1 NA18981.hp2 NA19002.hp2 NA19082.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0002c0003 a0005c0013 others(1): Show a0001c0002 a0002c0003 a0005c0013 a0007c0014	a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 others(3): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0002c0003t0008 a0005c0013t0006 a0007c0014t0003	a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0043 others(26): Show a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0282 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0006g0045 a0001c0002t0008g0295 a0002c0003t0008g0104 a0005c0013t0006g0046 a0007c0014t0003g0048	35	404	0.0866	-2	c.939 others(17): Show c.939-367_939-366delAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95971750	CAA CAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01496.hp2 others(12): Show HG01109.hp1 HG01167.hp2 HG01496.hp2 HG01975.hp1 HG02015.hp1 HG02622.hp2 HG02809.hp1 HG03225.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp2 NA18977.hp1 NA18981.hp2 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0014 a0001c0001 a0001c0002 a0007c0014	a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 a0007c0014t0003	a0001c0001t0001g0026 a0001c0001t0001g0118 a0001c0001t0001g0119 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0014g0026 a0001c0002t0003g0018 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0007c0014t0003g0048	15	404	0.0371	-2	c.39 others(13): Show c.3908_*3909delAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		3031		chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2517713	TTG TTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(118): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03669.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0003t0001 a0002c0004t0005 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0003g0028 a0001c0001t0004g0008 a0001c0001t0004g0027 a0001c0001t0004g0081 a0001c0001t0005g0002 a0001c0001t0007g0007 a0001c0001t0008g0008 a0001c0001t0016g0001 a0001c0001t0017g0001 a0001c0001t0018g0001 a0001c0003t0001g0013 a0002c0004t0005g0002 a0003c0005t0001g0001	121	318	0.3805	-2	c.-27 others(13): Show c.-2745_-2744delTG	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2657		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2521781	GTT GTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02895.hp2 others(6): Show HG02145.hp2 HG02451.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002	a0001c0001t0003g0009 a0001c0001t0009g0086 a0001c0002t0002g0030 a0001c0001t0003g0009 a0001c0001t0009g0086 a0001c0002t0002g0030	9	318	0.0283	-2	c.360 others(17): Show c.360+677_360+678delTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2529764	CAT CAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02258.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0005 a0001c0001t0005 a0002c0004t0005	a0001c0001t0005g0002 a0002c0004t0005g0002 a0001c0001t0005g0002 a0002c0004t0005g0002	5	318	0.0157	-2	c.20 others(11): Show c.202_*203delAT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	11/11	202		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2532353	TCA TCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG02970.hp1 others(4): Show HG02717.hp1 HG02922.hp2 HG02970.hp1 HG03579.hp1 HG03579.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0006g0029 others(2): Show a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0006g0029 a0001c0001t0006g0084 a0001c0001t0009g0086	7	318	0.0220	-2	c.27 others(13): Show c.2791_*2792delCA	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		937		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	ATT ATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00741.hp2 others(12): Show HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp1 NA18984.hp2 NA19011.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0007g0007	15	318	0.0472	-2	c.38 others(13): Show c.3868_*3869delTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMELX_chrX_11288413_11305761	11290490	CAA CAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	300	0.0033	-2	c.-29 others(13): Show c.-2990_-2989delAA	AMELX	ENSG00000125363.14	transcript	ENST00000380714.7	protein_coding		2922		chrX	TogoVar
AMELX_chrX_11288413_11305761	11297788	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	300	0.0033	-2	c.103 others(17): Show c.103-444_103-443delTT	AMELX	ENSG00000125363.14	transcript	ENST00000380714.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMELX_chrX_11288413_11305761	11304777	CTT CTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	300	0.0033	-2	c.41 others(13): Show c.4166_*4167delTT	AMELX	ENSG00000125363.14	transcript	ENST00000380714.7	protein_coding		4017		chrX	TogoVar

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