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
ALKBH4_chr7_102451238_102469863	102466760	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(90): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0164 others(30): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0010g0128 a0001c0001t0010g0166 a0001c0001t0015g0131 a0001c0001t0016g0130	93	106	0.8774	-13	c.-19 others(24): Show c.-1937_-1925delAAAAAAAAAAAAA	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		1898		chr7	TogoVar
ALKBH5_chr17_18178828_18214954	18192854	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(108): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp2 HG02738.hp2 HG03041.hp2 HG03195.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0018 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0019 a0001c0003t0016	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(62): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0280 a0001c0001t0018g0003 a0001c0001t0019g0001 a0001c0003t0016g0185	111	322	0.3447	-13	c.771 others(30): Show c.771-2090_771-2078delTTTTTTTTTTTTT	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALKBH7_chr19_6367794_6380250	6372792	GCCCTCTC others(6): Show GCCCTCTCTCATGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	-13	c.-28 others(20): Show c.-28_-16delCCCTCTCTCATGA	ALKBH7	ENSG00000125652.8	transcript	ENST00000245812.8	protein_coding	1/4	16		chr19	TogoVar
ALK_chr2_29187774_29926586	29240117	AGGGAGAG others(6): Show AGGGAGAGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0018 a0001c0009t0005g0018	1	80	0.0125	-13	c.220 others(30): Show c.2205-300_2205-288delCTCCTTCTCTCCC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	12/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29332285	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03540.hp2 HG02004.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0001 a0001c0009 a0002c0001	a0001c0009t0005 a0002c0001t0001 a0001c0009t0005 a0002c0001t0001	a0001c0009t0005g0018 a0002c0001t0001g0033 a0001c0009t0005g0018 a0002c0001t0001g0033	2	19	0.1053	-13	c.128 others(32): Show c.1283-3817_1283-3805delTTTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	5/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29571602	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02280.hp1 HG03453.hp1 others(2): Show HG02071.hp2 HG02280.hp1 HG03453.hp1 HG03540.hp1 NA19043.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0003 a0004c0002 others(2): Show a0001c0004 a0003c0003 a0004c0002 a0004c0032 a0004c0042	a0001c0004t0001 a0003c0003t0002 a0004c0002t0003 others(2): Show a0001c0004t0001 a0003c0003t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003	a0001c0004t0001g0037 a0003c0003t0002g0038 a0004c0002t0003g0058 others(2): Show a0001c0004t0001g0037 a0003c0003t0002g0038 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073	5	22	0.2273	-13	c.953 others(32): Show c.953-39499_953-39487delAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29758005	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03540.hp2 HG02486.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0051 a0001c0009 a0001c0051	a0001c0009t0005 a0001c0051t0001 a0001c0009t0005 a0001c0051t0001	a0001c0009t0005g0018 a0001c0051t0001g0019 a0001c0009t0005g0018 a0001c0051t0001g0019	2	40	0.0500	-13	c.668 others(32): Show c.668-40321_668-40309delAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29830712	TTAAAAAA others(6): Show TTAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp2 HG02970.hp2 HG02486.hp1 HG02738.hp2 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0038 a0003c0054 a0001c0006 a0001c0038 a0003c0054	a0001c0006t0001 a0001c0038t0001 a0003c0054t0002 a0001c0006t0001 a0001c0038t0001 a0003c0054t0002	a0001c0006t0001g0036 a0001c0038t0001g0035 a0003c0054t0002g0069 a0001c0006t0001g0036 a0001c0038t0001g0035 a0003c0054t0002g0069	3	25	0.1200	-13	c.667 others(32): Show c.667+89268_667+89280delTTTTTTTTTTTTA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3691345	TTTGGCTC others(6): Show TTTGGCTCAGATGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	272	0.0037	-13	c.512 others(30): Show c.512-4369_512-4357delGGCTCAGATGATT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73402021	GTGTGTGT others(6): Show GTGTGTGTGTGTTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show HG00735.hp1 HG02451.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2	a0004 a0018 a0004 a0018	a0004c0008 a0004c0032 a0018c0033 a0004c0008 a0004c0032 a0018c0033	a0004c0008t0001 a0004c0032t0001 a0018c0033t0001 a0004c0008t0001 a0004c0032t0001 a0018c0033t0001	a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(5): Show a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 a0004c0008t0001g0234 a0004c0008t0001g0235 a0004c0008t0001g0237 a0004c0032t0001g0236 a0018c0033t0001g0238	8	246	0.0325	-13	c.325 others(30): Show c.325-6589_325-6577delTATGTGTGTGTGT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73547009	GACTTTAT others(6): Show GACTTTATGATGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp1 HG01243.hp1 NA18522.hp1	a0001 a0016 a0001 a0016	a0001c0004 a0016c0046 a0001c0004 a0016c0046	a0001c0004t0001 a0016c0046t0001 a0001c0004t0001 a0016c0046t0001	a0001c0004t0001g0247 a0016c0046t0001g0230 a0001c0004t0001g0247 a0016c0046t0001g0230	2	246	0.0081	-13	c.990 others(32): Show c.9908-3256_9908-3244delCTTTATGATGGTA	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73551425	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02698.hp2 HG03017.hp1 others(24): Show HG02071.hp2 HG02698.hp2 HG03017.hp1 HG03927.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19074.hp2 NA19081.hp2 NA19089.hp1 NA20905.hp2	a0003 a0014 a0023 a0003 a0014 a0023	a0003c0002 a0003c0036 a0014c0028 others(1): Show a0003c0002 a0003c0036 a0014c0028 a0023c0035	a0003c0002t0001 a0003c0036t0001 a0014c0028t0001 others(1): Show a0003c0002t0001 a0003c0036t0001 a0014c0028t0001 a0023c0035t0001	a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 others(24): Show a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0015 a0003c0002t0001g0017 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0092 a0003c0036t0001g0027 a0014c0028t0001g0009 a0014c0028t0001g0010 a0023c0035t0001g0016	27	165	0.1636	-13	c.100 others(34): Show c.10078+1004_10078+1016delTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73568995	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG02886.hp2 others(3): Show HG01081.hp1 HG01081.hp2 HG02886.hp2 HG03139.hp1 NA19240.hp2 NA20129.hp1	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0012	a0002c0001 a0002c0066 a0004c0007 others(2): Show a0002c0001 a0002c0066 a0004c0007 a0008c0062 a0012c0029	a0002c0001t0001 a0002c0066t0001 a0004c0007t0001 others(2): Show a0002c0001t0001 a0002c0066t0001 a0004c0007t0001 a0008c0062t0001 a0012c0029t0001	a0002c0001t0001g0186 a0002c0066t0001g0132 a0004c0007t0001g0098 others(3): Show a0002c0001t0001g0186 a0002c0066t0001g0132 a0004c0007t0001g0098 a0008c0062t0001g0121 a0012c0029t0001g0119 a0012c0029t0001g0120	6	34	0.1765	-13	c.103 others(34): Show c.10385-3242_10385-3230delTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8040639	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18944.hp1 NA18944.hp2 others(2): Show HG02615.hp1 NA18944.hp1 NA18944.hp2 NA18975.hp1 NA18987.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0018 a0009c0032 a0002c0002 a0009c0018 a0009c0032	a0002c0002t0002 a0009c0018t0002 a0009c0032t0001 a0002c0002t0002 a0009c0018t0002 a0009c0032t0001	a0002c0002t0002g0197 a0002c0002t0002g0198 a0009c0018t0002g0032 others(1): Show a0002c0002t0002g0197 a0002c0002t0002g0198 a0009c0018t0002g0032 a0009c0032t0001g0032	5	468	0.0107	-13	c.449 others(28): Show c.449+666_449+678delAAGAAAAGAAAGA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX5AP_chr13_30730543_30769426	30741103	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp1 HG01975.hp2 others(1): Show HG01255.hp1 HG01516.hp1 HG01975.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0204	4	7	0.5714	-13	c.71- others(28): Show c.71-2934_71-2922delTTTTTTTTTTTTT	ALOX5AP	ENSG00000132965.10	transcript	ENST00000380490.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
ALOXE3_chr17_8090900_8123514	8107959	AAGGAAGG others(6): Show AAGGAAGGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	403	0.0025	-13	c.168 others(30): Show c.1684+496_1684+508delCTCTCTCCTTCCT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK1_chr4_112292369_112447621	112299131	TTTGTTTC others(6): Show TTTGTTTCTTGTTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20129.hp1 HG02922.hp1 NA20129.hp1	a0007 a0012 a0007 a0012	a0007c0017 a0012c0026 a0007c0017 a0012c0026	a0007c0017t0001 a0012c0026t0003 a0007c0017t0001 a0012c0026t0003	a0007c0017t0001g0009 a0012c0026t0003g0008 a0007c0017t0001g0009 a0012c0026t0003g0008	2	304	0.0066	-13	c.-15 others(32): Show c.-153+1666_-153+1678delTTTCTTGTTATTG	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK2_chr18_58476247_58634091	58520428	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0154 a0003c0004t0001g0154	1	30	0.0333	-13	c.566 others(32): Show c.5666-3259_5666-3247delTTTTTTTTTTTTT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58546118	TAGGATAA others(6): Show TAGGATAACACGTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02572.hp2 HG02723.hp2 others(3): Show HG00642.hp1 HG02572.hp2 HG02723.hp2 HG02970.hp1 HG03130.hp2 HG03209.hp1	a0014 a0019 a0035 others(1): Show a0014 a0019 a0035 a0038	a0014c0022 a0019c0073 a0035c0065 others(1): Show a0014c0022 a0019c0073 a0035c0065 a0038c0095	a0014c0022t0004 a0019c0073t0001 a0035c0065t0011 others(1): Show a0014c0022t0004 a0019c0073t0001 a0035c0065t0011 a0038c0095t0001	a0014c0022t0004g0138 a0014c0022t0004g0145 a0014c0022t0004g0150 others(3): Show a0014c0022t0004g0138 a0014c0022t0004g0145 a0014c0022t0004g0150 a0019c0073t0001g0168 a0035c0065t0011g0095 a0038c0095t0001g0142	6	318	0.0189	-13	c.196 others(32): Show c.1963-7907_1963-7895delTACGTGTTATCCT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58565166	TGAACATT others(6): Show TGAACATTTCCTTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG02040.hp2 others(13): Show HG01109.hp1 HG01192.hp2 HG02040.hp2 HG02300.hp2 HG02922.hp2 HG03195.hp2 HG03516.hp2 NA18949.hp2 NA18964.hp1 NA18972.hp2 NA18978.hp2 NA18999.hp2 NA19003.hp1 NA19066.hp1 NA19080.hp2 NA19090.hp1	a0003 a0004 a0011 others(4): Show a0003 a0004 a0011 a0012 a0020 a0031 a0047	a0003c0067 a0003c0068 a0004c0003 others(8): Show a0003c0067 a0003c0068 a0004c0003 a0004c0012 a0004c0071 a0011c0008 a0012c0069 a0020c0032 a0020c0048 a0031c0064 a0047c0070	a0003c0067t0009 a0003c0068t0002 a0004c0003t0016 others(10): Show a0003c0067t0009 a0003c0068t0002 a0004c0003t0016 a0004c0012t0001 a0004c0012t0002 a0004c0012t0007 a0004c0071t0001 a0011c0008t0008 a0012c0069t0007 a0020c0032t0004 a0020c0048t0011 a0031c0064t0001 a0047c0070t0002	a0003c0067t0009g0042 a0003c0068t0002g0076 a0004c0003t0016g0261 others(13): Show a0003c0067t0009g0042 a0003c0068t0002g0076 a0004c0003t0016g0261 a0004c0003t0016g0286 a0004c0012t0001g0195 a0004c0012t0001g0292 a0004c0012t0002g0001 a0004c0012t0007g0038 a0004c0012t0007g0040 a0004c0071t0001g0291 a0011c0008t0008g0250 a0012c0069t0007g0036 a0020c0032t0004g0167 a0020c0048t0011g0091 a0031c0064t0001g0251 a0047c0070t0002g0039	16	318	0.0503	-13	c.196 others(34): Show c.1962+13635_1962+13647delTAAGGAAATGTTC	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALS2_chr2_201695267_201785933	201749057	TGTTCAAG others(6): Show TGTTCAAGGAACCA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0242 a0001c0001t0001g0243	2	352	0.0057	-13	c.181 others(30): Show c.1815+642_1815+654delTGGTTCCTTGAAC	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	8/33			chr2	TogoVar
ALS2_chr2_201695267_201785933	201766854	ACACCGCA others(6): Show ACACCGCATGTTCT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	352	0.0028	-13	c.175 others(28): Show c.175+362_175+374delAGAACATGCGGTG	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	3/33			chr2	TogoVar
ALX3_chr1_110054870_110075672	110062632	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp2 NA18946.hp1 others(1): Show HG03041.hp2 HG03453.hp2 NA18946.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0002g0033 a0001c0001t0003g0014 a0001c0004t0002g0035 a0001c0001t0002g0033 a0001c0001t0003g0014 a0001c0004t0002g0035	4	420	0.0095	-13	c.595 others(30): Show c.595-1082_595-1070delCACACACACACAC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
ALX4_chr11_44255440_44315139	44293148	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG00099.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0004 a0001c0001t0001 a0001c0007t0004	a0001c0001t0001g0235 a0001c0007t0004g0236 a0001c0001t0001g0235 a0001c0007t0004g0236	2	382	0.0052	-13	c.466 others(32): Show c.466+16436_466+16448delTCCTTCCTTCCTT	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
AMACR_chr5_33981165_34013050	34009160	TTATACTA others(6): Show TTATACTACCAAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00621.hp2 others(52): Show HG00323.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01192.hp1 HG01884.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18944.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18977.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19056.hp1 NA19060.hp2 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19090.hp1 NA19240.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0011	a0001c0001 a0004c0004 a0008c0008 others(1): Show a0001c0001 a0004c0004 a0008c0008 a0011c0013	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(16): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0008 a0004c0004t0010 a0004c0004t0033 a0008c0008t0007 a0008c0008t0010 a0008c0008t0011 a0008c0008t0013 a0008c0008t0032 a0008c0008t0040 a0011c0013t0003 a0011c0013t0026	a0001c0001t0002g0030 a0001c0001t0011g0110 a0001c0001t0012g0116 others(27): Show a0001c0001t0002g0030 a0001c0001t0011g0110 a0001c0001t0012g0116 a0004c0004t0001g0004 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0115 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0139 a0004c0004t0003g0028 a0004c0004t0003g0125 a0004c0004t0004g0122 a0004c0004t0005g0119 a0004c0004t0006g0120 a0004c0004t0006g0124 a0004c0004t0008g0121 a0004c0004t0010g0117 a0004c0004t0010g0207 a0004c0004t0033g0118 a0008c0008t0007g0041 a0008c0008t0007g0042 a0008c0008t0010g0111 a0008c0008t0011g0114 a0008c0008t0013g0108 a0008c0008t0032g0113 a0008c0008t0040g0112 a0011c0013t0003g0029 a0011c0013t0026g0123	55	436	0.1261	-13	c.-11 others(24): Show c.-1154_-1142delCCTTGGTAGTATA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		1111		chr5	TogoVar
AMBRA1_chr11_46391414_46599023	46583650	TCCAAAAA others(6): Show TCCAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	103	0.0097	-13	c.-12 others(34): Show c.-121+10165_-121+10177delTTTTTTTTTTTGG	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02572.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0149 a0001c0002t0002g0122 a0001c0002t0002g0149	2	5	0.4000	-13	c.-18 others(24): Show c.-1841_-1829delTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding		1513		chr11	TogoVar
AMD1_chr6_110869785_110900713	110871876	GAGGTAGG others(6): Show GAGGTAGGTCACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	392	0.0026	-13	c.-32 others(24): Show c.-3229_-3217delAGGTAGGTCACCT	AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding		2908		chr6	TogoVar
AMFR_chr16_56356452_56430545	56361753	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0231 a0001c0001t0044g0231	1	62	0.0161	-13	c.11 others(24): Show c.1143_*1155delTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	14/14	1143		chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109511250	AAAAAAAA others(6): Show AAAAAAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	386	0.0026	-13	c.-19 others(24): Show c.-1931_-1919delCTTTCTTTTTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		1524		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109511254	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03209.hp1 HG03209.hp2 others(1): Show HG02922.hp1 HG03209.hp1 HG03209.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0031 a0001c0001t0006 a0001c0001t0007 a0001c0001t0031	a0001c0001t0006g0006 a0001c0001t0007g0007 a0001c0001t0031g0034 a0001c0001t0006g0006 a0001c0001t0007g0007 a0001c0001t0031g0034	4	376	0.0106	-13	c.-19 others(24): Show c.-1935_-1923delCTTTCTTTCTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		1528		chr1	TogoVar
AMIGO2_chr12_47071447_47084959	47073662	AGTAATTA others(6): Show AGTAATTATTCCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	478	0.0021	-13	c.37 others(24): Show c.3759_*3771delATGGAATAATTAC	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding		2784		chr12	TogoVar
AMOTL1_chr11_94763356_94881748	94787687	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01123.hp2 others(64): Show HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18952.hp2 NA18953.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18992.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0018 a0001c0020 a0002c0003 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0045 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0014 a0001c0002t0024 a0001c0002t0046 a0001c0005t0001 a0001c0006t0001 a0001c0018t0001 a0001c0020t0002 a0002c0003t0001 a0009c0014t0001	a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0116 others(59): Show a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0206 a0001c0001t0002g0031 a0001c0001t0003g0203 a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0005g0128 a0001c0001t0009g0009 a0001c0001t0009g0156 a0001c0001t0009g0157 a0001c0001t0017g0205 a0001c0001t0028g0196 a0001c0001t0029g0172 a0001c0001t0034g0127 a0001c0001t0045g0140 a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0153 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0193 a0001c0002t0006g0002 a0001c0002t0006g0011 a0001c0002t0006g0186 a0001c0002t0008g0010 a0001c0002t0008g0012 a0001c0002t0008g0160 a0001c0002t0008g0185 a0001c0002t0012g0105 a0001c0002t0014g0165 a0001c0002t0014g0166 a0001c0002t0024g0037 a0001c0002t0046g0191 a0001c0005t0001g0013 a0001c0006t0001g0194 a0001c0018t0001g0180 a0001c0020t0002g0175 a0002c0003t0001g0036 a0009c0014t0001g0201	67	69	0.9710	-13	c.50- others(28): Show c.50-7296_50-7284delAAAAAAAAAAAAA	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94808965	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00642.hp1 others(81): Show HG00280.hp1 HG00558.hp1 HG00642.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18992.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0018 others(3): Show a0001c0001 a0001c0002 a0001c0018 a0001c0020 a0002c0019 a0007c0008	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(20): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0014 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0002t0031 a0001c0002t0036 a0001c0002t0046 a0001c0002t0047 a0001c0018t0001 a0001c0020t0002 a0002c0019t0004 a0007c0008t0015	a0001c0001t0003g0022 a0001c0001t0009g0009 a0001c0001t0009g0155 others(78): Show a0001c0001t0003g0022 a0001c0001t0009g0009 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0009g0157 a0001c0001t0015g0213 a0001c0001t0044g0210 a0001c0002t0001g0006 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0101 a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0062 a0001c0002t0002g0153 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0193 a0001c0002t0003g0167 a0001c0002t0003g0192 a0001c0002t0006g0002 a0001c0002t0006g0011 a0001c0002t0006g0056 a0001c0002t0006g0061 a0001c0002t0006g0063 a0001c0002t0006g0090 a0001c0002t0006g0186 a0001c0002t0008g0010 a0001c0002t0008g0012 a0001c0002t0008g0098 a0001c0002t0008g0160 a0001c0002t0008g0162 a0001c0002t0008g0185 a0001c0002t0012g0096 a0001c0002t0012g0097 a0001c0002t0012g0105 a0001c0002t0014g0058 a0001c0002t0014g0137 a0001c0002t0014g0165 a0001c0002t0014g0166 a0001c0002t0018g0060 a0001c0002t0018g0088 a0001c0002t0018g0139 a0001c0002t0019g0102 a0001c0002t0019g0104 a0001c0002t0023g0099 a0001c0002t0023g0100 a0001c0002t0024g0037 a0001c0002t0024g0111 a0001c0002t0031g0227 a0001c0002t0036g0089 a0001c0002t0046g0191 a0001c0002t0047g0095 a0001c0018t0001g0180 a0001c0020t0002g0175 a0002c0019t0004g0103 a0007c0008t0015g0225	84	197	0.4264	-13	c.112 others(32): Show c.1121+8665_1121+8677delTTTTTTTTTTTTT	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPH_chr7_38378704_38636373	38441857	TATCATAT others(6): Show TATCATATATATCA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0004 a0006c0018t0004	a0006c0018t0004g0139 a0006c0018t0004g0139	1	286	0.0035	-13	c.101 others(32): Show c.1018-5482_1018-5470delTGATATATATGAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38621504	TTAACATC others(6): Show TTAACATCCTTTAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0046 a0003c0010t0002g0046	1	286	0.0035	-13	c.69+ others(28): Show c.69+9766_69+9778delGTAAAGGATGTTA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMZ1_chr7_2683202_2724683	2690168	CCAGTCTG others(6): Show CCAGTCTGCACTAG	C C	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0029 a0002c0003t0029	a0002c0003t0029g0378 a0002c0003t0029g0378	1	436	0.0023	-13	c.-21 others(32): Show c.-219+1873_-219+1885delCAGTCTGCACTAG	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	1/6			chr7	TogoVar
AMZ1_chr7_2683202_2724683	2693662	TCTCCAGC others(6): Show TCTCCAGCCTCAGC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0048 a0002c0010t0003g0048	1	436	0.0023	-13	c.-21 others(32): Show c.-219+5373_-219+5385delCCTCAGCCTCCAG	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145026983	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	332	0.0030	-13	c.328 others(32): Show c.328-31393_328-31381delAAAAAAAAATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145039010	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	122	0.0082	-13	c.327 others(32): Show c.327+25549_327+25561delTTTTTTTTTTTTT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC13_chr3_134472706_134490985	134478094	ATCTTAGG others(6): Show ATCTTAGGAATGCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0029 a0001c0001t0008g0029	1	392	0.0026	-13	c.48 others(22): Show c.483_*495delGGCATTCCTAAGA	ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding	3/3	483		chr3	TogoVar
ANAPC16_chr10_72211012_72240860	72218160	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19074.hp2 NA18989.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0007 a0001c0001t0002g0021	2	331	0.0060	-13	c.-28 others(30): Show c.-28+2024_-28+2036delAAAAATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218162	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18998.hp2 HG02615.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0240 a0001c0001t0002g0007 a0001c0001t0001g0240 a0001c0001t0002g0007	2	332	0.0060	-13	c.-28 others(30): Show c.-28+2026_-28+2038delAAATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218166	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	311	0.0032	-13	c.-28 others(30): Show c.-28+2029_-28+2041delTATATATATATAT	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3			chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111835946	GGTCAAGA others(6): Show GGTCAAGAACTCAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02572.hp2 others(6): Show HG02145.hp1 HG02451.hp1 HG02572.hp2 HG02809.hp1 HG02895.hp2 HG03041.hp2 HG03195.hp1 NA19043.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0032 a0001c0007 a0004c0032	a0001c0007t0007 a0004c0032t0007 a0001c0007t0007 a0004c0032t0007	a0001c0007t0007g0254 a0001c0007t0007g0255 a0001c0007t0007g0256 others(6): Show a0001c0007t0007g0254 a0001c0007t0007g0255 a0001c0007t0007g0256 a0001c0007t0007g0257 a0001c0007t0007g0258 a0001c0007t0007g0259 a0001c0007t0007g0260 a0001c0007t0007g0261 a0004c0032t0007g0253	9	368	0.0245	-13	c.211 others(32): Show c.2116-1087_2116-1075delATGAGTTCTTGAC	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	18/47			chr2	TogoVar
ANAPC7_chr12_110367900_110408708	110368308	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02074.hp2 HG01175.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0289 a0001c0002t0001g0277 a0001c0001t0010g0289 a0001c0002t0001g0277	2	117	0.0171	-13	c.58 others(24): Show c.5823_*5835delTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding		4591		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382441	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	196	0.0051	-13	c.935 others(28): Show c.935+389_935+401delTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382454	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0293 a0001c0001t0011g0293	1	293	0.0034	-13	c.935 others(28): Show c.935+376_935+388delATATATTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996637	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	390	0.0026	-13	c.148 others(30): Show c.1483+505_1483+517delATATATATATTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPTL4_chr19_8359155_8379370	8363464	CTTTCTCT others(6): Show CTTTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01081.hp1 others(10): Show HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG03491.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0014 a0001c0001 a0001c0013 a0001c0014	a0001c0001t0002 a0001c0013t0012 a0001c0014t0002 a0001c0001t0002 a0001c0013t0012 a0001c0014t0002	a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0063 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0013t0012g0006 a0001c0014t0002g0071	13	406	0.0320	-13	c.-85 others(22): Show c.-857_-845delTTTCTCTCTCTCT	ANGPTL4	ENSG00000167772.12	transcript	ENST00000301455.7	protein_coding		690		chr19	TogoVar

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