Joint Open Genome and Omics Platform (JoGo)

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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
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0238 a0001c0001t0040g0238	1	212	0.0047	17	c.226 others(36): Show c.2269-1411_2269-1410insATATATTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(10): Show CAGGGGCGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18949.hp2 NA18997.hp2 NA18945.hp1 NA18949.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0114 a0001c0001t0125 a0001c0001t0005 a0001c0001t0114 a0001c0001t0125	a0001c0001t0005g0229 a0001c0001t0114g0215 a0001c0001t0125g0230 a0001c0001t0005g0229 a0001c0001t0114g0215 a0001c0001t0125g0230	3	248	0.0121	17	c.546 others(34): Show c.546+6017_546+6018insAGGGGCGGGGGGGGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	9	0.1111	17	c.25 others(28): Show c.2518_*2519insTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp2 NA18994.hp1 NA18972.hp1 NA18972.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0031 a0001c0001t0001g0033	3	184	0.0163	17	c.427 others(34): Show c.427-6240_427-6239insATATATATATATATATA	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG02630.hp2 others(5): Show HG00544.hp1 HG00673.hp1 HG02630.hp2 HG03516.hp2 NA18954.hp2 NA18995.hp1 NA19030.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0110 a0001c0001t0001g0138	8	261	0.0307	17	c.427 others(34): Show c.427-6280_427-6279insTATATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG01099.hp1 others(11): Show HG00558.hp1 HG00741.hp2 HG01099.hp1 HG01358.hp1 HG02572.hp2 HG02683.hp2 HG03471.hp1 HG03492.hp1 HG03942.hp1 HG04204.hp1 NA18968.hp1 NA19004.hp2 NA19005.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0003 a0001c0003t0002 a0001c0005t0003 a0001c0002t0003 a0001c0003t0002 a0001c0005t0003	a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0151 others(11): Show a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0003t0002g0135 a0001c0003t0002g0162 a0001c0005t0003g0181 a0001c0005t0003g0192	14	15	0.9333	17	c.67+ others(32): Show c.67+9521_67+9537dupTTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	946770	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19082.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0006t0001 a0001c0006t0018 a0001c0012t0001 a0004c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(94): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0262 a0001c0001t0002g0054 a0001c0001t0003g0041 a0001c0001t0005g0020 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0088 a0001c0001t0005g0104 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0007g0040 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0106 a0001c0001t0013g0064 a0001c0001t0015g0062 a0001c0001t0017g0069 a0001c0001t0019g0021 a0001c0002t0001g0071 a0001c0006t0001g0044 a0001c0006t0018g0100 a0001c0012t0001g0097 a0004c0014t0001g0261	97	225	0.4311	17	c.68- others(34): Show c.68-12658_68-12657insAAAAAAAAAAAAAAAAA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	991686	G G	GGCTCCAG others(10): Show GGCTCCAGGCAGGGACTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0168 a0001c0002t0011g0168	1	266	0.0038	17	c.127 others(34): Show c.1270-815_1270-799dupCTCCAGGCAGGGACTTG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	194	0.0052	17	c.278 others(36): Show c.2782-3051_2782-3050insATATATATATATATATT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720574	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	346	0.0029	17	c.278 others(36): Show c.2782-3051_2782-3050insATATATATATATATATA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21			chr17	TogoVar
AP3B1_chr5_77997326_78299698	78174539	C C	CAGCACAG others(10): Show CAGCACAGCAAATACTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	224	0.0045	17	c.116 others(36): Show c.1167+1070_1167+1086dupACAGTATTTGCTGTGCT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78184686	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show HG02280.hp1 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0013 a0001c0005 a0007c0013	a0001c0005t0001 a0001c0005t0002 a0007c0013t0002 a0001c0005t0001 a0001c0005t0002 a0007c0013t0002	a0001c0005t0001g0195 a0001c0005t0002g0190 a0001c0005t0002g0191 others(2): Show a0001c0005t0001g0195 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0194 a0007c0013t0002g0193	5	172	0.0291	17	c.787 others(34): Show c.787-3025_787-3024insTTTTTTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18949.hp2 NA18982.hp1 HG00735.hp1 NA18949.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0002g0171 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0002g0171	3	113	0.0265	17	c.787 others(36): Show c.787-12109_787-12108insAAAAAAATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02015.hp2 NA18978.hp2 others(2): Show HG01943.hp2 HG02015.hp2 NA18978.hp2 NA18990.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0002g0151 others(2): Show a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0002g0151 a0001c0002t0002g0156 a0001c0002t0002g0170	5	115	0.0435	17	c.787 others(36): Show c.787-12109_787-12108insAAAAAAAAATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	111	0.0090	17	c.787 others(36): Show c.787-12109_787-12108insAAAAAAAAAAATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01069.hp2 others(9): Show HG00558.hp2 HG00597.hp1 HG01069.hp2 HG02622.hp2 HG02818.hp1 HG03139.hp1 HG03209.hp1 NA18906.hp1 NA18973.hp1 NA19083.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0144 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0005t0001g0031 a0001c0005t0001g0297 a0001c0005t0001g0298 a0001c0005t0001g0326	12	15	0.8000	17	c.113 others(34): Show c.113+9180_113+9196dupAAAAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp2 others(2): Show HG02896.hp2 HG02897.hp1 HG03195.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0061 a0001c0001t0005g0013 a0001c0001t0005g0061	5	176	0.0284	17	c.804 others(32): Show c.804-570_804-554dupAAAAAAAAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP4B1_chr1_113889194_113909799	113907204	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01257.hp2 HG01069.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	2	118	0.0169	17	c.-25 others(28): Show c.-2504_-2488dupAAAAAAAAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp2 HG02055.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0304 a0001c0001t0005g0332 a0001c0001t0005g0304 a0001c0001t0005g0332	2	136	0.0147	17	c.185 others(36): Show c.1851+4106_1851+4122dupAAAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02074.hp2 HG02258.hp2 others(2): Show HG00642.hp2 HG02074.hp2 HG02258.hp2 NA18971.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0139 a0001c0001t0005g0241 a0001c0001t0010g0272 others(2): Show a0001c0001t0001g0139 a0001c0001t0005g0241 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274	5	115	0.0435	17	c.306 others(34): Show c.306+2922_306+2938dupTTTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5S1_chr20_3815547_3833838	3816995	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0024 a0001c0001t0029g0024	1	285	0.0035	17	c.-37 others(28): Show c.-3780_-3779insTTTTTTTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3551		chr20	TogoVar
APAF1_chr12_98640290_98740433	98643816	T T	TCTTTTTT others(10): Show TCTTTTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0289 a0001c0001t0037g0289	1	364	0.0027	17	c.-20 others(28): Show c.-2061_-2060insCTTTTTTTTTTTTTTTC	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		1473		chr12	TogoVar
APAF1_chr12_98640290_98740433	98653687	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18985.hp1 HG01168.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0029 a0001c0001t0001g0046	2	310	0.0065	17	c.526 others(34): Show c.526+4003_526+4004insTATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA19058.hp1 HG03492.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0005g0062 a0001c0001t0001g0005 a0001c0001t0005g0062	2	244	0.0082	17	c.526 others(34): Show c.526+4005_526+4006insTATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	119	0.0084	17	c.526 others(34): Show c.526+4008_526+4009insAAATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01358.hp2 HG00621.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0002 a0001c0001t0001g0045	2	120	0.0167	17	c.526 others(34): Show c.526+4008_526+4009insATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02602.hp2 others(2): Show HG01515.hp2 HG01517.hp1 HG02602.hp2 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0254 a0001c0001t0007g0061	5	123	0.0407	17	c.526 others(34): Show c.526+4007_526+4008insTATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98692157	A A	ACTGCAAG others(10): Show ACTGCAAGCTCCGCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02572.hp1 HG02818.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0209 a0003c0005t0007g0210 a0003c0005t0007g0209 a0003c0005t0007g0210	2	364	0.0055	17	c.230 others(36): Show c.2304+5285_2304+5301dupCTGCAAGCTCCGCCTCC	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA2_chr15_28880974_29123315	28987753	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0147 a0001c0001t0040g0147	1	197	0.0051	17	c.-94 others(34): Show c.-94-8000_-94-7999insATATATATATATATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14			chr15	TogoVar
APBA2_chr15_28880974_29123315	29056610	C C	CTCCCTCC others(10): Show CTCCCTCCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01071.hp1 others(3): Show HG00597.hp2 HG00639.hp1 HG01071.hp1 HG02109.hp2 NA19030.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0019 a0002c0002t0041	a0002c0002t0001g0076 a0002c0002t0002g0165 a0002c0002t0004g0013 others(3): Show a0002c0002t0001g0076 a0002c0002t0002g0165 a0002c0002t0004g0013 a0002c0002t0004g0086 a0002c0002t0019g0132 a0002c0002t0041g0119	6	16	0.3750	17	c.951 others(34): Show c.951+1778_951+1779insCTCCCTTCCTTCCTTCC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29056610	C C	CTCCCTTC others(10): Show CTCCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0034 a0002c0017t0034	a0002c0017t0034g0177 a0002c0017t0034g0177	1	11	0.0909	17	c.951 others(34): Show c.951+1778_951+1779insCTTCCTTCCTTCCTTCC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG02074.hp2 others(8): Show HG00438.hp2 HG00673.hp2 HG02074.hp2 HG02080.hp1 HG03942.hp2 NA18955.hp1 NA18973.hp1 NA18994.hp2 NA19000.hp2 NA19064.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0188	11	36	0.3056	17	c.813 others(34): Show c.813+2885_813+2901dupAAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19060.hp2 NA19083.hp2 NA18999.hp2 NA19060.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0157 a0001c0001t0001g0231 a0001c0001t0001g0095 a0001c0001t0001g0157 a0001c0001t0001g0231	3	119	0.0252	17	c.814 others(34): Show c.814-8481_814-8465dupTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524974	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01975.hp2 HG02148.hp2 others(3): Show HG01433.hp2 HG01975.hp2 HG02148.hp2 NA18747.hp2 NA18955.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0144 a0001c0001t0002g0284 a0001c0001t0002g0300	6	275	0.0218	17	c.814 others(34): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14			chr10	TogoVar
APBB1_chr11_6390125_6424094	6391041	T T	TCACTGAG others(10): Show TCACTGAGTTTGCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0238 a0001c0001t0001g0045 a0001c0001t0001g0238	2	414	0.0048	17	c.44 others(28): Show c.4476_*4492dupGGGGAGCAAACTCAGTG	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		4083		chr11	TogoVar
APBB2_chr4_40805027_41219542	40858454	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG03471.hp2 HG01109.hp1 HG01361.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0006 a0001c0003t0026 a0001c0002t0001 a0001c0002t0006 a0001c0003t0026	a0001c0002t0001g0173 a0001c0002t0006g0058 a0001c0003t0026g0019 a0001c0002t0001g0173 a0001c0002t0006g0058 a0001c0003t0026g0019	3	67	0.0448	17	c.153 others(38): Show c.1530-27894_1530-27878dupTTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp1 HG01261.hp2 others(5): Show HG00597.hp1 HG01069.hp1 HG01261.hp2 HG01516.hp2 HG03195.hp1 HG03195.hp2 NA19007.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0002t0018 a0001c0003t0003 others(5): Show a0001c0002t0001 a0001c0002t0018 a0001c0003t0003 a0001c0004t0012 a0001c0004t0020 a0002c0001t0003 a0002c0001t0005 a0002c0001t0027	a0001c0002t0001g0110 a0001c0002t0018g0003 a0001c0003t0003g0136 others(5): Show a0001c0002t0001g0110 a0001c0002t0018g0003 a0001c0003t0003g0136 a0001c0004t0012g0001 a0001c0004t0020g0036 a0002c0001t0003g0049 a0002c0001t0005g0153 a0002c0001t0027g0018	8	152	0.0526	17	c.836 others(34): Show c.836-1182_836-1181insGTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0108 a0001c0002t0004g0108	1	145	0.0069	17	c.836 others(34): Show c.836-1182_836-1181insGTTTGTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40948890	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0027 a0002c0001t0003g0027	1	6	0.1667	17	c.836 others(34): Show c.836-3834_836-3818dupTTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40972445	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01891.hp2 HG02486.hp1 others(2): Show HG00438.hp2 HG01891.hp2 HG02486.hp1 HG03490.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0002c0001t0024 others(1): Show a0001c0002t0003 a0001c0002t0004 a0002c0001t0024 a0002c0001t0033	a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0004g0028 others(2): Show a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0004g0028 a0002c0001t0024g0013 a0002c0001t0033g0014	5	143	0.0350	17	c.836 others(36): Show c.836-27373_836-27372insTATTTATTTATTTATTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982405	G G	GGAAAGGA others(10): Show GGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02630.hp2 HG02922.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0008 a0002c0005t0005 a0002c0005t0008	a0002c0005t0005g0076 a0002c0005t0008g0127 a0002c0005t0005g0076 a0002c0005t0008g0127	2	182	0.0110	17	c.835 others(36): Show c.835+31177_835+31178insTCCTTTCCTTTCCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41216419	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0046 a0002c0008t0046	a0002c0008t0046g0090 a0002c0008t0046g0090	1	13	0.0769	17	c.-24 others(28): Show c.-2448_-2432dupCCCCCCCCCCCCCCCCC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding		1878		chr4	TogoVar
APC2_chr19_1445121_1478244	1454563	C C	CTTTTCTT others(10): Show CTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0242 a0001c0001t0009g0242	1	97	0.0103	17	c.414 others(32): Show c.414-582_414-581insCTTTTTTTTTTTTTTTT	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(10): Show CCGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03209.hp2 HG01192.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0080 a0001c0001t0026g0262 a0001c0001t0001g0080 a0001c0001t0026g0262	2	116	0.0172	17	c.120 others(32): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APCDD1_chr18_10449635_10494949	10492170	G G	GGATTGCT others(10): Show GGATTGCTCTTGCAGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	420	0.0024	17	c.41 others(28): Show c.4132_*4133insGATTGCTCTTGCAGCTC	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding		2222		chr18	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	17	c.-13 others(28): Show c.-1315_-1314insTTTTTTTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APELA_chr4_164872178_164902527	164884121	G G	GAAAGAAG others(10): Show GAAAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	144	0.0069	17	c.1+ others(32): Show c.1+5113_*1+5114insAAGAAGAAAGAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APH1B_chr15_63272605_63314126	63281359	T T	TCAGCGCC others(10): Show TCAGCGCCTGGTTTTTGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 HG01884.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	420	0.0048	17	c.284 others(34): Show c.284+2030_284+2046dupAGCGCCTGGTTTTTGCC	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
APLF_chr2_68462585_68585162	68572087	A A	AGGCTTAG others(10): Show AGGCTTAGTGGGATTTAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02145.hp2 others(8): Show HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03516.hp1 HG06807.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 others(8): Show a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0011t0002g0049	11	174	0.0632	17	c.133 others(36): Show c.1333+4700_1333+4701insGGCTTAGTGGGATTTAC	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	9/9			chr2	TogoVar
APOA1_chr11_116830751_116842622	116842617	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	17	c.-50 others(28): Show c.-5034_-5033insAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4996		chr11	TogoVar

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