Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARIH1_chr15_72469330_72607987	72506367	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0033 a0001c0001t0024g0033	1	260	0.0038	13	c.376 others(32): Show c.376-11690_376-11689insAAGAAAAAAAAAA		ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ARK2N_chr18_46169034_46271992	46244601	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	107	0.0093	13	c.898 others(30): Show c.898+4423_898+4435dupTTTTTTTTTTTTT		ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL13B_chr3_93975155_94060678	94029334	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	256	0.0039	13	c.381 others(30): Show c.381-5996_381-5995insATATATATATATT		ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL14EPL_chr5_116027472_116064489	116040979	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02486.hp1 others(13): Show HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp2 HG04184.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0007t0003	a0001c0001t0001g0027 a0001c0001t0001g0089 a0001c0001t0001g0090 others(11): Show a0001c0001t0001g0027 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0170 a0001c0001t0003g0076 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0004g0015 a0001c0001t0004g0069 a0001c0001t0009g0132 a0001c0007t0003g0071	16	72	0.2222	13	c.-10 others(30): Show c.-10+8476_-10+8488dupAAAAAAAAAAAAA		ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	153	0.0065	13	c.554 others(30): Show c.554+1228_554+1240dupTTTTTTTTTTTTT		ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL14EP_chr11_30318104_30343223	30342410	T T	TGGATGGA others(6): Show TGGATGGATGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	398	0.0025	13	c.56 others(24): Show c.5615_*5616insGGATGGATGGATG		ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding					4188		chr11	TogoVar
ARL15_chr5_53878942_54315573	53910632	A A	AATTATAT others(6): Show AATTATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01261.hp1 others(7): Show HG00323.hp2 HG01167.hp1 HG01261.hp1 HG02027.hp1 HG02257.hp1 HG02622.hp2 HG03540.hp1 HG04204.hp2 NA18989.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0002t0001 a0001c0002t0007	a0001c0001t0001g0099 a0001c0001t0001g0131 a0001c0001t0001g0175 others(7): Show a0001c0001t0001g0099 a0001c0001t0001g0131 a0001c0001t0001g0175 a0001c0001t0002g0142 a0001c0001t0013g0164 a0001c0001t0017g0203 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0007g0028	10	146	0.0685	13	c.463 others(32): Show c.463-23920_463-23919insATATATATATAAT		ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4						chr5	TogoVar
ARL15_chr5_53878942_54315573	54092073	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp2 HG02258.hp1 others(9): Show HG01346.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp1 HG02965.hp1 HG03130.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 others(9): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0187 a0001c0001t0002g0085 a0001c0001t0002g0128 a0001c0001t0002g0165 a0001c0001t0007g0096 a0001c0001t0008g0102 a0001c0001t0008g0127 a0001c0001t0011g0120 a0001c0002t0001g0019	12	189	0.0635	13	c.462 others(32): Show c.462+21128_462+21129insTGTGTGTGTGTGT		ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4						chr5	TogoVar
ARL15_chr5_53878942_54315573	54114406	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG00673.hp2 others(57): Show HG00408.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18962.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18990.hp2 NA18998.hp2 NA19004.hp1 NA19011.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0090 others(57): Show a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0004g0119 a0001c0001t0004g0179 a0001c0001t0004g0190 a0001c0001t0006g0121 a0001c0001t0007g0122 a0001c0001t0007g0150 a0001c0001t0008g0127 a0001c0001t0010g0107 a0001c0001t0012g0186 a0001c0001t0016g0176 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0002g0010 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0036 a0001c0002t0005g0043 a0001c0002t0006g0032	60	93	0.6452	13	c.254 others(29): Show c.254-1009_254-997dupTTTTTTTTTTTTT		ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	3/4						chr5	TogoVar
ARL2_chr11_65009160_65027184	65025779	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03041.hp1 HG02615.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0031 a0002c0002t0001g0034	2	153	0.0131	13	c.39 others(24): Show c.3924_*3925insTTTTTTTTTTTTT		ARL2	ENSG00000213465.8	transcript	ENST00000246747.9	protein_coding					3596		chr11	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01167.hp1 others(6): Show HG00099.hp1 HG00280.hp1 HG01167.hp1 HG01169.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp2 NA18946.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0006 a0001c0001t0002g0317 a0001c0001t0002g0322 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0009g0321	9	123	0.0732	13	c.4-3 others(26): Show c.4-3420_4-3419insATATATATATATA		ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5						chr10	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18969.hp1 NA18954.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0280 a0001c0001t0003g0274 a0001c0001t0003g0280	2	116	0.0172	13	c.4-3 others(26): Show c.4-3420_4-3419insAAATATATATATA		ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5						chr10	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03834.hp2 NA18964.hp2 HG00597.hp2 HG03834.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0247 a0001c0001t0002g0334 a0001c0001t0003g0267 a0001c0001t0002g0247 a0001c0001t0002g0334 a0001c0001t0003g0267	3	117	0.0256	13	c.4-3 others(26): Show c.4-3420_4-3419insAAAAATATATATA		ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5						chr10	TogoVar
ARL5C_chr17_39151894_39171161	39153334	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	48	0.0208	13	c.35 others(24): Show c.3559_*3560insACACACACACACA		ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding					3559		chr17	TogoVar
ARL5C_chr17_39151894_39171161	39159022	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	82	0.0122	13	c.491 others(30): Show c.491+1556_491+1568dupAAAAAAAAAAAAA		ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	5/5						chr17	TogoVar
ARL5C_chr17_39151894_39171161	39160713	A A	AAATATCA others(6): Show AAATATCAGGACTG	frameshift_variant frameshift_variant	HIGH	NA19067.hp2 NA19067.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0067 a0013c0010t0001g0067	1	408	0.0025	13	c.356 others(20): Show c.356_368dupCAGTCCTGATATT	p.Ala others(5): Show p.Ala124fs	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	5/6	769/941	368/540	123/179			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69101316	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02135.hp2 HG02523.hp2 others(3): Show HG02056.hp1 HG02135.hp2 HG02523.hp2 NA18972.hp2 NA19079.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0029 a0001c0002t0006g0054 a0001c0002t0006g0097 a0001c0002t0006g0029 a0001c0002t0006g0054 a0001c0002t0006g0097	6	290	0.0207	13	c.177 others(28): Show c.177-514_177-502dupTTTTTTTTTTTTT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL6IP6_chr2_152713620_152767396	152746001	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	54	0.0185	13	c.587 others(32): Show c.587+10896_587+10908dupTTTTTTTTTTTTT		ARL6IP6	ENSG00000177917.12	transcript	ENST00000326446.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ARL8A_chr1_202128404_202149737	202145831	A A	ATTCTGTT others(6): Show ATTCTGTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	121	0.0083	13	c.-12 others(24): Show c.-1260_-1259insAAAAAAAACAGAA		ARL8A	ENSG00000143862.8	transcript	ENST00000272217.7	protein_coding					1095		chr1	TogoVar
ARMC10_chr7_103070140_103104759	103090728	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02257.hp1 others(5): Show HG01106.hp2 HG02109.hp1 HG02257.hp1 HG02622.hp1 HG02717.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0005 a0006c0008 a0001c0001 a0003c0005 a0006c0008	a0001c0001t0020 a0003c0005t0021 a0003c0005t0052 others(1): Show a0001c0001t0020 a0003c0005t0021 a0003c0005t0052 a0006c0008t0009	a0001c0001t0020g0145 a0003c0005t0021g0012 a0003c0005t0052g0142 others(1): Show a0001c0001t0020g0145 a0003c0005t0021g0012 a0003c0005t0052g0142 a0006c0008t0009g0057	8	22	0.3636	13	c.529 others(30): Show c.529-1745_529-1733dupAAAAAAAAAAAAA		ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMC12_chr6_35732032_35754079	35747057	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01257.hp1 others(19): Show HG00741.hp1 HG00741.hp2 HG01257.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02132.hp2 HG02300.hp2 HG02602.hp2 HG03017.hp1 HG03710.hp2 HG06807.hp1 NA18906.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18961.hp1 NA18983.hp1 NA18987.hp2 NA19004.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0015	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0002c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0037 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0074 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0002t0001g0037 a0001c0007t0001g0195 a0002c0015t0001g0151	22	224	0.0982	13	c.445 others(28): Show c.445-198_445-186dupAAAAAAAAAAAAA		ARMC12	ENSG00000157343.9	transcript	ENST00000373866.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMC1_chr8_65597458_65639177	65620798	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01256.hp1 others(1): Show HG00639.hp1 HG01123.hp2 HG01256.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0186 a0001c0001t0003g0208 a0001c0001t0003g0027 a0001c0001t0003g0186 a0001c0001t0003g0208	4	388	0.0103	13	c.275 others(30): Show c.275+1464_275+1465insTTTTTTTTTTTTT		ARMC1	ENSG00000104442.10	transcript	ENST00000276569.8	protein_coding	3/6						chr8	TogoVar
ARMC1_chr8_65597458_65639177	65620799	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp2 others(36): Show HG00099.hp1 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01934.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02683.hp1 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG04228.hp1 HG06807.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0002t0003	a0001c0001t0001g0121 a0001c0001t0003g0003 a0001c0001t0003g0010 others(29): Show a0001c0001t0001g0121 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0026 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0018g0321 a0001c0002t0003g0207	39	226	0.1726	13	c.275 others(30): Show c.275+1463_275+1464insTTTTTTTTTTTTT		ARMC1	ENSG00000104442.10	transcript	ENST00000276569.8	protein_coding	3/6						chr8	TogoVar
ARMC1_chr8_65597458_65639177	65623307	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG03130.hp2 others(4): Show HG02486.hp1 HG02647.hp2 HG03130.hp2 NA18906.hp2 NA18942.hp1 NA19009.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0035 a0001c0001t0006g0037 a0001c0001t0006g0038 others(4): Show a0001c0001t0006g0035 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0002t0004g0255 a0001c0002t0004g0262	7	114	0.0614	13	c.184 others(28): Show c.184-966_184-954dupTTTTTTTTTTTTT		ARMC1	ENSG00000104442.10	transcript	ENST00000276569.8	protein_coding	2/6						chr8	TogoVar
ARMC1_chr8_65597458_65639177	65623324	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG04115.hp2 others(4): Show HG00140.hp2 HG00642.hp1 HG04115.hp2 NA18946.hp2 NA18965.hp2 NA19001.hp2 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0004 a0001c0003t0004 a0001c0004t0004	a0001c0003t0004g0287 a0001c0003t0004g0288 a0001c0003t0004g0289 others(4): Show a0001c0003t0004g0287 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0295 a0001c0004t0004g0284	7	375	0.0187	13	c.184 others(28): Show c.184-971_184-970insGTTTTTTTTTTTT		ARMC1	ENSG00000104442.10	transcript	ENST00000276569.8	protein_coding	2/6						chr8	TogoVar
ARMC1_chr8_65597458_65639177	65624498	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02818.hp1 HG03491.hp2 HG01070.hp2 HG02818.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0228 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0228	3	176	0.0170	13	c.184 others(30): Show c.184-2157_184-2145dupTTTTTTTTTTTTT		ARMC1	ENSG00000104442.10	transcript	ENST00000276569.8	protein_coding	2/6						chr8	TogoVar
ARMC2_chr6_108843422_108979476	108890189	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	42	0.0238	13	c.672 others(30): Show c.672-4250_672-4238dupAAAAAAAAAAAAA		ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMC8_chr3_138182301_138303373	138231961	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20300.hp1 HG02723.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	16	0.1250	13	c.528 others(30): Show c.528+2966_528+2978dupTTTTTTTTTTTTT		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC8_chr3_138182301_138303373	138252746	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	14	0.0714	13	c.113 others(32): Show c.1134+7567_1134+7579dupCCCCCCCCCCCCC		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMH3_chr10_101840599_102061173	101946071	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG03453.hp1 HG02145.hp1 HG02572.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0228 a0001c0001t0004g0160 a0001c0001t0004g0164 a0001c0001t0002g0228 a0001c0001t0004g0160 a0001c0001t0004g0164	3	50	0.0600	13	c.170 others(32): Show c.1706-6146_1706-6134dupTTTTTTTTTTTTT		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25						chr10	TogoVar
ARMH3_chr10_101840599_102061173	102007159	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18969.hp2 HG02027.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0258 a0001c0001t0001g0041 a0001c0001t0001g0258	2	73	0.0274	13	c.955 others(28): Show c.955-539_955-527dupTTTTTTTTTTTTT		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	13/25						chr10	TogoVar
ARMH4_chr14_57995761_58157213	58094329	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0023 a0004c0004t0003g0023	1	119	0.0084	13	c.208 others(32): Show c.2089+2382_2089+2394dupTTTTTTTTTTTTT		ARMH4	ENSG00000139971.15	transcript	ENST00000267485.7	protein_coding	5/7						chr14	TogoVar
ARMT1_chr6_151447466_151475101	151449060	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	135	0.0074	13	c.-34 others(24): Show c.-3486_-3485insAAAAAAAAAAAAA		ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding					3405		chr6	TogoVar
ARMT1_chr6_151447466_151475101	151472825	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	13	c.37 others(24): Show c.3715_*3716insTATATATATATAT		ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding					2725		chr6	TogoVar
ARNT2_chr15_80399382_80602933	80516828	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0008g0162 a0001c0002t0004g0062 a0001c0001t0008g0162 a0001c0002t0004g0062	2	12	0.1667	13	c.877 others(30): Show c.877+2423_877+2424insTATATATATATAT		ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	8/18						chr15	TogoVar
ARPC2_chr2_218212189_218259348	218215154	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	330	0.0030	13	c.-21 others(24): Show c.-2109_-2108insAAAGAAAGAAAGA		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding					2034		chr2	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02735.hp1 HG02735.hp2 HG02258.hp2 HG02735.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0137 a0001c0001t0001g0177 a0001c0001t0004g0112 a0001c0001t0001g0137 a0001c0001t0001g0177 a0001c0001t0004g0112	3	16	0.1875	13	c.-16 others(24): Show c.-1645_-1644insAAAAAAAAAAAAA		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding					1570		chr2	TogoVar
ARPC3_chr12_110429823_110455337	110450831	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02970.hp1 HG03453.hp2 others(1): Show HG02129.hp1 HG02970.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0112 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0197	4	15	0.2667	13	c.-57 others(22): Show c.-572_-571insTTTTTTTTTTTTT		ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding					495		chr12	TogoVar
ARRB1_chr11_75255122_75356661	75289835	T T	TCAACTGA others(6): Show TCAACTGACAGCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	318	0.0031	13	c.51+ others(26): Show c.51+161_51+173dupGAGCTGTCAGTTG		ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	2/15						chr11	TogoVar
ARRB2_chr17_4705632_4726497	4709638	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	58	0.0172	13	c.-10 others(24): Show c.-1084_-1083insAAAAAAAAAAAAA		ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding					993		chr17	TogoVar
ARRB2_chr17_4705632_4726497	4715720	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19030.hp2 HG00642.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	124	0.0161	13	c.55- others(26): Show c.55-248_55-247insCACACACAACACA		ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARRB2_chr17_4705632_4726497	4724411	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01255.hp1 others(18): Show HG00140.hp1 HG01070.hp1 HG01255.hp1 HG02258.hp2 HG02280.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18979.hp1 NA19065.hp1 NA19075.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0056 a0001c0003t0001g0078	21	100	0.2100	13	c.33 others(24): Show c.3372_*3373insAAAAAAAAAAAAA		ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding					2915		chr17	TogoVar
ARRB2_chr17_4705632_4726497	4724411	C C	CACAAAAA others(6): Show CACAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18948.hp2 NA19080.hp1 NA18946.hp1 NA18948.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0060 a0001c0002t0001g0023 a0001c0002t0001g0060	3	82	0.0366	13	c.33 others(24): Show c.3372_*3373insACAAAAAAAAAAA		ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding					2915		chr17	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(6): Show ATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	148	0.0068	13	c.-44 others(24): Show c.-4459_-4458insTATATATATATTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(6): Show ATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG04199.hp1 HG01123.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0005 a0001c0001t0001g0070	2	149	0.0134	13	c.-44 others(24): Show c.-4459_-4458insTATATATTTTTTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATTT others(6): Show ATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18979.hp1 HG04204.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	149	0.0134	13	c.-44 others(24): Show c.-4459_-4458insTATATTTTTTTTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4426		chr9	TogoVar
ARRDC5_chr19_4885437_4907896	4886710	A A	ATATATTT others(6): Show ATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18969.hp1 NA18975.hp1 NA18522.hp2 NA18969.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0011 a0001c0001t0001g0099 a0001c0001t0001g0119	3	223	0.0135	13	c.43 others(24): Show c.4335_*4336insAAAAAAAAATATA		ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding					3726		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4898665	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0347 a0001c0002t0002g0347	1	160	0.0063	13	c.254 others(30): Show c.254-1802_254-1790dupAAAAAAAAAAAAA		ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	1/2						chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4903030	T T	TTTTTCAC others(6): Show TTTTTCACTGGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG04199.hp1 HG01169.hp2 HG02602.hp1 HG04199.hp1	a0003 a0003	a0003c0005 a0003c0006 a0003c0005 a0003c0006	a0003c0005t0002 a0003c0006t0001 a0003c0005t0002 a0003c0006t0001	a0003c0005t0002g0007 a0003c0006t0001g0032 a0003c0006t0001g0033 a0003c0005t0002g0007 a0003c0006t0001g0032 a0003c0006t0001g0033	3	410	0.0073	13	c.-20 others(22): Show c.-206_-205insGAACCAGTGAAAA		ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding					135		chr19	TogoVar
ARSB_chr5_78772209_78990310	78937349	C C	CATATATA others(6): Show CATATATATGTAAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	358	0.0028	13	c.898 others(32): Show c.898+17933_898+17945dupCTTACATATATAT		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7						chr5	TogoVar

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