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
ARK2N_chr18_46169034_46271992	46259885	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01256.hp2 HG01884.hp1 others(8): Show HG01168.hp2 HG01256.hp2 HG01884.hp1 HG02015.hp2 HG02257.hp1 HG02615.hp1 HG03130.hp2 NA18947.hp2 NA18998.hp1 NA19002.hp1 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0005c0006t0012	a0001c0001t0003g0079 a0001c0001t0003g0109 a0001c0001t0003g0124 others(8): Show a0001c0001t0003g0079 a0001c0001t0003g0109 a0001c0001t0003g0124 a0001c0001t0004g0032 a0001c0001t0004g0034 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0012g0016 a0001c0001t0012g0017 a0001c0001t0012g0018 a0005c0006t0012g0019	11	137	0.0803	32	c.102 others(51): Show c.1026-3030_1026-3029insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	153	0.0065	32	c.554 others(49): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0328	1	115	0.0087	32	c.4-3 others(45): Show c.4-3420_4-3419insAAAAAAAATATATATATATATATATATATATA	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL5C_chr17_39151894_39171161	39163345	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 NA21309.hp1 HG01070.hp1 HG01071.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0080 a0001c0001t0001g0033 a0001c0001t0001g0080	3	67	0.0448	32	c.108 others(47): Show c.108-519_108-488dupAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	258	0.0039	32	c.62 others(43): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL8B_chr3_5117292_5185911	5118220	A A	ACATATGC others(25): Show ACATATGCTTATATATGTATATATATGTATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01081.hp1 others(22): Show HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01109.hp1 HG01928.hp1 HG02135.hp1 HG02155.hp2 HG02602.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp2 HG03688.hp2 HG03831.hp2 NA18906.hp1 NA18952.hp1 NA18962.hp1 NA18984.hp2 NA18992.hp2 NA19002.hp1 NA19057.hp1 NA19063.hp1 NA19075.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(21): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0174 a0001c0001t0002g0197 a0001c0001t0003g0259 a0001c0001t0004g0088 a0001c0001t0004g0161	25	301	0.0831	32	c.-42 others(43): Show c.-4246_-4245insCATATGCTTATATATGTATATATATGTATAAG	ARL8B	ENSG00000134108.14	transcript	ENST00000256496.8	protein_coding		4071		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099575	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01070.hp2 others(27): Show HG00544.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01928.hp1 HG02071.hp1 HG02258.hp1 HG02273.hp2 HG02809.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03834.hp2 HG04204.hp2 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18969.hp2 NA19070.hp2 NA19077.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0006 a0001c0001t0019 a0001c0003t0029 others(2): Show a0001c0001t0006 a0001c0001t0019 a0001c0003t0029 a0002c0002t0006 a0002c0002t0056	a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0006g0011 others(16): Show a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0006g0011 a0001c0001t0006g0013 a0001c0001t0006g0023 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0006g0103 a0001c0001t0006g0131 a0001c0001t0019g0002 a0001c0001t0019g0005 a0001c0001t0019g0119 a0001c0001t0019g0121 a0001c0003t0029g0047 a0001c0003t0029g0135 a0002c0002t0006g0003 a0002c0002t0006g0035 a0002c0002t0006g0059 a0002c0002t0056g0003	30	93	0.3226	32	c.10 others(43): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMC2_chr6_108843422_108979476	108881296	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp2 HG01361.hp1 others(15): Show HG00597.hp2 HG01106.hp2 HG01361.hp1 HG01516.hp1 HG01934.hp1 HG02004.hp2 HG02015.hp2 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02735.hp1 HG03041.hp1 HG03453.hp2 HG03490.hp1 HG03834.hp1 HG04228.hp2 NA19043.hp1 NA19056.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0229 others(15): Show a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0002g0223 a0001c0001t0002g0260 a0003c0003t0002g0187	18	80	0.2250	32	c.671 others(49): Show c.671+4967_671+4968insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMH3_chr10_101840599_102061173	101935173	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	259	0.0039	32	c.178 others(51): Show c.1781+4689_1781+4690insTATATATATATATATATATATATATA TATATA	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02165.hp1 NA18971.hp2 others(1): Show HG01169.hp2 HG02165.hp1 NA18971.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0006g0261	4	69	0.0580	32	c.178 others(51): Show c.1781+4688_1781+4689insATATATATATATATATATATATATAT ATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG02602.hp2 others(1): Show HG01074.hp2 HG01261.hp2 HG02602.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0136 a0001c0001t0001g0196 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0136 a0001c0001t0001g0196 a0001c0001t0001g0222	4	17	0.2353	32	c.-16 others(43): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARPC3_chr12_110429823_110455337	110450831	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	12	0.0833	32	c.-57 others(41): Show c.-572_-571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		495		chr12	TogoVar
ARPP21_chr3_35634525_35799486	35748067	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	133	0.0075	32	c.213 others(51): Show c.2137+4105_2137+4106insGAAGGAAGGAAGGAAGAAAGAAAGAA AGAAAG	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35748067	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	133	0.0075	32	c.213 others(51): Show c.2137+4105_2137+4106insGAAGGAAGGAAGGAAGGAAGGAAGAA AGAAAG	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRDC4_chr15_97955703_97978833	97975347	T T	TGTGGAGA others(25): Show TGTGGAGAGCAGTAAACGCTCACCCCCAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0027 a0002c0002t0003g0027	1	420	0.0024	32	c.41 others(43): Show c.4160_*4161insGTGGAGAGCAGTAAACGCTCACCCCCAGGAGA	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding		1515		chr15	TogoVar
ARSD_chrX_2898972_2934339	2908231	T T	TTATCTAT others(25): Show TTATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0025 a0005c0019t0025	a0005c0019t0025g0210 a0005c0019t0025g0210	1	338	0.0030	32	c.142 others(49): Show c.1420+489_1420+490insGATAGATAGATAGATAGATAGATAGATA GATA	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	9/9			chrX	TogoVar
ARSF_chrX_3036471_3117727	3036741	T T	TCTTATAT others(25): Show TCTTATATAAAATATTATATATATTTTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0008 a0004c0006t0001g0009 a0004c0006t0001g0008 a0004c0006t0001g0009	2	185	0.0108	32	c.-49 others(43): Show c.-4951_-4950insCTTATATAAAATATTATATATATTTTATATAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4729		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036741	T T	TCTTATAT others(25): Show TCTTATATAAAATATTATATATATTTTATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG01169.hp1 HG00733.hp2 HG01168.hp2 HG01169.hp1	a0001 a0005 a0001 a0005	a0001c0013 a0005c0008 a0001c0013 a0005c0008	a0001c0013t0004 a0005c0008t0004 a0001c0013t0004 a0005c0008t0004	a0001c0013t0004g0190 a0005c0008t0004g0020 a0001c0013t0004g0190 a0005c0008t0004g0020	3	239	0.0126	32	c.33 others(43): Show c.3356_*3357insCTTATATAAAATATTATATATATTTTATATAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2631		chrX	TogoVar
ART1_chr11_3640128_3669416	3663076	A A	ATCTCATC others(25): Show ATCTCATCTCATCTCATCTCATCTCATCTCATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	326	0.0031	32	c.887 others(49): Show c.887-1014_887-1013insTCATCTCATCTCATCTCATCTCATCTCA TCTC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp1 HG03491.hp2 others(9): Show HG02735.hp2 HG03017.hp1 HG03491.hp2 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0027	a0001c0001t0002g0002 a0001c0001t0002g0135 a0001c0001t0002g0136 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0007g0002 a0001c0001t0012g0002 a0001c0001t0012g0134 a0001c0001t0027g0184	12	121	0.0992	32	c.886 others(47): Show c.886-927_886-926insGCCTGCCTGCCTGCCTGCCTTCCTTCCTTC CT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	110	0.0091	32	c.886 others(47): Show c.886-927_886-926insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18951.hp2 NA20129.hp1 HG03195.hp2 NA18951.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0002c0002t0011 a0001c0001t0002 a0001c0001t0012 a0002c0002t0011	a0001c0001t0002g0173 a0001c0001t0012g0296 a0002c0002t0011g0235 a0001c0001t0002g0173 a0001c0001t0012g0296 a0002c0002t0011g0235	3	297	0.0101	32	c.270 others(51): Show c.2701+3557_2701+3558insACACACACACACACACACACACACAC ACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGCGCG others(25): Show TGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	152	0.0066	32	c.270 others(51): Show c.2701+3523_2701+3524insGTGCGCGCGCGCGCGCGCACGCACAC GCGCAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	152	0.0066	32	c.270 others(51): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCGCACACAC ACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	152	0.0066	32	c.270 others(51): Show c.2701+3523_2701+3524insGCACACACACACACACACACACACAC ACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153332	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0301 a0002c0002t0013g0301	1	215	0.0047	32	c.101 others(49): Show c.1011-528_1011-527insACATATATATATATATATATATATATAT ATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153332	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	215	0.0047	32	c.101 others(49): Show c.1011-528_1011-527insATACATATATATATATATATATATATAT ATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	262	0.0038	32	c.187 others(51): Show c.187-39767_187-39766insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02257.hp1 HG03130.hp2 HG01358.hp2 HG02257.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0002 a0001c0004t0005 a0002c0001t0001 a0001c0002t0002 a0001c0004t0005 a0002c0001t0001	a0001c0002t0002g0198 a0001c0004t0005g0196 a0002c0001t0001g0089 a0001c0002t0002g0198 a0001c0004t0005g0196 a0002c0001t0001g0089	3	96	0.0313	32	c.127 others(51): Show c.127-25080_127-25079insAAAATATATATATATATATATATATA TATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(25): Show TATATATATATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	105	0.0095	32	c.127 others(51): Show c.127-25062_127-25061insTATATATATATATATATACATATATA TATACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397727	G G	GAGATATA others(25): Show GAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0010 a0001c0004t0005g0010	1	182	0.0055	32	c.268 others(51): Show c.2685-2295_2685-2294insGATATATATATATATATATATATATA TATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB13_chr10_5633867_5671595	5648875	C C	CAAACACC others(25): Show CAAACACCCACGCAGGTAAACACCCACTCGGGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	444	0.0023	32	c.517 others(45): Show c.517+94_517+95insACCCGAGTGGGTGTTTACCTGCGTGGGTGTTT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	4/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662579	A A	AAGAGAAG others(25): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	440	0.0023	32	c.43+ others(47): Show c.43+3898_43+3929dupCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	4	0.2500	32	c.470 others(47): Show c.470-656_470-655insCACACACACACACACACACACACACACACA CA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0001 a0001c0001t0032g0001	1	87	0.0115	32	c.91 others(41): Show c.919_*920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB3_chr2_53664980_53791953	53773321	C C	CAAGATAT others(25): Show CAAGATATTACAAAGATATTACAAGATATTGCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20129.hp2 HG02145.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0008 a0001c0001t0001g0009	2	348	0.0057	32	c.-13 others(49): Show c.-13-7737_-13-7736insTGCAATATCTTGTAATATCTTTGTAATA TCTT	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	1/9			chr2	TogoVar
ASCC1_chr10_72091032_72221276	72218165	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	166	0.0060	32	c.-19 others(43): Show c.-1993_-1992insATATATATATATTTTTTTTTTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1890		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18941.hp1 HG00280.hp1 NA18941.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0067 a0002c0003t0002g0008 a0002c0003t0002g0067	2	138	0.0145	32	c.530 others(51): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(25): Show TTATATATATATATATACTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0151 a0003c0005t0002g0151	1	113	0.0088	32	c.478 others(51): Show c.4786-1644_4786-1643insTATATATATATATAAGTATATATATA TATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(25): Show TTATATATATATATTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0179 a0003c0004t0004g0179	1	113	0.0088	32	c.478 others(51): Show c.4786-1644_4786-1643insTATATATATATATATATAAATATATA TATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962438	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	328	0.0030	32	c.31 others(43): Show c.3124_*3125insCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1926		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTCCTTC others(25): Show CTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0001 a0004c0007t0004g0001	1	216	0.0046	32	c.31 others(43): Show c.3126_*3127insTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCTTC others(25): Show CTTTCTTCCTTCCTTCCTTTCTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0005 a0002c0009t0005	a0002c0009t0005g0001 a0002c0009t0005g0001	1	216	0.0046	32	c.31 others(43): Show c.3126_*3127insTTTCTTCCTTCCTTCCTTTCTCTTTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASH1L_chr1_155330268_155567803	155411578	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	172	0.0058	32	c.600 others(51): Show c.6008+4165_6008+4166insATATATATATATATATATATATATAT ATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AACATATA others(25): Show AACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	127	0.0079	32	c.600 others(51): Show c.6008+4161_6008+4162insATATATATATATATATATATATATAT ATATGT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	127	0.0079	32	c.600 others(51): Show c.6008+4161_6008+4162insATATATATATATATATATATATATAT ATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(25): Show AATAAATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	23	0.0435	32	c.600 others(51): Show c.6008+4157_6008+4158insATATATATATATATATATATATATTT ATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(25): Show AATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02074.hp1 HG02970.hp1 others(3): Show HG01099.hp1 HG02074.hp1 HG02970.hp1 HG03492.hp1 NA18970.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0151 a0002c0002t0001g0084	6	28	0.2143	32	c.600 others(51): Show c.6008+4157_6008+4158insATATATATATATATATATATATATAT ATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	23	0.0435	32	c.600 others(51): Show c.6008+4126_6008+4157dupATATATATATATATATATATATATAT ATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03453.hp1 HG02698.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0139 a0001c0004t0001g0174 a0001c0002t0002g0139 a0001c0004t0001g0174	2	106	0.0189	32	c.708 others(51): Show c.708+21763_708+21794dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar

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