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
ARPC3_chr12_110429823_110455337	110431990	G G	GATATATC others(21): Show GATATATCTACATATCTATATATAGATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	332	0.0030	28	c.31 others(39): Show c.3164_*3165insAGATCTATATATAGATATGTAGATATAT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		2832		chr12	TogoVar
ARPC3_chr12_110429823_110455337	110450831	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01175.hp2 NA18952.hp1 others(1): Show HG00423.hp2 HG01175.hp2 NA18952.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0107 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0107 a0001c0001t0001g0116	4	15	0.2667	28	c.-57 others(37): Show c.-572_-571insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		495		chr12	TogoVar
ARPP21_chr3_35634525_35799486	35748067	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01255.hp1 HG02257.hp1 HG00733.hp2 HG01255.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0046 a0001c0005t0001g0036 a0001c0005t0001g0081 a0001c0001t0001g0046 a0001c0005t0001g0036 a0001c0005t0001g0081	3	135	0.0222	28	c.213 others(47): Show c.2137+4105_2137+4106insGAAGGAAGGAAGGAAGAAAGAAAGAA AG	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRB1_chr11_75255122_75356661	75351057	G G	GTGAGATT others(21): Show GTGAGATTACGTTAAGAATAGATAGTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	318	0.0031	28	c.20+ others(41): Show c.20+530_20+531insAGAACTATCTATTCTTAACGTAATCTCA	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	1/15			chr11	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0100 a0001c0007t0004g0100	1	98	0.0102	28	c.313 others(45): Show c.313-3352_313-3325dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSD_chrX_2898972_2934339	2908231	T T	TTATCTAT others(21): Show TTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02965.hp1 HG01070.hp2 HG01071.hp2 HG02965.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0020 a0005c0008t0026 a0005c0008t0020 a0005c0008t0026	a0005c0008t0020g0006 a0005c0008t0026g0032 a0005c0008t0020g0006 a0005c0008t0026g0032	3	340	0.0088	28	c.142 others(45): Show c.1420+489_1420+490insGATAGATAGATAGATAGATAGATAGATA	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	9/9			chrX	TogoVar
ARSD_chrX_2898972_2934339	2908238	T T	TCTATCTA others(21): Show TCTATCTATCTATCTATCTATCTATCTAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0024 a0008c0020t0024	a0008c0020t0024g0113 a0008c0020t0024g0113	1	342	0.0029	28	c.142 others(45): Show c.1420+482_1420+483insGTAGATAGATAGATAGATAGATAGATAG	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	9/9			chrX	TogoVar
ARSH_chrX_3001546_3039111	3012603	T T	TATATATA others(21): Show TATATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19003.hp1 HG00673.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	205	0.0098	28	c.215 others(43): Show c.215-438_215-437insATATATAATATATATATATATAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00609.hp1 others(7): Show HG00280.hp1 HG00438.hp1 HG00609.hp1 NA18975.hp1 NA18983.hp1 NA18985.hp1 NA19055.hp1 NA19057.hp2 NA19066.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0046 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0172	10	52	0.1923	28	c.21 others(39): Show c.2113_*2114insTGTGTGTGTGTGTGGAGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01256.hp1 others(9): Show HG00738.hp1 HG01099.hp1 HG01256.hp1 HG01952.hp1 HG02280.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp1 NA18970.hp1 NA19000.hp1 NA19012.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0007 a0008c0011t0001 a0001c0001t0001 a0001c0001t0007 a0008c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0041 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0007g0130 a0008c0011t0001g0175	12	54	0.2222	28	c.21 others(39): Show c.2113_*2114insTGTGTGTGTGTGTGTGGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
ARV1_chr1_230974094_231005733	230999882	G G	GAGATTGC others(21): Show GAGATTGCGTCGAGGACCTAGTATTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	400	0.0025	28	c.5- others(41): Show c.5-256_*5-255insAGATTGCGTCGAGGACCTAGTATTGTGT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	5/5			chr1	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp2 HG02055.hp1 others(8): Show HG01109.hp2 HG01934.hp2 HG02055.hp1 HG02273.hp2 HG02300.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp1 NA19064.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012	a0001c0001t0002g0004 a0001c0001t0002g0070 a0001c0001t0002g0071 others(7): Show a0001c0001t0002g0004 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0137 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0012g0004 a0001c0001t0012g0127	11	120	0.0917	28	c.886 others(43): Show c.886-927_886-926insGCCTGCCTGCCTGCCTGCCTTCCTTCCT	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(21): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01167.hp1 others(21): Show HG00544.hp1 HG01069.hp1 HG01167.hp1 HG01433.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02165.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18957.hp1 NA18962.hp1 NA18975.hp2 NA18978.hp1 NA18990.hp1 NA18997.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19070.hp2 NA19082.hp2 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0004t0007	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 others(19): Show a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0130 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0007g0014 a0001c0001t0007g0016 a0001c0001t0007g0113 a0001c0001t0007g0120 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0012g0152 a0001c0004t0007g0164	24	133	0.1805	28	c.886 others(43): Show c.886-927_886-926insGCCTGCCTGCCTGCCTTCCTTCCTTCCT	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(21): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0143 a0001c0011t0002g0143	1	110	0.0091	28	c.886 others(43): Show c.886-927_886-926insGCCTGCCTGCCTTCCTTCCTTCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	112	0.0089	28	c.55 others(39): Show c.5576_*5577insAAAAAAAAATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0031 a0001c0002t0004g0031	1	112	0.0089	28	c.55 others(39): Show c.5576_*5577insAAAAAAATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02056.hp2 HG02683.hp2 others(1): Show HG00408.hp2 HG02056.hp2 HG02683.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0093 a0001c0001t0003g0112 a0001c0001t0005g0003 others(1): Show a0001c0001t0003g0093 a0001c0001t0003g0112 a0001c0001t0005g0003 a0001c0001t0005g0109	4	115	0.0348	28	c.55 others(39): Show c.5576_*5577insAAAAATATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	112	0.0089	28	c.55 others(39): Show c.5576_*5577insAAATATATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0027 a0004c0012t0027	a0004c0012t0027g0233 a0004c0012t0027g0233	1	295	0.0034	28	c.270 others(47): Show c.2701+3557_2701+3558insACACACACACACACACACACACACAC AC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 NA19043.hp2 HG02622.hp2 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0254 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0254	3	154	0.0195	28	c.270 others(47): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACACACACAC AC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	152	0.0066	28	c.270 others(47): Show c.2701+3523_2701+3524insGCACACACACACACACACACACACAC AC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0244 a0001c0008t0001g0244	1	68	0.0147	28	c.240 others(47): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153357	A A	ATATATAT others(21): Show ATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	299	0.0033	28	c.101 others(45): Show c.1011-553_1011-552insCATATATATATATATATATACATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0274 a0002c0002t0003g0274	1	112	0.0089	28	c.187 others(47): Show c.187-39735_187-39734insAGAGAGAGAGAGAGAGAGAGAGTGTG TG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACAGA others(21): Show CACACAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0296 a0001c0001t0012g0296	1	125	0.0080	28	c.186 others(47): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTCTCTCTGT GT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACAGAGA others(21): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG06807.hp2 HG02723.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0298 a0001c0001t0012g0295 a0001c0001t0012g0298	2	126	0.0159	28	c.186 others(47): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTCTCTCTCT GT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300186	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0037 a0001c0007t0001g0037	1	306	0.0033	28	c.186 others(47): Show c.186+57830_186+57831insGCTCTCTCTCTCTCTCTCTCTCTCTC TC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0025 a0002c0005t0001g0025	1	94	0.0106	28	c.127 others(47): Show c.127-25080_127-25079insAAAATATATATATATATATATATATA TA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0045 a0001c0013t0017g0045	1	94	0.0106	28	c.127 others(47): Show c.127-25080_127-25079insAATATATATATATATATATATATATA TA	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(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0038 a0001c0003t0004g0038	1	105	0.0095	28	c.127 others(47): Show c.127-25062_127-25061insTATATATATATATATATATACACACA CA	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(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0122 a0002c0001t0001g0122	1	105	0.0095	28	c.127 others(47): Show c.127-25062_127-25061insTATATATATATATATATATATACACA CA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23473974	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	53	0.0189	28	c.129 others(47): Show c.129+10030_129+10031insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASB14_chr3_57263342_57297685	57284088	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	320	0.0031	28	c.470 others(43): Show c.470-650_470-649insCACACACACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp2 NA18979.hp2 others(4): Show HG01192.hp1 HG02129.hp2 NA18979.hp2 NA18994.hp1 NA19060.hp1 NA19066.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0169	7	10	0.7000	28	c.470 others(43): Show c.470-683_470-656dupCACACACACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0052 a0001c0001t0027g0052	1	87	0.0115	28	c.91 others(37): Show c.919_*920insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASCC1_chr10_72091032_72221276	72198353	G G	GGAGGGGA others(21): Show GGAGGGGAGGGGAGGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA21309.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0054 a0001c0001t0001g0076	2	178	0.0112	28	c.311 others(45): Show c.311-1365_311-1364insTCCCCTCCCCTCCCCCTCCCCTCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	1	137	0.0073	28	c.530 others(47): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608097	C C	CACATATA others(21): Show CACATATATATGTATATATATCTATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	211	0.0047	28	c.478 others(47): Show c.4786-1037_4786-1010dupATATATAGATATATATACATATATAT GT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608118	C C	CTATATAT others(21): Show CTATATATACATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(48): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01099.hp1 HG01192.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02129.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0019	a0001c0002 a0001c0019 a0001c0020 others(4): Show a0001c0002 a0001c0019 a0001c0020 a0004c0008 a0006c0022 a0007c0010 a0019c0031	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(8): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0019t0012 a0001c0020t0003 a0004c0008t0003 a0006c0022t0003 a0007c0010t0007 a0019c0031t0003	a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0135 others(48): Show a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0135 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0132 a0001c0002t0003g0138 a0001c0002t0003g0141 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0153 a0001c0002t0006g0181 a0001c0002t0006g0182 a0001c0002t0006g0186 a0001c0002t0011g0003 a0001c0002t0013g0122 a0001c0019t0012g0121 a0001c0020t0003g0134 a0004c0008t0003g0050 a0006c0022t0003g0099 a0007c0010t0007g0002 a0007c0010t0007g0004 a0019c0031t0003g0111	51	129	0.3953	28	c.478 others(47): Show c.4786-1031_4786-1030insCATATATATACATATATATGTATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608145	T T	TGTATATA others(21): Show TGTATATATACATATATATGTATATATAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0290 a0001c0002t0002g0089 a0001c0002t0001g0290 a0001c0002t0002g0089	2	311	0.0064	28	c.478 others(47): Show c.4786-1058_4786-1057insCTATATATACATATATATGTATATAT AC	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608289	T T	TTATATAT others(21): Show TTATATATACCTTATATATGTATACCTTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	106	0.0094	28	c.478 others(47): Show c.4786-1229_4786-1202dupTAAGGTATACATATATAAGGTATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608438	T T	TTATATAT others(21): Show TTATATATATATTATATATATATACTTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	237	0.0042	28	c.478 others(47): Show c.4786-1351_4786-1350insTAAAGTATATATATATAATATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608438	T T	TTATATAT others(21): Show TTATATATATTTTATATATATATACTTTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp2 HG01516.hp2 others(8): Show HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG02602.hp1 HG02809.hp1 HG03654.hp1 HG04199.hp1 NA19011.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 others(8): Show a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0295	11	247	0.0445	28	c.478 others(47): Show c.4786-1378_4786-1351dupTAAAGTATATATATATAAAATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608451	A A	ATATATAT others(21): Show ATATATATATACTTTATATATATATACTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	269	0.0037	28	c.478 others(47): Show c.4786-1391_4786-1364dupAAGTATATATATATAAAGTATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608490	C C	CTTTATAT others(21): Show CTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01952.hp2 others(4): Show HG00738.hp1 HG01175.hp2 HG01952.hp2 HG01978.hp1 HG02486.hp2 NA18951.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0250 a0001c0001t0001g0255 others(4): Show a0001c0001t0001g0228 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0304	7	139	0.0504	28	c.478 others(47): Show c.4786-1403_4786-1402insATATATATATAAAGTATATATATATA AA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608546	C C	CTTTATAT others(21): Show CTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20300.hp1 HG01109.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0224 a0001c0001t0001g0226	2	50	0.0400	28	c.478 others(47): Show c.4786-1486_4786-1459dupATATATATATAAAGTATATATATATA AA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(21): Show TTATATATATATATTTTTATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0012 a0001c0019t0012	a0001c0019t0012g0121 a0001c0019t0012g0121	1	113	0.0088	28	c.478 others(47): Show c.4786-1644_4786-1643insTATATATATATAAAAATATATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100681725	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0172 a0003c0004t0004g0172	1	98	0.0102	28	c.215 others(47): Show c.2152-1974_2152-1973insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTTCTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG04204.hp2 HG00738.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	217	0.0092	28	c.31 others(39): Show c.3126_*3127insTTCCTTCCTTCCTTTCTCTTTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCTTC others(21): Show CTTTCTTCCTTCCTTCCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	216	0.0046	28	c.31 others(39): Show c.3126_*3127insTTTCTTCCTTCCTTCCTTTCTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar

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