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
A2ML1_chr12_8817621_8881787	8843710	CCTTTTTT others(33): Show CCTTTTTTTTTCTTTTTTTTTTTTTTTGAGACACAGTCTCG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	366	0.0027	-40	c.147 others(57): Show c.1476+352_1476+391delTTTTTTTTCTTTTTTTTTTTTTTTGAGA CACAGTCTCGCT	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125085474	GTGGAACC others(33): Show GTGGAACCACACACATGCACGTTGCATCCACATGTGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	362	0.0028	-40	c.359 others(55): Show c.359-846_359-807delACACATGCACGTTGCATCCACATGTGTTTC ATGGAACCAC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AARSD1_chr17_42945526_42969454	42967175	TATATAAT others(33): Show TATATAATATAATATATAAAATATATATTATATAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	321	0.0031	-40	c.-27 others(51): Show c.-2775_-2736delTATATATTATATAATATATATTTTATATATTATA TTATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2722		chr17	TogoVar
ABAT_chr16_8669617_8789570	8737933	AAGAAAGG others(33): Show AAGAAAGGAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	303	0.0033	-40	c.70+ others(55): Show c.70+2126_70+2165delGAAAGGAAAGGAAGAAAGGAAGGAAGGAAG GAAGGAAGGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754662	ATTTATTT others(33): Show ATTTATTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	21	0.0476	-40	c.317 others(57): Show c.317-3091_317-3052delATTTATTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69218618	TATATATA others(33): Show TATATATATAAATGCATAGACTATATAGATGGAGAGCATAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA19043.hp1 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0007 a0007c0008t0004 a0007c0008t0007	a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(5): Show a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335	9	346	0.0260	-40	c.530 others(55): Show c.530+887_530+926delCTATGCTCTCCATCTATATAGTCTATGCAT TTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	6/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862673	CCGGGCCG others(33): Show CCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCCCACCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0026 a0002c0032t0001g0026	1	316	0.0032	-40	c.422 others(55): Show c.422-913_422-874delTGGGGGTGGGGGCCGGCCCGGCCCGGCCCG GCCCGGCCCG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2343708	CCTATCTA others(33): Show CCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	16	0.0625	-40	c.-37 others(51): Show c.-3714_-3675delATAGATAGATAGATAGATAGATAGATAGATAGAT AGATAG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		2981		chr16	TogoVar
ABCA4_chr1_93987834_94126148	94044064	CGCTTCCT others(33): Show CGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18959.hp2 NA19090.hp2 NA18950.hp1 NA18959.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0291	3	304	0.0099	-40	c.305 others(57): Show c.3050+509_3050+548delAAGGAAGGAAAGAAGGGAGGGAGGGAGG GGAGAAGGAAGC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	20/49			chr1	TogoVar
ABCB5_chr7_20610667_20762008	20681000	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03688.hp1 NA18949.hp2 others(3): Show HG00621.hp2 HG03688.hp1 NA18949.hp2 NA18988.hp2 NA18998.hp1 NA19077.hp1	a0008 a0011 a0028 others(3): Show a0008 a0011 a0028 a0032 a0062 a0067	a0008c0009 a0011c0013 a0028c0034 others(3): Show a0008c0009 a0011c0013 a0028c0034 a0032c0082 a0062c0081 a0067c0083	a0008c0009t0002 a0011c0013t0001 a0028c0034t0001 others(3): Show a0008c0009t0002 a0011c0013t0001 a0028c0034t0001 a0032c0082t0001 a0062c0081t0008 a0067c0083t0002	a0008c0009t0002g0177 a0011c0013t0001g0104 a0028c0034t0001g0114 others(3): Show a0008c0009t0002g0177 a0011c0013t0001g0104 a0028c0034t0001g0114 a0032c0082t0001g0108 a0062c0081t0008g0106 a0067c0083t0002g0107	6	331	0.0181	-40	c.170 others(57): Show c.1708-503_1708-464delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681022	CTTTCTTT others(33): Show CTTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG03209.hp1 others(1): Show HG01243.hp2 HG02622.hp1 HG03209.hp1 NA18522.hp2	a0002 a0007 a0010 a0002 a0007 a0010	a0002c0003 a0007c0070 a0010c0017 a0002c0003 a0007c0070 a0010c0017	a0002c0003t0003 a0002c0003t0011 a0007c0070t0009 others(1): Show a0002c0003t0003 a0002c0003t0011 a0007c0070t0009 a0010c0017t0003	a0002c0003t0003g0006 a0002c0003t0011g0015 a0007c0070t0009g0007 others(1): Show a0002c0003t0003g0006 a0002c0003t0011g0015 a0007c0070t0009g0007 a0010c0017t0003g0009	4	356	0.0112	-40	c.170 others(57): Show c.1708-481_1708-442delTTCTTTCTTTCTCTTTCTTTCTTTCTCT CTCTCTCTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681034	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0050 a0050	a0050c0059 a0050c0059	a0050c0059t0003 a0050c0059t0003	a0050c0059t0003g0013 a0050c0059t0003g0013	1	347	0.0029	-40	c.170 others(57): Show c.1708-455_1708-416delCTCTCTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC10_chr6_43422541_43455427	43425190	GGCCGCCC others(33): Show GGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0193 a0014c0023t0001g0193	1	340	0.0029	-40	c.-25 others(51): Show c.-2578_-2539delGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGC CCAGCA	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		2350		chr6	TogoVar
ABCC10_chr6_43422541_43455427	43425331	GGGGGCAG others(33): Show GGGGGCAGCCCCCGCCCGGCTAGCTGCCCCGTCCAGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	340	0.0029	-40	c.-24 others(51): Show c.-2437_-2398delGGGGCAGCCCCCGCCCGGCTAGCTGCCCCGTCCA GGAGGT	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		2209		chr6	TogoVar
ABCC4_chr13_95014835_95306451	95029195	TATATATA others(33): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0002 a0008c0031t0002	a0008c0031t0002g0002 a0008c0031t0002g0002	1	243	0.0041	-40	c.387 others(59): Show c.3870+5370_3870+5409delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(33): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0016 a0016	a0016c0048 a0016c0048	a0016c0048t0021 a0016c0048t0021	a0016c0048t0021g0187 a0016c0048t0021g0187	1	231	0.0043	-40	c.387 others(59): Show c.3870+5366_3870+5405delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029201	TATATATA others(33): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02622.hp2 HG03831.hp1 others(1): Show HG01952.hp1 HG02622.hp2 HG03831.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0001c0039 others(1): Show a0001c0002 a0001c0007 a0001c0039 a0002c0059	a0001c0002t0002 a0001c0007t0002 a0001c0039t0002 others(1): Show a0001c0002t0002 a0001c0007t0002 a0001c0039t0002 a0002c0059t0006	a0001c0002t0002g0189 a0001c0007t0002g0219 a0001c0039t0002g0111 others(1): Show a0001c0002t0002g0189 a0001c0007t0002g0219 a0001c0039t0002g0111 a0002c0059t0006g0061	4	226	0.0177	-40	c.387 others(59): Show c.3870+5364_3870+5403delCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029207	TATATATA others(33): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0008 a0001c0014t0008	a0001c0014t0008g0242 a0001c0014t0008g0242	1	238	0.0042	-40	c.387 others(59): Show c.3870+5358_3870+5397delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0030 a0001c0009t0023g0030	1	57	0.0175	-40	c.116 others(59): Show c.1162-1685_1162-1646delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCG8_chr2_43833971_43887988	43860077	CCCTCTGG others(33): Show CCCTCTGGACAGAACTCTGAGTATCTGGATAGAATTATCAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show HG01192.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0020 a0003c0010t0110 a0003c0010t0020 a0003c0010t0110	a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 a0003c0010t0110g0039	4	316	0.0127	-40	c.964 others(57): Show c.964+7218_964+7257delCAGAACTCTGAGTATCTGGATAGAATTA TCATCCTCTGGA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870963	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	373	0.0027	-40	c.-12 others(51): Show c.-1211_-1172delAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1089		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25312855	TCTCCGCC others(33): Show TCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGTGCGGAGCCC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	314	0.0032	-40	c.619 others(57): Show c.619+2030_619+2069delGGGCTCCGCACTTCTCAGACGGGGCGGC TGCCGGGCGGAG	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	6/12			chr20	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(33): Show GTGTATATGTATATATATATATATATATATATATATAAATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01516.hp2 NA18946.hp2 others(2): Show HG01109.hp2 HG01516.hp2 NA18946.hp2 NA18965.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0254 a0001c0001t0001g0270 a0001c0001t0001g0285 others(2): Show a0001c0001t0001g0254 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0001g0296 a0001c0001t0003g0193	5	205	0.0244	-40	c.117 others(59): Show c.117+10297_117+10336delGTATATGTATATATATATATATATAT ATATATATAAATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338928	GTATATGT others(33): Show GTATATGTATATATATATATATATATATATATATAAATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	305	0.0033	-40	c.117 others(59): Show c.117+10303_117+10342delGTATATATATATATATATATATATAT ATAAATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100830110	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	87	0.0115	-40	c.245 others(57): Show c.2458+428_2459-447delATATATATATATATATATATATATATAT ATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179135276	AGGAAGTG others(33): Show AGGAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02451.hp1 others(3): Show HG01109.hp1 HG02055.hp1 HG02451.hp1 HG03209.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0154 a0001c0001t0012g0195 a0001c0001t0012g0196 others(3): Show a0001c0001t0012g0154 a0001c0001t0012g0195 a0001c0001t0012g0196 a0001c0001t0012g0215 a0001c0001t0012g0220 a0001c0001t0012g0234	6	348	0.0172	-40	c.158 others(57): Show c.158-1942_158-1903delCAGATGTGATGGCGGCCGGGAAGAGGCG CTCCTCACTTCC	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114583440	CACACACA others(33): Show CACACACACACACACACACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG02622.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0110 a0001c0022t0160 a0001c0002t0110 a0001c0022t0160	a0001c0002t0110g0157 a0001c0022t0160g0152 a0001c0002t0110g0157 a0001c0022t0160g0152	2	254	0.0079	-40	c.380 others(57): Show c.380-7881_380-7842delATATATATATATGTGTGTGTGTGTGTGT GTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(33): Show CACACACACACACACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01978.hp2 HG02970.hp2 others(1): Show HG01358.hp2 HG01978.hp2 HG02970.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0015 a0001c0001t0041 a0001c0001t0105 others(1): Show a0001c0001t0015 a0001c0001t0041 a0001c0001t0105 a0003c0008t0012	a0001c0001t0015g0028 a0001c0001t0041g0230 a0001c0001t0105g0145 others(1): Show a0001c0001t0015g0028 a0001c0001t0041g0230 a0001c0001t0105g0145 a0003c0008t0012g0139	4	212	0.0189	-40	c.380 others(57): Show c.380-7893_380-7854delATATATATATATATATATATATATGTGT GTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM3_chr5_149136493_149265542	149225966	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0019 a0002c0005t0013g0019	1	234	0.0043	-40	c.758 others(57): Show c.758-4681_758-4642delGTGTGTGTGTGTGTGTATATATATATAT ATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1037045	ATCCATCC others(33): Show ATCCATCCATCCACCCATCCATCCACCCACCCACCCATCCT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02717.hp2 NA19030.hp1 HG01261.hp2 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0134 a0001c0001t0006g0117 a0001c0001t0008g0019 a0001c0001t0001g0134 a0001c0001t0006g0117 a0001c0001t0008g0019	3	336	0.0089	-40	c.179 others(61): Show c.1791+12965_1791+13004delAGGATGGGTGGGTGGGTGGATGGA TGGGTGGATGGATGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1062873	ACTGTTAT others(33): Show ACTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01192.hp1 others(8): Show HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02273.hp1 HG02738.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0032 a0001c0001t0081 a0001c0003t0012 a0001c0003t0082	a0001c0001t0003g0223 a0001c0001t0004g0335 a0001c0001t0004g0336 others(8): Show a0001c0001t0003g0223 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0005g0278 a0001c0001t0005g0319 a0001c0001t0007g0326 a0001c0001t0019g0056 a0001c0001t0032g0260 a0001c0001t0081g0303 a0001c0003t0012g0104 a0001c0003t0082g0286	11	333	0.0330	-40	c.118 others(59): Show c.1183-4046_1183-4007delCATCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1063548	CCTCTAGA others(33): Show CCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG03130.hp2 others(2): Show HG02486.hp2 HG02647.hp1 HG03130.hp2 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0008 a0001c0002t0011 a0001c0002t0091 others(2): Show a0001c0002t0008 a0001c0002t0011 a0001c0002t0091 a0001c0004t0024 a0001c0013t0018	a0001c0002t0008g0036 a0001c0002t0011g0229 a0001c0002t0091g0337 others(2): Show a0001c0002t0008g0036 a0001c0002t0011g0229 a0001c0002t0091g0337 a0001c0004t0024g0040 a0001c0013t0018g0107	5	336	0.0149	-40	c.118 others(59): Show c.1182+3489_1182+3528delCAACATGCATAGCCCTCAGTTCACAT AACAGTGTCTAGAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1112385	GAAATAGG others(33): Show GAAATAGGGAAGGGTTTCCAGGCAAAGAAGAGAAGGCCCGA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0276 a0001c0001t0015g0276	1	336	0.0030	-40	c.247 others(59): Show c.247-11690_247-11651delTCGGGCCTTCTCTTCTTTGCCTGGAA ACCCTTCCCTATTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469974	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02155.hp2 NA18964.hp1 HG01496.hp2 HG02155.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0009 a0001c0003 a0002c0002 a0002c0009	a0001c0003t0005 a0002c0002t0004 a0002c0009t0003 a0001c0003t0005 a0002c0002t0004 a0002c0009t0003	a0001c0003t0005g0143 a0002c0002t0004g0127 a0002c0009t0003g0050 a0001c0003t0005g0143 a0002c0002t0004g0127 a0002c0009t0003g0050	3	182	0.0165	-40	c.113 others(61): Show c.1136-50509_1136-50470delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469978	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0008 a0009c0019t0008	a0009c0019t0008g0020 a0009c0019t0008g0020	1	180	0.0056	-40	c.113 others(61): Show c.1136-50505_1136-50466delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37202678	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0293 a0001c0001t0034g0299 a0001c0001t0001g0293 a0001c0001t0034g0299	2	298	0.0067	-40	c.405 others(59): Show c.4057-2235_4057-2196delGTGTGTATATATATATATATATATAT ATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109140231	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCATCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01069.hp1 HG01106.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0268 a0009c0025t0001g0299 a0009c0025t0001g0268 a0009c0025t0001g0299	2	212	0.0094	-40	c.653 others(55): Show c.653+198_653+237delATCCTTCCTTCCTTCTTTCCTTCCTTCCTT CCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140256	ATCCTTCC others(33): Show ATCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 NA18906.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp1	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0069 a0007c0057 a0014c0114 a0001c0069 a0007c0057 a0014c0114	a0001c0069t0002 a0007c0057t0004 a0014c0114t0004 a0001c0069t0002 a0007c0057t0004 a0014c0114t0004	a0001c0069t0002g0204 a0007c0057t0004g0207 a0014c0114t0004g0010 a0001c0069t0002g0204 a0007c0057t0004g0207 a0014c0114t0004g0010	3	221	0.0136	-40	c.653 others(55): Show c.653+213_653+252delTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140271	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0028 a0028	a0028c0076 a0028c0076	a0028c0076t0010 a0028c0076t0010	a0028c0076t0010g0265 a0028c0076t0010g0265	1	136	0.0074	-40	c.653 others(55): Show c.653+254_653+293delTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210188	CGTGTGTA others(33): Show CGTGTGTATATGTATATATGTATATATACACACATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0081 a0003c0081	a0003c0081t0002 a0003c0081t0002	a0003c0081t0002g0230 a0003c0081t0002g0230	1	229	0.0044	-40	c.324 others(57): Show c.3249+836_3249+875delGTGTGTATATGTATATATGTATATATAC ACACATGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACAD10_chr12_111681053_111762099	111724005	CGCTCCTC others(33): Show CGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	334	0.0240	-40	c.106 others(59): Show c.1061+2326_1061+2365delTGATGGCGGCCGGGAAGAGGTGCTCC TCACTTCCTAGATG	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288567	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18999.hp2 NA19087.hp1 others(1): Show HG02074.hp1 NA18999.hp2 NA19087.hp1 NA19088.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0001c0001t0014 a0008c0009t0003 a0001c0001t0002 a0001c0001t0014 a0008c0009t0003	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0014g0214 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0014g0214 a0008c0009t0003g0124	4	198	0.0202	-40	c.49 others(51): Show c.4957_*4996delGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3823		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288601	TCCGTCCC others(33): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 NA19083.hp2 HG02897.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0002g0153 a0003c0004t0001g0204 a0001c0001t0002g0153 a0003c0004t0001g0204	2	243	0.0082	-40	c.49 others(51): Show c.4923_*4962delGGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3789		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288778	TGTCTCTG others(33): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 NA19079.hp1 NA19083.hp2 HG01516.hp2 NA19079.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0100 a0001c0001t0002g0153 a0001c0003t0002g0119 a0001c0001t0001g0100 a0001c0001t0002g0153 a0001c0003t0002g0119	3	292	0.0103	-40	c.47 others(51): Show c.4746_*4785delTCGGGGGACGGAACAGGGACACGGGGGACGGAGC AGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3612		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288799	GTCCCTGT others(33): Show GTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	293	0.0034	-40	c.47 others(51): Show c.4725_*4764delGACACGGGACGGAGCAGAGACTCGGGGGACGGAA CAGGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3591		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288908	TGTCTCTG others(33): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03516.hp2 NA19077.hp2 HG03471.hp1 HG03516.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0025 a0001c0001t0002g0152 a0001c0001t0005g0157 a0001c0001t0001g0025 a0001c0001t0002g0152 a0001c0001t0005g0157	3	291	0.0103	-40	c.46 others(51): Show c.4616_*4655delTCGGGGGACGGAACAGGGACACGGGGGACGGAGC AGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3482		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289033	TCCCCCGA others(33): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	227	0.0044	-40	c.44 others(51): Show c.4491_*4530delGGACGGAGCAGAGACACGGGACGGAGCAGAGACT CGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3357		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289062	TCTGCTCC others(33): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	277	0.0036	-40	c.44 others(51): Show c.4462_*4501delGGACACGGGGGACGGAGCAGAGACTCGGGGGACG GAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3328		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289707	TCCCGTGT others(33): Show TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG04228.hp1 HG02897.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0010 a0003c0004t0001 a0001c0001t0010 a0003c0004t0001	a0001c0001t0010g0147 a0003c0004t0001g0204 a0001c0001t0010g0147 a0003c0004t0001g0204	2	264	0.0076	-40	c.38 others(51): Show c.3817_*3856delGGACGGAGCAGAGACACGGGGGACGGAGCAGGGA CACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2683		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297665	GCGGGGCA others(33): Show GCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGCACGGGCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02572.hp2 others(7): Show HG01109.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0006 a0001c0001t0001 a0001c0024t0006	a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0024t0006g0070	10	294	0.0340	-40	c.112 others(62): Show c.1128+117_1128+157delTGCCCGTGCACACGTGCCACCGGGGATG GCCCCTGCCCCGCinsA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar

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