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
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	62	0.0484	25	c.26 others(36): Show c.2641_*2642insAAAAAAAAAAAAAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKT3_chr1_243494724_243855243	243525801	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	299	0.0033	25	c.125 others(46): Show c.1252-13376_1252-13375insCTTCTTTCTTTCTTTCTTTCTTTC T	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686652	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01952.hp2 HG02896.hp2 others(1): Show HG00280.hp1 HG01952.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0222 a0001c0001t0007g0267 a0001c0001t0007g0272 others(1): Show a0001c0001t0001g0222 a0001c0001t0007g0267 a0001c0001t0007g0272 a0001c0001t0007g0273	4	213	0.0188	25	c.172 others(42): Show c.172+8938_172+8939insTATATATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243798133	C C	CGGCCTCC others(18): Show CGGCCTCCCAAAGTGCTGGGATTACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02257.hp2 HG02622.hp2 HG00621.hp1 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0123 a0001c0001t0005g0288 a0001c0001t0005g0291 a0001c0001t0001g0123 a0001c0001t0005g0288 a0001c0001t0005g0291	3	299	0.0100	25	c.46+ others(42): Show c.46+44967_46+44991dupTGTAATCCCAGCACTTTGGGAGGCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18993.hp2 NA19000.hp1 NA18943.hp2 NA18993.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0138 a0001c0002t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0138 a0001c0002t0001g0035	3	349	0.0086	25	c.73+ others(38): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105036095	A A	ATACATAT others(18): Show ATACATATATTTATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0264 a0001c0001t0014g0264	1	384	0.0026	25	c.214 others(44): Show c.2146-1698_2146-1697insATATATACATATATAAATATATGTA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105069295	C C	CTGTGAAG others(18): Show CTGTGAAGGACAGAATGTGAAACTAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0308 a0003c0005t0003g0308	1	384	0.0026	25	c.429 others(40): Show c.429-436_429-412dupTTAGTTTCACATTCTGTCCTTCACA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	3/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18957.hp1 NA18948.hp2 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0002 a0001c0001t0006 a0002c0004t0002	a0001c0001t0006g0148 a0002c0004t0002g0227 a0001c0001t0006g0148 a0002c0004t0002g0227	2	184	0.0109	25	c.194 others(40): Show c.194-839_194-838insATATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	183	0.0055	25	c.194 others(40): Show c.194-839_194-838insAAATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01346.hp2 HG03098.hp2 others(1): Show HG00408.hp1 HG01346.hp2 HG03098.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0090 a0001c0001t0006g0336 a0001c0002t0002g0171 others(1): Show a0001c0001t0001g0090 a0001c0001t0006g0336 a0001c0002t0002g0171 a0001c0002t0002g0223	4	186	0.0215	25	c.194 others(40): Show c.194-839_194-838insAAAAATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	183	0.0055	25	c.194 others(40): Show c.194-839_194-838insAAAAAAAAAAATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH3B1_chr11_68005327_68034276	68030111	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0015 a0001c0002t0003g0015	1	280	0.0036	25	c.21 others(36): Show c.2172_*2173insAAAAAAAAAAAAAAAAAAAAAAAAA	ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding		836		chr11	TogoVar
ALDH9A1_chr1_165657216_165703562	165699013	A A	ATGATATT others(18): Show ATGATATTGTGATCTGAAACTGCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	330	0.0030	25	c.-45 others(34): Show c.-456_-455insAAAGCAGTTTCAGATCACAATATCA	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding		452		chr1	TogoVar
ALG8_chr11_78095946_78144626	78130361	A A	AAAAAAAA others(18): Show AAAAAAAAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG06807.hp1 HG02055.hp2 HG02145.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0106 a0001c0001t0001g0237 a0001c0001t0001g0241	3	292	0.0103	25	c.96- others(40): Show c.96-2926_96-2925insCTTTCTTTTCTTTTCTTTTTTTTTT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03669.hp1 NA18978.hp2 HG02922.hp2 HG03669.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0016g0127 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0016g0127	3	12	0.2500	25	c.895 others(42): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH5_chr17_18178828_18214954	18201786	G G	GATAGGTA others(18): Show GATAGGTAGATAGATAGGATAGATAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG01099.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0130 a0001c0001t0008g0021 a0001c0001t0002g0130 a0001c0001t0008g0021	4	372	0.0108	25	c.852 others(42): Show c.852-5029_852-5028insATAGGTAGATAGATAGGATAGATAA	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3			chr17	TogoVar
ALK_chr2_29187774_29926586	29802426	G G	GGGCAGGG others(18): Show GGGCAGGGGAGGGGAGGGCAGGGGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG00738.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0030 a0002c0001 a0002c0030	a0002c0001t0001 a0002c0030t0001 a0002c0001t0001 a0002c0030t0001	a0002c0001t0001g0062 a0002c0030t0001g0060 a0002c0001t0001g0062 a0002c0030t0001g0060	2	80	0.0250	25	c.668 others(44): Show c.668-84730_668-84729insTTCCCCTGCCCTCCCCTCCCCTGCC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29802537	A A	AGGAGGGG others(18): Show AGGAGGGGAGAGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0037	1	78	0.0128	25	c.668 others(44): Show c.668-84841_668-84840insCCTCCCCTCCCCTCCTCTCCCCTCC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(18): Show CCCTCCCCCTCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01515.hp2 others(11): Show HG00280.hp2 HG00639.hp1 HG01515.hp2 HG02015.hp2 HG02040.hp2 HG02647.hp2 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG04199.hp2 HG04228.hp1 NA18983.hp1 NA19065.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0054 a0002c0002t0001g0071 a0002c0002t0001g0085 others(9): Show a0002c0002t0001g0054 a0002c0002t0001g0071 a0002c0002t0001g0085 a0002c0002t0001g0096 a0002c0002t0002g0004 a0002c0002t0002g0019 a0002c0002t0002g0121 a0002c0002t0002g0139 a0002c0002t0002g0155 a0002c0002t0002g0186 a0002c0002t0002g0212 a0002c0002t0002g0213	14	239	0.0586	25	c.512 others(42): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCTCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690317	T T	TCCCCCCT others(18): Show TCCCCCCTCCCCTCCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	256	0.0039	25	c.512 others(42): Show c.512-5394_512-5370dupCTCCCCTCCCCCCTCCCCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690341	T T	TCCCCCCT others(18): Show TCCCCCCTCCCCTCCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	244	0.0041	25	c.512 others(42): Show c.512-5360_512-5359insCCTCCCCTCCCCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA18982.hp2 NA19090.hp2 HG00423.hp2 NA18982.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0003 a0002c0002t0011g0089 a0002c0002t0002g0003 a0002c0002t0011g0089	3	71	0.0423	25	c.71 others(34): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 NA19070.hp2 HG00140.hp2 NA19070.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0014c0024 a0002c0002 a0014c0024	a0002c0002t0002 a0014c0024t0004 a0002c0002t0002 a0014c0024t0004	a0002c0002t0002g0002 a0014c0024t0004g0001 a0002c0002t0002g0002 a0014c0024t0004g0001	2	27	0.0741	25	c.17 others(36): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALPI_chr2_232451153_232465753	232465431	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	175	0.0057	25	c.62 others(36): Show c.6285_*6286insTTTTATTTTATTTTATTTTATTTTA	ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding		4679		chr2	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG00733.hp1 HG00738.hp2	a0016 a0030 a0016 a0030	a0016c0050 a0030c0066 a0016c0050 a0030c0066	a0016c0050t0006 a0030c0066t0001 a0016c0050t0006 a0030c0066t0001	a0016c0050t0006g0080 a0030c0066t0001g0273 a0016c0050t0006g0080 a0030c0066t0001g0273	2	26	0.0769	25	c.196 others(46): Show c.1962+14690_1962+14691insAAAAAAAAAAAAAAAAAAAAAAAA A	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK3_chr15_84812356_84878479	84847208	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0005 a0007c0026t0005	a0007c0026t0005g0018 a0007c0026t0005g0018	1	58	0.0172	25	c.165 others(44): Show c.1653+6276_1653+6277insAGAGAGAGAGAGAGAGAGAGAGAGA	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13			chr15	TogoVar
ALPL_chr1_21504423_21583410	21524192	C C	CGGGGTTT others(18): Show CGGGGTTTCACCATGTTGCTCAGGCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0170 a0001c0001t0009g0170	1	368	0.0027	25	c.-10 others(46): Show c.-105+14678_-105+14702dupGGTTTCACCATGTTGCTCAGGCTG G	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(18): Show GTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01074.hp2 others(12): Show HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01346.hp2 HG01981.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG03209.hp1 HG03471.hp1 HG03710.hp2 HG06807.hp2 NA18906.hp2 NA18970.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0005 a0002c0002t0003 a0002c0002t0005 a0004c0006t0004	a0001c0001t0002g0198 a0001c0001t0002g0360 a0001c0001t0002g0361 others(12): Show a0001c0001t0002g0198 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0004g0018 a0001c0001t0006g0363 a0001c0003t0005g0117 a0001c0003t0005g0186 a0002c0002t0003g0112 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0005g0132 a0002c0002t0005g0157 a0002c0002t0005g0274 a0004c0006t0004g0144	15	58	0.2586	25	c.-10 others(46): Show c.-105+17505_-105+17529dupTCTTTTCTTTTCTTTTCTTTTCTT T	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALX3_chr1_110054870_110075672	110062610	T T	TGTGTGTG others(18): Show TGTGTGTGTGTCACAACAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	419	0.0024	25	c.595 others(42): Show c.595-1048_595-1047insCTTTCTTCTGTTGTGACACACACAC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
AMBRA1_chr11_46391414_46599023	46420021	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0056 a0005c0007t0001g0056	1	158	0.0063	25	c.297 others(44): Show c.2977-1970_2977-1969insTGTGTGTGTGTGTGTGTGTGTGTGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95954573	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 NA18939.hp2 others(1): Show HG01884.hp2 HG02109.hp1 NA18939.hp2 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0006 a0001c0002 a0002c0003 a0004c0006	a0001c0002t0003 a0002c0003t0009 a0004c0006t0002 a0001c0002t0003 a0002c0003t0009 a0004c0006t0002	a0001c0002t0003g0252 a0002c0003t0009g0081 a0004c0006t0002g0216 others(1): Show a0001c0002t0003g0252 a0002c0003t0009g0081 a0004c0006t0002g0216 a0004c0006t0002g0219	4	330	0.0121	25	c.245 others(40): Show c.245-324_245-300dupTAAAATAAAATAAAATAAAATAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95964928	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0078 a0002c0003t0015g0078	1	65	0.0154	25	c.939 others(40): Show c.939-735_939-734insAAAAAAAAAAAAAAAAAAAAAAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01934.hp1 HG02071.hp1 others(6): Show HG01123.hp2 HG01934.hp1 HG02071.hp1 NA18955.hp2 NA18960.hp1 NA18968.hp1 NA18990.hp1 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0069	9	21	0.4286	25	c.38 others(36): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMER2_chr13_25156679_25177288	25174782	T T	TTCCCTTT others(18): Show TTCCCTTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0000 a0001c0001t0065g0000	1	310	0.0032	25	c.-31 others(36): Show c.-3164_-3163insGGAAGGAAGGAAGGAAGGAAAGGGA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2495		chr13	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG03927.hp1 HG02257.hp1 HG02818.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0009 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0005g0009 a0001c0001t0006g0030 a0001c0001t0006g0031	3	89	0.0337	25	c.667 others(42): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56425452	G G	GCTGCCGC others(18): Show GCTGCCGCTGCCGCTGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18979.hp1 NA18981.hp2 NA18983.hp1 others(3): Show NA18979.hp1 NA18981.hp2 NA18983.hp1 NA19081.hp1 NA19082.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0056 a0001c0001t0057 a0001c0001t0017 a0001c0001t0056 a0001c0001t0057	a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 others(3): Show a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 a0001c0001t0017g0354 a0001c0001t0056g0351 a0001c0001t0057g0355	6	354	0.0169	25	c.-12 others(34): Show c.-126_-125insGCGGCGGCGGCAGCGGCAGCGGCAG	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14	126		chr16	TogoVar
AMN_chr14_102917663_102935842	102928682	C C	CGCGTGGC others(18): Show CGCGTGGCGTGGCGTGGCGTGGCGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	444	0.0023	25	c.296 others(38): Show c.296-74_296-50dupCGTGGCGTGGCGTGGCGTGGCGTGG	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
AMOT_chrX_112769877_112845831	112792959	C C	CTCTTTAA others(18): Show CTCTTTAAAGAAGATATATATCTTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(19): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG01081.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02132.hp1 HG02165.hp2 HG02622.hp2 HG02818.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp2 NA18941.hp1 NA18956.hp1 NA18995.hp1 NA19012.hp1 NA19067.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0001c0002t0002 a0005c0009t0001	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 others(19): Show a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0177 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0004g0027 a0001c0001t0004g0034 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0175 a0001c0001t0028g0248 a0001c0002t0002g0208 a0005c0009t0001g0253	22	240	0.0917	25	c.177 others(43): Show c.1777-1003_1777-979dupAGAAGATATATATCTTCTTTAAAGA	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	8/13			chrX	TogoVar
AMPD1_chr1_114668098_114700546	114670766	G G	GCCCCGCC others(18): Show GCCCCGCCCCACCCCACCCCACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0198 a0001c0001t0001g0203	2	356	0.0056	25	c.23 others(36): Show c.2347_*2348insTGGGGTGGGGTGGGGTGGGGCGGGG	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding		2331		chr1	TogoVar
AMPD2_chr1_109614837_109637051	109615620	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG03491.hp1 HG03492.hp2 others(1): Show HG01258.hp2 HG03491.hp1 HG03492.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	31	0.1290	25	c.-49 others(36): Show c.-4921_-4920insAAAAGAAAAGAAAAGAAAAGAAAAG	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding		4216		chr1	TogoVar
AMPD3_chr11_10450264_10512579	10460040	A A	AAATATAT others(18): Show AAATATATATTATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	354	0.0028	25	c.-5- others(40): Show c.-5-1474_-5-1450dupAATATATATTATATATAATATATAT	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10485765	T T	TTGCTCAT others(18): Show TTGCTCATGGGCATGGTGCACCATGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01071.hp2 others(3): Show HG00323.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG02602.hp2 HG03831.hp2	a0003 a0003	a0003c0008 a0003c0009 a0003c0008 a0003c0009	a0003c0008t0009 a0003c0008t0019 a0003c0009t0005 others(1): Show a0003c0008t0009 a0003c0008t0019 a0003c0009t0005 a0003c0009t0009	a0003c0008t0009g0197 a0003c0008t0009g0198 a0003c0008t0019g0167 others(3): Show a0003c0008t0009g0197 a0003c0008t0009g0198 a0003c0008t0019g0167 a0003c0009t0005g0196 a0003c0009t0005g0203 a0003c0009t0009g0191	6	388	0.0155	25	c.809 others(40): Show c.809+732_809+756dupATGGGCATGGTGCACCATGATGCTC	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	118	0.0085	25	c.139 others(46): Show c.1398+10803_1398+10804insAGAGAGAGAGAGAGAGAGAGAGAG A	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38441844	T T	TATATATC others(18): Show TATATATCATATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA18983.hp1 others(3): Show HG01257.hp2 HG01258.hp2 NA18983.hp1 NA18999.hp1 NA19002.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0002t0002g0103 others(3): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0002t0002g0103 a0001c0002t0002g0129 a0001c0002t0002g0207 a0001c0002t0002g0220	6	286	0.0210	25	c.101 others(44): Show c.1018-5481_1018-5457dupGATATATATGATATATATGATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145011336	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01123.hp2 others(13): Show HG00099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01358.hp1 HG01934.hp1 HG01975.hp1 HG02293.hp1 HG02523.hp1 HG02809.hp2 HG04199.hp2 NA18987.hp1 NA19009.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0126 a0001c0001t0001g0274 a0001c0001t0001g0279 others(13): Show a0001c0001t0001g0126 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0011g0299	16	158	0.1013	25	c.328 others(44): Show c.328-15758_328-15734dupATTTTATTTTATTTTATTTTATTTT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145058418	T T	TATTGTGT others(18): Show TATTGTGTTTTTAAACACAATATTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG06807.hp2 HG02818.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	334	0.0060	25	c.327 others(42): Show c.327+6153_327+6154insGGAATATTGTGTTTAAAAACACAAT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC1_chr2_111762640_111889193	111771773	A A	ATCAAAAA others(18): Show ATCAAAAAATATTTTTTTTGAGAATC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0167 a0001c0004t0003g0167	1	368	0.0027	25	c.571 others(42): Show c.5719+543_5719+567dupGATTCTCAAAAAAAATATTTTTTGA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	47/47			chr2	TogoVar
ANAPC7_chr12_110367900_110408708	110382455	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	245	0.0041	25	c.935 others(40): Show c.935+387_935+388insATATATATATATATATATATATATA	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18970.hp1 HG01433.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	86	0.0233	25	c.148 others(42): Show c.1483+514_1483+515insATATATATATATATATATATATTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	G G	GTATTCCT others(18): Show GTATTCCTTATACTTATTTATAAGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02015.hp2 HG03710.hp1 others(2): Show HG01243.hp2 HG02015.hp2 HG03710.hp1 NA18940.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0016 a0001c0001t0002g0120 others(2): Show a0001c0001t0001g0009 a0001c0001t0002g0016 a0001c0001t0002g0120 a0001c0001t0002g0150 a0001c0001t0002g0271	5	10	0.5000	25	c.298 others(44): Show c.298-21378_298-21354dupTACTTATAAATAAGTATAAGGAATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar

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