Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MAP1LC3B2_chr12_116554381_116581606	116560224	A A	ATATATAT others(11): Show ATATATATGTATGTATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0271 a0005c0006t0010g0271	1	446	0.0022	18	c.-10 others(35): Show c.-102+798_-102+799insGTATGTATATGTATATAT		MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP1S_chr19_17714480_17739513	17738321	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 NA18991.hp2 NA18994.hp2 HG03688.hp2 NA18991.hp2 NA18994.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0009 a0003c0003 a0005c0009	a0003c0003t0001 a0005c0009t0001 a0003c0003t0001 a0005c0009t0001	a0003c0003t0001g0003 a0005c0009t0001g0077 a0003c0003t0001g0003 a0005c0009t0001g0077	3	290	0.0103	18	c.38 others(29): Show c.3893_*3894insAAAAAAAAAAAAAAAAAA		MAP1S	ENSG00000130479.11	transcript	ENST00000324096.9	protein_coding					3809		chr19	TogoVar
MAP2K1_chr15_66381912_66496544	66420706	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	372	0.0027	18	c.81- others(35): Show c.81-14305_81-14304insATATATATATATATATAT		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66432959	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01175.hp1 others(5): Show HG00423.hp2 HG00438.hp2 HG01175.hp1 HG02735.hp2 HG02970.hp2 NA18992.hp2 NA19007.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0110 a0001c0001t0001g0138 a0001c0001t0001g0293 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0138 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0003g0169 a0001c0001t0005g0159 a0001c0001t0005g0240 a0001c0001t0005g0243	8	372	0.0215	18	c.81- others(33): Show c.81-2043_81-2026dupGTGTGTGTGTGTGTGTGT		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469693	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp1 HG03704.hp1 HG02809.hp1 HG03209.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0276 a0001c0001t0001g0288 a0001c0001t0001g0250 a0001c0001t0001g0276 a0001c0001t0001g0288	3	372	0.0081	18	c.569 others(37): Show c.569-12048_569-12031dupCACACACACACACACACA		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469723	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG01175.hp1 others(5): Show HG00642.hp1 HG01168.hp2 HG01175.hp1 HG01261.hp1 HG03490.hp2 HG04204.hp2 NA18963.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0067 a0001c0001t0003g0169 a0001c0001t0003g0175 others(5): Show a0001c0001t0002g0067 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0197	8	372	0.0215	18	c.569 others(37): Show c.569-12031_569-12030insCACACACACACACACATA		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K4_chr17_12015877_12148828	12065258	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	322	0.0031	18	c.218 others(37): Show c.218+10284_218+10301dupATTATTATTATTATTATT		MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K4_chr17_12015877_12148828	12095895	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0008 a0001c0001t0001g0019	2	322	0.0062	18	c.513 others(33): Show c.513+217_513+234dupGTGTGTGTGTGTGTGTGT		MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K5_chr15_67537703_67812114	67547077	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp2 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0001g0207 a0001c0001t0001g0222	2	278	0.0072	18	c.136 others(35): Show c.136-2943_136-2926dupCACACACACACACACACA		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67575918	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19087.hp1 NA18951.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0135 a0001c0001t0002g0094 a0001c0001t0002g0135	2	278	0.0072	18	c.253 others(35): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590426	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	278	0.0036	18	c.432 others(35): Show c.432-2489_432-2488insTCTCTCTCTCTCTCTCTC		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590468	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02273.hp1 HG02965.hp2 others(5): Show HG00323.hp2 HG02273.hp1 HG02965.hp2 HG02976.hp1 HG04199.hp2 NA18522.hp1 NA18961.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0036 a0001c0001t0001g0163 a0001c0001t0001g0176 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0003g0030 a0001c0001t0003g0040 a0001c0001t0004g0252	8	278	0.0288	18	c.432 others(35): Show c.432-2450_432-2449insCTCTCTCTCACTCTCTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K6_chr17_69409697_69558865	69449531	G G	GTCTTTCT others(11): Show GTCTTTCTTTCTTTGTCTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19060.hp1 NA18612.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0123 a0001c0002t0001g0098 a0001c0002t0001g0123	2	260	0.0077	18	c.16+ others(35): Show c.16+34544_16+34545insGTCTTTCTTTCTTTCTTT		MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K6_chr17_69409697_69558865	69491730	G G	GTTATTAT others(11): Show GTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp1 HG01243.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0058 a0001c0001t0010g0016 a0001c0001t0004g0058 a0001c0001t0010g0016	2	260	0.0077	18	c.17- others(35): Show c.17-14041_17-14024dupATTATTATTATTATTATT		MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K6_chr17_69409697_69558865	69557707	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0067 a0001c0001t0059g0067	1	260	0.0039	18	c.15 others(31): Show c.15954_*15955insTTTTTTTTTTTTTTTTTT		MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding					3843		chr17	TogoVar
MAP2K7_chr19_7898877_7919478	7913043	G G	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0063 a0001c0001t0019g0063	1	434	0.0023	18	c.62 others(27): Show c.621_*638dupCTCTCTCTCTCTCTCTCT		MAP2K7	ENSG00000076984.18	transcript	ENST00000397979.4	protein_coding	11/11				639	INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP2_chr2_209419047_209739112	209573298	G G	GGTTTTTT others(11): Show GGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG03098.hp1 HG01891.hp1 HG02257.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0033 a0002c0005t0011 a0002c0005t0027 a0001c0001t0033 a0002c0005t0011 a0002c0005t0027	a0001c0001t0033g0007 a0002c0005t0011g0072 a0002c0005t0027g0070 a0001c0001t0033g0007 a0002c0005t0011g0072 a0002c0005t0027g0070	3	148	0.0203	18	c.-17 others(37): Show c.-171-6738_-171-6737insGTTTTTTTTTTTTTTTTT		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	2/15						chr2	TogoVar
MAP2_chr2_209419047_209739112	209574432	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG01891.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0006 a0002c0005t0027 a0001c0003t0006 a0002c0005t0027	a0001c0003t0006g0023 a0002c0005t0027g0070 a0001c0003t0006g0023 a0002c0005t0027g0070	2	148	0.0135	18	c.-17 others(37): Show c.-171-5592_-171-5575dupCACACACACACACACACA		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP2_chr2_209419047_209739112	209733460	C C	CCACACAC others(11): Show CCACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 HG02280.hp2 HG02572.hp2 others(3): Show HG01975.hp2 HG02280.hp2 HG02572.hp2 HG03139.hp1 NA18983.hp2 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0012 a0002c0002t0015 a0002c0002t0028 others(1): Show a0002c0002t0012 a0002c0002t0015 a0002c0002t0028 a0002c0010t0015	a0002c0002t0012g0034 a0002c0002t0012g0038 a0002c0002t0012g0043 others(3): Show a0002c0002t0012g0034 a0002c0002t0012g0038 a0002c0002t0012g0043 a0002c0002t0015g0066 a0002c0002t0028g0067 a0002c0010t0015g0065	6	148	0.0405	18	c.30 others(29): Show c.3079_*3096dupACACACACACACACACAC		MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	16/16				3097	INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K12_chr12_53474669_53504458	53479668	C C	CTGGTTTT others(11): Show CTGGTTTTTTTTTTTTTTT	splice_region_variant splice_region_variant	LOW	HG00438.hp1 HG00738.hp1 HG01175.hp2 others(13): Show HG00438.hp1 HG00738.hp1 HG01175.hp2 HG01256.hp1 HG02602.hp1 HG02735.hp2 HG03654.hp1 HG04115.hp1 NA18522.hp1 NA18971.hp2 NA18991.hp2 NA19007.hp1 NA19011.hp2 NA19062.hp2 NA19065.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0003 a0001c0001t0003 a0001c0004t0003	a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0042 others(12): Show a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0277 a0001c0001t0003g0294 a0001c0004t0003g0067	16	328	0.0488	18	c.15 others(29): Show c.1513_*1514insAAAAAAAAAAAAAAACCA		MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	14/14						chr12	TogoVar
MAP3K12_chr12_53474669_53504458	53479671	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG03942.hp1 others(3): Show HG01175.hp1 HG01358.hp2 HG03942.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0023 a0001c0001t0007 a0001c0001t0023	a0001c0001t0007g0016 a0001c0001t0007g0066 a0001c0001t0007g0109 others(2): Show a0001c0001t0007g0016 a0001c0001t0007g0066 a0001c0001t0007g0109 a0001c0001t0007g0265 a0001c0001t0023g0191	6	328	0.0183	18	c.15 others(29): Show c.1510_*1511insACCAAAAAAAAAAAAAAA		MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	14/14				1510		chr12	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	328	0.0031	18	c.-38 others(33): Show c.-38+501_-38+518dupCACACACACACACACACA		MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13						chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185362930	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18983.hp2 NA18994.hp1 others(1): Show NA18954.hp1 NA18983.hp2 NA18994.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0089 a0001c0001t0003g0090 a0001c0001t0003g0102 others(1): Show a0001c0001t0001g0089 a0001c0001t0003g0090 a0001c0001t0003g0102 a0001c0001t0014g0045	4	278	0.0144	18	c.-52 others(27): Show c.-524_-523insACACACACACACACACAC		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding					205		chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185384308	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19057.hp2 NA18973.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0006 a0001c0001t0006g0008	2	278	0.0072	18	c.-86 others(37): Show c.-86+20953_-86+20970dupTGTGTGTGTGTGTGTGTG		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455491	T T	TATATATG others(11): Show TATATATGAGATATATATG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0044 a0001c0015t0032g0044	1	278	0.0036	18	c.127 others(37): Show c.1278+4101_1278+4102insTGAGATATATATGATATA		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(11): Show AGAGAGGGAGGGAGGGATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	163	0.0061	18	c.525 others(35): Show c.525+8507_525+8508insCATCCCTCCCTCCCTCTC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MAP3K19_chr2_134959491_135052447	134997817	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02257.hp2 HG03041.hp2 others(1): Show HG02071.hp2 HG02257.hp2 HG03041.hp2 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0003 a0001c0002t0001 a0003c0004t0003	a0001c0002t0001g0073 a0001c0002t0001g0103 a0001c0002t0001g0231 others(1): Show a0001c0002t0001g0073 a0001c0002t0001g0103 a0001c0002t0001g0231 a0003c0004t0003g0200	4	334	0.0120	18	c.574 others(33): Show c.574+920_574+921insTTTTTTTTTTTTTTTTTT		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	8/12						chr2	TogoVar
MAP3K19_chr2_134959491_135052447	135048369	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01978.hp1 others(4): Show HG00639.hp1 HG00735.hp2 HG01978.hp1 HG02083.hp2 HG02109.hp1 HG03239.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0018t0001 a0002c0003t0001	a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0108 a0001c0002t0001g0121 a0001c0018t0001g0143 a0002c0003t0001g0123 a0002c0003t0001g0126	7	334	0.0210	18	c.-16 others(29): Show c.-1609_-1608insAGAGAGAGAGAGAGAGAG		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding					923		chr2	TogoVar
MAP3K19_chr2_134959491_135052447	135048373	A A	ACACTCTC others(11): Show ACACTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0130 a0001c0009t0004g0130	1	334	0.0030	18	c.-16 others(29): Show c.-1613_-1612insAGAGAGAGAGAGAGAGTG		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding					927		chr2	TogoVar
MAP3K19_chr2_134959491_135052447	135048373	A A	ACTCACTC others(11): Show ACTCACTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	334	0.0030	18	c.-16 others(29): Show c.-1613_-1612insAGAGAGAGAGAGAGTGAG		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding					927		chr2	TogoVar
MAP3K19_chr2_134959491_135052447	135048373	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0005 a0023c0033t0005	a0023c0033t0005g0147 a0023c0033t0005g0147	1	334	0.0030	18	c.-16 others(29): Show c.-1613_-1612insAGAGAGAGAGAGAGAGAG		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding					927		chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0151 a0003c0005t0005g0151	1	334	0.0030	18	c.160 others(37): Show c.160-35376_160-35375insATATATATATATATATTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0009 a0004c0010t0009	a0004c0010t0009g0020 a0004c0010t0009g0020	1	334	0.0030	18	c.160 others(37): Show c.160-35376_160-35375insATATATATATATATTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	334	0.0030	18	c.160 others(37): Show c.160-35376_160-35375insATATATATATTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03654.hp1 NA18982.hp2 HG00738.hp1 HG03654.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0188 a0002c0003t0003g0185 a0002c0003t0003g0206 a0001c0001t0002g0188 a0002c0003t0003g0185 a0002c0003t0003g0206	3	334	0.0090	18	c.160 others(37): Show c.160-35376_160-35375insATATATATTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0222 a0002c0003t0003g0222	1	334	0.0030	18	c.160 others(37): Show c.160-35376_160-35375insATATATTTTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03139.hp2 HG00558.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0014 a0002c0003t0003 a0001c0004t0014 a0002c0003t0003	a0001c0004t0014g0073 a0002c0003t0003g0241 a0001c0004t0014g0073 a0002c0003t0003g0241	2	334	0.0060	18	c.160 others(37): Show c.160-35376_160-35375insATATTTTTTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03486.hp1 HG02300.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0002 a0002c0003t0003 a0001c0004t0002 a0002c0003t0003	a0001c0004t0002g0245 a0002c0003t0003g0193 a0001c0004t0002g0245 a0002c0003t0003g0193	2	334	0.0060	18	c.160 others(37): Show c.160-35376_160-35375insATTTTTTTTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	334	0.0030	18	c.160 others(37): Show c.160-35375_160-35358dupTTTTTTTTTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127384213	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0096 a0001c0001t0058g0096	1	320	0.0031	18	c.-66 others(35): Show c.-66+3221_-66+3238dupATATATATATATATATAT		MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16						chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127387396	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0188 a0001c0002t0009g0188	1	320	0.0031	18	c.-66 others(31): Show c.-66+55_-66+56insTGTGTGTGTGTGTGTGTG		MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16						chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127387398	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0070 a0001c0003t0070	a0001c0003t0070g0200 a0001c0003t0070g0200	1	320	0.0031	18	c.-66 others(31): Show c.-66+53_-66+54insTGTGTGTGTGTGTGTGCG		MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16						chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127387398	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00639.hp2 others(13): Show HG00408.hp2 HG00438.hp2 HG00639.hp2 HG01358.hp2 HG01516.hp2 HG03492.hp2 NA18962.hp2 NA18973.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042 a0001c0001t0045 a0001c0001t0065	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0005g0246 others(13): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0006g0163 a0001c0001t0010g0250 a0001c0001t0011g0026 a0001c0001t0030g0245 a0001c0001t0035g0023 a0001c0001t0037g0024 a0001c0001t0042g0020 a0001c0001t0045g0025 a0001c0001t0065g0164	16	320	0.0500	18	c.-66 others(31): Show c.-66+53_-66+54insTGTGTGTGTGTGTGCGCG		MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16						chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127387398	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01192.hp1 others(14): Show HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01433.hp1 HG02293.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02897.hp1 HG03225.hp2 HG03239.hp1 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 others(6): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 a0001c0002t0004 a0001c0002t0007 a0001c0002t0028 a0001c0002t0050 a0001c0002t0051 a0001c0002t0053	a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 others(14): Show a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0017g0113 a0001c0001t0017g0119 a0001c0001t0021g0114 a0001c0001t0021g0116 a0001c0002t0004g0124 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0007g0120 a0001c0002t0007g0125 a0001c0002t0007g0126 a0001c0002t0028g0127 a0001c0002t0050g0121 a0001c0002t0051g0122 a0001c0002t0053g0123	17	320	0.0531	18	c.-66 others(31): Show c.-66+53_-66+54insTGTGTGTGTGTGCGCGCG		MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16						chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127387398	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01891.hp1 HG01943.hp1 others(6): Show HG01169.hp1 HG01891.hp1 HG01943.hp1 HG02809.hp1 HG03942.hp1 NA18957.hp1 NA18972.hp2 NA18980.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0074 a0001c0002t0007	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0081 others(6): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0020g0080 a0001c0001t0074g0214 a0001c0002t0007g0085	9	320	0.0281	18	c.-66 others(31): Show c.-66+53_-66+54insTGTGTGTGTGCGCGCGCG		MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16						chr2	TogoVar
MAP3K3_chr17_63617417_63701305	63618931	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	180	0.0056	18	c.-38 others(29): Show c.-3829_-3828insGTGTGTGTGTGTGTGTGT		MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding					3485		chr17	TogoVar
MAP3K3_chr17_63617417_63701305	63650658	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	180	0.0056	18	c.168 others(35): Show c.168-1878_168-1861dupAGAGAGAGAGAGAGAGAG		MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K4_chr6_160986769_161122380	160992037	C C	CCGGAACC others(11): Show CCGGAACCCGAGACCGAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0127 a0014c0021t0001g0127	1	342	0.0029	18	c.108 others(25): Show c.108_125dupGGAACCCGAGACCGAGTC	p.Ser others(29): Show p.Ser42_Glu43insGluProGluThrGluSer	MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	1/27	289/5500	126/4827	42/1608		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP3K4_chr6_160986769_161122380	161041912	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	342	0.0029	18	c.344 others(35): Show c.344-6691_344-6690insTTTTTTTTTTTTTTTTTT		MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP3K4_chr6_160986769_161122380	161047117	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp1 HG03579.hp2 others(1): Show HG03225.hp1 HG03471.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0029 a0001c0001t0002g0030 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0047	4	342	0.0117	18	c.344 others(35): Show c.344-1488_344-1471dupATATATATATATATATAT		MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr6	TogoVar

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