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
MAGI2_chr7_78012055_79458667	79136003	G G	GAAAGAGA others(33): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	28	0.0357	40	c.302 others(61): Show c.302-128798_302-128797insTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGT1_chrX_77820747_77900435	77830970	T T	TTTTTATT others(33): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	74	0.0135	40	c.902 others(54): Show c.902-115_902-76dupTAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAA	MAGT1	ENSG00000102158.22	transcript	ENST00000618282.5	protein_coding	8/9			chrX	TogoVar
MALRD1_chr10_19043801_19739478	19165242	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18965.hp2 HG00544.hp2 NA18965.hp2	a0007 a0008 a0007 a0008	a0007c0058 a0008c0110 a0007c0058 a0008c0110	a0007c0058t0001 a0008c0110t0001 a0007c0058t0001 a0008c0110t0001	a0007c0058t0001g0111 a0008c0110t0001g0100 a0007c0058t0001g0111 a0008c0110t0001g0100	2	55	0.0364	40	c.165 others(57): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT ATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19175463	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0070 a0003c0001t0002g0070	1	120	0.0083	40	c.195 others(57): Show c.1951+136_1951+137insAATATATATATATATATATATATATATA TATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG03225.hp1 HG00597.hp2 HG01175.hp2 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 a0001c0001 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0006t0001 a0003c0004t0003 a0001c0001t0001 a0001c0006t0001 a0003c0004t0003	a0001c0001t0001g0306 a0001c0006t0001g0240 a0003c0004t0003g0172 a0001c0001t0001g0306 a0001c0006t0001g0240 a0003c0004t0003g0172	3	19	0.1579	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	17	0.0588	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02083.hp2 HG03098.hp2 others(2): Show HG01071.hp1 HG02083.hp2 HG03098.hp2 HG03540.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 a0001c0001 a0001c0006 a0001c0016	a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 a0001c0001t0001 a0001c0006t0001 a0001c0016t0001	a0001c0001t0001g0045 a0001c0001t0001g0260 a0001c0001t0001g0307 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0260 a0001c0001t0001g0307 a0001c0006t0001g0244 a0001c0016t0001g0309	5	21	0.2381	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02145.hp1 HG02886.hp2 others(1): Show HG02071.hp1 HG02145.hp1 HG02886.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0216 a0001c0001t0001g0222 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0243	4	20	0.2000	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	17	0.0588	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	17	0.0588	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	17	0.0588	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATATATATATAGAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	17	0.0588	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATATATATATATAGA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0002 a0003c0028t0002	a0003c0028t0002g0155 a0003c0028t0002g0155	1	17	0.0588	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA GAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	17	0.0588	40	c.191 others(59): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TATATAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML3_chr4_139711753_140159184	140074203	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 NA19043.hp1 HG01891.hp1 HG02895.hp1 NA19043.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0007c0009 a0002c0003 a0007c0009	a0002c0003t0002 a0002c0003t0003 a0007c0009t0036 a0002c0003t0002 a0002c0003t0003 a0007c0009t0036	a0002c0003t0002g0071 a0002c0003t0003g0010 a0007c0009t0036g0110 a0002c0003t0002g0071 a0002c0003t0003g0010 a0007c0009t0036g0110	3	143	0.0210	40	c.468 others(59): Show c.468+78656_468+78657insCTTTCTTTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150404051	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01515.hp1 HG01978.hp2 others(1): Show HG00735.hp2 HG01515.hp1 HG01978.hp2 HG02622.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0004 a0004c0004t0003 a0001c0001t0002 a0001c0001t0004 a0004c0004t0003	a0001c0001t0002g0107 a0001c0001t0002g0158 a0001c0001t0004g0110 others(1): Show a0001c0001t0002g0107 a0001c0001t0002g0158 a0001c0001t0004g0110 a0004c0004t0003g0053	4	160	0.0250	40	c.-64 others(59): Show c.-64+40535_-64+40536insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117430627	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGCAGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02965.hp2 others(1): Show HG02109.hp1 HG02451.hp1 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0061 a0001c0002t0022 a0001c0002t0061	a0001c0002t0022g0042 a0001c0002t0022g0045 a0001c0002t0022g0056 others(1): Show a0001c0002t0022g0042 a0001c0002t0022g0045 a0001c0002t0022g0056 a0001c0002t0061g0046	4	368	0.0109	40	c.855 others(59): Show c.855+10012_855+10013insCAGAGGCGCTCCTCACTTCCTAGATG TGATGGCGGCTGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109708509	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	62	0.0161	40	c.136 others(57): Show c.136-4974_136-4973insCACACACACACACACACACACACACACA CACACACACACA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP2K1_chr15_66381912_66496544	66420715	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	354	0.0028	40	c.81- others(57): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATGTATATAT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420717	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	367	0.0027	40	c.81- others(57): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATGTATAT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	263	0.0038	40	c.81- others(57): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATATGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	263	0.0038	40	c.81- others(57): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATGTATATATGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	263	0.0038	40	c.81- others(57): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT GTGTGTGTGTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	263	0.0038	40	c.81- others(57): Show c.81-14305_81-14304insATATATATATATATATATATATATGTGT GTGTGTGTGTGT	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(33): Show GACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01346.hp1 others(4): Show HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01943.hp1 HG02257.hp1 HG02615.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0137 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0338	7	195	0.0359	40	c.569 others(59): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACA	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(33): Show CACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG02071.hp1 others(8): Show HG00099.hp2 HG00597.hp2 HG02071.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02965.hp1 NA18981.hp2 NA18995.hp1 NA19010.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0213 a0001c0001t0002g0012 a0001c0001t0002g0059 others(8): Show a0001c0001t0001g0213 a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0148 a0001c0001t0005g0242	11	262	0.0420	40	c.569 others(59): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACATA	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(33): Show CACACACACACACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0160 a0001c0001t0005g0160	1	252	0.0040	40	c.569 others(59): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACATATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66478402	A A	ATATATAT others(33): Show ATATATATATATACACACAGGTATATATATATACACACAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG03579.hp1 HG02055.hp1 HG02809.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324	3	322	0.0093	40	c.569 others(57): Show c.569-3338_569-3299dupCACAGGTATATATATATACACACAGGTA TATATATATACA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K3_chr17_21279711_21320232	21291346	T T	TAGAATAC others(33): Show TAGAATACAATAGAATACAGTACAATACAATACAACACAAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18960.hp2 NA18962.hp1 others(6): Show NA18950.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA19068.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0177 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0053 a0001c0001t0003g0005	9	111	0.0811	40	c.49+ others(55): Show c.49+6378_49+6379insGAATACAATAGAATACAGTACAATACAATA CAACACAACA	MAP2K3	ENSG00000034152.20	transcript	ENST00000342679.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K6_chr17_69409697_69558865	69491108	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	227	0.0044	40	c.17- others(57): Show c.17-14661_17-14660insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K15_chrX_19355059_19520508	19514736	T T	TAGGGGGA others(33): Show TAGGGGGAGGGGAGGGGGACGAGGGGGAGGGGAGGGGGACG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 HG02145.hp1 HG03579.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0002 a0010c0016t0007 a0001c0001t0002 a0010c0016t0007	a0001c0001t0002g0134 a0010c0016t0007g0073 a0001c0001t0002g0134 a0010c0016t0007g0073	2	104	0.0192	40	c.361 others(55): Show c.361+125_361+164dupCGTCCCCCTCCCCTCCCCCTCGTCCCCCTC CCCTCCCCCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/28			chrX	TogoVar
MAP3K19_chr2_134959491_135052447	134968559	G G	GGCTGCCG others(33): Show GGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03195.hp1 NA18947.hp2 others(6): Show HG02080.hp1 HG03195.hp1 NA18947.hp2 NA18968.hp2 NA18992.hp1 NA19002.hp1 NA19079.hp2 NA19082.hp1 NA19086.hp1	a0003 a0004 a0021 others(1): Show a0003 a0004 a0021 a0025	a0003c0004 a0004c0006 a0021c0029 others(1): Show a0003c0004 a0004c0006 a0021c0029 a0025c0032	a0003c0004t0001 a0004c0006t0001 a0021c0029t0011 others(1): Show a0003c0004t0001 a0004c0006t0001 a0021c0029t0011 a0025c0032t0001	a0003c0004t0001g0226 a0004c0006t0001g0010 a0004c0006t0001g0049 others(6): Show a0003c0004t0001g0226 a0004c0006t0001g0010 a0004c0006t0001g0049 a0004c0006t0001g0074 a0004c0006t0001g0241 a0004c0006t0001g0250 a0004c0006t0001g0256 a0021c0029t0011g0037 a0025c0032t0001g0274	9	332	0.0271	40	c.392 others(59): Show c.3921-3644_3921-3643insTGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGCCCGGCAGC	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	12/12			chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0011 a0006c0015t0011	a0006c0015t0011g0245 a0006c0015t0011g0245	1	6	0.1667	40	c.160 others(59): Show c.160-35376_160-35375insATATATATATATATATATATATATAT TTTTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	6	0.1667	40	c.160 others(59): Show c.160-35376_160-35375insATATATATATATATATATATATATTT TTTTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	6	0.1667	40	c.160 others(59): Show c.160-35376_160-35375insATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K5_chr6_136552046_136797477	136737037	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0065 a0001c0004t0001g0065	1	71	0.0141	40	c.449 others(59): Show c.449-16449_449-16448insTATATATATATATATATATATATATA TATATATATATACA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136769793	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18980.hp1 HG01081.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0122 a0001c0003t0001g0114 a0001c0001t0004g0122 a0001c0003t0001g0114	2	50	0.0400	40	c.448 others(59): Show c.448+21916_448+21917insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCT	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136769793	A A	AAGGAAGG others(33): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	49	0.0204	40	c.448 others(59): Show c.448+21916_448+21917insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCT	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GGAGAGAG others(33): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	132	0.0076	40	c.-16 others(51): Show c.-1655_-1654insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP3K9_chr14_70717526_70814513	70798425	T T	TTTTCCAG others(33): Show TTTTCCAGCAATATATCTGCTTCTTTTTACCCCATCACTTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	144	0.0069	40	c.820 others(57): Show c.820+2241_820+2242insTAAGTGATGGGGTAAAAAGAAGCAGATA TATTGCTGGAAA	MAP3K9	ENSG00000006432.16	transcript	ENST00000554752.7	protein_coding	2/11			chr14	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp2 HG00280.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0113 a0001c0002t0001g0095 a0001c0002t0001g0113	2	54	0.0370	40	c.96+ others(57): Show c.96+20911_96+20912insATATATATATATATATATATATATATAT ATATATTTTTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K3_chr2_39244266_39442285	39440048	A A	AAAGCCCC others(33): Show AAAGCCCCCCCCCCCCCCCCCCCACCCCCCCCCAAAAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	230	0.0043	40	c.-30 others(51): Show c.-3062_-3061insGGGTTTTTGGGGGGGGGTGGGGGGGGGGGGGGGG GGGCTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding		2764		chr2	TogoVar
MAP7D2_chrX_20001713_20121907	20094494	A A	ATATATAT others(33): Show ATATATATATATATATGTATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	207	0.0048	40	c.130 others(59): Show c.130+22255_130+22256insCATATATATATATATATATATATACA TATATATATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAPRE2_chr18_35036413_35148470	35037722	A A	ACCGGAAA others(33): Show ACCGGAAATAGTCTTAAACTTGCTAGTTCACAGTATTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	368	0.0027	40	c.-38 others(51): Show c.-3818_-3817insCCGGAAATAGTCTTAAACTTGCTAGTTCACAGTA TTACAG	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding		3690		chr18	TogoVar
MAPT_chr17_45889554_46033334	45941680	C C	CTCCTTCC others(33): Show CTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	229	0.0044	40	c.-17 others(59): Show c.-17-20626_-17-20625insCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45941693	T T	TCCCTCCT others(33): Show TCCCTCCTTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	248	0.0040	40	c.-17 others(59): Show c.-17-20626_-17-20625insCTCCTTCCTTCCTTCCTTCCTGCCTT CCTTCCTTCCTGCC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163733201	A A	ATACATAC others(33): Show ATACATACACATGTATATATATATATATATATATACACATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02280.hp1 others(3): Show HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02809.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0024 a0001c0002t0015 a0001c0006t0014	a0001c0001t0005g0029 a0001c0001t0007g0049 a0001c0001t0017g0039 others(3): Show a0001c0001t0005g0029 a0001c0001t0007g0049 a0001c0001t0017g0039 a0001c0001t0024g0025 a0001c0002t0015g0050 a0001c0006t0014g0010	6	99	0.0606	40	c.112 others(59): Show c.112-32339_112-32338insCATGTGTATATATATATATATATATA TACATGTGTATGTA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163866466	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	20	0.0500	40	c.-38 others(59): Show c.-38-12298_-38-12297insTATATATATATATATATATATATATA TATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG03225.hp2 HG00639.hp2 HG01884.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0026 a0001c0001t0001 a0001c0001t0008 a0001c0001t0026	a0001c0001t0001g0031 a0001c0001t0008g0084 a0001c0001t0026g0032 a0001c0001t0001g0031 a0001c0001t0008g0084 a0001c0001t0026g0032	3	52	0.0577	40	c.-32 others(61): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATATATAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF4_chr2_216252865_216377483	216354891	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19070.hp1 NA19000.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0208 a0001c0002t0004g0311 a0001c0002t0004g0208 a0001c0002t0004g0311	2	67	0.0299	40	c.516 others(59): Show c.516+14814_516+14853dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar

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