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	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
MAN2A1_chr5_109684927_109874625	109708509	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG03540.hp1 others(4): Show HG00735.hp1 HG01934.hp1 HG03540.hp1 HG03654.hp2 NA18966.hp1 NA19060.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0290 a0002c0002t0002g0189 a0002c0002t0002g0205 others(4): Show a0001c0001t0001g0290 a0002c0002t0002g0189 a0002c0002t0002g0205 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0277	7	68	0.1029	34	c.136 others(51): Show c.136-5007_136-4974dupCACACACACACACACACACACACACACA CACACA		MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2A1_chr5_109684927_109874625	109708509	G G	GACAGACA others(27): Show GACAGACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0024 a0001c0004t0036g0024	1	62	0.0161	34	c.136 others(51): Show c.136-5008_136-5007insGACACACACACACACACACACACACACA CACACA		MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2B2_chr4_6570189_6628362	6579129	C C	CCACCACC others(27): Show CCACCACCATCACCACCACCACCCTTCACCACCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp2 HG03209.hp1 others(1): Show HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2	a0011 a0011	a0011c0011 a0011c0028 a0011c0011 a0011c0028	a0011c0011t0001 a0011c0011t0002 a0011c0028t0002 a0011c0011t0001 a0011c0011t0002 a0011c0028t0002	a0011c0011t0001g0052 a0011c0011t0001g0107 a0011c0011t0002g0106 others(1): Show a0011c0011t0001g0052 a0011c0011t0001g0107 a0011c0011t0002g0106 a0011c0028t0002g0053	4	356	0.0112	34	c.391 others(49): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116560226	A A	ATATATAT others(27): Show ATATATATATATATATATATATATGTATGTATATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0037 a0001c0001t0021g0037	1	437	0.0023	34	c.-10 others(51): Show c.-102+808_-102+809insATATATATGTATGTATATGTATATATAT ATATAT		MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	263	0.0038	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATGTGT		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(27): Show ATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(1): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0344 others(1): Show a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0344 a0001c0001t0001g0352	4	266	0.0150	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT GTGTGT		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(27): Show ATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02572.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0357 a0001c0001t0014g0212 a0001c0001t0001g0357 a0001c0001t0014g0212	2	264	0.0076	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATATGT GTGTGT		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(27): Show ATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG03098.hp2 others(1): Show HG00733.hp2 HG01069.hp1 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0001g0348 others(1): Show a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0356	4	266	0.0150	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATGTGT GTGTGT		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(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01993.hp1 HG03540.hp2 others(5): Show HG01257.hp1 HG01993.hp1 HG03540.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18970.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0120 a0001c0001t0001g0126 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0219 a0001c0001t0001g0224	8	196	0.0408	34	c.569 others(53): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACA		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(27): Show CACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02300.hp2 HG02683.hp2 others(3): Show HG00140.hp2 HG02300.hp2 HG02683.hp2 HG03834.hp1 NA18972.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0048 a0001c0001t0002g0062 a0001c0001t0002g0070 others(3): Show a0001c0001t0002g0048 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0005g0240	6	257	0.0233	34	c.569 others(53): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACATA		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66478417	C C	CAGGTATA others(27): Show CAGGTATATATATATACACACAGGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01934.hp2 others(13): Show HG01069.hp2 HG01071.hp2 HG01934.hp2 HG02165.hp2 HG02257.hp1 HG03491.hp1 HG03492.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18971.hp1 NA18986.hp2 NA19007.hp1 NA19062.hp1 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0219 others(13): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237	16	297	0.0539	34	c.569 others(51): Show c.569-3337_569-3336insGGTATATATATATACACACAGGTATATA TATATA		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590468	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02965.hp1 others(4): Show HG01261.hp1 HG01496.hp2 HG02965.hp1 HG03041.hp2 HG03516.hp2 HG03942.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0004g0236 others(4): Show a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0004g0236 a0001c0001t0004g0256 a0001c0001t0004g0269 a0001c0001t0008g0261 a0001c0001t0008g0262	7	14	0.5000	34	c.432 others(51): Show c.432-2450_432-2449insCTCTCTCTCTCTCTCTCTCTCTCTCACT CTCTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K15_chrX_19355059_19520508	19478125	A A	AGAGGGGG others(27): Show AGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0157 a0002c0003t0006g0157	1	158	0.0063	34	c.525 others(51): Show c.525+8356_525+8357insCTCTCTCCCCCTCTCTCCCCCTCTCTCC CCCCTC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0087 a0001c0007t0007g0087	1	6	0.1667	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATTTTT		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(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	6	0.1667	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATTTTTTT		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(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0181 a0003c0005t0005g0181	1	6	0.1667	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATATATATAT TTTTTTTT		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(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19009.hp2 NA19083.hp1 HG01261.hp2 NA19009.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0004t0002 a0002c0003t0003 a0001c0001t0002 a0001c0004t0002 a0002c0003t0003	a0001c0001t0002g0049 a0001c0004t0002g0093 a0002c0003t0003g0063 a0001c0001t0002g0049 a0001c0004t0002g0093 a0002c0003t0003g0063	3	8	0.3750	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATTTTTTTTT TTTTTTTT		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(27): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0055 a0002c0011t0003g0055	1	6	0.1667	34	c.160 others(53): Show c.160-35376_160-35375insATATATATTTTTTTTTTTTTTTTTTT TTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K3_chr17_63617417_63701305	63699349	C C	CTGCAAGG others(27): Show CTGCAAGGGGAAGTCAGTCGGGAGGGCCCCGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	178	0.0056	34	c.55 others(45): Show c.5572_*5573insTGCAAGGGGAAGTCAGTCGGGAGGGCCCCGCCAG		MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding					3045		chr17	TogoVar
MAP4K1_chr19_38582641_38622953	38621414	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02027.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0325 a0001c0001t0001g0278 a0001c0001t0001g0325	2	346	0.0058	34	c.-35 others(45): Show c.-3520_-3519insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding					3462		chr19	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	53	0.0189	34	c.96+ others(51): Show c.96+20911_96+20912insATATATATATATATATATATATATATTT TTTTTT		MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33						chr2	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	53	0.0189	34	c.96+ others(51): Show c.96+20911_96+20912insATATATATATATATATATATATATATAT ATTTTT		MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33						chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	10	0.1000	34	c.180 others(51): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	98	0.0102	34	c.223 others(51): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20						chr3	TogoVar
MAP7_chr6_136337734_136555422	136394931	C C	CATATATA others(27): Show CATATATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	9	0.1111	34	c.245 others(51): Show c.245-5415_245-5414insATATATATATATATGTATATATATATAT ATATAT		MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	3/17						chr6	TogoVar
MAPK1_chr22_21754657_21872645	21813039	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0071 a0001c0001t0037g0071	1	148	0.0068	34	c.120 others(51): Show c.120-5194_120-5193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8						chr22	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCAA others(27): Show GCGCGCAAACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0039 a0001c0002t0020g0039	1	62	0.0161	34	c.-39 others(45): Show c.-3938_-3937insCGCGCAAACACACACACACACACACACACACACA		MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding					3148		chr15	TogoVar
MAPKAP1_chr9_125432394_125712208	125693676	T T	TATATATA others(27): Show TATATATACACGTATATATACACGTATATATACAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	296	0.0034	34	c.-70 others(53): Show c.-70+13261_-70+13294dupGTGTATATATACGTGTATATATACGT GTATATAT		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11						chr9	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691482	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	83	0.0120	34	c.279 others(51): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA TATATA		MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691504	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA20752.hp2 HG03239.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0293 a0001c0001t0001g0148 a0001c0001t0001g0293	2	314	0.0064	34	c.279 others(51): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA TATACA		MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	113	0.0088	34	c.114 others(53): Show c.114+11389_114+11390insAAAAAATATATATATATATATATATA TATATATA		MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG02145.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0266 a0001c0001t0004g0267	2	114	0.0175	34	c.114 others(53): Show c.114+11389_114+11390insAAAATATATATATATATATATATATA TATATATA		MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr15	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02129.hp1 HG02273.hp2 others(2): Show HG01069.hp2 HG02129.hp1 HG02273.hp2 NA18973.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0162 a0001c0001t0001g0163	5	98	0.0510	34	c.210 others(51): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10						chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163599297	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0042 a0001c0006t0001g0042	1	12	0.0833	34	c.101 others(55): Show c.1010+12973_1010+12974insTATATATATATATATATATATATA TATATATATA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	7/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733204	T T	TACATACA others(27): Show TACATACACATGTATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0046 a0001c0002t0027g0046	1	84	0.0119	34	c.112 others(53): Show c.112-32342_112-32341insGTGTGTATATATATATATATATACAT GTGTATGT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163992766	C C	CTTATAAA others(27): Show CTTATAAAATATAAAATTATATTTTATATTTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0013g0015 a0001c0002t0003g0016 a0001c0001t0013g0015 a0001c0002t0003g0016	2	6	0.3333	34	c.-24 others(53): Show c.-247-4091_-247-4058dupATATAAATATAAAATATAATTTTATA TTTTATAA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	2/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19066.hp2 NA18963.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	2	51	0.0392	34	c.-32 others(55): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	50	0.0200	34	c.-32 others(55): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATAAA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9						chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02523.hp1 HG02818.hp2 others(2): Show HG01346.hp1 HG02523.hp1 HG02818.hp2 NA18949.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0003g0025 a0001c0001t0003g0223 a0001c0001t0009g0240 others(2): Show a0001c0001t0003g0025 a0001c0001t0003g0223 a0001c0001t0009g0240 a0001c0001t0010g0004 a0001c0001t0011g0264	5	48	0.1042	34	c.37 others(45): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding					833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126866897	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0197 a0001c0001t0036g0197	1	294	0.0034	34	c.37 others(45): Show c.3735_*3736insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding					816		chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216300350	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0172 a0001c0001t0004g0173	2	232	0.0086	34	c.517 others(53): Show c.517-16622_517-16621insTATATACATATATATATATATATATA TATATATA		MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3						chr2	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	31	0.0323	34	c.111 others(51): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493471	A A	ATATAATA others(27): Show ATATAATATATTATAATATATAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	269	0.0037	34	c.770 others(51): Show c.770+2837_770+2838insTATAATATATAATATATAATATATTATA ATATAT		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493776	T T	TATATATT others(27): Show TATATATTATATATTATAATATATTATATATTATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	130	0.0077	34	c.770 others(51): Show c.770+3149_770+3150insATATATTATATATTATAATATATTATAT ATTATA		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	2	0.5000	34	c.500 others(51): Show c.500+6271_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18093344	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA20300.hp1 HG02630.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0002 a0001c0017t0018 a0001c0003t0002 a0001c0017t0018	a0001c0003t0002g0176 a0001c0017t0018g0062 a0001c0003t0002g0176 a0001c0017t0018g0062	2	290	0.0069	34	c.-44 others(45): Show c.-4449_-4448insTATATATATATATATATATATATATATATATATG		MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding					4433		chr19	TogoVar
MAST3_chr19_18092778_18156687	18149704	T T	TCGGGGGG others(27): Show TCGGGGGGGGGAGCGGGCTGGGGGGGCGGGGAACG	frameshift_variant frameshift_variant	HIGH	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0014 a0006c0024t0001g0014	1	294	0.0034	34	c.402 others(43): Show c.4026_4027insGGGGGGAGCGGGCTGGGGGGGCGGGGAACGCGGG	p.Pro others(6): Show p.Pro1343fs	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	28/28	4042/6020	4027/4044	1343/1347		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66687467	C C	CATGTATA others(27): Show CATGTATATATGTATACATACATATATGTATATGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0001 a0019c0024t0001	a0019c0024t0001g0088 a0019c0024t0001g0088	1	106	0.0094	34	c.364 others(53): Show c.364-72234_364-72201dupTATGTATACATACATATATGTATATG TATGTATA		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG03139.hp2 HG02622.hp1 HG02809.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0019 a0001c0002t0020 a0001c0001t0008 a0001c0002t0019 a0001c0002t0020	a0001c0001t0008g0075 a0001c0002t0019g0067 a0001c0002t0020g0031 a0001c0001t0008g0075 a0001c0002t0019g0067 a0001c0002t0020g0031	3	52	0.0577	34	c.642 others(53): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28						chr5	TogoVar
MAST4_chr5_66591393_67174593	67069287	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0049 a0001c0002t0024g0049	1	11	0.0909	34	c.763 others(53): Show c.763+14820_763+14821insTATATATATATATATATATATATATA TATATATA		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr5	TogoVar

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