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
MARF1_chr16_15589387_15648154	15591970	A A	AATATATA others(18): Show AATATATAGATATATATCTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01123.hp1 others(16): Show HG00735.hp1 HG01081.hp1 HG01123.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02698.hp1 HG03239.hp2 HG03492.hp2 NA18988.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0001t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 others(16): Show a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0334 a0001c0011t0001g0184	19	391	0.0486	25	c.47 others(36): Show c.4722_*4723insAATATATAGATATATATCTATATAT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2416		chr16	TogoVar
MARF1_chr16_15589387_15648154	15591978	G G	GATATATA others(18): Show GATATATATCTATATATTATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp2 others(24): Show HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG02015.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp2 HG02615.hp2 HG02647.hp2 HG03098.hp2 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18952.hp2 NA18981.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19009.hp1 NA19043.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0026	a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0031 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0022g0276 a0001c0001t0026g0336	27	291	0.0928	25	c.47 others(36): Show c.4714_*4715insATATCTATAATATATAGATATATAT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2408		chr16	TogoVar
MARF1_chr16_15589387_15648154	15613684	T T	TAAATAAA others(18): Show TAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	370	0.0027	25	c.325 others(42): Show c.3254-908_3254-907insTATTTATTTATTTATTTATTTATTT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding	16/26			chr16	TogoVar
MARK3_chr14_103380415_103508831	103452471	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	141	0.0071	25	c.412 others(40): Show c.412+506_412+507insTTTTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18941.hp1 HG04204.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0044 a0001c0001t0003g0042 a0001c0001t0001g0044 a0001c0001t0003g0042	2	32	0.0625	25	c.111 others(42): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103470455	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	8	0.1250	25	c.126 others(44): Show c.1264+2286_1264+2287insTTTTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK4_chr19_45246271_45310284	45285659	G G	GTATCATA others(18): Show GTATCATATGGTTCATATGGTTCATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG03041.hp2 others(3): Show HG02109.hp1 HG02809.hp1 HG03041.hp2 HG03098.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0033 a0001c0001t0011g0048 others(3): Show a0001c0001t0011g0002 a0001c0001t0011g0033 a0001c0001t0011g0048 a0001c0001t0011g0051 a0001c0001t0011g0052 a0001c0001t0011g0053	6	256	0.0234	25	c.127 others(44): Show c.1277-1787_1277-1786insATCATATGGTTCATATGGTTCATTT	MARK4	ENSG00000007047.16	transcript	ENST00000262891.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARS1_chr12_57483068_57521652	57493669	T T	TATATATA others(18): Show TATATATAATTAATATATAATATACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	266	0.0038	25	c.770 others(42): Show c.770+3032_770+3033insATTAATATATAATATACAATATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARVELD2_chr5_69410116_69449330	69444009	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG01934.hp1 others(7): Show HG01106.hp2 HG01243.hp2 HG01934.hp1 HG02074.hp2 HG02683.hp1 NA18969.hp1 NA19000.hp2 NA19005.hp2 NA19011.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0019 a0002c0002t0009 others(1): Show a0001c0001t0009 a0001c0001t0019 a0002c0002t0009 a0002c0002t0019	a0001c0001t0009g0126 a0001c0001t0009g0128 a0001c0001t0009g0146 others(7): Show a0001c0001t0009g0126 a0001c0001t0009g0128 a0001c0001t0009g0146 a0001c0001t0019g0010 a0001c0001t0019g0143 a0002c0002t0009g0001 a0002c0002t0009g0004 a0002c0002t0009g0182 a0002c0002t0009g0242 a0002c0002t0019g0170	10	71	0.1408	25	c.23 others(36): Show c.2368_*2369insAAAAAAAAAAAAAAAAAAAAAAAAA	MARVELD2	ENSG00000152939.17	transcript	ENST00000325631.10	protein_coding	7/7	2369	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAS1_chr6_159885988_159922447	159890385	G G	GCTGGGAC others(18): Show GCTGGGACGCAGTCTGGGCATGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	346	0.0029	25	c.-99 others(34): Show c.-992_-991insCTGGGACGCAGTCTGGGCATGGCCA	MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding		602		chr6	TogoVar
MAST1_chr19_12833515_12879952	12868103	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01943.hp1 HG00642.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0265 a0001c0001t0001g0229 a0001c0001t0001g0265	2	76	0.0263	25	c.256 others(42): Show c.2566+149_2566+150insTTTTTTTTTTTTTTTTTTTTTTTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0154 a0007c0008t0001g0154	1	2	0.5000	25	c.500 others(42): Show c.500+6280_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45900195	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAGATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0118 a0002c0014t0001g0118	1	166	0.0060	25	c.500 others(44): Show c.500+17800_500+17801insAAAAAAAAAAAAAAAAAAAAAGATT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
MAST3_chr19_18092778_18156687	18100128	C C	CTCTTTTT others(18): Show CTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19084.hp2 HG02080.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0059 a0002c0001t0001g0058 a0001c0002t0001g0059 a0002c0001t0001g0058	2	115	0.0174	25	c.39+ others(40): Show c.39+2298_39+2299insCTTTTTTTTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66847820	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0087 a0001c0003t0011g0087	1	45	0.0222	25	c.643 others(44): Show c.643-52108_643-52107insAAAAAAAAAAAAAAAAAAAAAAAAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATN2_chr8_97864064_98041724	97947123	G G	GCACTTTG others(18): Show GCACTTTGGGAGACTGAGTTGGGCGT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0308 a0001c0001t0004g0308	1	316	0.0032	25	c.835 others(42): Show c.835+5225_835+5249dupCACTTTGGGAGACTGAGTTGGGCGT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97982946	G G	GGGTCACC others(18): Show GGGTCACCTGATTTCCACCCAGCTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp2 HG03139.hp2 others(2): Show HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0074 a0008c0023 a0008c0041 others(1): Show a0001c0074 a0008c0023 a0008c0041 a0008c0042	a0001c0074t0012 a0008c0023t0002 a0008c0041t0001 others(1): Show a0001c0074t0012 a0008c0023t0002 a0008c0041t0001 a0008c0042t0019	a0001c0074t0012g0147 a0008c0023t0002g0098 a0008c0023t0002g0099 others(2): Show a0001c0074t0012g0147 a0008c0023t0002g0098 a0008c0023t0002g0099 a0008c0041t0001g0100 a0008c0042t0019g0318	5	316	0.0158	25	c.108 others(44): Show c.1081+3939_1081+3963dupGGTCACCTGATTTCCACCCAGCTGT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0011 a0001c0046t0002g0011	1	126	0.0079	25	c.108 others(44): Show c.1082-6308_1082-6307insAAAAAAAAAAATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037419	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0249 a0002c0037t0001g0249	1	315	0.0032	25	c.17 others(36): Show c.1707_*1708insATATATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		696		chr8	TogoVar
MATN3_chr2_19987052_20017668	20010064	T T	TCCAAAAA others(18): Show TCCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01981.hp2 HG01256.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	2	426	0.0047	25	c.223 others(42): Show c.223+2344_223+2345insTTTTTTTTTTTTTTTTTTTTTTTGG	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03704.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG03704.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 others(1): Show a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264	4	7	0.5714	25	c.223 others(42): Show c.223+2341_223+2342insTTTTTTTTTTTTTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp2 HG01952.hp2 others(17): Show HG00558.hp2 HG01255.hp2 HG01952.hp2 HG02040.hp1 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG03017.hp2 HG04199.hp1 NA18747.hp1 NA18939.hp1 NA18980.hp2 NA18986.hp1 NA18991.hp1 NA18999.hp2 NA19003.hp2 NA19074.hp2 NA19077.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0084 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0005c0006t0001g0115 a0005c0006t0001g0116	20	27	0.7407	25	c.-34 others(40): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD2_chr18_54146606_54229669	54180897	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG02896.hp2 HG01884.hp1 HG02723.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0032 a0001c0001t0007 a0001c0001t0032	a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0032g0255 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0032g0255	3	113	0.0265	25	c.840 others(42): Show c.840+7976_840+7977insAAAAAAAAAAAAAAAAAAAAAAAAA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD2_chr18_54146606_54229669	54200676	T T	TTTATTTG others(18): Show TTTATTTGCACATTGAGAGGCAAAGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02723.hp2 others(4): Show HG02055.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0006 a0003c0003t0037 a0003c0003t0005 a0003c0003t0006 a0003c0003t0037	a0003c0003t0005g0014 a0003c0003t0005g0015 a0003c0003t0005g0016 others(4): Show a0003c0003t0005g0014 a0003c0003t0005g0015 a0003c0003t0005g0016 a0003c0003t0005g0017 a0003c0003t0005g0019 a0003c0003t0006g0013 a0003c0003t0037g0018	7	298	0.0235	25	c.702 others(42): Show c.702+4321_702+4322insGCTTTGCCTCTCAATGTGCAAATAA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	2/6			chr18	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0159 a0001c0001t0024g0159	1	84	0.0119	25	c.-67 others(46): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAAAAAAA A	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294507	T T	TTTTTTTT others(18): Show TTTTTTTTGTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0151 a0001c0001t0014g0151	1	90	0.0111	25	c.-67 others(46): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTGTTTGTTTTTT T	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148330117	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	185	0.0054	25	c.-67 others(46): Show c.-679-12096_-679-12095insACACACACACACACACACACACAC C	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0015 a0002c0002t0006g0015	1	32	0.0313	25	c.48 others(36): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 HG03490.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0229 a0001c0001t0003g0163 a0001c0001t0001g0229 a0001c0001t0003g0163	2	17	0.1176	25	c.174 others(44): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97368412	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(36): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG01070.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18945.hp2 NA18986.hp2 NA19000.hp2 NA19058.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0017 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0004g0173 a0001c0002t0001g0008 a0001c0002t0001g0156	39	162	0.2407	25	c.104 others(44): Show c.1048+3244_1048+3268dupAAATAAAATAAAATAAAATAAAATA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT1_chr6_20094684_20217469	20168528	A A	AAGAGGAG others(18): Show AAGAGGAGAGGAGAGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	299	0.0033	25	c.100 others(44): Show c.100-15760_100-15759insCCTCTCCTCTCCTCTCCTCTCCTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAAGA others(18): Show AGAGAAGAGAAGAGAAGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	305	0.0033	25	c.100 others(44): Show c.100-15872_100-15871insCTCTCCTCTCTTCTCTTCTCTTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAGGA others(18): Show AGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0301 a0001c0001t0066g0301	1	305	0.0033	25	c.100 others(44): Show c.100-15872_100-15871insCTCTCCTCTCCTCTCCTCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20191787	T T	TAGCTATA others(18): Show TAGCTATATTATTATAGTACTAATAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	334	0.0030	25	c.99+ others(42): Show c.99+20324_99+20348dupTTATTAGTACTATAATAATATAGCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT4_chr8_30126671_30149665	30143366	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	377	0.0027	25	c.119 others(42): Show c.119+1116_119+1117insATTTTTTTTTTTTTTTTTTTTTTTT	MBOAT4	ENSG00000177669.4	transcript	ENST00000320542.4	protein_coding	1/2			chr8	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 NA18967.hp1 HG00099.hp1 HG00741.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0024 a0001c0001t0010 a0001c0001t0024	a0001c0001t0010g0067 a0001c0001t0010g0190 a0001c0001t0024g0227 a0001c0001t0010g0067 a0001c0001t0010g0190 a0001c0001t0024g0227	3	259	0.0116	25	c.52 others(36): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MBP_chr18_76973833_77137783	76975180	C C	CTTCTGTT others(18): Show CTTCTGTTCTTTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0207 a0001c0001t0010g0207	1	78	0.0128	25	c.52 others(36): Show c.5246_*5247insAAGAAAAGAAAAGAAAAGAACAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3652		chr18	TogoVar
MBP_chr18_76973833_77137783	76975180	C C	CTTCTTTT others(18): Show CTTCTTTTCTTTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03225.hp1 HG02109.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0313 a0001c0001t0002g0303 a0001c0001t0002g0313	2	79	0.0253	25	c.52 others(36): Show c.5246_*5247insAAGAAAAGAAAAGAAAAGAAAAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3652		chr18	TogoVar
MBP_chr18_76973833_77137783	76975180	C C	CTTTTCTT others(18): Show CTTTTCTTTTCTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0204 a0001c0001t0011g0204	1	78	0.0128	25	c.52 others(36): Show c.5246_*5247insAAGAAAAGAAAAGAAGAAAAGAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3652		chr18	TogoVar
MBP_chr18_76973833_77137783	77029386	C C	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0356 a0001c0001t0008g0356	1	394	0.0025	25	c.140 others(44): Show c.140-12143_140-12119dupCCCTCTCTTTCCACGGTCTCCCTCT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77057824	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0234 a0001c0002t0020g0234	1	297	0.0034	25	c.139 others(42): Show c.139+8473_139+8474insAAAAAAAAAAAAAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118014	A A	ACGGGGAC others(18): Show ACGGGGACAGGGGGTTGGGGCGGGAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02129.hp1 HG02280.hp2 others(4): Show HG01981.hp2 HG02129.hp1 HG02280.hp2 HG02818.hp2 HG02895.hp1 HG03831.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0041 a0001c0002t0007 a0001c0002t0020	a0001c0001t0002g0233 a0001c0001t0004g0064 a0001c0001t0004g0121 others(4): Show a0001c0001t0002g0233 a0001c0001t0004g0064 a0001c0001t0004g0121 a0001c0001t0007g0355 a0001c0001t0041g0219 a0001c0002t0007g0337 a0001c0002t0020g0254	7	394	0.0178	25	c.-25 others(44): Show c.-25-12729_-25-12728insATCCCGCCCCAACCCCCTGTCCCCG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118209	T T	TGGGGACA others(18): Show TGGGGACAGTGGGTTGGGGTGGGATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	394	0.0025	25	c.-25 others(44): Show c.-25-12948_-25-12924dupCATCCCACCCCAACCCACTGTCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	137	0.0073	25	c.41 others(36): Show c.4153_*4154insATATATTTTTTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	137	0.0073	25	c.41 others(36): Show c.4153_*4154insATATATATTTTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02559.hp2 NA18975.hp2 HG02004.hp1 HG02559.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0052 a0001c0001t0001 a0001c0001t0052	a0001c0001t0001g0311 a0001c0001t0001g0323 a0001c0001t0052g0034 a0001c0001t0001g0311 a0001c0001t0001g0323 a0001c0001t0052g0034	3	139	0.0216	25	c.41 others(36): Show c.4153_*4154insATATATATATATATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0168 a0001c0001t0022g0168	1	137	0.0073	25	c.41 others(36): Show c.4153_*4154insATATATATATATATATATATTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0174 a0001c0001t0022g0174	1	137	0.0073	25	c.41 others(36): Show c.4153_*4154insATATATATATATATATATATATTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	218	0.0046	25	c.-22 others(36): Show c.-2267_-2266insTATATATATATATATATATATATAT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	39	0.0256	25	c.-25 others(36): Show c.-2544_-2543insAAATATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar

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