Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MAP4K1_chr19_38582641_38622953	38590395	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0218 a0001c0005t0001g0218	1	341	0.0029	-19	c.239 others(38): Show c.2397-2597_2397-2579delATATATATATATATATATA	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	30/30			chr19	TogoVar
MAP4K4_chr2_101692707_101899690	101737443	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0164 a0001c0001t0040g0164	1	294	0.0034	-19	c.123 others(38): Show c.123+38907_123+38925delATATATATATATATATATT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101851724	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01255.hp2 others(33): Show HG00099.hp1 HG00323.hp2 HG01255.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp2 HG03654.hp1 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18968.hp2 NA18970.hp2 NA18985.hp1 NA19007.hp2 NA19065.hp1 NA19077.hp1 NA19087.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0019 a0001c0002t0023 others(6): Show a0001c0002t0005 a0001c0002t0019 a0001c0002t0023 a0001c0002t0027 a0001c0002t0037 a0001c0002t0039 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050	a0001c0002t0005g0196 a0001c0002t0005g0207 a0001c0002t0005g0214 others(33): Show a0001c0002t0005g0196 a0001c0002t0005g0207 a0001c0002t0005g0214 a0001c0002t0005g0218 a0001c0002t0005g0219 a0001c0002t0005g0221 a0001c0002t0005g0222 a0001c0002t0005g0223 a0001c0002t0005g0224 a0001c0002t0005g0231 a0001c0002t0005g0237 a0001c0002t0005g0265 a0001c0002t0005g0266 a0001c0002t0005g0269 a0001c0002t0005g0271 a0001c0002t0005g0272 a0001c0002t0005g0273 a0001c0002t0005g0274 a0001c0002t0005g0276 a0001c0002t0005g0279 a0001c0002t0005g0280 a0001c0002t0005g0281 a0001c0002t0019g0232 a0001c0002t0019g0267 a0001c0002t0019g0270 a0001c0002t0019g0278 a0001c0002t0023g0230 a0001c0002t0023g0263 a0001c0002t0023g0277 a0001c0002t0027g0220 a0001c0002t0027g0282 a0001c0002t0037g0167 a0001c0002t0039g0303 a0001c0002t0048g0264 a0001c0002t0049g0275 a0001c0002t0050g0268	36	53	0.6792	-19	c.123 others(38): Show c.1234-4239_1234-4221delTTTTTTTTTTTTTTTTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47966228	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0010 a0010c0013t0010	a0010c0013t0010g0002 a0010c0013t0010g0002	1	8	0.1250	-19	c.292 others(38): Show c.292+11618_292+11636delAAAAAAAAAAAAAAAAAAA	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	3/20			chr3	TogoVar
MAP7D1_chr1_36151160_36185849	36152002	CCCTTGAG others(12): Show CCCTTGAGGCTGGGGCAGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	376	0.0027	-19	c.-44 others(30): Show c.-4415_-4397delCCTTGAGGCTGGGGCAGTG	MAP7D1	ENSG00000116871.16	transcript	ENST00000474796.2	protein_coding		4157		chr1	TogoVar
MAP7_chr6_136337734_136555422	136377043	GGATGTAG others(12): Show GGATGTAGGCTTACCGACTA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03486.hp2 HG01123.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0113 a0001c0001t0004g0075 a0001c0001t0001g0113 a0001c0001t0004g0075	2	246	0.0081	-19	c.751 others(34): Show c.751+693_751+711delTAGTCGGTAAGCCTACATC	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	7/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136402905	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	18	0.0556	-19	c.244 others(36): Show c.244+8696_244+8714delTTTTTTTTTTTTTTTTTTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	3/17			chr6	TogoVar
MAPK10_chr4_86005405_86365053	86191553	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(14): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02451.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp2 NA18522.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0030 a0001c0001t0041	a0001c0001t0001g0025 a0001c0001t0001g0105 a0001c0001t0002g0021 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0105 a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0154 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0099 a0001c0001t0005g0110 a0001c0001t0006g0098 a0001c0001t0013g0096 a0001c0001t0013g0097 a0001c0001t0016g0163 a0001c0001t0019g0132 a0001c0001t0020g0095 a0001c0001t0030g0131 a0001c0001t0041g0044	17	33	0.5152	-19	c.66+ others(34): Show c.66+2764_66+2782delAAAAAAAAAAAAAAAAAAA	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	3/13			chr4	TogoVar
MAPK11_chr22_50258713_50275380	50260224	GGACGGGG others(12): Show GGACGGGGCACTTTGCTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	426	0.0023	-19	c.47 others(30): Show c.4705_*4723delACCAGCAAAGTGCCCCGTC	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		3488		chr22	TogoVar
MAPK4_chr18_50555087_50736826	50730246	TAGGCCCA others(12): Show TAGGCCCAGAGAGGCAGAGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0213 a0002c0002t0021g0213	1	300	0.0033	-19	c.39 others(28): Show c.393_*411delAGGCCCAGAGAGGCAGAGA	MAPK4	ENSG00000141639.12	transcript	ENST00000400384.7	protein_coding	6/6	393		chr18	TogoVar
MAPK8IP2_chr22_50595793_50618978	50599274	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0074 a0001c0001t0009g0074	1	18	0.0556	-19	c.-15 others(30): Show c.-1544_-1526delAAAAAAAAAAAAAAAAAAA	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding		1518		chr22	TogoVar
MAPK8IP2_chr22_50595793_50618978	50614903	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03453.hp2 others(2): Show HG02965.hp2 HG02976.hp2 HG03453.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0001 a0001c0002t0010 a0001c0003t0001	a0001c0002t0010g0021 a0001c0003t0001g0089 a0001c0002t0010g0021 a0001c0003t0001g0089	5	24	0.2083	-19	c.41 others(30): Show c.4125_*4143delAAAAAAAAAAAAAAAAAAA	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding		926		chr22	TogoVar
MAPK8_chr10_48301677_48444360	48356841	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0262 a0001c0001t0006g0262	1	27	0.0370	-19	c.-49 others(38): Show c.-49-44750_-49-44732delAAAAAAAAAAAAAAAAAAA	MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPK9_chr5_180228143_180297083	180270861	AAAAAAAA others(12): Show AAAAAAAAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02486.hp2 others(3): Show HG02257.hp2 HG02258.hp2 HG02486.hp2 HG03225.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0024 a0001c0001t0001 a0001c0001t0021 a0001c0001t0024	a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0021g0262 others(3): Show a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0021g0262 a0001c0001t0021g0263 a0001c0001t0024g0260 a0001c0001t0024g0261	6	370	0.0162	-19	c.123 others(36): Show c.123-1471_123-1453delCTTTTTCTTTTTTTTTTTT	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding	2/11			chr5	TogoVar
MAPKAP1_chr9_125432394_125712208	125487432	TAAAATCA others(12): Show TAAAATCATTTAATGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(39): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02071.hp2 HG02735.hp2 HG03239.hp1 HG03491.hp2 HG03927.hp1 HG04199.hp1 NA18940.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18970.hp2 NA18980.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0002t0019 a0001c0002t0020 a0003c0005t0001	a0001c0001t0001g0135 a0001c0002t0001g0001 a0001c0002t0001g0002 others(39): Show a0001c0001t0001g0135 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0196 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0294 a0001c0002t0001g0298 a0001c0002t0003g0195 a0001c0002t0017g0205 a0001c0002t0019g0212 a0001c0002t0020g0300 a0003c0005t0001g0224	42	298	0.1409	-19	c.106 others(38): Show c.1067-2868_1067-2850delTAAAACATTAAATGATTTT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	8/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125518352	CATTACAT others(12): Show CATTACATCTGTAATCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0034 a0001c0001t0004g0035	2	298	0.0067	-19	c.959 others(38): Show c.959-11954_959-11936delATGGGATTACAGATGTAAT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	7/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125518371	TATTACAT others(12): Show TATTACATCTGTAATCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp1 HG02074.hp1 others(6): Show HG00544.hp1 HG01255.hp1 HG02074.hp1 NA18940.hp2 NA18952.hp2 NA18956.hp1 NA18970.hp2 NA18980.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0017 a0001c0001t0001 a0001c0002t0001 a0001c0002t0017	a0001c0001t0001g0284 a0001c0002t0001g0184 a0001c0002t0001g0191 others(6): Show a0001c0001t0001g0284 a0001c0002t0001g0184 a0001c0002t0001g0191 a0001c0002t0001g0196 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0017g0205	9	298	0.0302	-19	c.959 others(38): Show c.959-11973_959-11955delGTGGGATTACAGATGTAAT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	7/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125618341	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	40	0.0250	-19	c.499 others(38): Show c.499-32633_499-32615delTTTTTTTTTTTTTTTTTTT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125698289	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02280.hp2 others(1): Show HG01109.hp2 HG01243.hp1 HG02280.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 others(1): Show a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030	4	162	0.0247	-19	c.-70 others(36): Show c.-70+8663_-70+8681delATATATATATATATATATA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPT_chr17_45889554_46033334	45904221	TATATATA others(12): Show TATATATATTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	231	0.0043	-19	c.-18 others(36): Show c.-18+9555_-18+9573delATATATATTATATATTATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62793357	ACACCTCC others(12): Show ACACCTCCATCAACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	272	0.0037	-19	c.91- others(34): Show c.91-4777_91-4759delGTGGTGGTTGATGGAGGTG	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	2/10			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163829721	CATTACTT others(12): Show CATTACTTTTGGCAATGCAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02165.hp2 HG02293.hp2 others(10): Show HG00741.hp1 HG02165.hp2 HG02293.hp2 HG02735.hp2 NA18944.hp2 NA18963.hp1 NA18969.hp1 NA18972.hp2 NA18984.hp1 NA19009.hp1 NA19030.hp1 NA19066.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0008t0012	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0009g0033 a0001c0001t0009g0088 a0001c0001t0021g0028 a0001c0002t0002g0063 a0001c0002t0002g0080 a0001c0002t0003g0082 a0001c0008t0012g0026	13	102	0.1275	-19	c.111 others(38): Show c.111+24281_111+24299delTTGCATTGCCAAAAGTAAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163934764	GAAGTTGA others(12): Show GAAGTTGACTAACTTCAGTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01261.hp2 others(11): Show HG00639.hp1 HG01071.hp2 HG01261.hp2 HG01884.hp2 HG02897.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18952.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0021 a0001c0002t0002 a0001c0002t0011 a0001c0002t0015 a0001c0005t0011 a0001c0006t0001	a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0005g0037 others(11): Show a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0005g0037 a0001c0001t0006g0008 a0001c0001t0007g0049 a0001c0001t0009g0034 a0001c0001t0010g0061 a0001c0001t0021g0028 a0001c0002t0002g0011 a0001c0002t0002g0092 a0001c0002t0011g0013 a0001c0002t0015g0050 a0001c0005t0011g0069 a0001c0006t0001g0042	14	102	0.1373	-19	c.-39 others(38): Show c.-39+53718_-39+53736delGACTGAAGTTAGTCAACTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF4_chr2_216252865_216377483	216320656	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0303 a0001c0010t0009g0303	1	328	0.0030	-19	c.517 others(38): Show c.517-36946_517-36928delGAAAGAAAGAAAGAAAGAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216360875	GGTCTCAA others(12): Show GGTCTCAAATTCCAGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02258.hp2 others(14): Show HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0006 a0001c0002t0008 a0001c0003t0006	a0001c0001t0001g0188 a0001c0001t0004g0175 a0001c0001t0004g0179 others(14): Show a0001c0001t0001g0188 a0001c0001t0004g0175 a0001c0001t0004g0179 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0198 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0008g0185 a0001c0002t0006g0187 a0001c0002t0008g0176 a0001c0003t0006g0167 a0001c0003t0006g0168 a0001c0003t0006g0184	17	328	0.0518	-19	c.516 others(36): Show c.516+8851_516+8869delGAGCCCTGGAATTTGAGAC	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARK2_chr11_63834110_63916020	63856768	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02109.hp2 HG02922.hp2 others(1): Show HG01934.hp2 HG02109.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0013g0107	4	19	0.2105	-19	c.54+ others(36): Show c.54+17227_54+17245delTTTTTTTTTTTTTTTTTTT	MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
MARS1_chr12_57483068_57521652	57493513	AATATATA others(12): Show AATATATAATATATTATAAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02135.hp2 HG02132.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0040 a0001c0001t0001g0041	2	286	0.0070	-19	c.770 others(36): Show c.770+2875_770+2893delTAATATATTATAATATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARVELD3_chr16_71621184_71641465	71623209	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(333): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0005c0012 a0007c0008 a0008c0005 a0009c0006 a0010c0014 a0011c0013 a0012c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(16): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0007t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0003c0003t0002 a0003c0003t0012 a0005c0012t0002 a0007c0008t0001 a0008c0005t0001 a0009c0006t0001 a0010c0014t0001 a0011c0013t0011 a0012c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0006g0001 a0001c0001t0013g0004 a0001c0007t0001g0045 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0005g0002 a0002c0002t0005g0028 a0002c0002t0007g0002 a0002c0002t0007g0062 a0002c0002t0008g0050 a0002c0002t0009g0002 a0002c0002t0010g0005 a0003c0003t0002g0003 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0018 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0099 a0003c0003t0002g0100 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0113 a0003c0003t0012g0098 a0005c0012t0002g0012 a0007c0008t0001g0001 a0008c0005t0001g0020 a0009c0006t0001g0001 a0010c0014t0001g0002 a0011c0013t0011g0116 a0012c0010t0001g0053	336	349	0.9628	-19	c.-30 others(30): Show c.-3020_-3002delAAAAAAAAAAAAAAAAAAA	MARVELD3	ENSG00000140832.11	transcript	ENST00000268485.8	protein_coding		2974		chr16	TogoVar
MAST2_chr1_45798612_46041122	45888663	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18968.hp2 NA18969.hp2 others(7): Show NA18944.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18984.hp1 NA18986.hp2 NA19000.hp2 NA19007.hp1 NA19084.hp2	a0006 a0023 a0006 a0023	a0006c0006 a0023c0037 a0006c0006 a0023c0037	a0006c0006t0001 a0023c0037t0001 a0006c0006t0001 a0023c0037t0001	a0006c0006t0001g0005 a0006c0006t0001g0006 a0006c0006t0001g0007 others(7): Show a0006c0006t0001g0005 a0006c0006t0001g0006 a0006c0006t0001g0007 a0006c0006t0001g0008 a0006c0006t0001g0009 a0006c0006t0001g0011 a0006c0006t0001g0012 a0006c0006t0001g0013 a0006c0006t0001g0014 a0023c0037t0001g0010	10	11	0.9091	-19	c.500 others(36): Show c.500+6286_500+6304delTTTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18104179	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01981.hp1 NA19090.hp2 HG01952.hp2 HG01981.hp1 NA19090.hp2	a0003 a0010 a0003 a0010	a0003c0004 a0003c0009 a0010c0022 a0003c0004 a0003c0009 a0010c0022	a0003c0004t0005 a0003c0009t0004 a0010c0022t0001 a0003c0004t0005 a0003c0009t0004 a0010c0022t0001	a0003c0004t0005g0019 a0003c0009t0004g0018 a0010c0022t0001g0010 a0003c0004t0005g0019 a0003c0009t0004g0018 a0010c0022t0001g0010	3	5	0.6000	-19	c.40- others(34): Show c.40-3386_40-3368delAAAAAAAAAAAAAAAAAAA	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66685261	TCAAACAA others(12): Show TCAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 HG01256.hp1 others(7): Show HG00323.hp2 HG01099.hp2 HG01256.hp1 HG01257.hp2 HG02559.hp2 HG02572.hp2 HG03017.hp1 HG03041.hp1 NA18906.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0004c0007 a0004c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0005 a0001c0002t0024 a0002c0004t0002 a0004c0007t0004 a0004c0011t0014	a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0004g0033 others(7): Show a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0004g0033 a0001c0001t0005g0040 a0001c0002t0005g0053 a0001c0002t0024g0049 a0002c0004t0002g0021 a0002c0004t0002g0022 a0004c0007t0004g0065 a0004c0011t0014g0066	10	104	0.0962	-19	c.364 others(38): Show c.364-74443_364-74425delCAAAACAAAACAAAACAAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66775656	AAATGGTT others(12): Show AAATGGTTCTTCAAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG01361.hp1 others(6): Show HG00323.hp2 HG01099.hp1 HG01361.hp1 HG02155.hp2 HG02257.hp2 HG03041.hp1 HG03834.hp2 HG04199.hp1 NA20300.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0035 a0002c0004 a0014c0034	a0001c0001t0003 a0001c0002t0024 a0001c0003t0004 others(4): Show a0001c0001t0003 a0001c0002t0024 a0001c0003t0004 a0001c0003t0023 a0001c0035t0007 a0002c0004t0002 a0014c0034t0002	a0001c0001t0003g0035 a0001c0001t0003g0050 a0001c0001t0003g0051 others(6): Show a0001c0001t0003g0035 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0002t0024g0049 a0001c0003t0004g0043 a0001c0003t0023g0046 a0001c0035t0007g0008 a0002c0004t0002g0022 a0014c0034t0002g0010	9	106	0.0849	-19	c.518 others(38): Show c.518-13003_518-12985delCAAAAGAACAATGGTTCTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATCAP1_chr16_67170599_67188963	67178129	GAGCCCCG others(12): Show GAGCCCCGCCCCTCGCCCGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG01993.hp2 others(26): Show HG00438.hp2 HG01884.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp2 NA18522.hp1 NA19060.hp2 NA19078.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0015 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0011g0032	29	306	0.0948	-19	c.115 others(34): Show c.1154-41_1154-23delTCGGGCGAGGGGCGGGGCT	MATCAP1	ENSG00000196123.13	transcript	ENST00000563902.2	protein_coding	5/6			chr16	TogoVar
MATR3_chr5_139288740_139336677	139319860	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	89	0.0112	-19	c.160 others(36): Show c.1602+369_1602+387delTTTTTTTTTTTTTTTTTTT	MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAVS_chr20_3841834_3881118	3870634	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG02886.hp2 others(1): Show HG02109.hp1 HG02886.hp1 HG02886.hp2 NA19063.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0027 a0002c0016 a0003c0004 a0001c0027 a0002c0016 a0003c0004	a0001c0027t0114 a0002c0016t0042 a0003c0004t0125 a0001c0027t0114 a0002c0016t0042 a0003c0004t0125	a0001c0027t0114g0316 a0002c0016t0042g0143 a0002c0016t0042g0393 others(1): Show a0001c0027t0114g0316 a0002c0016t0042g0143 a0002c0016t0042g0393 a0003c0004t0125g0329	4	34	0.1176	-19	c.45 others(30): Show c.4511_*4529delAAAAAAAAAAAAAAAAAAA	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	7/7	4511	INFO_REALIGN_3_PRIME	chr20	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	3	0.3333	-19	c.171 others(36): Show c.171+3933_171+3951delTTTTTTTTTTTTTTTTTTT	MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4			chr14	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(12): Show CATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	49	0.0204	-19	c.212 others(38): Show c.212-28960_212-28942delTATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18964.hp2 NA18979.hp2 HG02300.hp2 NA18964.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0265 a0001c0002t0003g0192 a0001c0002t0003g0272 a0001c0001t0001g0265 a0001c0002t0003g0192 a0001c0002t0003g0272	3	257	0.0117	-19	c.212 others(38): Show c.212-28962_212-28944delTATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L3_chr19_7051207_7063676	7060914	GAAGAACA others(12): Show GAAGAACAGCTTCACAGTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG06807.hp2 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	-19	c.-23 others(30): Show c.-2328_-2310delTGACTGTGAAGCTGTTCTT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2239		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7042457	GAAGAACA others(12): Show GAAGAACAGCTTCACAGTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG02559.hp1 others(6): Show HG00741.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	262	0.0344	-19	c.-23 others(30): Show c.-2332_-2314delTGACTGTGAAGCTGTTCTT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2279		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7028290	ATTGACTG others(12): Show ATTGACTGTGAAGCTGTTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0007 a0001c0011t0002g0007	1	248	0.0040	-19	c.-23 others(30): Show c.-2321_-2303delTTGACTGTGAAGCTGTTCT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2287		chr19	TogoVar
MBD5_chr2_148016091_148521971	148294196	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0113 a0001c0001t0023g0113	1	2	0.5000	-19	c.-67 others(40): Show c.-679-47990_-679-47972delTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC1_chr7_100121967_100133495	100131311	TTTCTTTT others(12): Show TTTCTTTTCTTTTCTTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-19	c.31 others(30): Show c.3116_*3134delTTCTTTTCTTTTCTTTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		2817		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131825	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-19	c.36 others(30): Show c.3630_*3648delTTCTTTCTTTCTTTCTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		3331		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131828	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-19	c.36 others(30): Show c.3633_*3651delTTTCTTTCTTTCTTTCTTT	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		3334		chr7	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02280.hp1 HG03453.hp1 others(1): Show HG02071.hp1 HG02280.hp1 HG03453.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0034 a0001c0001t0001 a0001c0001t0010 a0001c0001t0034	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0010g0072 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0010g0072 a0001c0001t0034g0025	4	12	0.3333	-19	c.178 others(36): Show c.178-1719_178-1701delAAAAAAAAAAAAAAAAAAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8			chrX	TogoVar
MBP_chr18_76973833_77137783	77065654	AGCTATTT others(12): Show AGCTATTTTTTACAAACACT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0158 a0001c0001t0017g0158	1	394	0.0025	-19	c.139 others(34): Show c.139+625_139+643delAGTGTTTGTAAAAAATAGC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBTPS2_chrX_21834617_21890423	21856277	TCTCGCGC others(12): Show TCTCGCGCCTTTCTCTGCAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(119): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19077.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0002c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(96): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0033 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0006g0176 a0001c0001t0007g0225 a0001c0001t0009g0227 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0058 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0090 a0001c0002t0002g0102 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0243 a0001c0002t0003g0018 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0105 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0122 a0001c0002t0003g0241 a0001c0002t0003g0247 a0001c0002t0013g0121 a0002c0003t0002g0065	122	254	0.4803	-19	c.670 others(36): Show c.670+2856_670+2874delGCCTTTCTCTGCAGCTCGC	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21856359	GCCTTTCT others(12): Show GCCTTTCTCTGCAGCTCGCC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	305	0.0033	-19	c.670 others(36): Show c.670+2861_670+2879delTCTCTGCAGCTCGCCCCTT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21856364	TCTCTGCA others(12): Show TCTCTGCAGCTCGCCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG06807.hp1 HG02280.hp2 HG02886.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0249 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0249	3	304	0.0099	-19	c.670 others(36): Show c.670+2892_670+2910delGCCCCTTCCTCTGCAGCTC	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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