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
MARCO_chr2_118937194_118999660	118986652	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03831.hp1 HG02083.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0264 a0001c0001t0001g0213 a0001c0001t0001g0264	2	256	0.0078	40	c.106 others(59): Show c.1064-3934_1064-3933insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAGGAAGGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCO_chr2_118937194_118999660	118986652	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	255	0.0039	40	c.106 others(59): Show c.1064-3934_1064-3933insAGAAAGAAAGAAAGAAAGAAGGAAGG AAGGAAGGAAGGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARS1_chr12_57483068_57521652	57493615	T T	TATTATAT others(33): Show TATTATATATTATAATATATTATGTATTATATATTATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG01884.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0177 a0001c0003t0001g0178	2	270	0.0074	40	c.770 others(57): Show c.770+2971_770+2972insATTATATATTATAATATATTATGTATTA TATATTATATTA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20			chr12	TogoVar
MAST1_chr19_12833515_12879952	12861680	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp1 NA20300.hp2 HG02630.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0015 a0001c0003t0001g0026 a0001c0009t0001g0021 a0001c0003t0001g0015 a0001c0003t0001g0026 a0001c0009t0001g0021	3	46	0.0652	40	c.136 others(59): Show c.1366+2978_1366+2979insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66693606	G G	GATGTCTT others(33): Show GATGTCTTAAGATTATAAAACAAAGTGCTAGATGCTATCAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01099.hp2 others(38): Show HG00323.hp2 HG00741.hp2 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01891.hp2 HG02027.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 NA18906.hp1 NA18950.hp1 NA19043.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0017 a0019	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0022 a0001c0033 a0002c0004 a0003c0005 a0003c0013 a0003c0023 a0004c0007 a0004c0011 a0006c0031 a0007c0014 a0008c0010 a0010c0029 a0011c0028 a0017c0032 a0019c0024	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(34): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0026 a0001c0001t0030 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0003t0001 a0001c0008t0006 a0001c0009t0002 a0001c0022t0008 a0001c0033t0007 a0002c0004t0002 a0003c0005t0010 a0003c0005t0018 a0003c0005t0025 a0003c0005t0028 a0003c0013t0017 a0003c0023t0010 a0004c0007t0004 a0004c0011t0014 a0006c0031t0027 a0007c0014t0007 a0008c0010t0022 a0010c0029t0001 a0011c0028t0003 a0017c0032t0006 a0019c0024t0001	a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0004g0033 others(38): Show a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0004g0033 a0001c0001t0005g0040 a0001c0001t0006g0077 a0001c0001t0008g0075 a0001c0001t0009g0041 a0001c0001t0014g0034 a0001c0001t0026g0104 a0001c0001t0030g0028 a0001c0002t0001g0069 a0001c0002t0004g0042 a0001c0002t0005g0053 a0001c0002t0005g0054 a0001c0002t0016g0070 a0001c0002t0019g0067 a0001c0002t0020g0031 a0001c0002t0024g0049 a0001c0003t0001g0076 a0001c0003t0001g0101 a0001c0008t0006g0085 a0001c0009t0002g0012 a0001c0022t0008g0091 a0001c0033t0007g0013 a0002c0004t0002g0021 a0002c0004t0002g0022 a0003c0005t0010g0029 a0003c0005t0018g0068 a0003c0005t0025g0105 a0003c0005t0028g0073 a0003c0013t0017g0006 a0003c0023t0010g0099 a0004c0007t0004g0065 a0004c0011t0014g0066 a0006c0031t0027g0100 a0007c0014t0007g0007 a0008c0010t0022g0063 a0010c0029t0001g0072 a0011c0028t0003g0032 a0017c0032t0006g0107 a0019c0024t0001g0088	41	106	0.3868	40	c.364 others(59): Show c.364-66084_364-66083insCAAAGTGCTAGATGCTATCAAATGTC TTAAGATTATAAAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67049008	C C	CACATATA others(33): Show CACATATATATATATACGTATATATATATATATATACGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp1 HG02809.hp2 HG03225.hp1	a0003 a0008 a0003 a0008	a0003c0005 a0008c0010 a0003c0005 a0008c0010	a0003c0005t0028 a0008c0010t0022 a0003c0005t0028 a0008c0010t0022	a0003c0005t0028g0073 a0008c0010t0022g0063 a0003c0005t0028g0073 a0008c0010t0022g0063	2	103	0.0194	40	c.675 others(57): Show c.675-5395_675-5394insCATATATATATATACGTATATATATATA TATATACGTGTA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67049058	T T	TATACGTG others(33): Show TATACGTGTATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0092	1	105	0.0095	40	c.675 others(57): Show c.675-5345_675-5344insTACGTGTATATATATATATATATATATA TATATATACACA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATN2_chr8_97864064_98041724	98037386	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0002 a0014c0036t0002	a0014c0036t0002g0110 a0014c0036t0002g0110	1	222	0.0045	40	c.16 others(51): Show c.1674_*1675insTGTGTGTGTGTGTATATATATATATATATATATA TATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		663		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18963.hp1 NA18747.hp2 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0232 a0001c0002t0001g0068 a0001c0002t0001g0232	2	100	0.0200	40	c.16 others(51): Show c.1680_*1681insTATATATATATATATATATATATATATATATATA TATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02735.hp2 HG02970.hp1 others(4): Show HG01074.hp1 HG02735.hp2 HG02970.hp1 HG03516.hp2 NA18967.hp1 NA19083.hp2 NA19088.hp2	a0003 a0006 a0003 a0006	a0003c0002 a0006c0007 a0003c0002 a0006c0007	a0003c0002t0001 a0006c0007t0001 a0003c0002t0001 a0006c0007t0001	a0003c0002t0001g0048 a0003c0002t0001g0197 a0003c0002t0001g0202 others(3): Show a0003c0002t0001g0048 a0003c0002t0001g0197 a0003c0002t0001g0202 a0003c0002t0001g0203 a0006c0007t0001g0200 a0006c0007t0001g0201	7	14	0.5000	40	c.-34 others(55): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD3L3_chr19_7051207_7063676	7061949	T T	TTATAATA others(33): Show TTATAATATAATATATTATATTATAATATATTATATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	285	0.0035	40	c.-33 others(51): Show c.-3345_-3344insTTATAATATAATATATTATAATATAATATATTAT ATTATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3274		chr19	TogoVar
MBD4_chr3_129425947_129444948	129426117	C C	CCTCTCCG others(33): Show CCTCTCCGGCTATTGTTTTTGGGCCCCTCTTTTCCTGATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	410	0.0024	40	c.53 others(51): Show c.5344_*5383dupTAATCAGGAAAAGAGGGGCCCAAAAACAATAGCC GGAGAG	MBD4	ENSG00000129071.10	transcript	ENST00000429544.7	protein_coding		4829		chr3	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0014 a0002c0002t0007g0014	1	32	0.0313	40	c.48 others(51): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBOAT1_chr6_20094684_20217469	20168599	G G	GAGAGAAG others(33): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp2 NA18906.hp1 HG02572.hp2 HG03209.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0001c0001t0010 a0003c0003t0007 a0001c0001t0008 a0001c0001t0010 a0003c0003t0007	a0001c0001t0008g0286 a0001c0001t0010g0259 a0003c0003t0007g0016 a0001c0001t0008g0286 a0001c0001t0010g0259 a0003c0003t0007g0016	3	53	0.0566	40	c.100 others(59): Show c.100-15870_100-15831dupTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAAGA others(33): Show AGAGAAGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	305	0.0033	40	c.100 others(59): Show c.100-15872_100-15871insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCTTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAGGA others(33): Show AGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	305	0.0033	40	c.100 others(59): Show c.100-15872_100-15871insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8912377	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02559.hp1 HG02818.hp1 others(4): Show HG01934.hp1 HG02559.hp1 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0041 others(4): Show a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0031g0038	7	118	0.0593	40	c.300 others(57): Show c.300-3662_300-3661insCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBP_chr18_76973833_77137783	76975180	C C	CTTCTTTT others(33): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0367 a0001c0002t0049g0367	1	78	0.0128	40	c.52 others(51): Show c.5246_*5247insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3652		chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0210 a0001c0001t0005g0210	1	137	0.0073	40	c.41 others(51): Show c.4153_*4154insATATATATATATATATATATATATATATATTTTT TTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(33): Show TTATATATATATATATATTTTTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	251	0.0040	40	c.10 others(51): Show c.1093_*1094insTATATATATATATATATATAAAAATATATATATA TATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179486	A A	ATATATAT others(33): Show ATATATATATATATTTTTATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0231 a0001c0001t0047g0231	1	324	0.0031	40	c.10 others(51): Show c.1089_*1090insAATATATATATATATATATATATAAAAATATATA TATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1089		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0159 a0001c0001t0035g0159	1	72	0.0139	40	c.176 others(59): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0167 a0001c0001t0021g0167	1	72	0.0139	40	c.176 others(59): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATATATTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	53	0.0189	40	c.671 others(57): Show c.671-5499_671-5498insTATATATATATATATATATATATATATA TATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 NA19007.hp2 HG02897.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	2	40	0.0500	40	c.-25 others(51): Show c.-2544_-2543insAAAAAAAAAAAAAAAATATATATATATATATATA TATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC5R_chr18_13819149_13832323	13821421	C C	CATACAAG others(33): Show CATACAAGCCAATAATCCAATATTCCAAACAGAACTATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	430	0.0023	40	c.-28 others(51): Show c.-2893_-2892insATACAAGCCAATAATCCAATATTCCAAACAGAAC TATACA	MC5R	ENSG00000176136.6	transcript	ENST00000589410.2	protein_coding		2727		chr18	TogoVar
MCCC1_chr3_183010218_183104496	183053904	G G	GTCTCACT others(33): Show GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTATGACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	342	0.0029	40	c.874 others(57): Show c.874-1665_874-1664insTGTCATACCACTGCACTCCAGCCTGGGC AACAGAGTGAGA	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	8/18			chr3	TogoVar
MCC_chr5_113017106_113493453	113132381	T T	TACATACA others(33): Show TACATACATATATATATACACACATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0018t0007g0104 a0001c0018t0007g0105	2	158	0.0127	40	c.885 others(57): Show c.885-9556_885-9555insGTGTATATATATATGTATGTGTGTATAT ATATATGTATGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183262124	C C	CGTTTTAT others(33): Show CGTTTTATGATACTTTATTATATACACTAAGGGTTAGTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02647.hp1 HG02735.hp1 others(2): Show HG01952.hp1 HG02647.hp1 HG02735.hp1 HG02976.hp1 HG03139.hp2	a0001 a0013 a0023 others(1): Show a0001 a0013 a0023 a0025	a0001c0001 a0013c0012 a0023c0027 others(1): Show a0001c0001 a0013c0012 a0023c0027 a0025c0020	a0001c0001t0001 a0013c0012t0001 a0023c0027t0002 others(1): Show a0001c0001t0001 a0013c0012t0001 a0023c0027t0002 a0025c0020t0005	a0001c0001t0001g0006 a0001c0001t0001g0082 a0013c0012t0001g0126 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0082 a0013c0012t0001g0126 a0023c0027t0002g0124 a0025c0020t0005g0170	5	119	0.0420	40	c.186 others(61): Show c.1862+14708_1862+14747dupAAGACTAACCCTTAGTGTATATAA TAAAGTATCATAAAAC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(33): Show GCGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0004 a0016 a0004 a0016	a0004c0004 a0016c0017 a0004c0004 a0016c0017	a0004c0004t0002 a0016c0017t0001 a0004c0004t0002 a0016c0017t0001	a0004c0004t0002g0120 a0016c0017t0001g0154 a0004c0004t0002g0120 a0016c0017t0001g0154	2	50	0.0400	40	c.130 others(59): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGACAA others(33): Show GAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG04184.hp1 HG03130.hp2 HG04184.hp1	a0024 a0026 a0024 a0026	a0024c0030 a0026c0019 a0024c0030 a0026c0019	a0024c0030t0004 a0026c0019t0001 a0024c0030t0004 a0026c0019t0001	a0024c0030t0004g0165 a0026c0019t0001g0032 a0024c0030t0004g0165 a0026c0019t0001g0032	2	89	0.0225	40	c.275 others(59): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTGTCTTG TCTTGTCTTGTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGAGAA others(33): Show GAAGAGAAGACAAGACAAGACAAGACAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02523.hp1 HG02559.hp2 others(8): Show HG00741.hp2 HG02523.hp1 HG02559.hp2 HG02895.hp1 HG03486.hp1 NA18994.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0016	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0009c0010 a0009c0032 a0016c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0016 a0004c0004t0001 a0009c0010t0007 a0009c0032t0011 a0016c0017t0001	a0001c0001t0001g0050 a0001c0001t0001g0123 a0001c0001t0001g0134 others(8): Show a0001c0001t0001g0050 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0002g0004 a0002c0002t0002g0015 a0002c0002t0016g0158 a0004c0004t0001g0060 a0009c0010t0007g0159 a0009c0032t0011g0152 a0016c0017t0001g0153 a0016c0017t0001g0154	11	98	0.1122	40	c.275 others(59): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTGTCTTG TCTTGTCTTCTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCM9_chr6_118808455_118940159	118843646	A A	ATATATAT others(33): Show ATATATATATATATATACACGTATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01258.hp1 HG01261.hp2 others(16): Show HG00735.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01928.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03834.hp1 NA18999.hp2 NA19030.hp1 NA19066.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA20129.hp1 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0011 a0002c0003t0002 a0002c0003t0011	a0002c0003t0002g0005 a0002c0003t0002g0059 a0002c0003t0002g0066 others(15): Show a0002c0003t0002g0005 a0002c0003t0002g0059 a0002c0003t0002g0066 a0002c0003t0002g0068 a0002c0003t0002g0071 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0011g0092 a0002c0003t0011g0093	19	335	0.0567	40	c.132 others(61): Show c.1325+12724_1325+12725insCACGTATATATATATATATACGTG TATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02132.hp1 HG03669.hp1 others(3): Show HG00597.hp2 HG02132.hp1 HG03669.hp1 NA18965.hp1 NA19054.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0196 a0001c0001t0006g0275 a0001c0001t0006g0276 others(3): Show a0001c0001t0006g0196 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0279 a0001c0001t0007g0166 a0001c0001t0007g0171	6	225	0.0267	40	c.42 others(51): Show c.4246_*4247insTATATATATATATATATATACACACACACACACA CACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 NA19085.hp1 HG02683.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0058 a0001c0001t0016g0172 a0001c0001t0007g0058 a0001c0001t0016g0172	2	221	0.0090	40	c.42 others(51): Show c.4246_*4247insTATATATATATATATATACACACACACACACACA CACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84987589	C C	CATATATG others(33): Show CATATATGTATATATATATACATATATGTATATATATACAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0327 a0001c0001t0002g0323 a0001c0001t0002g0327	2	270	0.0074	40	c.77+ others(55): Show c.77+9206_77+9207insATGTATATATATACATATATGTATATATAT ATACATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	50	0.0200	40	c.982 others(57): Show c.982-5151_982-5150insCTCTCTATATATATATATATATATATAT ATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95078022	T T	TCATCCAT others(33): Show TCATCCATCCATCCATCCATGTATCTGTCTATCCATCCATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02027.hp1 HG02055.hp1 others(3): Show HG00140.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG03704.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0005 a0001c0001t0020 a0001c0002t0001 others(2): Show a0001c0001t0005 a0001c0001t0020 a0001c0002t0001 a0001c0003t0010 a0001c0004t0001	a0001c0001t0005g0024 a0001c0001t0020g0004 a0001c0002t0001g0031 others(3): Show a0001c0001t0005g0024 a0001c0001t0020g0004 a0001c0002t0001g0031 a0001c0002t0001g0063 a0001c0003t0010g0027 a0001c0004t0001g0073	6	37	0.1622	40	c.721 others(59): Show c.721-60539_721-60538insGATGGATGGATAGACAGATACATGGA TGGATGGATGGATG	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94244406	T T	TCGTATAT others(33): Show TCGTATATGTATACACATACATATGCACCTATGTTTATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02015.hp1 NA18949.hp2 others(9): Show HG01978.hp2 HG02015.hp1 NA18949.hp2 NA18954.hp2 NA18979.hp2 NA18983.hp1 NA18999.hp2 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0009	a0001c0001t0001g0141 a0001c0001t0002g0020 a0001c0001t0004g0137 others(9): Show a0001c0001t0001g0141 a0001c0001t0002g0020 a0001c0001t0004g0137 a0001c0001t0004g0151 a0001c0002t0001g0135 a0001c0002t0001g0161 a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0004g0136 a0001c0002t0004g0138 a0001c0002t0004g0140 a0001c0005t0009g0060	12	258	0.0465	40	c.-66 others(59): Show c.-66+12814_-66+12853dupGTTTATATACGTATATGTATACACAT ACATATGCACCTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244819	C C	CACATATG others(33): Show CACATATGCACCTATGTTTATATACGTATATGTATACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG01243.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	270	0.0074	40	c.-66 others(59): Show c.-66+13248_-66+13287dupATGTTTATATACGTATATGTATACAC ATACATATGCACCT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDFI_chr6_41633468_41659244	41643564	A A	AGGAGGGA others(33): Show AGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	460	0.0022	40	c.77- others(55): Show c.77-2559_77-2558insGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDFI_chr6_41633468_41659244	41643576	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01928.hp2 HG01952.hp2 HG01346.hp2 HG01928.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0209 a0001c0001t0001g0239 a0001c0001t0001g0147 a0001c0001t0001g0209 a0001c0001t0001g0239	3	397	0.0076	40	c.77- others(55): Show c.77-2547_77-2546insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAGGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDFI_chr6_41633468_41659244	41643576	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	395	0.0025	40	c.77- others(55): Show c.77-2547_77-2546insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGGAGGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDFI_chr6_41633468_41659244	41656188	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03669.hp1 NA18994.hp2 others(1): Show HG00140.hp1 HG03669.hp1 NA18994.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0234 a0001c0001t0002g0050 a0001c0001t0002g0163 a0001c0001t0001g0234 a0001c0001t0002g0050 a0001c0001t0002g0163	4	457	0.0088	40	c.26 others(51): Show c.2613_*2614insCACACACACACACACACACACACACACACACACA CACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1945		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656190	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	441	0.0045	40	c.26 others(51): Show c.2615_*2616insCACACACACACACACACACACACACACACACACA CACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1947		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18974.hp1 HG02486.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0063 a0001c0001t0010 a0001c0001t0063	a0001c0001t0010g0387 a0001c0001t0063g0074 a0001c0001t0010g0387 a0001c0001t0063g0074	2	42	0.0476	40	c.68- others(53): Show c.68-776_68-737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698217	T T	TCGCTCTC others(33): Show TCGCTCTCTCTCTCGCTCTCTCTCTCGCTCTCTCTCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	399	0.0025	40	c.-14 others(51): Show c.-1407_-1406insCGAGAGAGAGAGAGCGAGAGAGAGAGCGAGAGAG AGAGCG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		335		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698256	T T	TCGCTCTC others(33): Show TCGCTCTCTCTCTCTCGCTCTCTCTCTCTCTCTCGCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG00099.hp2 HG01346.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0018 a0002c0004t0013 a0001c0002t0018 a0002c0004t0013	a0001c0002t0018g0051 a0002c0004t0013g0050 a0001c0002t0018g0051 a0002c0004t0013g0050	2	374	0.0053	40	c.-14 others(51): Show c.-1446_-1445insGGAGAGCGAGAGAGAGAGAGAGAGCGAGAGAGAG AGAGCG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		374		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47013772	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	25	0.0400	40	c.181 others(61): Show c.1819+21238_1819+21239insTATATATATATATATATATATATA TATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACATACATAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	39	0.0256	40	c.281 others(59): Show c.281-34196_281-34195insGTATGTATGTGTATATATATATATAT ATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar

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