Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LTBP4_chr19_40596369_40634818	40625252	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0267 a0003c0018t0001g0273 a0003c0018t0001g0267 a0003c0018t0001g0273	2	338	0.0059	-44	c.383 others(61): Show c.3833-583_3833-540delATATATATATATATATATATATATATAT ATATATATATATATAT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LUC7L3_chr17_50714603_50761219	50729894	CATTATAT others(37): Show CATTATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00735.hp2 others(17): Show HG00280.hp1 HG00621.hp1 HG00735.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG02055.hp2 HG02148.hp2 HG02622.hp2 HG02647.hp2 HG02970.hp2 NA18946.hp2 NA18973.hp2 NA19056.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0043 a0001c0001t0004 a0001c0001t0043	a0001c0001t0004g0005 a0001c0001t0004g0042 a0001c0001t0004g0043 others(14): Show a0001c0001t0004g0005 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0043g0053	20	392	0.0510	-44	c.100 others(61): Show c.100-7065_100-7022delATTATATATATATATATATATATATATA TATATATATATATATA	LUC7L3	ENSG00000108848.16	transcript	ENST00000505658.6	protein_coding	1/9			chr17	TogoVar
LUZP2_chr11_24492053_25087638	24574211	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp2 HG02165.hp1 others(4): Show HG00423.hp1 HG02080.hp2 HG02165.hp1 HG02523.hp2 HG02683.hp2 HG02976.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0002c0002t0001 a0002c0002t0008	a0001c0001t0002g0019 a0001c0001t0002g0099 a0001c0001t0007g0015 others(4): Show a0001c0001t0002g0019 a0001c0001t0002g0099 a0001c0001t0007g0015 a0001c0001t0011g0107 a0001c0001t0014g0044 a0002c0002t0001g0009 a0002c0002t0008g0021	7	116	0.0603	-44	c.62+ others(61): Show c.62+76914_62+76957delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY96_chr8_73986392_74034079	73996364	CCTTCATT others(37): Show CCTTCATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02647.hp1 others(2): Show HG01167.hp1 HG01169.hp1 HG02647.hp1 NA19043.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0002g0026	5	314	0.0159	-44	c.112 others(61): Show c.112+4814_112+4857delCATTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
LY96_chr8_73986392_74034079	73996368	CATTCCTT others(37): Show CATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19011.hp2 HG03225.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0019 a0001c0001t0001g0041	2	314	0.0064	-44	c.112 others(61): Show c.112+4815_112+4858delATTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4			chr8	TogoVar
LY96_chr8_73986392_74034079	73996372	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01261.hp2 others(19): Show HG00735.hp1 HG01081.hp2 HG01261.hp2 HG01515.hp1 HG01891.hp2 HG01952.hp2 HG02004.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19056.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0006c0005t0001 a0001c0001t0001 a0001c0001t0002 a0006c0005t0001	a0001c0001t0001g0025 a0001c0001t0001g0081 a0001c0001t0001g0083 others(19): Show a0001c0001t0001g0025 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0002g0116 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0311 a0006c0005t0001g0302	22	314	0.0701	-44	c.112 others(61): Show c.112+4843_112+4886delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYRM4_chr6_5103419_5265950	5207326	ACCCTCAT others(37): Show ACCCTCATATACACAGCAGGCAAGGGCTCAGAAAATGAGTGCACG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 NA18522.hp2 HG02486.hp2 HG03130.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 a0002c0002t0002 a0002c0002t0013 a0002c0002t0015	a0002c0002t0002g0022 a0002c0002t0013g0024 a0002c0002t0015g0243 a0002c0002t0002g0022 a0002c0002t0013g0024 a0002c0002t0015g0243	3	286	0.0105	-44	c.207 others(61): Show c.207+9248_207+9291delCGTGCACTCATTTTCTGAGCCCTTGCCT GCTGTGTATATGAGGG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYZL2_chr10_30606779_30634753	30611558	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01952.hp1 NA18946.hp1 others(3): Show HG00621.hp2 HG01952.hp1 NA18946.hp1 NA18953.hp1 NA18994.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0234 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0248 a0001c0001t0001g0330	6	456	0.0132	-44	c.35 others(53): Show c.353_*396delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC CTTCCTTC	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		220		chr10	TogoVar
MAB21L4_chr2_240881048_240901156	240881646	GCCACTGA others(37): Show GCCACTGATCCAGCCCAGGAGGCAGGACCAGGCAGCCTCCCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	-44	c.53 others(55): Show c.5380_*5423delGCCGGGGAGGCTGCCTGGTCCTGCCTCCTGGGCT GGATCAGTGG	MAB21L4	ENSG00000172478.18	transcript	ENST00000388934.5	protein_coding		4401		chr2	TogoVar
MACROD2_chr20_13990516_16058197	15021173	CATACAGG others(37): Show CATACAGGTGTGCGTATACACACACCTGTGTGTATGTATACACAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	24	0.0417	-44	c.419 others(65): Show c.419-208765_419-208722delTACAGGTGTGCGTATACACACACC TGTGTGTATGTATACACATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15777494	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18970.hp2 NA19043.hp1 HG01081.hp1 NA18970.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0008 a0001c0001t0001 a0001c0001t0002 a0002c0002t0008	a0001c0001t0001g0012 a0001c0001t0002g0015 a0002c0002t0008g0023 a0001c0001t0001g0012 a0001c0001t0002g0015 a0002c0002t0008g0023	3	24	0.1250	-44	c.646 others(63): Show c.646-85235_646-85192delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	2052402	AGGAGGGC others(37): Show AGGAGGGCGCCGGACAGCTCACTAGGGCCCAGGCACAGCAGGCAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02451.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0167 a0001c0006t0001g0158 a0001c0001t0001g0167 a0001c0006t0001g0158	2	264	0.0076	-44	c.121 others(65): Show c.1218+16748_1218+16791delCTGCCTGCTGTGCCTGGGCCCTAG TGAGCTGTCCGGCGCCCTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1334078	TCACCCCT others(37): Show TCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp1 others(35): Show HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01884.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02683.hp1 HG02738.hp2 HG03130.hp1 HG03516.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18943.hp2 NA18947.hp2 NA18967.hp2 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0011t0001	a0001c0001t0001g0129 a0001c0001t0001g0244 a0001c0001t0001g0245 others(33): Show a0001c0001t0001g0129 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0001g0370 a0001c0002t0001g0001 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0091 a0001c0002t0003g0116 a0001c0002t0011g0087 a0001c0011t0001g0166	38	388	0.0979	-44	c.765 others(61): Show c.765+1220_765+1263delTGCACCCATCCCATGCCTACCGTGCTCA CCCCCATGCCCACCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAFA_chr8_143423064_143435732	143435346	AGCCCAGG others(37): Show AGCCCAGGGCCTCCTGAGAGTCCCTCCTCAGCCTGTCGCTGCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA18995.hp2 HG03209.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0005 a0002c0005t0012 a0001c0001t0005 a0002c0005t0012	a0001c0001t0005g0000 a0002c0005t0012g0000 a0001c0001t0005g0000 a0002c0005t0012g0000	2	446	0.0045	-44	c.-49 others(55): Show c.-4984_-4941delAGAGCAGCGACAGGCTGAGGAGGGACTCTCAGGA GGCCCTGGGC	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding		4615		chr8	TogoVar
MAGI2_chr7_78012055_79458667	78573277	TATATATT others(37): Show TATATATTTATATAAATATATATATTTATATATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	40	0.0250	-44	c.539 others(63): Show c.539-51676_539-51633delTTATATATTTATATATATAAATATAT ATATTTATATAAATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21			chr7	TogoVar
MAGT1_chrX_77820747_77900435	77834218	ATATATAT others(37): Show ATATATATGCATATATGTATATATATGCATATATATACATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	260	0.0039	-44	c.902 others(61): Show c.902-3367_902-3324delCACACATGTATATATATGCATATATATA CATATATGCATATATA	MAGT1	ENSG00000102158.22	transcript	ENST00000618282.5	protein_coding	8/9			chrX	TogoVar
MAK_chr6_10757723_10843539	10813102	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATAAATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	272	0.0037	-44	c.358 others(59): Show c.358+498_358+541delAAAAAAAAAATTTATATATATATATATATA TATATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAL_chr2_95020708_95058992	95037833	TGACTGAG others(37): Show TGACTGAGTGACTGAGTGTGTGAGTGACTGACTGAGTGAGTGAGA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	324	0.0031	-44	c.94- others(61): Show c.94-10114_94-10071delTGAGTGTGTGAGTGACTGACTGAGTGAG TGAGAGACTGAGTGAC	MAL	ENSG00000172005.11	transcript	ENST00000309988.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAN1B1_chr9_137081985_137114183	137102752	ACATTCAC others(37): Show ACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18978.hp2 NA19084.hp1 HG03225.hp2 NA18978.hp2 NA19084.hp1	a0007 a0016 a0007 a0016	a0007c0011 a0016c0028 a0007c0011 a0016c0028	a0007c0011t0002 a0016c0028t0002 a0007c0011t0002 a0016c0028t0002	a0007c0011t0002g0040 a0016c0028t0002g0139 a0007c0011t0002g0040 a0016c0028t0002g0139	3	404	0.0074	-44	c.125 others(63): Show c.1254+1084_1254+1127delTCACACTTGCAGGCGTGCAGGTCGGT GGTGTTACACACATTCAT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAOA_chrX_43651299_43751817	43657181	ATATATAT others(37): Show ATATATATATATGAACTGTGTTTATATATATATATGAACTGTGTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	283	0.0035	-44	c.73+ others(57): Show c.73+779_73+822delGAACTGTGTTTATATATATATATGAACTGTGT TTATATATATAT	MAOA	ENSG00000189221.11	transcript	ENST00000338702.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAP2K4_chr17_12015877_12148828	12069890	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04115.hp2 HG03453.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0126 a0001c0001t0001g0131	2	322	0.0062	-44	c.219 others(63): Show c.219-11447_219-11404delATATATATATATATATATATATATAT ATATATATATATATATAT	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2_chr2_209419047_209739112	209593748	ATATTATA others(37): Show ATATTATATATAATATATAATATAATATAATACATTATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG04204.hp2 HG01975.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0025 a0001c0001t0003g0022 a0001c0001t0002g0025 a0001c0001t0003g0022	2	148	0.0135	-44	c.-10 others(65): Show c.-107+13652_-107+13695delTATATATAATATATAATATAATAT AATACATTATATTATATTAT	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(37): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02698.hp1 HG02698.hp2 others(1): Show HG01261.hp2 HG02698.hp1 HG02698.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0132 a0001c0001t0003g0131 a0001c0001t0004g0133 others(1): Show a0001c0001t0001g0132 a0001c0001t0003g0131 a0001c0001t0004g0133 a0001c0001t0013g0134	4	328	0.0122	-44	c.-38 others(59): Show c.-38+475_-38+518delCACACACACACACACACACACACACACACA CACACACACACACA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K1_chr5_56810549_56901152	56835306	AGACAGGA others(37): Show AGACAGGAAGGCAGGGAAGAGGAGACAAGGAGGCAGGGAAGAGTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0017 a0003c0002t0017	a0003c0002t0017g0215 a0003c0002t0017g0215	1	384	0.0026	-44	c.482 others(63): Show c.482+19278_482+19321delAGGAGGCAGGGAAGAGTTGACAGGAA GGCAGGGAAGAGGAGACA	MAP3K1	ENSG00000095015.6	transcript	ENST00000399503.4	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP3K1_chr5_56810549_56901152	56835357	AAGGCAGG others(37): Show AAGGCAGGGAAGAGGAGACAGGAAGGCAGGGAAGAGGAGACAAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG01891.hp2 HG02896.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0005 a0003c0002t0004 a0003c0002t0005	a0003c0002t0004g0038 a0003c0002t0005g0037 a0003c0002t0004g0038 a0003c0002t0005g0037	2	384	0.0052	-44	c.482 others(63): Show c.482+19316_482+19359delGAGACAGGAAGGCAGGGAAGAGGAGA CAAGGAGGCAGGGAAGAG	MAP3K1	ENSG00000095015.6	transcript	ENST00000399503.4	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP3K1_chr5_56810549_56901152	56835372	AGACAGGA others(37): Show AGACAGGAAGGCAGGGAAGAGGAGACAAGGAGGCAGGGAAGAGTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0312 a0001c0001t0028g0312	1	384	0.0026	-44	c.482 others(63): Show c.482+19344_482+19387delAGGAGGCAGGGAAGAGTTGACAGGAA GGCAGGGAAGAGGAGACA	MAP3K1	ENSG00000095015.6	transcript	ENST00000399503.4	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP7D2_chrX_20001713_20121907	20094498	ATATATAT others(37): Show ATATATATATATATATATGTATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	210	0.0048	-44	c.130 others(63): Show c.130+22208_130+22251delCATATATATATATATATATATATATA CATATATATATATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAPK8IP3_chr16_1701195_1775351	1735626	CGTGTGAC others(37): Show CGTGTGACTGTCCATGTGAGTGTGACCATCCATGTGAGCATCCGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	330	0.0030	-44	c.602 others(61): Show c.602+6052_602+6095delTGACTGTCCATGTGAGTGTGACCATCCA TGTGAGCATCCGTGTG	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPKAP1_chr9_125432394_125712208	125623712	GGGTCAGC others(37): Show GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	300	0.0033	-44	c.498 others(63): Show c.498+33895_498+33938delACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAPK5_chr12_111837228_111907222	111862073	ATGCCTTC others(37): Show ATGCCTTCCTACCTTCTCCTTTGTCATTAAAATATGTGAGAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02055.hp2 others(6): Show HG01168.hp1 HG01169.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG03453.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0081 a0001c0001t0010 a0001c0001t0023 a0001c0001t0081	a0001c0001t0010g0005 a0001c0001t0010g0125 a0001c0001t0010g0127 others(4): Show a0001c0001t0010g0005 a0001c0001t0010g0125 a0001c0001t0010g0127 a0001c0001t0010g0128 a0001c0001t0023g0072 a0001c0001t0023g0126 a0001c0001t0081g0005	9	352	0.0256	-44	c.37- others(59): Show c.37-3176_37-3133delTGCCTTCCTACCTTCTCCTTTGTCATTAAA ATATGTGAGAAAAT	MAPKAPK5	ENSG00000089022.15	transcript	ENST00000550735.7	protein_coding	1/13			chr12	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(37): Show CTATATAACTATATAACTATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG01099.hp2 HG01168.hp2 others(26): Show HG00621.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01975.hp1 HG02004.hp2 HG02155.hp1 HG02165.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03453.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18956.hp1 NA18960.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18987.hp1 NA19001.hp2 NA19003.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp1 NA19070.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0041 a0001c0001t0133 a0001c0001t0135 a0001c0001t0148 a0001c0001t0152	a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0217 others(26): Show a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0003g0003 a0001c0001t0003g0219 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0180 a0001c0001t0015g0190 a0001c0001t0015g0216 a0001c0001t0015g0226 a0001c0001t0015g0267 a0001c0001t0041g0228 a0001c0001t0041g0261 a0001c0001t0133g0218 a0001c0001t0135g0208 a0001c0001t0148g0205 a0001c0001t0152g0200	29	284	0.1021	-44	c.19 others(55): Show c.1946_*1989delACTATATAACTATATATATATATATATATATATA TATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(37): Show CTATATAACTATATATATATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG03516.hp1 NA18747.hp1 others(2): Show HG02922.hp2 HG03516.hp1 NA18747.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0118 a0001c0001t0119 a0001c0001t0185 others(1): Show a0001c0001t0118 a0001c0001t0119 a0001c0001t0185 a0001c0003t0045	a0001c0001t0118g0049 a0001c0001t0119g0009 a0001c0001t0185g0171 others(2): Show a0001c0001t0118g0049 a0001c0001t0119g0009 a0001c0001t0185g0171 a0001c0003t0045g0129 a0001c0003t0045g0130	5	284	0.0176	-44	c.19 others(55): Show c.1954_*1997delACTATATATATATATATATATATATATATATATA TATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCO_chr2_118937194_118999660	118986628	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02615.hp1 HG02723.hp2 others(9): Show HG00673.hp2 HG02615.hp1 HG02723.hp2 HG03098.hp2 NA18959.hp1 NA18960.hp1 NA18970.hp1 NA18981.hp1 NA19082.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0159 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0159 a0001c0001t0001g0212 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0003t0001g0227 a0002c0002t0001g0032 a0002c0002t0001g0135	12	394	0.0305	-44	c.106 others(63): Show c.1064-3933_1064-3890delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAAAGAAAGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARS2_chr2_197700369_197713395	197712812	AACTCATA others(37): Show AACTCATACTAGACATTAGCATTTCAGTCTTTAATGCTTACTACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	382	0.0026	-44	c.56 others(55): Show c.5626_*5669delACTCATACTAGACATTAGCATTTCAGTCTTTAAT GCTTACTACT	MARS2	ENSG00000247626.5	transcript	ENST00000282276.8	protein_coding		4418		chr2	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp2 HG02559.hp1 others(13): Show HG01081.hp1 HG02258.hp2 HG02559.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0005 a0001c0001 a0001c0008 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0008t0004 a0003c0005t0004	a0001c0001t0001g0103 a0001c0001t0001g0153 a0001c0001t0002g0128 others(13): Show a0001c0001t0001g0103 a0001c0001t0001g0153 a0001c0001t0002g0128 a0001c0001t0002g0250 a0001c0001t0004g0107 a0001c0001t0004g0118 a0001c0001t0004g0136 a0001c0001t0004g0152 a0001c0001t0004g0162 a0001c0001t0004g0168 a0001c0001t0004g0178 a0001c0001t0004g0222 a0001c0001t0004g0265 a0001c0001t0005g0173 a0001c0008t0004g0091 a0003c0005t0004g0144	16	298	0.0537	-44	c.212 others(63): Show c.212-28985_212-28942delATATATATATATATATATATATATAT ATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBOAT7_chr19_54168415_54194580	54181689	GGGAGGGA others(37): Show GGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	373	0.0027	-44	c.494 others(59): Show c.494-600_494-557delTTCCTTCCCTCCTTCCCTCCCTTCTTCCTT CCCTCCTTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG03471.hp1 others(1): Show HG01074.hp1 HG01884.hp2 HG03471.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0114 a0001c0001t0123 others(1): Show a0001c0001t0001 a0001c0001t0114 a0001c0001t0123 a0001c0001t0155	a0001c0001t0001g0139 a0001c0001t0114g0224 a0001c0001t0123g0216 others(1): Show a0001c0001t0001g0139 a0001c0001t0114g0224 a0001c0001t0123g0216 a0001c0001t0155g0182	4	340	0.0118	-44	c.122 others(63): Show c.1225-1724_1225-1681delATATATATATATATATATATATATAT ATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MCCC2_chr5_71582340_71663706	71618488	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0080 a0003c0008t0006g0080	1	350	0.0029	-44	c.625 others(61): Show c.625-8132_625-8089delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCC_chr5_113017106_113493453	113145763	CACACACA others(37): Show CACACACACACACACACACACAAACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02572.hp1 others(3): Show HG01243.hp2 HG02145.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp2	a0001 a0003 a0001 a0003	a0001c0016 a0001c0027 a0001c0047 others(1): Show a0001c0016 a0001c0027 a0001c0047 a0003c0036	a0001c0016t0006 a0001c0016t0023 a0001c0027t0001 others(2): Show a0001c0016t0006 a0001c0016t0023 a0001c0027t0001 a0001c0047t0002 a0003c0036t0007	a0001c0016t0006g0042 a0001c0016t0006g0052 a0001c0016t0023g0047 others(3): Show a0001c0016t0006g0042 a0001c0016t0006g0052 a0001c0016t0023g0047 a0001c0027t0001g0071 a0001c0047t0002g0041 a0003c0036t0007g0007	6	160	0.0375	-44	c.742 others(61): Show c.742-2447_742-2404delTTGTGTGTGTGTGTGTGTGTGTTTGTGT GTGTGTGTGTGTGTGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	4/18			chr5	TogoVar
MCM10_chr10_13156558_13216110	13204990	GTATGTAT others(37): Show GTATGTATGTATGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0319 a0004c0005t0005g0319	1	432	0.0023	-44	c.249 others(61): Show c.2498+630_2498+673delGTATGTATGTATATATATATATATATAT ATATATATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCTP1_chr5_94698690_95290094	95207947	GGGAGAGA others(37): Show GGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp2 HG02572.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0025 a0001c0001t0002 a0001c0013t0025	a0001c0001t0002g0084 a0001c0013t0025g0015 a0001c0001t0002g0084 a0001c0013t0025g0015	2	98	0.0204	-44	c.720 others(63): Show c.720+75865_720+75908delTTCTCTCTCTCTCCCTCTCTCTCCCT CTCTCTCCCTCTCTCTCC	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95230157	AATACACA others(37): Show AATACACACACATATACACATACATATATGTGTGTGTGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02027.hp1 HG02055.hp2 others(14): Show HG01346.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02135.hp2 HG02559.hp2 HG02922.hp1 HG03139.hp2 HG03704.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18952.hp1 NA19009.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0039 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010 a0001c0003t0026 a0001c0004t0001 a0001c0004t0006 a0001c0012t0038	a0001c0001t0002g0032 a0001c0001t0003g0018 a0001c0001t0003g0021 others(14): Show a0001c0001t0002g0032 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0015g0028 a0001c0001t0015g0030 a0001c0001t0039g0029 a0001c0002t0001g0031 a0001c0002t0006g0023 a0001c0002t0012g0017 a0001c0003t0003g0025 a0001c0003t0003g0072 a0001c0003t0005g0026 a0001c0003t0010g0027 a0001c0003t0026g0051 a0001c0004t0001g0020 a0001c0004t0006g0019 a0001c0012t0038g0033	17	98	0.1735	-44	c.720 others(63): Show c.720+53655_720+53698delATATATACACACACACATATATGTAT GTGTATATGTGTGTGTAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94243320	CATACGTA others(37): Show CATACGTATGCGTATATGCGTATGTACATACATACGTATGCGTAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02647.hp1 others(1): Show HG02055.hp1 HG02258.hp1 HG02647.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0001 a0001c0002t0019 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0019 a0001c0005t0052	a0001c0001t0003g0180 a0001c0002t0001g0179 a0001c0002t0019g0036 others(1): Show a0001c0001t0003g0180 a0001c0002t0001g0179 a0001c0002t0019g0036 a0001c0005t0052g0178	4	276	0.0145	-44	c.-66 others(63): Show c.-66+11659_-66+11702delACGTATGCGTATATGCGTATGTACAT ACATACGTATGCGTATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244855	CACATACA others(37): Show CACATACATATGCACCTATGTTTATATACGTATATGTATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01081.hp1 others(12): Show HG00280.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01928.hp1 HG02109.hp2 HG02293.hp2 HG03471.hp1 HG03669.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0002c0003t0005 a0002c0003t0007 a0002c0003t0024 a0002c0003t0025 a0002c0004t0010 a0002c0019t0030	a0001c0001t0001g0069 a0001c0001t0002g0072 a0001c0001t0006g0066 others(12): Show a0001c0001t0001g0069 a0001c0001t0002g0072 a0001c0001t0006g0066 a0001c0001t0012g0075 a0001c0001t0014g0076 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0003g0064 a0002c0003t0005g0073 a0002c0003t0007g0065 a0002c0003t0007g0067 a0002c0003t0024g0077 a0002c0003t0025g0078 a0002c0004t0010g0063 a0002c0019t0030g0070	15	276	0.0544	-44	c.-66 others(63): Show c.-66+13197_-66+13240delCATATGCACCTATGTTTATATACGTA TATGTATACACATACATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390070	ATATATAT others(37): Show ATATATATATATATATATATGTATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0045 a0005c0014t0045	a0005c0014t0045g0176 a0005c0014t0045g0176	1	276	0.0036	-44	c.178 others(63): Show c.1788+4564_1788+4607delTGTATATATATATATATATATATATG TATATATATATATATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCUB_chr4_109555246_109693719	109663879	AACCCAGT others(37): Show AACCCAGTAACCACCTGATGAGCTCTGCTGCCTACACTCCACCCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG02071.hp2 others(8): Show HG00438.hp1 HG00621.hp1 HG02071.hp2 HG02083.hp2 HG02602.hp1 HG02738.hp1 HG03704.hp1 NA18962.hp1 NA18975.hp2 NA18986.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0231 a0001c0001t0005g0095 a0001c0001t0005g0097 others(8): Show a0001c0001t0003g0231 a0001c0001t0005g0095 a0001c0001t0005g0097 a0001c0001t0005g0099 a0001c0001t0005g0115 a0001c0001t0005g0171 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0279	11	336	0.0327	-44	c.347 others(59): Show c.347-406_347-363delAGTAACCACCTGATGAGCTCTGCTGCCTAC ACTCCACCCTACCC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	210	0.0048	-44	c.151 others(63): Show c.151-30328_151-30285delTATATATATATATATATATATATATA TATATATATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MED13L_chr12_115953576_116282693	116027092	CATGTGGC others(37): Show CATGTGGCATAACATTTTTCTGAACAGATCATTTAAAAAACCTAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	254	0.0039	-44	c.480 others(61): Show c.480-4535_480-4492delTTAGGTTTTTTAAATGATCTGTTCAGAA AAATGTTATGCCACAT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED27_chr9_131855112_132084867	132000063	CTCAAAAG others(37): Show CTCAAAAGTAAAATCACTTTTGATCAAAAGTAAAATCACTTTTGA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19067.hp2 NA19074.hp2 HG03453.hp2 NA19067.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0078 a0002c0002t0001g0273 a0001c0001t0001g0065 a0001c0001t0001g0078 a0002c0002t0001g0273	3	274	0.0110	-44	c.479 others(63): Show c.479+14230_479+14273delTCAAAAGTGATTTTACTTTTGATCAA AAGTGATTTTACTTTTGA	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MEGF6_chr1_3482951_3616508	3483074	GGCTCAGC others(37): Show GGCTCAGCTGGAGAGGGGTCCCAGGAGACAGACAGGGCTTACCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02818.hp2 others(3): Show HG02451.hp2 HG02559.hp2 HG02818.hp2 HG02886.hp1 NA19030.hp2 NA21309.hp2	a0001 a0040 a0049 others(1): Show a0001 a0040 a0049 a0092	a0001c0001 a0040c0065 a0049c0122 others(1): Show a0001c0001 a0040c0065 a0049c0122 a0092c0070	a0001c0001t0001 a0001c0001t0009 a0040c0065t0043 others(2): Show a0001c0001t0001 a0001c0001t0009 a0040c0065t0043 a0049c0122t0009 a0092c0070t0029	a0001c0001t0001g0257 a0001c0001t0009g0152 a0001c0001t0009g0202 others(3): Show a0001c0001t0001g0257 a0001c0001t0009g0152 a0001c0001t0009g0202 a0040c0065t0043g0108 a0049c0122t0009g0244 a0092c0070t0029g0291	6	292	0.0206	-44	c.74 others(55): Show c.7410_*7453delAAGGTAAGCCCTGTCTGTCTCCTGGGACCCCTCT CCAGCTGAGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding		4876		chr1	TogoVar

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