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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
MCRIP1_chr17_81817361_81838291	81818737	CATAGTGA others(31): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03098.hp1 others(1): Show HG01884.hp1 HG02055.hp2 HG03098.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0002g0059 a0001c0001t0003g0013 others(1): Show a0001c0001t0001g0089 a0001c0001t0002g0059 a0001c0001t0003g0013 a0001c0001t0003g0063	4	366	0.0109	-38	c.44 others(49): Show c.4472_*4509delCTGCCGTGTAGTGTTGGCGTGCACACACAAGTCA CTAT	MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding		3623		chr17	TogoVar
MCTP2_chr15_94226561_94488952	94244190	GTTTATAT others(31): Show GTTTATATACACGTGTATACACATACATATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01255.hp1 HG01256.hp2 HG00099.hp1 HG01255.hp1 HG01256.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0041 a0001c0002t0001 a0002c0003t0029 a0001c0001t0041 a0001c0002t0001 a0002c0003t0029	a0001c0001t0041g0138 a0001c0002t0001g0137 a0002c0003t0029g0139 a0001c0001t0041g0138 a0001c0002t0001g0137 a0002c0003t0029g0139	3	276	0.0109	-38	c.-66 others(57): Show c.-66+12551_-66+12588delCATATGTGTATATATTTATATACACG TGTATACACATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244226	ATATTTAT others(31): Show ATATTTATATACACGTGTATACACATATGTGTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0036 a0001c0002t0019g0036	1	276	0.0036	-38	c.-66 others(57): Show c.-66+12566_-66+12603delTTATATACACGTGTATACACATATGT GTATATATTTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244912	ATGTTTAT others(31): Show ATGTTTATATACGTATATGTATACACATACATATGCACC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	276	0.0036	-38	c.-66 others(57): Show c.-66+13326_-66+13363delGTTTATATACGTATATGTATACACAT ACATATGCACCT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390052	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp1 HG02257.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0162 a0001c0002t0006g0025 a0001c0002t0001g0162 a0001c0002t0006g0025	2	276	0.0073	-38	c.178 others(57): Show c.1788+4551_1788+4588delATATATATATATATGTATATATATAT ATATATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390076	ATATATAT others(31): Show ATATATATATATATGTATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG04115.hp1 HG01123.hp1 HG01255.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0005 a0002c0003t0029 a0001c0002t0001 a0002c0003t0005 a0002c0003t0029	a0001c0002t0001g0243 a0002c0003t0005g0040 a0002c0003t0029g0139 a0001c0002t0001g0243 a0002c0003t0005g0040 a0002c0003t0029g0139	3	276	0.0109	-38	c.178 others(57): Show c.1788+4565_1788+4602delGTATATATATATATATATATATATGT ATATATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 NA18906.hp1 HG01884.hp2 HG02451.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118	3	210	0.0143	-38	c.151 others(57): Show c.151-30322_151-30285delTATATATATATATATATATATATATA TATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDGA1_chr6_37625679_37702883	37698156	TTCTCTTT others(31): Show TTCTCTTTCTCTTTCTCTTTCTCTTTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0037 a0001c0001t0057g0037	1	402	0.0025	-38	c.-13 others(49): Show c.-1383_-1346delGAGAGAGAGAGAGAAAGAGAAAGAGAAAGAGAAA GAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		274		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47286803	TTATATAT others(31): Show TTATATATATATATATATATATACATATATATATGTATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01175.hp1 others(5): Show HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01358.hp1 HG02647.hp2 HG03195.hp2 HG03579.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0005t0001 a0001c0005t0007	a0001c0001t0004g0016 a0001c0001t0007g0021 a0001c0001t0012g0019 others(5): Show a0001c0001t0004g0016 a0001c0001t0007g0021 a0001c0001t0012g0019 a0001c0001t0016g0002 a0001c0001t0021g0030 a0001c0001t0022g0031 a0001c0005t0001g0064 a0001c0005t0007g0024	8	120	0.0667	-38	c.420 others(57): Show c.420+14570_420+14607delTATACATATATATATGTATATATATA TATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18986.hp1 HG00423.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0040 a0002c0002t0002g0042	2	398	0.0050	-38	c.-18 others(49): Show c.-1886_-1849delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046311	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	398	0.0025	-38	c.-18 others(49): Show c.-1849_-1812delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC GCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1794		chr7	TogoVar
MDP1_chr14_24208943_24221066	24212174	ACCTCCGC others(31): Show ACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0023 a0004c0005t0004g0023	1	404	0.0025	-38	c.18 others(49): Show c.1812_*1849delCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCG GAGG	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding		1768		chr14	TogoVar
MEAK7_chr16_84471355_84509659	84479390	GCTAATGC others(31): Show GCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(100): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0009 a0015 a0016	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0017 a0001c0018 a0001c0027 a0002c0003 a0002c0008 a0002c0015 a0003c0004 a0006c0009 a0007c0012 a0009c0037 a0015c0022 a0016c0025	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(45): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0053 a0001c0001t0070 a0001c0001t0147 a0001c0001t0185 a0001c0001t0186 a0001c0001t0191 a0001c0001t0192 a0001c0001t0215 a0001c0002t0003 a0001c0002t0004 a0001c0002t0022 a0001c0002t0063 a0001c0002t0110 a0001c0002t0143 a0001c0002t0146 a0001c0002t0188 a0001c0002t0189 a0001c0002t0190 a0001c0005t0003 a0001c0005t0064 a0001c0005t0071 a0001c0005t0140 a0001c0017t0022 a0001c0018t0024 a0001c0027t0029 a0002c0003t0007 a0002c0003t0029 a0002c0003t0047 a0002c0003t0062 a0002c0008t0020 a0002c0008t0218 a0002c0008t0227 a0002c0015t0193 a0003c0004t0041 a0003c0004t0187 a0006c0009t0079 a0006c0009t0080 a0006c0009t0090 a0007c0012t0037 a0009c0037t0114 a0015c0022t0007 a0016c0025t0004	a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0042 others(99): Show a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0078 a0001c0001t0003g0099 a0001c0001t0003g0244 a0001c0001t0004g0079 a0001c0001t0004g0272 a0001c0001t0004g0306 a0001c0001t0017g0149 a0001c0001t0017g0150 a0001c0001t0017g0151 a0001c0001t0017g0167 a0001c0001t0017g0174 a0001c0001t0022g0170 a0001c0001t0022g0173 a0001c0001t0024g0137 a0001c0001t0024g0212 a0001c0001t0030g0345 a0001c0001t0030g0346 a0001c0001t0030g0371 a0001c0001t0053g0435 a0001c0001t0053g0436 a0001c0001t0070g0246 a0001c0001t0147g0230 a0001c0001t0185g0394 a0001c0001t0186g0165 a0001c0001t0191g0266 a0001c0001t0192g0401 a0001c0001t0215g0091 a0001c0002t0003g0409 a0001c0002t0004g0025 a0001c0002t0004g0097 a0001c0002t0004g0105 a0001c0002t0004g0282 a0001c0002t0004g0297 a0001c0002t0004g0300 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0316 a0001c0002t0004g0393 a0001c0002t0004g0407 a0001c0002t0022g0202 a0001c0002t0063g0289 a0001c0002t0063g0290 a0001c0002t0110g0278 a0001c0002t0143g0328 a0001c0002t0146g0301 a0001c0002t0188g0366 a0001c0002t0189g0286 a0001c0002t0190g0317 a0001c0005t0003g0039 a0001c0005t0003g0040 a0001c0005t0003g0360 a0001c0005t0003g0361 a0001c0005t0064g0038 a0001c0005t0064g0362 a0001c0005t0071g0410 a0001c0005t0140g0433 a0001c0017t0022g0201 a0001c0018t0024g0209 a0001c0027t0029g0324 a0002c0003t0007g0006 a0002c0003t0007g0067 a0002c0003t0007g0072 a0002c0003t0007g0073 a0002c0003t0007g0074 a0002c0003t0007g0095 a0002c0003t0007g0096 a0002c0003t0007g0139 a0002c0003t0007g0191 a0002c0003t0007g0227 a0002c0003t0029g0076 a0002c0003t0029g0077 a0002c0003t0047g0380 a0002c0003t0047g0381 a0002c0003t0062g0147 a0002c0003t0062g0382 a0002c0008t0020g0373 a0002c0008t0020g0386 a0002c0008t0020g0388 a0002c0008t0020g0426 a0002c0008t0218g0387 a0002c0008t0227g0445 a0002c0015t0193g0071 a0003c0004t0041g0428 a0003c0004t0041g0429 a0003c0004t0187g0327 a0006c0009t0079g0029 a0006c0009t0080g0030 a0006c0009t0090g0204 a0007c0012t0037g0334 a0007c0012t0037g0370 a0009c0037t0114g0389 a0015c0022t0007g0193 a0016c0025t0004g0186	103	468	0.2201	-38	c.48 others(47): Show c.485_*522delGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATT AG	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8	485		chr16	TogoVar
MECOM_chr3_169078507_169668712	169191702	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp1 HG02109.hp2 others(11): Show HG00438.hp2 HG01243.hp1 HG02109.hp2 HG02258.hp2 HG02717.hp1 HG03225.hp2 HG03516.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA19002.hp2 NA19030.hp1 NA19060.hp2 NA19070.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0010 a0006c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0003t0002 a0001c0004t0009 a0001c0004t0052 a0002c0002t0007 a0002c0002t0035 a0002c0010t0014 a0006c0015t0022	a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0004g0067 others(11): Show a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0004g0067 a0001c0001t0010g0080 a0001c0001t0013g0050 a0001c0001t0017g0112 a0001c0001t0019g0013 a0001c0003t0002g0075 a0001c0004t0009g0144 a0001c0004t0052g0158 a0002c0002t0007g0131 a0002c0002t0035g0026 a0002c0010t0014g0149 a0006c0015t0022g0001	14	160	0.0875	-38	c.376 others(57): Show c.376-47908_376-47871delCTTTCTTTCTTTCTTTCTTTTTTTCT TTCTTTCTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151319450	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0179 a0001c0004t0023g0179	1	280	0.0036	-38	c.225 others(59): Show c.2251-30591_2251-30554delCGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116031729	AGAAAAGA others(31): Show AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	254	0.0039	-38	c.480 others(55): Show c.480-9166_480-9129delCTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED16_chr19_862963_898187	870419	GGTGTGGT others(31): Show GGTGTGGTGGCTCATGCCTGTAATCCCAGCTACTGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	56	0.0179	-38	c.231 others(55): Show c.2315+580_2315+617delTTCCCAGTAGCTGGGATTACAGGCATGA GCCACCACAC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	13/15			chr19	TogoVar
MEGF6_chr1_3482951_3616508	3572309	GGGTGTGC others(31): Show GGGTGTGCTGGGTCCTCCTGGGTGTGCTGGGTTCTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01070.hp1 others(94): Show HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(50): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0018 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0035 a0039 a0040 a0044 a0045 a0046 a0047 a0048 a0051 a0052 a0053 a0056 a0057 a0062 a0064 a0069 a0070 a0071 a0072 a0076 a0078 a0081 a0084 a0085 a0086 a0088 a0089 a0090 a0092 a0095 a0096 a0097 a0098	a0001c0001 a0001c0007 a0002c0002 others(65): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0003c0095 a0003c0114 a0004c0004 a0004c0105 a0006c0006 a0006c0029 a0007c0008 a0007c0106 a0008c0021 a0008c0038 a0008c0040 a0008c0108 a0009c0009 a0009c0107 a0011c0067 a0012c0010 a0014c0017 a0018c0013 a0021c0022 a0022c0032 a0023c0034 a0024c0030 a0024c0072 a0025c0125 a0025c0126 a0027c0036 a0028c0039 a0029c0118 a0029c0119 a0035c0077 a0035c0088 a0039c0056 a0040c0065 a0040c0068 a0044c0026 a0045c0124 a0046c0128 a0047c0127 a0048c0123 a0051c0093 a0052c0096 a0053c0109 a0056c0094 a0057c0098 a0062c0092 a0064c0113 a0069c0082 a0070c0090 a0071c0089 a0072c0084 a0076c0091 a0078c0058 a0081c0061 a0084c0064 a0085c0055 a0086c0062 a0088c0073 a0089c0074 a0090c0069 a0092c0070 a0095c0048 a0096c0053 a0097c0054 a0098c0052	a0001c0001t0001 a0001c0001t0009 a0001c0007t0010 others(79): Show a0001c0001t0001 a0001c0001t0009 a0001c0007t0010 a0002c0002t0001 a0002c0002t0007 a0002c0002t0045 a0003c0003t0001 a0003c0003t0009 a0003c0003t0040 a0003c0095t0001 a0003c0114t0001 a0004c0004t0002 a0004c0004t0007 a0004c0105t0002 a0006c0006t0001 a0006c0029t0020 a0007c0008t0001 a0007c0008t0014 a0007c0106t0007 a0008c0021t0001 a0008c0038t0001 a0008c0040t0011 a0008c0040t0059 a0008c0108t0023 a0009c0009t0005 a0009c0009t0012 a0009c0009t0029 a0009c0009t0036 a0009c0107t0005 a0011c0067t0003 a0012c0010t0001 a0014c0017t0015 a0014c0017t0038 a0018c0013t0020 a0021c0022t0012 a0021c0022t0037 a0022c0032t0008 a0023c0034t0004 a0024c0030t0030 a0024c0072t0013 a0025c0125t0001 a0025c0126t0010 a0027c0036t0026 a0027c0036t0027 a0028c0039t0031 a0029c0118t0002 a0029c0119t0008 a0035c0077t0005 a0035c0088t0005 a0039c0056t0062 a0040c0065t0043 a0040c0068t0032 a0044c0026t0001 a0045c0124t0003 a0046c0128t0008 a0047c0127t0022 a0048c0123t0054 a0051c0093t0013 a0052c0096t0007 a0053c0109t0011 a0056c0094t0017 a0057c0098t0003 a0062c0092t0022 a0064c0113t0056 a0069c0082t0001 a0070c0090t0023 a0071c0089t0027 a0072c0084t0044 a0076c0091t0005 a0078c0058t0001 a0081c0061t0003 a0084c0064t0035 a0085c0055t0005 a0086c0062t0011 a0088c0073t0031 a0089c0074t0008 a0090c0069t0004 a0092c0070t0029 a0095c0048t0008 a0096c0053t0026 a0097c0054t0049 a0098c0052t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0238 others(94): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0238 a0001c0001t0001g0257 a0001c0001t0009g0152 a0001c0007t0010g0203 a0002c0002t0001g0076 a0002c0002t0007g0197 a0002c0002t0045g0102 a0003c0003t0001g0025 a0003c0003t0009g0109 a0003c0003t0040g0171 a0003c0095t0001g0075 a0003c0114t0001g0255 a0004c0004t0002g0097 a0004c0004t0002g0103 a0004c0004t0002g0104 a0004c0004t0002g0105 a0004c0004t0002g0106 a0004c0004t0002g0179 a0004c0004t0007g0099 a0004c0105t0002g0101 a0006c0006t0001g0166 a0006c0029t0020g0283 a0007c0008t0001g0132 a0007c0008t0001g0133 a0007c0008t0014g0002 a0007c0106t0007g0010 a0008c0021t0001g0017 a0008c0038t0001g0072 a0008c0040t0011g0206 a0008c0040t0059g0277 a0008c0108t0023g0003 a0009c0009t0005g0153 a0009c0009t0005g0242 a0009c0009t0012g0261 a0009c0009t0012g0262 a0009c0009t0029g0270 a0009c0009t0036g0246 a0009c0107t0005g0005 a0011c0067t0003g0008 a0012c0010t0001g0178 a0014c0017t0015g0234 a0014c0017t0015g0237 a0014c0017t0015g0247 a0014c0017t0038g0236 a0018c0013t0020g0289 a0021c0022t0012g0233 a0021c0022t0012g0254 a0021c0022t0037g0004 a0022c0032t0008g0089 a0023c0034t0004g0088 a0023c0034t0004g0090 a0024c0030t0030g0269 a0024c0072t0013g0252 a0025c0125t0001g0065 a0025c0126t0010g0067 a0027c0036t0026g0245 a0027c0036t0027g0204 a0028c0039t0031g0286 a0029c0118t0002g0048 a0029c0119t0008g0087 a0035c0077t0005g0086 a0035c0088t0005g0070 a0039c0056t0062g0268 a0040c0065t0043g0108 a0040c0068t0032g0274 a0044c0026t0001g0030 a0045c0124t0003g0064 a0046c0128t0008g0066 a0047c0127t0022g0071 a0048c0123t0054g0068 a0051c0093t0013g0235 a0052c0096t0007g0229 a0053c0109t0011g0231 a0056c0094t0017g0232 a0057c0098t0003g0251 a0062c0092t0022g0186 a0064c0113t0056g0279 a0069c0082t0001g0177 a0070c0090t0023g0264 a0071c0089t0027g0265 a0072c0084t0044g0006 a0076c0091t0005g0263 a0078c0058t0001g0122 a0081c0061t0003g0100 a0084c0064t0035g0001 a0085c0055t0005g0239 a0086c0062t0011g0147 a0088c0073t0031g0290 a0089c0074t0008g0240 a0090c0069t0004g0249 a0092c0070t0029g0291 a0095c0048t0008g0091 a0096c0053t0026g0011 a0097c0054t0049g0007 a0098c0052t0001g0074	97	292	0.3322	-38	c.481 others(55): Show c.481+7478_481+7515delTGAGAGAACCCAGCACACCCAGGAGGAC CCAGCACACC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
METAP1D_chr2_171994953_172087430	172042228	CATATACA others(31): Show CATATACATATGTATGTGTACATGTGTACACATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG02622.hp2 others(1): Show HG00099.hp1 HG01981.hp1 HG02622.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0025 others(1): Show a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0037	4	356	0.0112	-38	c.41- others(55): Show c.41-19259_41-19222delGTATGTGTACATGTGTACACATATACAT ATATACATAT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172042370	CATGTGTA others(31): Show CATGTGTACATATATACATATATACATATATACATATGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(92): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19074.hp2 NA19078.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0005 others(1): Show a0001c0001 a0001c0003 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0003t0006 a0003c0005t0003 a0004c0004t0001	a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0101 others(92): Show a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0199 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0311 a0001c0001t0001g0334 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0002g0100 a0001c0001t0002g0147 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0294 a0001c0001t0002g0300 a0001c0001t0002g0308 a0001c0001t0003g0051 a0001c0001t0003g0072 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0139 a0001c0001t0003g0156 a0001c0001t0003g0208 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0254 a0001c0001t0003g0275 a0001c0001t0003g0303 a0001c0001t0004g0160 a0001c0001t0004g0264 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0292 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0346 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0140 a0001c0001t0005g0148 a0001c0001t0005g0281 a0001c0001t0007g0261 a0001c0001t0010g0283 a0001c0001t0018g0015 a0001c0003t0006g0157 a0001c0003t0006g0299 a0001c0003t0006g0354 a0003c0005t0003g0038 a0004c0004t0001g0347	95	356	0.2669	-38	c.41- others(55): Show c.41-19117_41-19080delATATACATATATACATATATACATATGT ATGTGTACAT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172042647	GTATGTGT others(31): Show GTATGTGTATATGTGTACACATATACGTGTGTATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02145.hp2 HG02647.hp1 others(5): Show HG00438.hp1 HG02145.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 others(5): Show a0001c0001t0001g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0003g0127 a0001c0001t0004g0112 a0001c0001t0004g0117 a0001c0001t0004g0170 a0001c0001t0010g0283	8	356	0.0225	-38	c.41- others(55): Show c.41-18842_41-18805delTATGTGTACACATATACGTGTGTATGTG TATATGTGTA	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1_chr4_98990721_99067809	99004444	GATACACA others(31): Show GATACACACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00621.hp1 others(78): Show HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp1 NA18972.hp1 NA18979.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19065.hp2 NA19072.hp1 NA19077.hp2 NA19084.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0013 others(64): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0244 a0001c0001t0002g0267	81	338	0.2396	-38	c.114 others(55): Show c.114+8609_114+8646delCACACACATACACACACACACACACACA CACACACACA	METAP1	ENSG00000164024.12	transcript	ENST00000296411.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
MFSD14B_chr9_94369569_94466042	94452640	TATATATT others(31): Show TATATATTCATATATATTCATATATATTCATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00639.hp2 others(87): Show HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02148.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp2 NA18978.hp1 NA18979.hp1 NA18990.hp2 NA19004.hp1 NA19009.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19070.hp1 NA19079.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0003t0004	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0029 others(87): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0189 a0001c0001t0003g0337 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0313 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0032 a0001c0001t0005g0075 a0001c0001t0005g0314 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0007g0336 a0001c0001t0007g0338 a0001c0001t0010g0026 a0001c0001t0010g0048 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0015g0006 a0001c0001t0018g0041 a0001c0001t0020g0332 a0001c0003t0004g0068	90	350	0.2571	-38	c.915 others(55): Show c.915+1138_915+1175delATTCATATATATTCATATATTCATATAT ATTCATATAT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
MGAM_chr7_141990879_142111747	142045031	CACGTGTA others(31): Show CACGTGTAATATATGATATATAATATGTATATTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0283 a0001c0015t0001g0283	1	316	0.0032	-38	c.249 others(57): Show c.2499-2710_2499-2673delTAATATATGATATATAATATGTATAT TATATATACGTG	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGST1_chr12_16342645_16369410	16366626	TGTACACA others(31): Show TGTACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18939.hp1 NA18964.hp2 others(3): Show HG00597.hp1 NA18939.hp1 NA18964.hp2 NA18975.hp2 NA19011.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0004g0120 others(3): Show a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0004g0120 a0001c0001t0004g0128 a0001c0001t0004g0271 a0001c0001t0004g0273	6	462	0.0130	-38	c.25 others(49): Show c.2586_*2623delGTACACACACACACACACACACACACACACACAC ACAC	MGST1	ENSG00000008394.13	transcript	ENST00000396210.8	protein_coding		2217		chr12	TogoVar
MIA2_chr14_39228915_39355694	39277682	ATATATGT others(31): Show ATATATGTGTGTATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01952.hp1 HG01981.hp1 others(8): Show HG00738.hp2 HG01952.hp1 HG01981.hp1 HG02055.hp1 HG02683.hp1 HG03453.hp2 HG03516.hp1 NA18941.hp1 NA18970.hp2 NA18977.hp1 NA20752.hp2	a0002 a0004 a0013 others(2): Show a0002 a0004 a0013 a0014 a0016	a0002c0001 a0004c0013 a0013c0015 others(2): Show a0002c0001 a0004c0013 a0013c0015 a0014c0016 a0016c0022	a0002c0001t0002 a0004c0013t0002 a0013c0015t0002 others(2): Show a0002c0001t0002 a0004c0013t0002 a0013c0015t0002 a0014c0016t0002 a0016c0022t0002	a0002c0001t0002g0024 a0002c0001t0002g0026 a0002c0001t0002g0035 others(8): Show a0002c0001t0002g0024 a0002c0001t0002g0026 a0002c0001t0002g0035 a0002c0001t0002g0053 a0002c0001t0002g0054 a0002c0001t0002g0093 a0004c0013t0002g0126 a0004c0013t0002g0138 a0013c0015t0002g0066 a0014c0016t0002g0248 a0016c0022t0002g0103	11	368	0.0299	-38	c.201 others(55): Show c.2019+623_2019+660delGTGTGTATATATATATATATATATATAT GTGTGTATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICU1_chr10_72362340_72631079	72500276	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01257.hp1 others(11): Show HG00609.hp2 HG01074.hp1 HG01257.hp1 HG02257.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp1 NA18959.hp2 NA18963.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0092 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0004t0003g0009	14	208	0.0673	-38	c.652 others(55): Show c.652+7841_652+7878delAAAAAAAAAAAATATATATATATATATA TATATATATA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72500278	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	208	0.0048	-38	c.652 others(55): Show c.652+7839_652+7876delAAAAAAAAAAAAAATATATATATATATA TATATATATA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72500280	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18971.hp1 HG02080.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0127 a0001c0001t0003g0128	2	208	0.0096	-38	c.652 others(55): Show c.652+7837_652+7874delAAAAAAAAAAAAAAAATATATATATATA TATATATATA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11			chr10	TogoVar
MIER2_chr19_300573_349796	300694	AGACTGTG others(31): Show AGACTGTGGGTCACCCATGGCCGTGACACCAGTGACAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	384	0.0026	-38	c.59 others(49): Show c.5958_*5995delACTGTCACTGGTGTCACGGCCATGGGTGACCCAC AGTC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4878		chr19	TogoVar
MIGA2_chr9_129031626_129077082	129072187	TCAGGAGA others(31): Show TCAGGAGAAGCCTGGTGGGGGCTGTGATCCTACTTGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	300	0.0033	-38	c.17 others(49): Show c.1735_*1772delCAGGAGAAGCCTGGTGGGGGCTGTGATCCTACTT GGGG	MIGA2	ENSG00000148343.19	transcript	ENST00000684074.1	protein_coding		106		chr9	TogoVar
MINAR1_chr15_79427336_79477304	79439316	GATGAGAT others(31): Show GATGAGATGTGGGTGGGGTAGGCAGTGTGTGTGTGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(38): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG01928.hp2 HG01943.hp1 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02523.hp1 HG02683.hp2 HG02970.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp2 HG04204.hp1 NA18940.hp2 NA18948.hp2 NA18949.hp1 NA18961.hp1 NA18967.hp1 NA18974.hp2 NA19000.hp1 NA19001.hp2 NA19010.hp1 NA19068.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0011 a0013	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005 a0005c0010 a0011c0022 a0013c0027	a0001c0001t0001 a0001c0001t0019 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0002 a0001c0002t0023 a0001c0004t0004 a0001c0004t0026 a0001c0004t0028 a0002c0003t0003 a0003c0005t0003 a0003c0005t0006 a0005c0010t0020 a0011c0022t0022 a0013c0027t0006	a0001c0001t0001g0028 a0001c0001t0001g0110 a0001c0001t0001g0191 others(36): Show a0001c0001t0001g0028 a0001c0001t0001g0110 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0019g0261 a0001c0001t0019g0288 a0001c0002t0002g0206 a0001c0002t0023g0177 a0001c0004t0004g0023 a0001c0004t0004g0164 a0001c0004t0004g0167 a0001c0004t0004g0170 a0001c0004t0004g0252 a0001c0004t0026g0163 a0001c0004t0028g0160 a0002c0003t0003g0001 a0003c0005t0003g0248 a0003c0005t0006g0041 a0003c0005t0006g0042 a0003c0005t0006g0043 a0003c0005t0006g0044 a0003c0005t0006g0046 a0003c0005t0006g0047 a0003c0005t0006g0048 a0005c0010t0020g0242 a0005c0010t0020g0314 a0011c0022t0022g0049 a0013c0027t0006g0045	41	390	0.1051	-38	c.-51 others(55): Show c.-51+6814_-51+6851delAATGAGATGTGGGTGGGGTAGGCAGTGT GTGTGTGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MKRN1_chr7_140448033_140484505	140474003	AAAAAAGA others(31): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00642.hp1 others(96): Show HG00099.hp2 HG00423.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01261.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18948.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA19003.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19066.hp1 NA19077.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0002 a0001c0004 a0001c0007 others(3): Show a0001c0002 a0001c0004 a0001c0007 a0003c0005 a0004c0006 a0008c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0004t0002 a0001c0007t0001 a0003c0005t0001 a0004c0006t0002 a0008c0012t0008	a0001c0002t0001g0029 a0001c0002t0001g0342 a0001c0002t0001g0343 others(82): Show a0001c0002t0001g0029 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0373 a0001c0002t0001g0380 a0001c0002t0001g0381 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0372 a0001c0002t0002g0374 a0001c0002t0007g0391 a0001c0004t0002g0024 a0001c0004t0002g0310 a0001c0004t0002g0318 a0001c0004t0002g0323 a0001c0007t0001g0387 a0001c0007t0001g0388 a0001c0007t0001g0389 a0003c0005t0001g0368 a0003c0005t0001g0369 a0003c0005t0001g0370 a0003c0005t0001g0371 a0004c0006t0002g0384 a0004c0006t0002g0385 a0004c0006t0002g0386 a0008c0012t0008g0031	99	434	0.2281	-38	c.186 others(55): Show c.186-2030_186-1993delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTT	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/7			chr7	TogoVar
MLPH_chr2_237482251_237560322	237543472	TGGGGGCA others(31): Show TGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0015 a0005c0004t0004g0015	1	286	0.0035	-38	c.153 others(55): Show c.1539+818_1539+855delGCACGGTAGTGACTGGGGCGACAGTGGT GAGTGGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544550	CACTTTAG others(31): Show CACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0074 a0012c0013t0001g0074	1	286	0.0035	-38	c.153 others(57): Show c.1539+1893_1539+1930delCTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545064	CACTATTG others(31): Show CACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 NA21309.hp1 HG02647.hp2 HG03540.hp2 NA21309.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0003 a0013c0017t0010 a0013c0017t0003 a0013c0017t0010	a0013c0017t0003g0005 a0013c0017t0003g0006 a0013c0017t0010g0253 a0013c0017t0003g0005 a0013c0017t0003g0006 a0013c0017t0010g0253	3	286	0.0105	-38	c.154 others(57): Show c.1540-1540_1540-1503delCTATTGGTAGGGGGGACAATTATTGG GGGGGGGCACTA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP16_chr8_88027011_88332483	88326387	AGAGTGTG others(31): Show AGAGTGTGAAATCAAATTAAAAACACACCTCAAAACTAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	186	0.0054	-38	c.132 others(53): Show c.132+650_132+687delATAGTTTTGAGGTGTGTTTTTAATTTGATT TCACACTC	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	1/9			chr8	TogoVar
MMP17_chr12_131823393_131856771	131832088	TGGGGGGG others(31): Show TGGGGGGGACGGGAAGGGGGAAGGCTGGAGAGGATCTGG	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0107 a0001c0003t0003g0107	1	398	0.0025	-38	c.159 others(55): Show c.159+3442_159+3479delGACGGGAAGGGGGAAGGCTGGAGAGGAT CTGGGGGGGG	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMP24_chr20_35221690_35281998	35252815	ACAGGCTC others(31): Show ACAGGCTCAGGTGGGGCTGGGGCAAGGGCCAGGCATGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp2 HG02572.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0267 a0001c0001t0005g0295 a0001c0001t0003g0267 a0001c0001t0005g0295	2	320	0.0063	-38	c.512 others(53): Show c.512+862_512+899delAGGCATGGGCAGGCTCAGGTGGGGCTGGGG CAAGGGCC	MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
MMP24_chr20_35221690_35281998	35252921	CGGCATGG others(31): Show CGGCATGGGCAGGCTCAGGTGGGGCTGGGGCAAGGGCCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp2 HG00741.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0128 a0001c0001t0004g0025 a0001c0001t0004g0128	2	320	0.0063	-38	c.512 others(55): Show c.512+1068_512+1105delAGGTGGGGCTGGGGCAAGGGCCAGGCAT GGGCAGGCTC	MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
MMP24_chr20_35221690_35281998	35253089	AGGTGGGG others(31): Show AGGTGGGGCTGGGGCAAGGGCCAGGCATGGGCAGGCTCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02258.hp2 others(16): Show HG01884.hp1 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02895.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 a0001c0001t0023 a0007c0017t0002	a0001c0001t0001g0157 a0001c0001t0002g0061 a0001c0001t0002g0068 others(16): Show a0001c0001t0001g0157 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0140 a0001c0001t0009g0065 a0001c0001t0009g0148 a0001c0001t0009g0149 a0001c0001t0021g0066 a0001c0001t0023g0078 a0007c0017t0002g0152	19	320	0.0594	-38	c.512 others(55): Show c.512+1075_512+1112delGCTGGGGCAAGGGCCAGGCATGGGCAGG CTCGGGTGGG	MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
MMP8_chr11_102706796_102729954	102728767	GCAGCCAG others(31): Show GCAGCCAGAATGGACTGAGCTCCACTCCAGCTACTGAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	458	0.0022	-38	c.-39 others(49): Show c.-3950_-3913delATTCAGTAGCTGGAGTGGAGCTCAGTCCATTCTG GCTG	MMP8	ENSG00000118113.12	transcript	ENST00000236826.8	protein_coding		3814		chr11	TogoVar
MOXD1_chr6_132291055_132406475	132349398	TATATATA others(31): Show TATATATACATATATATATATATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02135.hp2 HG02486.hp1 others(6): Show HG00673.hp1 HG02135.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 NA18954.hp1 NA19063.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0224 others(6): Show a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0224 a0001c0001t0001g0253 a0001c0001t0001g0286 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0295 a0001c0002t0001g0304	9	318	0.0283	-38	c.664 others(57): Show c.664-20842_664-20805delGTATATATATATATGTATATATATAT ATATGTATATAT	MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	4/11			chr6	TogoVar
MPDZ_chr9_13100707_13284692	13103031	CATTGTAC others(31): Show CATTGTACGGCATTCTCAGACAATAAACTAGCTGAGCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	302	0.0033	-38	c.38 others(49): Show c.3896_*3933delTTGCTCAGCTAGTTTATTGTCTGAGAATGCCGTA CAAT	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding		2675		chr9	TogoVar
MPP7_chr10_28045993_28308064	28132889	CACCTAGT others(31): Show CACCTAGTGCATATCCTATTAAATCTGCTTCCAAAATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp2 others(50): Show HG00323.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0029 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0038 others(50): Show a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0012g0174 a0001c0001t0012g0175 a0001c0001t0013g0189 a0001c0001t0013g0190 a0001c0001t0029g0177 a0001c0002t0001g0287 a0001c0002t0005g0159 a0001c0002t0005g0161 a0001c0002t0005g0162 a0001c0002t0005g0292	53	300	0.1767	-38	c.316 others(55): Show c.316-1236_316-1199delATATTTTGGAAGCAGATTTAATAGGATA TGCACTAGGT	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	5/16			chr10	TogoVar
MRAP2_chr6_84028772_84095881	84084894	TTTTATTT others(31): Show TTTTATTTTATTTTATTTTATTTATTTATTTTATTTTAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00673.hp2 others(35): Show HG00408.hp2 HG00438.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02129.hp2 HG02165.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03492.hp2 HG03654.hp1 HG03942.hp1 NA18940.hp1 NA18961.hp2 NA18967.hp1 NA18971.hp1 NA18979.hp2 NA18990.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19057.hp1 NA19065.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0007 others(2): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0012 a0001c0003t0013	a0001c0001t0001g0216 a0001c0003t0002g0002 a0001c0003t0002g0003 others(29): Show a0001c0001t0001g0216 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0008 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0027 a0001c0003t0002g0038 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0069 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0098 a0001c0003t0002g0113 a0001c0003t0002g0125 a0001c0003t0002g0128 a0001c0003t0002g0136 a0001c0003t0002g0162 a0001c0003t0002g0180 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0219 a0001c0003t0007g0199 a0001c0003t0012g0003 a0001c0003t0013g0010	38	272	0.1397	-38	c.228 others(55): Show c.228-4174_228-4137delATTTATTTTATTTTACTTTATTTTATTT TATTTTATTT	MRAP2	ENSG00000135324.6	transcript	ENST00000257776.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MROH1_chr8_144143016_144266926	144167429	TGTTGGGT others(31): Show TGTTGGGTGGAGTGGCCGGTTGTTGTGGTGGAGTGGCCA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02559.hp2 others(4): Show HG02145.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG03098.hp1 HG03130.hp1 NA18522.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0004 a0002c0007 a0002c0013 others(2): Show a0002c0004 a0002c0007 a0002c0013 a0005c0014 a0007c0012	a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 others(2): Show a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 a0005c0014t0001 a0007c0012t0001	a0002c0004t0001g0001 a0002c0004t0001g0004 a0002c0004t0001g0023 others(4): Show a0002c0004t0001g0001 a0002c0004t0001g0004 a0002c0004t0001g0023 a0002c0007t0001g0003 a0002c0013t0001g0022 a0005c0014t0001g0002 a0007c0012t0001g0024	7	140	0.0500	-38	c.23- others(51): Show c.23-859_23-822delTGGAGTGGCCGGTTGTTGTGGTGGAGTGGCCA GTTGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	3/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233790452	CCCTTCCT others(31): Show CCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0062 a0062	a0062c0196 a0062c0196	a0062c0196t0001 a0062c0196t0001	a0062c0196t0001g0184 a0062c0196t0001g0184	1	378	0.0027	-38	c.571 others(53): Show c.571+450_571+487delCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233790571	TCCTTCCT others(31): Show TCCTTCCTCCCTCCCCTCCCCTTTCCCTCACCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0355 a0002c0020t0001g0355	1	378	0.0027	-38	c.571 others(53): Show c.571+561_571+598delTCCTCCCTCCCCTCCCCTTTCCCTCACCTC CCCTCCCT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL22_chr5_154936073_154974411	154974127	ATTGGTGA others(31): Show ATTGGTGAAGATCAATTACTCCCATTTCCCAGTTCAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0168 a0001c0001t0004g0168	1	358	0.0028	-38	c.72 others(49): Show c.7231_*7268delTTGGTGAAGATCAATTACTCCCATTTCCCAGTTC AATT	MRPL22	ENSG00000082515.18	transcript	ENST00000523037.6	protein_coding		4717		chr5	TogoVar

Search by Variant

Search

Search Results (Total: 2603 hits)