Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KREMEN1_chr22_29068035_29151820	29120441	G G	GATGGAAA others(221): Show GATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAG GAGGGAGAGGTGATGATGGAAACAGGGAGGAAGGAGAGGTGATGATGGAA ACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGA TGAAGGAAATGGAGGAGGGAGAGGTGATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0164 a0003c0004t0010g0165 a0003c0004t0010g0164 a0003c0004t0010g0165	2	368	0.0054	228	c.353 others(243): Show c.353-894_353-893insGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAG GGAGAGGTGATGATGGAAACAGGGAGGAAGGAGAGGTGATGATGGAAACA GGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA5_chr20_62304065_62372312	62360491	G G	GTGGGTGG others(221): Show GTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGT GGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGG GTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGGTGGGTGGAGGGAT AGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGAGGGATAG ATGGGTGGGTGGGTGGGTGGAGGGATAGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0078 a0078	a0078c0059 a0078c0059	a0078c0059t0001 a0078c0059t0001	a0078c0059t0001g0033 a0078c0059t0001g0033	1	186	0.0054	228	c.450 others(245): Show c.450+1908_450+1909insTCTATCCCTCCACCCACCCACCCACCCA TCTATCCCTCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCATC TATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCA CCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACC CACCCATCTATCCCTCCACCCACCCATCCACCTATCCATCCACCCACCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LARP1B_chr4_128056312_128216988	128083821	C C	CAGACGGG others(221): Show CAGACGGGGCGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAGCCCCCCCCACCTCCCTC CCGGACAGGGTGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04228.hp2 HG00140.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0244 a0001c0001t0003g0237 a0001c0001t0003g0244	2	336	0.0060	228	c.358 others(245): Show c.358+1516_358+1517insAGACGGGGCGGCTGGCCGGGCGGGGTGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC TGAGCCCCCCCCACCTCCCTCCCGGACAGGGTGGCTGGCCCGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	5/19			chr4	TogoVar
LIPG_chr18_49557057_49604185	49579004	G G	GAGAGGTA others(221): Show GAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTA GAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGA GGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGG TAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTA GAGGTAGAGGTAGAGGTAGAGGTAGAGGT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp2 NA19083.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0050 a0001c0001t0001 a0002c0002t0050	a0001c0001t0001g0092 a0002c0002t0050g0323 a0001c0001t0001g0092 a0002c0002t0050g0323	2	384	0.0052	228	c.794 others(245): Show c.794-2406_794-2405insTAGAGGTAGAGGTAGAGGTAGAGGTAGA GGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGG TAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTA GAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGA GGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	953033	A A	ACACCCAC others(221): Show ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCA AACCAGCCTCTTACACGTCCACACAGACACGGACCCCAAACCAGCCTCCT ACAAGTCCACAGAGACACGGACCCCAAACCAGCCTCCTACATGTCCACAC AGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACACCCACCCCAAA CCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0100 a0001c0020t0001g0100	1	294	0.0034	228	c.503 others(245): Show c.503+1323_503+1324insGGTGTCTGTGTGGACGTGTAGGAGGCTG GTTTGGGGTGGGTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTC TGTGTGGACATGTAGGAGGCTGGTTTGGGGTCCGTGTCTCTGTGGACTTG TAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGGACGTGTAAGAGGCTGGT TTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953288	C C	CACCCACT others(221): Show CACCCACTCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCAA ACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTA CACGTTCACACAGACACCCCAAACCAGCCTCCTGCACATCCACACAGACA CAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACAC CAGCCTCCTACACATCCACACAGACACAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	294	0.0034	228	c.503 others(245): Show c.503+1068_503+1069insCTGTGTCTGTGTGGATGTGTAGGAGGCT GGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCT GTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGTCTGTGTGAACGT GTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGG TTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGAGTGGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953364	G G	GACCCCAA others(221): Show GACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACA CCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAAC CAGCCTCCTGCACGTCCACACAGACACCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0280 a0002c0035t0001g0280	1	294	0.0034	228	c.503 others(243): Show c.503+992_503+993insGGGTGTCTGTGTGGACGTGCAGGAGGCTGG TTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGT GTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAAC GTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCT GGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953735	A A	AACCAGCC others(221): Show AACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACATCCACACAGACACAGACCC GAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTC CTACACGTCCACACAGACACCCACCCCAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0076 a0002c0016t0001g0076	1	294	0.0034	228	c.503 others(243): Show c.503+621_503+622insGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCG GGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTA GGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	954024	C C	CACCCCAA others(221): Show CACCCCAAACCAGCTTCCTACACGTCCACACAGACACAGACCCCAAACCA GCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACG TTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACA CCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACAGACCCCAAAC CAGCTTCCTACACGTTCACACAGACACGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0114 a0002c0054t0001g0114	1	294	0.0034	228	c.503 others(243): Show c.503+332_503+333insCCGTGTCTGTGTGAACGTGTAGGAAGCTGG TTTGGGGTCTGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTGGGT GTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAAC GTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCT GGTTTGGGGTCTGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	954042	T T	TACACGTC others(221): Show TACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACA CAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACC CCACACCAGCCTCCCACACGTTCACACAGACACCCACCCCAAACCAGCCT CCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCCACACGTCCA CACAGACACCCACCCCACACCAGCCTCCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0089	1	294	0.0034	228	c.503 others(243): Show c.503+314_503+315insGGGAGGCTGGTGTGGGGTGGGTGTCTGTGT GGACGTGTGGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGA GGCTGGTTTGGGGTGGGTGTCTGTGTGAACGTGTGGGAGGCTGGTGTGGG GTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGT GTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	960310	T T	TGGATCAC others(221): Show TGGATCACGACCCAGACACAGACTCACGGTGACAACACTGGATCACAACC CAGACACAGACTCACGGTGACAACACTGGATCACGACCCAGACACAGACT CACGGTGACAACACTGGATCACGACCCAGACACAGACTCACGGTGACAAC ACTGGATCACAACCCAGACACCATCTCATGGTGACAACACGGGATCACGA CCCAGACACAGACTCACGGTGACAGCATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0028 a0001c0001 a0007c0028	a0001c0001t0001 a0007c0028t0004 a0001c0001t0001 a0007c0028t0004	a0001c0001t0001g0024 a0007c0028t0004g0017 a0001c0001t0001g0024 a0007c0028t0004g0017	2	294	0.0068	228	c.194 others(245): Show c.194-5645_194-5644insCATGCTGTCACCGTGAGTCTGTGTCTGG GTCGTGATCCCGTGTTGTCACCATGAGATGGTGTCTGGGTTGTGATCCAG TGTTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCAGTGTTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCAGTGTTGTCACCGTGAGTCTGTGTCT GGGTTGTGATCCAGTGTTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCGGTG others(221): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0320 a0001c0013t0001g0320	1	414	0.0024	228	c.171 others(245): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC128462377_chr16_89312046_89423292	89400640	T T	TGGTCATC others(221): Show TGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 HG03927.hp2 others(1): Show HG00621.hp1 HG02135.hp1 HG03927.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0226 a0001c0001t0000g0341 a0001c0001t0000g0351 others(1): Show a0001c0001t0000g0226 a0001c0001t0000g0341 a0001c0001t0000g0351 a0001c0001t0000g0358	4	366	0.0109	228	c.9+1 others(243): Show c.9+17643_9+17644insGTCCCCCAGCGCAGGGAAGCCTGGGGCAGC AGATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGGCC CCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGGCCCCCAGCGCAGGG AAGCCTGGGGCAGCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCA GCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283522	C C	CACTTACT others(221): Show CACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGC CACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0287 a0001c0001t0011g0287	1	296	0.0034	228	c.368 others(245): Show c.368-2808_368-2807insGGCCCGGGTATGTAGTAAGTAAGTGGCC CGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(221): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0216 a0001c0002t0004g0216	1	290	0.0035	228	c.129 others(247): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC AC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(221): Show TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACC CTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0257 a0001c0002t0003g0257	1	290	0.0035	228	c.129 others(247): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC AC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(221): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	290	0.0035	228	c.129 others(245): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MACROD2_chr20_13990516_16058197	14862568	T T	TAAATATA others(221): Show TAAATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATATAAATATATATAAATATATATATAAATATAAA TATATATAAATATATAAAAATATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	24	0.0417	228	c.418 others(249): Show c.418+177610_418+177611insAATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATATAAATATAAATATATATAAATATATAAAAATATATA TAAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MALRD1_chr10_19043801_19739478	19315162	T T	TAAATATA others(221): Show TAAATATAATTTATATAAATATATAAATATAATTGATAGAAATATAATTT ATATAAATATATAAATATAATTGATAGAAATATAATTTATATAAATATAT AAATATAATTTATAGAAATATAATTTATATAAATATATAAATATAATTTA TAGAAATATAATTTATATAAATATATAAATATAATTTATAGAAATATAAT TTATATAAATATATAAATATAATTTATAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0049 a0049	a0049c0077 a0049c0077	a0049c0077t0001 a0049c0077t0001	a0049c0077t0001g0140 a0049c0077t0001g0140	1	152	0.0066	228	c.342 others(247): Show c.3420-8754_3420-8753insGATAGAAATATAATTTATATAAATAT ATAAATATAATTGATAGAAATATAATTTATATAAATATATAAATATAATT TATAGAAATATAATTTATATAAATATATAAATATAATTTATAGAAATATA ATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAAT ATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAATATAA TT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(221): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0264 a0001c0003t0003g0264	1	362	0.0028	228	c.391 others(243): Show c.391+802_391+803insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579307	C C	CCACCATC others(221): Show CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCATCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	362	0.0028	228	c.391 others(243): Show c.391+814_391+815insTCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(221): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGAGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGA GGGGGGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	163	0.0061	228	c.525 others(245): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCTCCCCTCTCCCCTCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(221): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGAGGGAGGGGGGAGGGGGGA GGGGGGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	163	0.0061	228	c.525 others(245): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCTCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCCCCCCTCTCCCCTCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(221): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTCGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18969.hp1 NA18984.hp1 others(2): Show HG02735.hp2 NA18969.hp1 NA18984.hp1 NA19009.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0008t0012	a0001c0001t0001g0003 a0001c0001t0004g0052 a0001c0001t0004g0057 others(2): Show a0001c0001t0001g0003 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0009g0033 a0001c0008t0012g0026	5	102	0.0490	228	c.111 others(247): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGTTTTGTCGCCGAGGCTGGAGTGCTGTGGCGCGAT CTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTT TT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(221): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp1 HG02451.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0098 a0001c0001t0006g0087 a0001c0001t0006g0098	2	102	0.0196	228	c.111 others(247): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGAT CTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTT TT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894778	T T	TATATATA others(221): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	102	0.0098	228	c.-38 others(247): Show c.-38-40610_-38-40609insGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATATGCATCACATGCATATATAT AT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(221): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	102	0.0098	228	c.-38 others(247): Show c.-38-40740_-38-40739insGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATATGCATCACATGCATATATAT AT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396592	C C	CTATATAT others(221): Show CTATATATATTCACATATATATTCATATATATTCACATATATATATTCAC ATATATATTCACATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATAGATTCATATATAGATTCATATATAGATTCAT ATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATAT ATTCATATATATATTCATATATATATTCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0014 a0001c0001t0004g0015	2	191	0.0105	228	c.343 others(245): Show c.343-4259_343-4258insTGAATATATATATGAATATATATATGAA TATATATATGAATATATATGAATCTATATATGAATATATATGAATCTATA TATGAATCTATATATGAATCTATATATGAATCTATATATATGAATATATA TATGAATATATATATGAATATATATATGAATATATATATGTGAATATATA TGTGAATATATATATGTGAATATATATGAATATATATGTGAATATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396592	C C	CTATATAT others(221): Show CTATATATATTCACATATATATTCATATATATTCACATATATATATTCAC ATATATATTCACATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATATTCATATATAGATTCATATATAGATTCAT ATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATAT ATTCATATATATATTCATATATATATTCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	191	0.0052	228	c.343 others(245): Show c.343-4259_343-4258insTGAATATATATATGAATATATATATGAA TATATATATGAATATATATGAATCTATATATGAATATATATGAATCTATA TATGAATCTATATATGAATCTATATATGAATATATATATATGAATATATA TATGAATATATATATGAATATATATATGAATATATATATGTGAATATATA TGTGAATATATATATGTGAATATATATGAATATATATGTGAATATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396875	T T	TATATTCA others(221): Show TATATTCATATATATATTCATATATATTCATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATATATTCATATATATATTCATATATACATATATATATTCA TATATATATTCATATATATTCATATATAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	191	0.0052	228	c.343 others(245): Show c.343-4542_343-4541insGTATATATGAATATATATGAATATATAT ATGAATATATATATGTATATATGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATGAATATATATGAATATATATATGAATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBTPS1_chr16_84048763_84121942	84051105	G G	GCCGCATG others(221): Show GCCGCATGTAGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGC TGCAAGGCCCACATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAA GGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATG TGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGC CCGCATGTGGGTAAGGAGAGCGGCAAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0286 a0001c0002t0009g0289 a0001c0002t0009g0290 a0001c0002t0009g0286 a0001c0002t0009g0289 a0001c0002t0009g0290	3	424	0.0071	228	c.33 others(239): Show c.3343_*3344insGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTT GCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGC GGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACC CACATGCGGCCTTGCAGCTCTCCTTACCCACATGTGGGCCTTGCAGCTCT CCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCTACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2657		chr16	TogoVar
MCC_chr5_113017106_113493453	113333856	T T	TATATGTA others(221): Show TATATGTATATATGTACATATGTATATATGTACATATGTACATATATACA TATATGTACATATCTATATATGTACATATATGTACATATATGTATATATG TACATATATGTATATATGTACATATATGTACATATGTACATATATGTATA TATGTACGTATATATGTACATATGTACATATATGTATATATGTATATATG CACATATGTACATATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18998.hp1 NA18945.hp2 NA18998.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0015 a0003c0006t0002g0017 a0003c0006t0002g0015 a0003c0006t0002g0017	2	160	0.0125	228	c.627 others(245): Show c.627+6662_627+6663insGTACATATGTACATATATGTACATATGT GCATATATACATATATACATATATGTACATATGTACATATATACGTACAT ATATACATATATGTACATATGTACATATATGTACATATATACATATATGT ACATATATACATATATGTACATATATGTACATATATAGATATGTACATAT ATGTATATATGTACATATGTACATATATACATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MEAK7_chr16_84471355_84509659	84479390	G G	GCTAATGC others(221): Show GCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGC GGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAA TGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAAT TCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCA GCGGAATTCCCTAATGCCAGCGGAATTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0187 a0001c0001t0105g0187	1	468	0.0021	228	c.52 others(237): Show c.522_*523insGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATT AGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGC TGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGA ATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCA TTAGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAG	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8	522		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(221): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG00738.hp1 others(13): Show HG00544.hp1 HG00639.hp1 HG00738.hp1 HG01081.hp1 HG01257.hp1 HG02040.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02886.hp2 HG03710.hp1 HG03710.hp2 NA18950.hp1 NA18970.hp2 NA19007.hp1 NA19088.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0008 a0017 a0026 a0054	a0001c0001 a0002c0002 a0002c0046 others(6): Show a0001c0001 a0002c0002 a0002c0046 a0004c0004 a0006c0006 a0008c0021 a0017c0012 a0026c0101 a0054c0099	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0046t0001 a0004c0004t0002 a0006c0006t0001 a0008c0021t0001 a0017c0012t0002 a0026c0101t0003 a0054c0099t0052	a0001c0001t0001g0124 a0001c0001t0001g0223 a0001c0001t0006g0034 others(13): Show a0001c0001t0001g0124 a0001c0001t0001g0223 a0001c0001t0006g0034 a0002c0002t0001g0135 a0002c0046t0001g0095 a0004c0004t0002g0023 a0004c0004t0002g0103 a0004c0004t0002g0105 a0004c0004t0002g0106 a0004c0004t0002g0179 a0006c0006t0001g0059 a0008c0021t0001g0062 a0017c0012t0002g0092 a0017c0012t0002g0120 a0026c0101t0003g0221 a0054c0099t0052g0201	16	292	0.0548	228	c.377 others(245): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(221): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	292	0.0034	228	c.377 others(245): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(221): Show ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGA CAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0062 a0062	a0062c0092 a0062c0092	a0062c0092t0022 a0062c0092t0022	a0062c0092t0022g0186 a0062c0092t0022g0186	1	292	0.0034	228	c.377 others(245): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MGAT4C_chr12_85950667_86261391	86110254	A A	AATATATA others(221): Show AATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATAT ATAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATA TATAGACTATATATATATAGACTATATATATAGTCTATATATATATAGTC TATATATATATAGTCTATATATATAGACT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0079 a0001c0001t0096g0079	1	186	0.0054	228	c.-56 others(247): Show c.-56-60532_-56-60531insAGTCTATATATATAGACTATATATAT ATAGACTATATATATATAGACTATATATATAGTCTATATATATATAGTCT ATATATATAGACTATATATATATAGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATAGACTATATATATATAGAC TATATATATAGACTATATATATAGACTATATATATATAGTCTATATATAT AT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(221): Show TTTTCCTTTCCTTTCCTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCT TTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	181	0.0055	228	c.107 others(247): Show c.1073+5159_1073+5160insCCTTTCCTTTCTTTCCTTTCCTTTCC TTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237543786	G G	GGGACAGT others(221): Show GGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAG TCGGGGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGACAGTGGTGA GTGGGTACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTCG TGAATGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGAC AGTGGTGAGTTGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0119 a0006c0006t0003g0119	1	286	0.0035	228	c.153 others(247): Show c.1539+1128_1539+1129insGACAGTGGTGAGTTGGGGGACAGTGG TGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGACAG TAGTGAGTGGGGACAGTGGTGAGTGGGTACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGAGGGGACAGTCGTGAATGGGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGAGGGGACAGTGGTGAGTTGGGACAGTGGTGAGTGG AG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP24_chr20_35221690_35281998	35252815	A A	ACAGGCTC others(221): Show ACAGGCTCAGGTGGGGCTGGGGCAAGGGCCAGGCATGGGCAGGCTCAGGT GGGGCTGGGGCAAGGGCCAGGCATGGGCAGGCTCAGGTGGGGCTGGGGCA AGGGCCCGGCATGGGCAGGCTCAGGTGGGGCTGGGGCAAGGGCCAGGCAT GGGCAGGCTCAGGTGGGGCTGGGGCAAGGGCCAGGCATGGGCAGGCTCAG GTGGGGCTGGGGCAAGGGCCCGGCATGGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	320	0.0031	228	c.512 others(245): Show c.512+1013_512+1014insCGGCATGGGCAGGCTCAGGTGGGGCTGG GGCAAGGGCCAGGCATGGGCAGGCTCAGGTGGGGCTGGGGCAAGGGCCAG GCATGGGCAGGCTCAGGTGGGGCTGGGGCAAGGGCCCGGCATGGGCAGGC TCAGGTGGGGCTGGGGCAAGGGCCAGGCATGGGCAGGCTCAGGTGGGGCT GGGGCAAGGGCCAGGCATGGGCAGGCTCAGGTGGGGCTGGGGCAAGGGCC	MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
MPG_chr16_73225_90846	81572	A A	ACTGACCC others(221): Show ACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCAGGAA GGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	442	0.0023	228	c.301 others(245): Show c.301-1455_301-1454insCCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81855	G G	GCGCTGAC others(221): Show GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	442	0.0023	228	c.301 others(245): Show c.301-1170_301-1169insTCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81855	G G	GCGCTGAC others(221): Show GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	442	0.0023	228	c.301 others(245): Show c.301-1170_301-1169insTCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81857	G G	GCTGACCC others(221): Show GCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCGTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCC TGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAA GGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCT CCGGGAAGGCCTCCTGAATGCTCCCCACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	442	0.0023	228	c.301 others(245): Show c.301-1170_301-1169insTCTCCGGGAAGGCCTCGTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81883	C C	CCTCCAGG others(221): Show CCTCCAGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp1 NA19043.hp2 HG02572.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0188 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0001t0001g0188 a0001c0002t0001g0127 a0001c0002t0001g0128	3	442	0.0068	228	c.301 others(245): Show c.301-1165_301-1164insAGGAAGCCCTCCTGAATGCTCCCCACGC TGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTG AATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGC CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81971	G G	GCTGGCCC others(221): Show GCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAA GCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCT CCGGGAAGGCCTCCTGAATGCTCCCCACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	442	0.0023	228	c.301 others(245): Show c.301-1078_301-1077insGCCCCTTCTTCCCACCACCCTACCTCCG GGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCT ACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCA CCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82054	C C	CCTCCGGG others(221): Show CCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCG GCGCTGACCCCTTCTTCCCACCACCCTAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	442	0.0023	228	c.301 others(243): Show c.301-968_301-967insACTGACCCCTTCTTCCCACCACCCTATCTC CAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCGGCGCTGACCCC TTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCAC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82085	G G	GCTGACCC others(221): Show GCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCT CCGGGAAGGCCTCCTGAATGCTCCCCACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	442	0.0023	228	c.301 others(243): Show c.301-964_301-963insACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82168	T T	TCTCCGGG others(221): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	442	0.0023	228	c.301 others(243): Show c.301-874_301-873insGCCTCCTGAATGCTCCCCACACTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCT GGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGA ATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82199	G G	GCTGACCC others(221): Show GCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTATCT CCGGGAAGGCCTCCTGAATGCTCCCCACA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	442	0.0023	228	c.301 others(243): Show c.301-800_301-799insGGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCT TCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results