Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(301): Show TCTGTATTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGACA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	370	0.0027	308	c.65- others(323): Show c.65-7596_65-7595insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGTATTTCTT	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(301): Show TCTGTATTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(62): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01261.hp1 HG01891.hp2 HG01952.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp2 HG02293.hp2 HG02451.hp2 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18985.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19084.hp2 NA19090.hp1 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0043	a0001c0001t0003g0020 a0001c0001t0003g0180 a0001c0001t0003g0181 others(60): Show a0001c0001t0003g0020 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0004g0007 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0125 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0207 a0001c0001t0004g0210 a0001c0001t0004g0215 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0237 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0302 a0001c0001t0008g0017 a0001c0001t0008g0184 a0001c0001t0008g0191 a0001c0001t0008g0203 a0001c0001t0011g0007 a0001c0001t0011g0177 a0001c0001t0011g0194 a0001c0001t0011g0205 a0001c0001t0011g0206 a0001c0001t0017g0183 a0001c0001t0018g0211 a0001c0001t0028g0195 a0001c0001t0031g0017 a0001c0001t0034g0007 a0001c0001t0043g0187	65	370	0.1757	308	c.65- others(323): Show c.65-7596_65-7595insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGTATTTCTT	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
KLHL18_chr3_47277944_47351816	47316707	G G	GTATGTGT others(301): Show GTATGTGTGTATATATATACATATATACGTATGTGTGTATATATATACAT ATATACGTATGTGTGTATATGTGTGTATATATACATATATACGTATATAT GTATATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTAT ATACACATATATACGTATATATGTATATGTGTGTATATACACATATATAC GTATATATGTATATGTGTGTATATACACATATATACGTATATATGTATAT GTGTGTATATACACATATATACGTATATATGTATATGTATATATGTGTAT ATATACACA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19082.hp2 NA18952.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0319 a0002c0002t0001g0196 a0002c0002t0001g0319	2	338	0.0059	308	c.130 others(325): Show c.130-2943_130-2942insGTGTGTATATATATACATATATACGTAT GTGTGTATATATATACATATATACGTATGTGTGTATATGTGTGTATATAT ACATATATACGTATATATGTATATGTGTGTATATATACATATATACGTAT ATATGTATATGTGTGTATATACACATATATACGTATATATGTATATGTGT GTATATACACATATATACGTATATATGTATATGTGTGTATATACACATAT ATACGTATATATGTATATGTGTGTATATACACATATATACGTATATATGT ATATGTATATATGTGTATATATACACATAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	69935206	G G	GTACTGGT others(301): Show GTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATA GTTCACCTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGG TCCATAGTTCACCTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGA ACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATAGTTCACCTAC TGGTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATAGTTC ACCTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCA TAGTTCACC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp2 NA19240.hp2 HG02717.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0001t0021 a0001c0003t0002 a0001c0001t0018 a0001c0001t0021 a0001c0003t0002	a0001c0001t0018g0130 a0001c0001t0021g0157 a0001c0003t0002g0093 a0001c0001t0018g0130 a0001c0001t0021g0157 a0001c0003t0002g0093	3	182	0.0165	308	c.101 others(327): Show c.1014+4833_1014+4834insGGTGAACTATGGACCAAGTTCACCAG TAGGTGAACTATGGACCAAGTTCACCAGTAGGTGAACTATGGACCAAGTT CACCAGTAGGTGAACTATGGACCAAGTTCACCAGTAGGTGAACTATGGAC CAAGTTCACCAGTAGGTGAACTATGGACCAAGTTCACCAGTAGGTGAACT ATGGACCAAGTTCACCAGTAGGTGAACTATGGACCAAGTTCACCAGTAGG TGAACTATGGACCAAGTTCACCAGTAGGTGAACTATGGACCAAGTTCACC AGTAGGTGAACTATGGACCAAGTTCACCAGTA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10			chr13	TogoVar
LAIR1_chr19_54346384_54369931	54349801	T T	TGGATGGA others(301): Show TGGATGGAGGGAGGACGCAGATCCTGAGGATGAATGGATGGAGGACACAG ATCCTGAGGGTGAATGGATGGAGGACACAGATCCTGAGGGTGGATGGATG GAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACACAGATCCTG AGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGAC GCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATG GAGGGAGGACGCAGATCCTGAGGGTGAATGGATGGAGGACGCAGATCCTG AGGGTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02451.hp2 HG03139.hp2 others(1): Show HG01123.hp2 HG02451.hp2 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0062 a0001c0001t0015g0195 a0001c0001t0015g0198 a0001c0001t0015g0062 a0001c0001t0015g0195 a0001c0001t0015g0198	4	462	0.0087	308	c.54 others(319): Show c.5466_*5467insGTCCACCCTCAGGATCTGCGTCCTCCATCCATTC ACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCT CCCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGA TCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCC ATCCTCAGGATCTGTGTCCTCCCTCCATCCATCCACCCTCAGGATCTGTG TCCTCCATCCATTCACCCTCAGGATCTGTGTCCTCCATCCATTCATCCTC AGGATCTGCGTCCTCCCTCCATCC	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1582		chr19	TogoVar
LEXM_chr1_54801063_54847252	54812646	T T	TGAGGTAG others(301): Show TGAGGTAGAATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CACCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0002 a0010c0019t0002	a0010c0019t0002g0067 a0010c0019t0002g0067	1	382	0.0026	308	c.762 others(323): Show c.762+470_762+471insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCACCCGGCCGAGGTAGAATTTT	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471560	A A	ATATATTT others(301): Show ATATATTTATATATATTTATATATATTTATATATATATTTTTATATATAT TTATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGTT ATATATATTTATATATAGTTATATATATTTATATATAGTTATGTATAGTT ATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTATATAT ATATATTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02683.hp2 HG01081.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0218 a0001c0001t0001g0107 a0001c0001t0001g0218	2	260	0.0077	308	c.125 others(325): Show c.125+9578_125+9579insTTATATATATTTATATATATTTATATAT ATATTTTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATATATATTTTTATATATATTTATATAT ATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATAT ATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTAT ATATATAGTTATATATATATATTTTTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189601	G G	GAGGGAGG others(301): Show GAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGG GAGGGAAGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGG GAGGGAAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	62	0.0161	308	c.-36 others(329): Show c.-36+105606_-36+105607insTCTTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMBR1_chr7_156672791_156898183	156881984	T T	TAAGAATC others(301): Show TAAGAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0110 a0001c0003t0110	a0001c0003t0110g0151 a0001c0003t0110g0151	1	314	0.0032	308	c.66+ others(325): Show c.66+10943_66+10944insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG AAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGTGATTCTT	LMBR1	ENSG00000105983.23	transcript	ENST00000353442.10	protein_coding	1/16			chr7	TogoVar
LMF1_chr16_848634_975984	953287	A A	ACACCCAC others(301): Show ACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCA AACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCT ACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTC CAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTGCACGTCCAC ACAGACACC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 NA20129.hp2 HG02622.hp1 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001	a0001c0002t0001g0288 a0001c0002t0002g0291 a0001c0006t0001g0290 a0001c0002t0001g0288 a0001c0002t0002g0291 a0001c0006t0001g0290	3	294	0.0102	308	c.503 others(325): Show c.503+1069_503+1070insGGTGTCTGTGTGGACGTGCAGGAGGCTG GTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGG TGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTC CGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTG AACGTGTAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC28_chr15_99246481_99395729	99387186	A A	GAGTAGCT others(301): Show GAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCACTACTGGTTTTTTTTTGTTGTTGT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGTGGCGGGATC TCGGCTCACTGCAGGCTCGGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0263 a0001c0001t0134g0263	1	332	0.0030	308	c.10 others(319): Show c.1083_*1084insGAGTAGCTGGGACCACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACTACTGGT TTTTTTTTGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCGGTGGCGGGATCTCGGCTCACTGCAGGCTCGGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCC	LRRC28	ENSG00000168904.15	transcript	ENST00000301981.8	protein_coding	10/10	1084		chr15	TogoVar
LYRM4_chr6_5103419_5265950	5135085	A A	ACTCCCGG others(301): Show ACTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTG CGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGG AGGGTGCGGATCTCTCCCGGGGCTGTGGAGGGTGCGGTTCGCTCCCGGGG CTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTC CCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGT TCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGG TGCGGATCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	286	0.0035	308	c.208 others(327): Show c.208-25595_208-25594insCGATCCGCACCCTCCACAGCCCCGGG AGCGATCCGCACCCTCCACAGTCCCGGGAGTGAACCGCACCCTCCACAGC CCCGGGAGCGATCCGCACCCTCCACAGCCCCGGGAGAGAACCGCACCCTC CACAGCCCCGGGAGCGATCCGCACCCTCCACAGCCCCGGGAGCGAACCGC ACCCTCCACAGCCCCGGGAGAGATCCGCACCCTCCACAGCCCCGGGAGCG ATCCGCACCCTCCACAGTCCCGGGAGCGATCCGCACCCTCCACAGTCCCG GGAGCGATCCGCACCCTCCACAGCCCCGGGAG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(301): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02257.hp1 HG02572.hp2 others(9): Show HG01934.hp2 HG02257.hp1 HG02572.hp2 HG03139.hp2 HG03669.hp2 NA18943.hp1 NA18947.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 others(9): Show a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0004g0231 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0008g0234 a0001c0001t0009g0235	12	360	0.0333	308	c.-15 others(325): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIS1_chr2_66430125_66578869	66431845	T T	TAGAAAAC others(301): Show TAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	246	0.0041	308	c.-40 others(319): Show c.-4012_-4011insAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT TCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAG ACTCCGTCTCAAAAAAAAAAAAAA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding		3279		chr2	TogoVar
METRNL_chr17_83074609_83100122	83090386	C C	CCCCCACA others(301): Show CCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACACCCC CCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACA CACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCCACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGC CCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACA CACACCCCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0306 a0001c0001t0009g0306	1	399	0.0025	308	c.557 others(325): Show c.557-2769_557-2768insCCCGCCCCACACACACACCCCCCGCCCC ACACACACACACCCCGCCCCACACACACACACCCCCCGCCCCACACACAC ACACACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGG AGCCACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCC CCCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCC CCACACACACACACCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGAGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	402	0.0025	308	c.14+ others(323): Show c.14+2385_14+2386insTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCT CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(301): Show AATAATTGTCTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	358	0.0028	308	c.112 others(323): Show c.112+923_112+924insTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(301): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20300.hp2 HG01934.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0074 a0001c0003t0001g0075 a0001c0002t0001g0074 a0001c0003t0001g0075	2	256	0.0078	308	c.241 others(327): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGCGG GGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(301): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATGTATATATATGTATATATATGTATATATATGTAT ATATATGTGTATATATGTATATATATGTATATATATGTATATATATATGT GTATATATATGTATATATATGTATATATATGTGTATATATATGTATATAT ATGTATATATATGTATATATATGTATATATATGTATATATATATGTATAT ATATGTATATATATGTATATATATATGTATATATATGTATATATATATGT ATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0168 a0004c0005t0002g0168	1	410	0.0024	308	c.484 others(323): Show c.484-660_484-659insCATATATATACATATATATATACATATATA TACATATATATATACATATATATACATATATATACATATATATATACATA TATATACATATATATACATATATATACATATATATACATATATATACACA TATATATACATATATATACATATATATACACATATATATATACATATATA TACATATATATACATATATACACATATATATACATATATATACATATATA TACATATATATACATATATACATATATATACATATATATATACATATATA TATACATATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(301): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATAATATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATTATATA TATACATATTATATATTATATATATAATATATATACATATTATATTATAT ATAATATATATACATATTATATTATATATAATATATATACATATTATATT ATATATAATATATATACATATTATATATATAATATATAATATATTACATA TTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0100 a0006c0008t0001g0100	1	332	0.0030	308	c.262 others(327): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATAATATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATTATATATATACATATTATATATTATATATATAA TATATATACATATTATATTATATATAATATATATACATATTATATTATAT ATAATATATATACATATTATATTATATATAATATATATACATATTATATA TATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(301): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGTGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGT CGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGTGTGGAGGGGGGGCGCGTG GGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGG AGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0000 a0000	a0000c0039 a0000c0039	a0000c0039t0008 a0000c0039t0008	a0000c0039t0008g0146 a0000c0039t0008g0146	1	388	0.0026	308	c.159 others(325): Show c.1596+173_1596+174insGGGGCGTGTGGGGGGGGCGCATGGGGGG GCGTGGAGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGC GTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGGGGGCGCGTGGGGGGGGTGTGGAGGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTHFSD_chr16_86525186_86560235	86528908	T T	TGGCTATG others(301): Show TGGCTATGTTTCATTTTATTTTTTTTTTTTTTTTTTTTTTTTTATTTTAT TTTATTTTATTTTTTTTATTTTTTATTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTGGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0205 a0004c0004t0008g0205	1	408	0.0025	308	c.31 others(319): Show c.3102_*3103insTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACCAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAA TAAAAAATAAAAAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAA AAAAAAATAAAATGAAACATAGCC	MTHFSD	ENSG00000103248.19	transcript	ENST00000360900.11	protein_coding		1277		chr16	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(301): Show TTTAAGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTC GCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	244	0.0041	308	c.286 others(329): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCAATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19066.hp1 HG00438.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0155 a0001c0001t0001g0110 a0001c0001t0001g0155	2	170	0.0118	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC AATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02015.hp2 HG02040.hp2 others(7): Show HG01255.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 NA18747.hp2 NA18952.hp1 NA18964.hp2 NA18970.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0001 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0062 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0005g0068 a0001c0001t0013g0129	10	170	0.0588	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATATATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0037 a0003c0007t0001g0037	1	170	0.0059	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATATATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATTGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATATATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0017 a0001c0001 a0002c0017	a0001c0001t0018 a0002c0017t0007 a0001c0001t0018 a0002c0017t0007	a0001c0001t0018g0095 a0002c0017t0007g0094 a0001c0001t0018g0095 a0002c0017t0007g0094	2	170	0.0118	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATTGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATATATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(301): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG GAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAGGAGGAGA GAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGGGAGGAGGGAGG GGGAGGGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01109.hp1 others(20): Show HG00280.hp1 HG01069.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG02004.hp1 HG02135.hp1 HG02630.hp2 HG02738.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18966.hp2 NA19002.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0044 a0001c0003 a0001c0010 a0001c0044	a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 others(6): Show a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 a0001c0003t0039 a0001c0003t0082 a0001c0003t0087 a0001c0003t0089 a0001c0010t0086 a0001c0044t0007	a0001c0003t0005g0006 a0001c0003t0005g0009 a0001c0003t0005g0015 others(20): Show a0001c0003t0005g0006 a0001c0003t0005g0009 a0001c0003t0005g0015 a0001c0003t0005g0090 a0001c0003t0005g0125 a0001c0003t0007g0112 a0001c0003t0007g0172 a0001c0003t0007g0176 a0001c0003t0007g0177 a0001c0003t0007g0178 a0001c0003t0007g0292 a0001c0003t0007g0315 a0001c0003t0007g0340 a0001c0003t0007g0341 a0001c0003t0014g0007 a0001c0003t0014g0012 a0001c0003t0014g0252 a0001c0003t0039g0200 a0001c0003t0082g0229 a0001c0003t0087g0326 a0001c0003t0089g0014 a0001c0010t0086g0298 a0001c0044t0007g0164	23	348	0.0661	308	c.887 others(325): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCC TCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCG CCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCC TCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTC CCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(301): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGAGAGAG GAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGG AGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGG GGGAGGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(40): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02135.hp2 HG02257.hp1 HG02735.hp2 HG03491.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19011.hp2 NA19060.hp1 NA19064.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0035 a0001c0002 a0001c0005 a0001c0035	a0001c0002t0003 a0001c0002t0015 a0001c0002t0016 others(12): Show a0001c0002t0003 a0001c0002t0015 a0001c0002t0016 a0001c0002t0047 a0001c0002t0054 a0001c0002t0056 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0005t0029 a0001c0005t0030 a0001c0035t0101	a0001c0002t0003g0080 a0001c0002t0003g0084 a0001c0002t0003g0102 others(40): Show a0001c0002t0003g0080 a0001c0002t0003g0084 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0121 a0001c0002t0003g0140 a0001c0002t0003g0147 a0001c0002t0003g0160 a0001c0002t0003g0169 a0001c0002t0003g0174 a0001c0002t0003g0183 a0001c0002t0003g0205 a0001c0002t0003g0227 a0001c0002t0003g0243 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0015g0129 a0001c0002t0015g0143 a0001c0002t0015g0185 a0001c0002t0016g0026 a0001c0002t0016g0131 a0001c0002t0047g0153 a0001c0002t0054g0303 a0001c0002t0056g0021 a0001c0002t0059g0307 a0001c0002t0060g0337 a0001c0002t0061g0146 a0001c0002t0062g0110 a0001c0002t0063g0107 a0001c0002t0064g0239 a0001c0005t0029g0293 a0001c0005t0029g0320 a0001c0005t0030g0029 a0001c0005t0030g0030 a0001c0035t0101g0286	43	348	0.1236	308	c.887 others(325): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCG CCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCC TCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTC CCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(301): Show GGAGGGAGGGAAGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGG GAGGGAAGGAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGA CGGAGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGA GGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGG AGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGG GGGAGGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0091 a0001c0009t0037g0091	1	348	0.0029	308	c.887 others(325): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTC CCGCCCTCCTGCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCT CCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTC CTCCCTCCCTCTTCCCTCCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NDUFA5_chr7_123531997_123562818	123554488	A A	ACAATTTA others(301): Show ACAATTTATAAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01243.hp2 others(11): Show HG00140.hp1 HG01168.hp1 HG01243.hp2 HG01516.hp1 HG02109.hp1 HG02258.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03139.hp2 HG03654.hp1 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0063 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0002g0026 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0003g0027 a0001c0001t0004g0028 a0001c0001t0004g0064 a0001c0001t0008g0059	14	414	0.0338	308	c.66+ others(323): Show c.66+2915_66+2916insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAACTTATAAATTG	NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding	2/4			chr7	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG03579.hp2 HG02723.hp1 HG02723.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0051	3	376	0.0080	308	c.98 others(317): Show c.980_*981insTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCA GGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTG GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(301): Show TAATATATATTATATATAAATATATATAATATATAATATATATTATATAT AAATATATATAATATATAATATATATTATATATAAATATATATATAATAT ATATTATATATTATATATAAATATATAATATATAATATATATTATATTAT ATATTATATAATATGTAAATATATATTATATATATTATATAATATATAAT ATATTATATATATTATATAATATATTATATATAATATAATATATTATATA TTATATAATATATTATATATTATATAATATATTATATATAATATATAATA TATTATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0125 a0002c0003t0031g0125	1	348	0.0029	308	c.48+ others(323): Show c.48+1020_48+1021insAATATATATTATATATAAATATATATAATA TATAATATATATTATATATAAATATATATAATATATAATATATATTATAT ATAAATATATATATAATATATATTATATATTATATATAAATATATAATAT ATAATATATATTATATTATATATTATATAATATGTAAATATATATTATAT ATATTATATAATATATAATATATTATATATATTATATAATATATTATATA TAATATAATATATTATATATTATATAATATATTATATATTATATAATATA TTATATATAATATATAATATATTATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NEGR1_chr1_71390943_72287539	71928161	C C	CACATGTA others(301): Show CACATGTATATATGTATATATACACACACATGTGTATATACACATATGTA TATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACACATGTGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTATATATGTATATATACACACATATG TGTATATACACATATGTATATATGTATATATACACACATATGTATATACG TATATATGTATATATACACACATATGTATATACGTATATATGTATATATA CACACATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	64	0.0156	308	c.409 others(325): Show c.409+6917_409+6918insATATGTGTGTATATATACATATATACGT ATATACATATGTGTGTATATATACATATATACGTATATACATATGTGTGT ATATATACATATATACATATGTGTATATACACATATGTGTGTATATATAC ATATATACATATGTGTATATACACATATGTGTGTATATATACATATATAC ATATGTGTATATACACATGTGTGTGTATATATACATATATACATATGTGT ATATACACATATGTGTGTATATATACATATATACATATGTGTATATACAC ATGTGTGTGTATATATACATATATACATGT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NELL2_chr12_44503278_44881315	44737351	T T	TCAATAAC others(301): Show TCAATAACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0057 a0001c0001t0010g0057	1	158	0.0063	308	c.995 others(327): Show c.995-22611_995-22610insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAGTTATTG	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	9/19			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807928	C C	CTCTCCCT others(301): Show CTCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGAT GTCTGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	319	0.0031	308	c.-13 others(319): Show c.-1350_-1349insTCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTC CCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTC CCTCAGCCCAGGGATGTCTGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1264		chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(301): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	362	0.0028	308	c.-74 others(325): Show c.-74-6203_-74-6202insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(301): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0151 a0001c0003t0010g0151	1	362	0.0028	308	c.-74 others(325): Show c.-74-6203_-74-6202insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(301): Show TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATAAATATATATTTATGTATGTG CATACATATATATATATTTATGTATGTGCATAAATACATATATATTTATG TATGTGCATAAATACATATATATTTATGTATGTGCATAAATATATATATA TATTTATGTATGTGCATAAATATATATATATATATTTATGTATGTGCATA AATATATATATATATTTATGTATGTGCATAAATATATATATATTTATGTA TGTGCATAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 NA20129.hp1 HG02717.hp1 HG02818.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0028 a0001c0001t0034 a0001c0001t0018 a0001c0001t0028 a0001c0001t0034	a0001c0001t0018g0004 a0001c0001t0028g0029 a0001c0001t0034g0025 a0001c0001t0018g0004 a0001c0001t0028g0029 a0001c0001t0034g0025	3	44	0.0682	308	c.707 others(329): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATAAATATATATTTATGTATGTGCATACATATATATATATTTATGTATG TGCATAAATACATATATATTTATGTATGTGCATAAATACATATATATTTA TGTATGTGCATAAATATATATATATATTTATGTATGTGCATAAATATATA TATATATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTG CATAAATATATATATATTTATGTATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRP8_chr19_55942832_55993629	55993534	C C	CCCCTCCC others(301): Show CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCTCCACCTCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0003 a0003c0036t0003	a0003c0036t0003g0153 a0003c0036t0003g0153	1	350	0.0029	308	c.56 others(319): Show c.5621_*5622insCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCACCTCCCTCCCCCTCCCCCCCTCCC CTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4906		chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(301): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	356	0.0028	308	c.91+ others(321): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148890	A A	ACCTCGGT others(301): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0001 a0012c0033t0001	a0012c0033t0001g0154 a0012c0033t0001g0154	1	294	0.0034	308	c.901 others(321): Show c.901+61_901+62insGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148957	A A	ACTCACAC others(301): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0126 a0017c0026t0001g0126	1	294	0.0034	308	c.901 others(321): Show c.901+65_901+66insACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149006	T T	TACCACAC others(301): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCCCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	294	0.0034	308	c.901 others(323): Show c.901+149_901+150insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCCCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149534	C C	CACCACAC others(301): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCC AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCCAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCCAATCCCCTCGGT GAGTGCGGCCGCCTCACTCCTACCACACCCCCAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	294	0.0034	308	c.901 others(323): Show c.901+677_901+678insGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCCAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCCAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCCAATCCCCTCGGTGAGTGCGGCCGCCTCACTC CTACCACACCCCCAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149749	G G	GCTCACAC others(301): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0181	1	294	0.0034	308	c.901 others(323): Show c.901+888_901+889insGGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150448	G G	GCTCACAC others(301): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	294	0.0034	308	c.902 others(323): Show c.902-490_902-489insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150541	C C	CACCACAC others(301): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	294	0.0034	308	c.902 others(323): Show c.902-402_902-401insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150624	G G	GCTCCTAC others(301): Show GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	294	0.0034	308	c.902 others(323): Show c.902-354_902-353insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150672	A A	ACACCACA others(301): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	294	0.0034	308	c.902 others(323): Show c.902-309_902-308insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar

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Search Results (Total: 10000 hits)