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
ELL2_chr5_95880098_95966851	95927688	C C	CGTGTGTA others(103): Show CGTGTGTATATAGACATACACACACACGTGTGTATAGACATACACACACA CGTGTGTATATAGACATACACACACACATATGTGTGTATATAGACATACA CACACACATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	314	0.0032	110	c.196 others(127): Show c.196-8144_196-8143insATATGTGTGTGTGTATGTCTATATACAC ACATATGTGTGTGTGTATGTCTATATACACACGTGTGTGTGTATGTCTAT ACACACGTGTGTGTGTATGTCTATATACACAC	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
EML1_chr14_99788413_99947060	99927954	G G	GGGGTGGG others(103): Show GGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGGGTGGGGGTGGGGGT GGTGGTGGTAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0176 a0002c0001t0002g0176	1	288	0.0035	110	c.190 others(129): Show c.1909+7077_1909+7078insGGGTGGGGGTGGGGGTGGTGGTGGTA TTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGGGTGGGGGTGGGGGTGGTGGTGGTAT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ENOX1_chr13_43208130_43791972	43616103	G G	GATAGATA others(103): Show GATAGATATCTATATATATAGATATCTATATAGATAGATATCTATATAGA TAGATATCTATATATAGATATCTATATAGATAGATATCTATATATCTATA GATATCTATCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0142 a0001c0001t0007g0142	1	188	0.0053	110	c.-21 others(131): Show c.-219+51375_-219+51376insAGATAGATATCTATAGATATATAG ATATCTATCTATATAGATATCTATATATAGATATCTATCTATATAGATAT CTATCTATATAGATATCTATATATATAGATATCTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
EPHX2_chr8_27486143_27550564	27501394	T T	TTCTGCTT others(103): Show TTCTGCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCT GCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0347 a0001c0014t0003g0347	1	374	0.0027	110	c.186 others(125): Show c.186+385_186+386insCTGCTTCTGCTTCTTCTTCTTCTTCTTCTG CTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTGCTTCTTCTTCT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC1_chr12_986223_1500931	1121939	C C	CTCTATCT others(103): Show CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0024 a0001c0001t0120g0024	1	162	0.0062	110	c.156 others(129): Show c.1569+5907_1569+5908insCTATCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTCTATCTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESR1_chr6_151802682_152108274	151850075	A A	ATTTTATA others(103): Show ATTTTATATATATACAAAATTATATATATATTATTTTATATGCATATAAA ATAATATATATATAATTTTATATGCATATAAAATAATATATATATTATTT TATATGCATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	250	0.0040	110	c.643 others(127): Show c.643+7288_643+7289insTTTTATATATATACAAAATTATATATAT ATTATTTTATATGCATATAAAATAATATATATATAATTTTATATGCATAT AAAATAATATATATATTATTTTATATGCATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7			chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(103): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATATATAA TTTTATATGCATATAAAATTATATATATATATTATTTTCTATGCATATAA AATAATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	250	0.0040	110	c.643 others(127): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATATATAATTTTATATGCATATAAAATTATATATATATATTATTTTCT ATGCATATAAAATAATATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(103): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATATATTA TTTTATATGCATATAAAATAATATATATATATTATTTTATATGCATATAA AATAATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0193 a0001c0006t0001g0193	1	250	0.0040	110	c.643 others(127): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATATATTATTTTATATGCATATAAAATAATATATATATATTATTTTAT ATGCATATAAAATAATATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESYT2_chr7_158725997_158834509	158729701	G G	GGGGGAGA others(103): Show GGGGGAGAGGGGCAAGTGTGGATGTGCTGGGGGGGGGAGGAGCAAGTGTG GAGGTGGGGGGGTTGGAGCAGGTGTGGAGGTGCTGGGGAGAGGGGCAAGT GTGGAGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0223 a0001c0008t0016g0223	1	370	0.0027	110	c.45 others(121): Show c.4505_*4506insAGCACCTCCACACTTGCCCCTCTCCCCAGCACCT CCACACCTGCTCCAACCCCCCCACCTCCACACTTGCTCCTCCCCCCCCCA GCACATCCACACTTGCCCCTCTCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1295		chr7	TogoVar
EXD3_chr9_137301896_137428162	137329177	G G	GCTACACG others(103): Show GCTACACGGGACTACACAGGGTCACACGGGACTACACGGGACTACAGGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	82	0.0122	110	c.199 others(129): Show c.1999-5035_1999-5034insTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCCTGTAGTCCCGT GTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329588	T T	TACACGGG others(103): Show TACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGAC TACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGGAC TACACGGGGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0038 a0018c0022t0001g0038	1	82	0.0122	110	c.199 others(129): Show c.1999-5446_1999-5445insGACCCCGTGTAGTCCCGTGTAGCCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329656	G G	GTCACACG others(103): Show GTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGACTACACAGG GTCACACGGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0022 a0022	a0022c0015 a0022c0015	a0022c0015t0001 a0022c0015t0001	a0022c0015t0001g0072 a0022c0015t0001g0072	1	82	0.0122	110	c.199 others(129): Show c.1999-5514_1999-5513insTCCCGTGTGACCCTGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501443	A A	ATATATAA others(103): Show ATATATAATATATATCTATATATATTATATATATATTATATATATCTATA TATATTATATATATATTATATATCTATATATATTATATATATATTATATA TCTATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0267 a0001c0001t0011g0267	1	272	0.0037	110	c.238 others(129): Show c.2381-1744_2381-1743insATATATATAGATATATAATATATATA TAATATATATAGATATATAATATATATATAATATATATAGATATATATAA TATATATATAATATATATAGATATATATTATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(103): Show ATATATATATTATATATATCTATATATATTATATATATATTATATATATC TATATATATTATATATATTATATATATCTATATATATTATATATAATATA TAGATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	272	0.0037	110	c.238 others(129): Show c.2381-1867_2381-1866insATATATATCTATATATTATATATAAT ATATATAGATATATATAATATATATAATATATATAGATATATATAATATA TATATAATATATATAGATATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAM168A_chr11_73395487_73603112	73545013	T T	TATAATAT others(103): Show TATAATATATATTATATATATTATATATAATATATTATATATATAATATA TTATATATATAATATATTATATATATATTATATATAATATATATAATATA TTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0064 a0001c0003t0028g0064	1	180	0.0056	110	c.-19 others(129): Show c.-19+52909_-19+52910insTATATATATAATATATTATATATATT ATATATAATATATATATAATATATTATATATATAATATATTATATATATA ATATATTATATATAATATATATAATATATATTAT	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM222B_chr17_28750980_28847790	28810373	C C	CTGTTTTA others(103): Show CTGTTTTATATACTAGCTAACTTTGTTTTATATACTAGCTAACTTTGTTT TACATACTAGCTAACTCTGTTTTATATACTAGCTAACTTTGTTTTATATA CTAGCTAACTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	276	0.0036	110	c.-41 others(129): Show c.-41+32199_-41+32308dupAAGTTAGCTAGTATATAAAACAAAGT TAGCTAGTATATAAAACAGAGTTAGCTAGTATGTAAAACAAAGTTAGCTA GTATATAAAACAAAGTTAGCTAGTATATAAAACA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FANCD2_chr3_10021437_10106932	10069493	C C	CTCCCCCT others(103): Show CTCCCCCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCTCCACG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0156 a0007c0007t0003g0156	1	242	0.0041	110	c.249 others(129): Show c.2494+2176_2494+2177insTCCCCCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCACG	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar
FANCD2_chr3_10021437_10106932	10070538	C C	CGTCCGGG others(103): Show CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCGGTCCGGGAG GGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02258.hp2 others(11): Show HG01891.hp1 HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 NA18906.hp1 NA20129.hp2	a0003 a0007 a0009 others(1): Show a0003 a0007 a0009 a0015	a0003c0004 a0007c0007 a0009c0010 others(1): Show a0003c0004 a0007c0007 a0009c0010 a0015c0014	a0003c0004t0003 a0007c0007t0003 a0009c0010t0003 others(1): Show a0003c0004t0003 a0007c0007t0003 a0009c0010t0003 a0015c0014t0013	a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 others(11): Show a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0168 a0007c0007t0003g0155 a0007c0007t0003g0156 a0007c0007t0003g0157 a0009c0010t0003g0158 a0009c0010t0003g0159 a0015c0014t0013g0154	14	242	0.0579	110	c.249 others(129): Show c.2495-2301_2495-2300insAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCGGTCCGGGAGGGAGGTGGG GGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBXO15_chr18_74068368_74152834	74140472	G G	GAAGGAAG others(103): Show GAAGGAAGGAAGAAAGGCAGGGAGAAGGGAGGAAGAGGCAGTGAAACCTT GATGGTAAGGAAGGAAGAAAGGCAGGGAGAAGGGAGGAAGAGACAGTGAA ACCTTGATGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03098.hp1 others(2): Show HG02717.hp1 HG02896.hp1 HG03098.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0078	5	324	0.0154	110	c.117 others(125): Show c.117-161_117-160insACCATCAAGGTTTCACTGTCTCTTCCTCCC TTCTCCCTGCCTTTCTTCCTTCCTTACCATCAAGGTTTCACTGCCTCTTC CTCCCTTCTCCCTGCCTTTCTTCCTTCCTT	FBXO15	ENSG00000141665.13	transcript	ENST00000419743.7	protein_coding	1/9			chr18	TogoVar
FER1L5_chr2_96637764_96709883	96659288	G G	GCTTTTCT others(103): Show GCTTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	226	0.0044	110	c.748 others(127): Show c.748-1049_748-1048insTCTTTCTTTCTTTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	123856240	C C	CATATGTG others(103): Show CATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTA TATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATA TGTATATACAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00673.hp1 others(5): Show HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG02451.hp1 NA19002.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0025 a0001 a0002 a0025	a0001c0001 a0001c0041 a0002c0007 others(4): Show a0001c0001 a0001c0041 a0002c0007 a0002c0010 a0002c0011 a0002c0012 a0025c0029	a0001c0001t0002 a0001c0041t0004 a0002c0007t0001 others(4): Show a0001c0001t0002 a0001c0041t0004 a0002c0007t0001 a0002c0010t0002 a0002c0011t0001 a0002c0012t0001 a0025c0029t0003	a0001c0001t0002g0157 a0001c0001t0002g0180 a0001c0041t0004g0081 others(5): Show a0001c0001t0002g0157 a0001c0001t0002g0180 a0001c0041t0004g0081 a0002c0007t0001g0181 a0002c0010t0002g0038 a0002c0011t0001g0113 a0002c0012t0001g0091 a0025c0029t0003g0045	8	196	0.0408	110	c.-8+ others(125): Show c.-8+4057_-8+4058insATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FGD6_chr12_95071749_95222467	95148910	A A	ATATATTA others(103): Show ATATATTATATAATACATAGCATATGTTATATATTATATAATACATAGCA TATGTTATATATTATATAATACATAGCATATGTTATATATTATATAATAC ATAGCATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	384	0.0026	110	c.268 others(129): Show c.2685+3900_2685+3901insATATATGCTATGTATTATATAATATA TAACATATGCTATGTATTATATAATATATAACATATGCTATGTATTATAT AATATATAACATATGCTATGTATTATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95148940	A A	ATATATTA others(103): Show ATATATTATATAATACATAGCATATATTATATATTATATAATACATAGCA TATATTATATATTATATAATACATAGCATATATTATATATTATATAATAC ATAGCATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0104 a0001c0001t0007g0104	1	384	0.0026	110	c.268 others(129): Show c.2685+3870_2685+3871insATATATGCTATGTATTATATAATATA TAATATATGCTATGTATTATATAATATATAATATATGCTATGTATTATAT AATATATAATATATGCTATGTATTATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95148940	A A	ATATATTA others(103): Show ATATATTATATAATACATAGCATATGTTATATATTATATAATACATAGCA TATATTATATATTATATAATACATAGCATATATTATATATTATATAATAC ATAGCATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	384	0.0026	110	c.268 others(129): Show c.2685+3870_2685+3871insATATATGCTATGTATTATATAATATA TAATATATGCTATGTATTATATAATATATAATATATGCTATGTATTATAT AATATATAACATATGCTATGTATTATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95148940	A A	ATATATTA others(103): Show ATATATTATATAATACATAGCATATGTTATATATTATATAATACATAGCA TATATTATATATTATATAATACATAGCATATATTATATATTATGTAATAC ATAGCATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02273.hp2 HG01981.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0053 a0001c0001t0007 a0001c0001t0053	a0001c0001t0007g0095 a0001c0001t0053g0096 a0001c0001t0007g0095 a0001c0001t0053g0096	2	384	0.0052	110	c.268 others(129): Show c.2685+3870_2685+3871insATATATGCTATGTATTACATAATATA TAATATATGCTATGTATTATATAATATATAATATATGCTATGTATTATAT AATATATAACATATGCTATGTATTATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95148940	A A	ATATATTA others(103): Show ATATATTATATAATACATAGCATATGTTATATATTATATAATACATAGCA TATGTTATATATTATATAATACATAGCATATGTTATATATTATATAATAC ATAGCATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	384	0.0026	110	c.268 others(129): Show c.2685+3870_2685+3871insATATATGCTATGTATTATATAATATA TAACATATGCTATGTATTATATAATATATAACATATGCTATGTATTATAT AATATATAACATATGCTATGTATTATATAATATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(103): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCCTT CCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01256.hp2 others(4): Show HG01106.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG02559.hp2 HG02683.hp2 HG02897.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0013	a0001c0001 a0003c0006 a0005c0070 others(1): Show a0001c0001 a0003c0006 a0005c0070 a0013c0021	a0001c0001t0012 a0001c0001t0013 a0003c0006t0013 others(2): Show a0001c0001t0012 a0001c0001t0013 a0003c0006t0013 a0005c0070t0035 a0013c0021t0013	a0001c0001t0012g0126 a0001c0001t0012g0128 a0001c0001t0013g0072 others(4): Show a0001c0001t0012g0126 a0001c0001t0012g0128 a0001c0001t0013g0072 a0001c0001t0013g0092 a0003c0006t0013g0060 a0005c0070t0035g0287 a0013c0021t0013g0056	7	294	0.0238	110	c.426 others(127): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FKBP2_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(103): Show GAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATAT ATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	332	0.0030	110	c.-40 others(121): Show c.-4014_-4013insAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATA TATATATATATATATATATATATATA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3971		chr11	TogoVar
FKBP9_chr7_32952440_33011928	32965826	T T	TGTATATA others(103): Show TGTATATATATATGTGTATACATATACATATATGTATACACATATATATA TATATATGTGTATACATATATACATATATATATATGTATGTGTATATATA TATGTGTATAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0144 a0001c0001t0007g0144	1	430	0.0023	110	c.221 others(127): Show c.221+8032_221+8033insGTATATATATATGTGTATACATATACAT ATATGTATACACATATATATATATATATGTGTATACATATATACATATAT ATATATGTATGTGTATATATATATGTGTATAC	FKBP9	ENSG00000122642.11	transcript	ENST00000242209.9	protein_coding	1/9			chr7	TogoVar
FMNL1_chr17_45216885_45252318	45217515	T T	TTGCTCCT others(103): Show TTGCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0037 a0011c0012t0001g0037	1	384	0.0026	110	c.-46 others(121): Show c.-4610_-4609insTGCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4369		chr17	TogoVar
FMNL2_chr2_152330174_152654826	152624046	C C	CTCCCCTC others(103): Show CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	200	0.0050	110	c.183 others(129): Show c.1838-1368_1838-1367insTTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMO3_chr1_171085905_171122819	171096016	T T	TATATTAA others(103): Show TATATTAATATATAATATATATTAATATACATATATATTAATATATAATA TATATTATATATAATATATAATATATATTATATATAATATATATTATATA TAAATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	404	0.0025	110	c.132 others(127): Show c.132+3226_132+3227insATATTAATATATAATATATATTAATATA CATATATATTAATATATAATATATATTATATATAATATATAATATATATT ATATATAATATATATTATATATAAATATATAA	FMO3	ENSG00000007933.13	transcript	ENST00000367755.9	protein_coding	2/8			chr1	TogoVar
FOLR1_chr11_72187140_72201299	72201226	G G	GTATACAC others(103): Show GTATACACGTATATACGTATGTATACACGTATACGTATGTATACACGTAT ACACGTATGTATACGTCTACACGTATGTATACATATACACGTATGTATAC GTCTACACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01168.hp2 HG00642.hp2 HG01109.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	412	0.0073	110	c.50 others(121): Show c.5049_*5050insTATACACGTATATACGTATGTATACACGTATACG TATGTATACACGTATACACGTATGTATACGTCTACACGTATGTATACATA TACACGTATGTATACGTCTACACGTA	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4928		chr11	TogoVar
FOLR1_chr11_72187140_72201299	72201296	A A	ATACACGT others(103): Show ATACACGTATACGTATGTACACGTATAGACGTATACACGTATACACGTAT ACGTATGTACACGTATAGACGTATACACGTATACACGTATACGTATGTAC ACGTATAGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18975.hp2 NA18978.hp2 NA18962.hp2 NA18975.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0006 a0001c0001t0001g0031	3	412	0.0073	110	c.51 others(121): Show c.5119_*5120insTACACGTATACGTATGTACACGTATAGACGTATA CACGTATACACGTATACGTATGTACACGTATAGACGTATACACGTATACA CGTATACGTATGTACACGTATAGACG	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4998		chr11	TogoVar
FOXS1_chr20_31839303_31850604	31846469	A A	AGAGAGAG others(103): Show AGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGGAGAGAGAGAGAGA GAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	380	0.0026	110	c.-92 others(119): Show c.-928_-927insCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCTCTCTC	FOXS1	ENSG00000179772.8	transcript	ENST00000375978.5	protein_coding		866		chr20	TogoVar
FRMD1_chr6_168048095_168084212	168078791	C C	CCCAGGGC others(103): Show CCCAGGGCCCTGCTCACCCCCATGGCTCTGCTCACCCCCACAGCCCTGCT CACCCCTATGGCCACCCAGGGCCCTCCTCACCCCCATGGCTGTGTTTACT CCCAAGGCCAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0093 a0003c0006t0006g0093	1	402	0.0025	110	c.213 others(123): Show c.213+90_213+91insATGGCCTTGGGAGTAAACACAGCCATGGGGGT GAGGAGGGCCCTGGGTGGCCATAGGGGTGAGCAGGGCTGTGGGGGTGAGC AGAGCCATGGGGGTGAGCAGGGCCCTGG	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(103): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	242	0.0041	110	c.147 others(129): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479630	A A	AAGAAAGA others(103): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03139.hp2 HG01106.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0002 a0001c0001t0040	a0001c0001t0002g0150 a0001c0001t0040g0088 a0001c0001t0002g0150 a0001c0001t0040g0088	2	242	0.0083	110	c.147 others(129): Show c.147+58454_147+58455insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD5_chr15_43865764_44200271	43999961	T T	TATATATA others(103): Show TATATATATATATATGCCATGCATATATATATATATATATGCCATGCATA TATATATATATATATGCCATGCATATATATATATATATATATATATATAT ATATGCCATGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	146	0.0069	110	c.103 others(129): Show c.103-75653_103-75652insGCATGGCATATATATATATATATATA TATATATATATATGCATGGCATATATATATATATATATGCATGGCATATA TATATATATATATGCATGGCATATATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMPD4_chrX_12133473_12729523	12331912	A A	ATTATATA others(103): Show ATTATATAATTTATATACTATATATAAATTATATATATTTATATACTATA TATAAATATATATATTTATATACTATATATAAATTATATAATTTATATAC TATATATAAAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	174	0.0058	110	c.42- others(129): Show c.42-166767_42-166766insTATATAATTTATATACTATATATAAA TTATATATATTTATATACTATATATAAATATATATATTTATATACTATAT ATAAATTATATAATTTATATACTATATATAAATT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
GABRG3_chr15_26966181_27546984	27307038	A A	ACATGTTT others(103): Show ACATGTTTATATATAAACATACAATATAAACATGTTTATATATAAACATA CAATATAAACATGTTTATATATAAACATATAGAATATAAACATGTTTATA TATAAACATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	92	0.0109	110	c.271 others(129): Show c.271-19771_271-19770insCATGTTTATATATAAACATACAATAT AAACATGTTTATATATAAACATACAATATAAACATGTTTATATATAAACA TATAGAATATAAACATGTTTATATATAAACATAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307366	T T	TAGGTTTA others(103): Show TAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTTTATATA TAACCATAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTT TATATATAACC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0028 a0001c0001t0031g0028	1	92	0.0109	110	c.271 others(129): Show c.271-19442_271-19441insGGTTTATATATGTTTATATATAACCA TAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTTTATATA TAACCATAGGTTTATATATGTTTATATATAACCA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292830	G G	GTATATAC others(103): Show GTATATACGATATATCGTATATATCGTATATACGATATATCGTATATATC GTATATACGATATATCGTATATATCATATATTATATACGATATATCGTAT ATATCATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	366	0.0027	110	c.220 others(127): Show c.220+6928_220+6929insATATATGATATATACGATATATCGTATA TAATATATGATATATACGATATATCGTATATACGATATATACGATATATC GTATATACGATATATACGATATATCGTATATA	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAGE10_chrX_49298646_49324841	49314770	T T	TCGAACAA others(103): Show TCGAACAAACTGGCCCCCCCCCCCCCACGCCCCCCCCCCCCCCCCCCAAC CCCCCCCACAACACCCATATAGGGGCCCCAAACACCCACAAACCCCCCCC CCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	302	0.0033	110	c.203 others(127): Show c.203-2393_203-2392insCGAACAAACTGGCCCCCCCCCCCCCACG CCCCCCCCCCCCCCCCCCAACCCCCCCCACAACACCCATATAGGGGCCCC AAACACCCACAAACCCCCCCCCCCCCCCCCCC	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding	3/4			chrX	TogoVar
GARIN5B_chr19_55349908_55368260	55360085	G G	GCCCCAGC others(103): Show GCCCCAGCTCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACTC AGGAGTCCAGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	356	0.0028	110	c.889 others(125): Show c.889-107_889-106insTCTGGACTCCTGAGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGAGTCTGAGGGAGGAGGAGCTGGGG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	8/10			chr19	TogoVar
GARIN5B_chr19_55349908_55368260	55360414	C C	CCCCAGCT others(103): Show CCCCAGCTCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAGCCCCTCC TCCCTCAGACTGAGGAGTCCAGGCCCCAGTCTCTCCTCCCTCACAGACTC AGGAGTCCAGG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0123 a0010c0039t0002g0123	1	356	0.0028	110	c.888 others(125): Show c.888+278_888+279insCCTGGACTCCTGAGTCTGTGAGGGAGGAGA GACTGGGGCCTGGACTCCTCAGTCTGAGGGAGGAGGGGCTGGGGGCCTGG ACTCCTGAGTCTGAGGGAGGAGGAGCTGGG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	8/10			chr19	TogoVar
GATD1_chr11_762222_782487	763218	T T	TGCCCCGC others(103): Show TGCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC CCCCGCCCTCACCCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCC CGCCCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0110 a0001c0001t0056g0110	1	430	0.0023	110	c.76 others(121): Show c.7678_*7679insGGGTGAGGGCGGGGCGGGTGAGGGCGGGGGCGGG TGAGGGCGGGGACGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTG AGGGCGGGGGCGGGTGAGGGCGGGGC	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4003		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCGCCC others(103): Show CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCATCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCC GCCCTCACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	430	0.0023	110	c.76 others(121): Show c.7660_*7661insCAGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCG GGTGAGGGCGGGGATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGG TGAGGGCGGGGGCGGGTGAGGGCGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GLT1D1_chr12_128848478_128989968	128853091	C C	CCTTGGGA others(103): Show CCTTGGGAGGGACTGTGGTCACCGCTGGTCCTGGTCCCCGTGAGAATGGT CTGTGGTCACCGCTGCCTGTTCCCTGTGGAAGGGAACGTGGTCACTGCTG GTCCTAGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02622.hp2 others(6): Show HG02257.hp1 HG02280.hp1 HG02622.hp2 HG02896.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0005 a0001c0002 a0002c0003 a0003c0005	a0001c0002t0001 a0001c0002t0007 a0001c0002t0012 others(4): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0012 a0002c0003t0008 a0003c0005t0001 a0003c0005t0002 a0003c0005t0004	a0001c0002t0001g0319 a0001c0002t0007g0057 a0001c0002t0012g0095 others(6): Show a0001c0002t0001g0319 a0001c0002t0007g0057 a0001c0002t0012g0095 a0002c0003t0008g0320 a0003c0005t0001g0317 a0003c0005t0002g0318 a0003c0005t0004g0043 a0003c0005t0004g0045 a0003c0005t0004g0316	9	320	0.0281	110	c.-49 others(119): Show c.-491_-490insCTTGGGAGGGACTGTGGTCACCGCTGGTCCTGGTCC CCGTGAGAATGGTCTGTGGTCACCGCTGCCTGTTCCCTGTGGAAGGGAAC GTGGTCACTGCTGGTCCTAGTCCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		386		chr12	TogoVar
GNA12_chr7_2723105_2849308	2812636	A A	AACATCAC others(103): Show AACATCACATCACATCACATCACATCACATCACATCACATCACATCACAT CACATCACATCACATCACATCACATCACATCACATCACATCACATCACAT CACATCACATC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02976.hp1 HG02698.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0300 a0001c0001t0007g0184 a0001c0001t0005g0300 a0001c0001t0007g0184	2	322	0.0062	110	c.310 others(129): Show c.310-17494_310-17493insGATGTGATGTGATGTGATGTGATGTG ATGTGATGTGATGTGATGTGATGTGATGTGATGTGATGTGATGTGATGTG ATGTGATGTGATGTGATGTGATGTGATGTGATGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar

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