Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA19054.hp1 HG00408.hp2 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0172 a0001c0002t0001g0175	2	440	0.0046	207	c.12 others(218): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	440	0.0023	207	c.12 others(218): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881982	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18989.hp1 NA19005.hp1 others(1): Show NA18971.hp1 NA18989.hp1 NA19005.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0135 a0001c0002t0001g0157 others(1): Show a0001c0002t0001g0020 a0001c0002t0001g0135 a0001c0002t0001g0157 a0001c0002t0001g0161	4	440	0.0091	207	c.11 others(218): Show c.1194_*1195insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		296		chr13	TogoVar
CEP72_chr5_607340_658553	649823	G G	GACTGTGA others(200): Show GACTGTGAGGTGTGACTGTGAGGTGTGACCACGAGGCATGGACTGTGAGA TGGGACTGTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAACC CTGAGTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGA GGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGGCTGTGAGGTGTGAATG TGAGGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	91	0.0110	207	c.177 others(226): Show c.1778+1907_1778+1908insACTGTGAGGTGTGACTGTGAGGTGTG ACCACGAGGCATGGACTGTGAGATGGGACTGTGAGGTATGTGACCATGGG GTGTGGGCTGTGAGGTATCAACCCTGAGTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAG GTGTGGGCTGTGAGGTGTGAATGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP47_chrX_35914734_36390317	35966350	A A	ATTAGCTG others(200): Show ATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATAT TAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTA GCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGC AGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTG CTAATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0026 a0026	a0026c0069 a0026c0069	a0026c0069t0001 a0026c0069t0001	a0026c0069t0001g0147 a0026c0069t0001g0147	1	216	0.0046	207	c.141 others(224): Show c.1411-214_1411-213insTAGCTGCTAATATTTAAGAGATATTAGC TGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTG CTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCT AATATTTAAGAGATATTAGCAGCTAATATTTAAGAGATATTAGCTGCTAA TATTTAAGAGATATTAGCTGCTAATATTT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966350	A A	ATTAGCTG others(200): Show ATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATAT TAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTA GCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGC TGCTAATATTTAAGAGATATTAGCAGCTAATATTTAAGAGATATTAGCTG CTAATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0077 a0007c0077	a0007c0077t0001 a0007c0077t0001	a0007c0077t0001g0140 a0007c0077t0001g0140	1	216	0.0046	207	c.141 others(224): Show c.1411-214_1411-213insTAGCTGCTAATATTTAAGAGATATTAGC TGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTG CTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCT AATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCAGCTAA TATTTAAGAGATATTAGCTGCTAATATTT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20296016	T T	TCCTTCCT others(200): Show TCCTTCCTTCCTGGCTGCCTGCCTTCCTGCCTTCCCTTCCTCCCTCCCTC CCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTAC TTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTC CTTTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCT TCCCATCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	236	0.0042	207	c.321 others(226): Show c.3217-2165_3217-2164insCCTTCCTTCCTGGCTGCCTGCCTTCC TGCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCT TCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCC TCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTC TTTCCCTTCCTCCCTCCCTTCCTTCCCATCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320401	G G	GTAATATA others(200): Show GTAATATATTATATATATGTAATATATATAATATATGTAATATATTATAT ATATGTAATATATATAATATATGTAATATATTATATAAATGTAATATATA TAATATATGTAATATATATTATATATGTAATATATATAATATATGTAATA TATATTATATATGTAATATATATAATATATGTAATATATATTATATATGT AATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	236	0.0042	207	c.342 others(228): Show c.3423-21422_3423-21421insTATATATATGTAATATATATAATA TATGTAATATATTATATATATGTAATATATATAATATATGTAATATATTA TATAAATGTAATATATATAATATATGTAATATATATTATATATGTAATAT ATATAATATATGTAATATATATTATATATGTAATATATATAATATATGTA ATATATATTATATATGTAATATATATAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320401	G G	GTAATATA others(200): Show GTAATATATTATATATATGTAATATATATAATATATGTAATATATTATAT ATATGTAATATATATAATATATGTAATATATTATATATATGTAATATATA TAATATATGTAATATATTATATATATGTAATATATATAATATATGTAATA TATATTATATATGTAATATATATAATATATGTAATATATATTATATATGT AATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	236	0.0042	207	c.342 others(228): Show c.3423-21422_3423-21421insTATATATATGTAATATATATAATA TATGTAATATATTATATATATGTAATATATATAATATATGTAATATATTA TATATATGTAATATATATAATATATGTAATATATTATATATATGTAATAT ATATAATATATGTAATATATATTATATATGTAATATATATAATATATGTA ATATATATTATATATGTAATATATATAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320401	G G	GTAATATA others(200): Show GTAATATATTATATATATGTAATATATATAATATATGTAATATATTATAT ATATGTAATATATATAATATATGTAATATATTATATATATGTAATATATA TAATATATGTAATATATTATATATATGTAATATATATAATATATGTAATA TATTATATATATGTAATATATATAATATATGTAATATATATTATATATGT AATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0224 a0001c0006t0002g0224	1	236	0.0042	207	c.342 others(228): Show c.3423-21422_3423-21421insTATATATATGTAATATATATAATA TATGTAATATATTATATATATGTAATATATATAATATATGTAATATATTA TATATATGTAATATATATAATATATGTAATATATTATATATATGTAATAT ATATAATATATGTAATATATTATATATATGTAATATATATAATATATGTA ATATATATTATATATGTAATATATATAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A2_chr13_110302284_110518209	110481773	T T	TTGCTGGA others(200): Show TTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTC TGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGAC ACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTG TCCCTCCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG06807.hp1 HG01192.hp1 HG06807.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0026t0001g0032 a0003c0026t0001g0034	2	372	0.0054	207	c.275 others(224): Show c.2759-727_2759-726insTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481773	T T	TTGCTGGA others(200): Show TTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTC TGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGAC ACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGTTCTG TCCCTCCG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0080 a0001c0005t0003g0080	1	372	0.0027	207	c.275 others(224): Show c.2759-727_2759-726insTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTG TTCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TTGCTGGA others(200): Show TTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGT CCCCTCCG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0295 a0002c0017t0002g0295	1	372	0.0027	207	c.275 others(224): Show c.2759-697_2759-696insTTCTGTCCCTCTGTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGG AGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC TCTGTCCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCGT others(200): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGA TACACGGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	348	0.0029	207	c.927 others(222): Show c.927+656_927+657insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923697	C C	CCCCACAC others(200): Show CCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTAA CCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACACT AACCCAGT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0250 a0002c0012t0002g0250	1	350	0.0029	207	c.488 others(224): Show c.488+1055_488+1056insACACTGACCCGGCCCCCACACTGACCCG GCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCCCACACT AACCCAGCCCCCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924185	C C	CCCCCACA others(200): Show CCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACAC TAATCCGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0003 a0009c0010t0003	a0009c0010t0003g0190 a0009c0010t0003g0190	1	350	0.0029	207	c.489 others(224): Show c.489-1535_489-1534insACACTGACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCACACTAATCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980899	G G	GCCCAGAC others(200): Show GCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGATAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCATGCTCAGTCTCTGGGGTAGGAGC CTCAGGAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	350	0.0029	207	c.440 others(226): Show c.4402-1976_4402-1975insACTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGATAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCATGCTC AGTCTCTGGGGTAGGAGCCTCAGGATCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(200): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00323.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0233 a0001c0001t0001g0241	2	360	0.0056	207	c.28- others(222): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CUX2_chr12_111029165_111355554	111326378	T T	TGTGATGG others(200): Show TGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAG TGTTGTGGTGGGGGAGGGGTGGGTTTATTTATAGTGTTGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTTATA GTGTTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0022 a0001c0008t0002g0022	1	100	0.0100	207	c.292 others(226): Show c.2926+3801_2926+3802insATGGGGAGGGGTTGGTTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGA GGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTATTT ATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTTGGTTTTGTTTATAGTGTTGTGGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP2R1_chr11_14872440_14897231	14877774	C C	CTGTTTTT others(200): Show CTGTTTTTCAAAACTTGTGGAATGAGAATTCAGTAACAGGTAGCTTGAGA AACTGAGACCCAGAGAGGGAAAAGATATAGTCACTTAAGTAAAACTAGAA TCTCACTCTCTTGGCTTCTGGTTATTGTACTTCATCTTCAATTAGGAAAA TATTGCTTCTTCTGTGAAAAGGTACACAAGACCCATGGAAGATGGACTAG AAACTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	404	0.0025	207	c.34 others(216): Show c.347_*348insAAGAGTTTCTAGTCCATCTTCCATGGGTCTTGTGTA CCTTTTCACAGAAGAAGCAATATTTTCCTAATTGAAGATGAAGTACAATA ACCAGAAGCCAAGAGAGTGAGATTCTAGTTTTACTTAAGTGACTATATCT TTTCCCTCTCTGGGTCTCAGTTTCTCAAGCTACCTGTTACTGAATTCTCA TTCCACAAGTTTTGAAAAACA	CYP2R1	ENSG00000186104.11	transcript	ENST00000334636.10	protein_coding	5/5	347		chr11	TogoVar
DEPDC1B_chr5_60591912_60705166	60667360	T T	TAAAATGG others(200): Show TAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATATA CAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATAT ACAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATAT ATACAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACAT ATATACAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02257.hp1 HG02683.hp2 others(1): Show HG00738.hp2 HG02257.hp1 HG02683.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0278 others(1): Show a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0279	4	292	0.0137	207	c.314 others(226): Show c.314+19601_314+19602insTTGTATATATGTAAAATATCCATTTT TTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCATT TTTTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCA TTTTTTGTATATATGTAAAATATCCATTTTTGTATATATGTAAAATATCC ATTTTTTGTATATATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(200): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	370	0.0027	207	c.27 others(218): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGC GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGG GGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DHX40_chr17_59560610_59613345	59569700	T T	TATATATA others(200): Show TATATATATATCTATATATATATTATAGATATATATATAATATATATATC TATATATATATATAGATATATATATAATATATATATCTATAATATATATA GATATATATATAATATATATATCTATATATATATTATATATATATCTATA TATATTATAGATATATATATAATATATATATCTATATATATATATAGATA TATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02886.hp2 others(4): Show HG01099.hp2 HG01884.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050	7	324	0.0216	207	c.281 others(222): Show c.281-796_281-795insTATAGATATATATATAATATATATATCTAT ATATATATATAGATATATATATAATATATATATCTATAATATATATAGAT ATATATATAATATATATATCTATATATATATTATATATATATCTATATAT ATTATAGATATATATATAATATATATATCTATATATATATATAGATATAT ATATAATATATATATCTATATATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(200): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	284	0.0035	207	c.101 others(226): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516542	G G	GTAAGGTG others(200): Show GTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGGACGGGGTAGG GTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGG GGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGAC ACGGGGTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	88	0.0114	207	c.86- others(224): Show c.86-30013_86-30012insTACCCCGTGTCCCCCCCACCCTACCCCC TGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCC CCCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCCTC CCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTAC CCCCTTCCCCTGTCCCACTGTCCACCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3741008	C C	CCACCATC others(200): Show CCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACC ATCACCACCACCACCACCACCATCACCTCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCATCACCACCACCACCATCACCATCACCAC CACCATCACCACCACCACCACATCACCTCACCACCACCACCACCATCACC ACCACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0030 a0001c0005t0006g0030	1	80	0.0125	207	c.135 others(226): Show c.1350+1326_1350+1327insATGGTGGTGGTGATGGTGGTGGTGGT GGTGAGGTGATGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGAGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1000234	G G	GGGGGTGG others(200): Show GGGGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGAGCGGACAGATCCGG GTGGGGGTGGTTTTCTTTTGCACTTGATGTTCTCTAGAGCGGACAGATCC GGGTGGAGGTGGTTTTCTTTCGCACTGGATTTTCTCTAGAGCGGAAAGAT CTGGGTTGGGGTGGTTTTCTTTTGCACCGGATTTTCTCTAGAGCAGACAC ATCCGGGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG01496.hp1 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0018 a0002c0004t0003 a0002c0004t0018	a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0003g0009 a0002c0004t0018g0010	2	40	0.0500	207	c.73+ others(224): Show c.73+92466_73+92467insCATCCGGGTGGGGTGGTTTTCTTTTGCA CTGGATTTTCTCTAGAGCGGACAGATCCGGGTGGGGGTGGTTTTCTTTTG CACTTGATGTTCTCTAGAGCGGACAGATCCGGGTGGAGGTGGTTTTCTTT CGCACTGGATTTTCTCTAGAGCGGAAAGATCTGGGTTGGGGTGGTTTTCT TTTGCACCGGATTTTCTCTAGAGCAGACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1000234	G G	GGGGGTGG others(200): Show GGGGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGAGCGGACAGATCCGG GTGGGGGTGGTTTTCTTTTGCACTTGATGTTCTCTAGAGCGGACAGATCC GGGTGGAGGTGGTTTTCTTTCGCACTGGATTTTCTCTAGAGCGGAAAGAT CTGGGTTGGGGTGGTTTTCTTTTGCACCGGATTTTCTCTAGAGCAGACAG ATCCGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02818.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0021 a0002c0007t0008 a0002c0006t0021 a0002c0007t0008	a0002c0006t0021g0014 a0002c0007t0008g0040 a0002c0006t0021g0014 a0002c0007t0008g0040	2	40	0.0500	207	c.73+ others(224): Show c.73+92280_73+92486dupCTTTTGCACTGGATTTTCTCTAGAGCGG ACAGATCCGGGTGGGGGTGGTTTTCTTTTGCACTTGATGTTCTCTAGAGC GGACAGATCCGGGTGGAGGTGGTTTTCTTTCGCACTGGATTTTCTCTAGA GCGGAAAGATCTGGGTTGGGGTGGTTTTCTTTTGCACCGGATTTTCTCTA GAGCAGACAGATCCGGGTGGGGTGGTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(200): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATGGGATATATATATCATATATATATGATATATATGGG ATATATATATCATATATATATCATATATATGGGATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG03195.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0311 others(1): Show a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0001g0314	4	336	0.0119	207	c.22- others(224): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATATGATATATATATCCCATATATATCATATATAT ATGATATATATATCCCATATATATCATATATATATCATATATATATCATA TATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK1_chr10_126900428_127457516	126947451	G G	GTGGTGGT others(200): Show GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0023 a0004c0020t0003g0023	1	136	0.0074	207	c.47- others(224): Show c.47-23244_47-23243insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947680	A A	ATGGTGGT others(200): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGT GGTGATGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0113 a0001c0027t0002g0113	1	136	0.0074	207	c.47- others(224): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947685	G G	GGTGGTTG others(200): Show GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0012 a0001c0056t0001g0012	1	136	0.0074	207	c.47- others(224): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTAGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947906	T T	TTGGTGGT others(200): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATT ACTGTTGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	136	0.0074	207	c.47- others(224): Show c.47-22791_47-22790insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400937	A A	ACCACCAC others(200): Show ACCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTT CACCATCACCACAACATCCACCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC TCCTCCACCATCACCACCTCCTCCACCATCACCACCTCCTCCACCACCAC CATCACCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0227 a0008c0022t0001g0227	1	256	0.0039	207	c.323 others(226): Show c.3234+1687_3234+1688insCCTCCACCACCACCACCTCCCCCACT ACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCTCCTCCACCATCACCACCTCCTCCACCATCACCACC TCCTCCACCACCACCATCACCTCCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400963	C C	CAGCATCT others(200): Show CAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCACCACCA GCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCTCC ACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCAC CATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCA ATATCACT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0025 a0025	a0025c0125 a0025c0125	a0025c0125t0002 a0025c0125t0002	a0025c0125t0002g0123 a0025c0125t0002g0123	1	256	0.0039	207	c.323 others(226): Show c.3234+1705_3234+1706insGCATCTTCACCATCACCACCACCTCC ACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCAC CATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCA CCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATT ATCACCTTTCCTATCACCTCCAATATCACTA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(200): Show CTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	250	0.0040	207	c.-10 others(226): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619002	C C	CCCCCCGC others(200): Show CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCCTCCCTGCA GCTCCCTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	250	0.0040	207	c.-10 others(226): Show c.-107+5288_-107+5289insGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(200): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGATGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGT GATGATGCTGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGC TGAGACGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0166	1	170	0.0059	207	c.227 others(226): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGGGATG TGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGACGCCGAGACGTGTGGTGATGATGCTGAGACGTGTGGTGATGACGCTG GGATGTGTGGTGATGACGCTGAGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(200): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT ATAATATACATAATATATAATATATATTATGTAATATATTACATATATTA TATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	312	0.0032	207	c.-37 others(218): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATATTATATATATATTATACATAATATATATAT TATATATTATATATTATATATTATGTATAATATATAATATATAATATATT ATATATTACATATAATATATTATATGTAATATATAACATATATTACATAA TATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
ELOVL6_chr4_110040846_110203615	110084076	C C	CTATATAT others(200): Show CTATATATGATATATAACATATATATGATATATATGATATATACATGTTA TATATCATATATATCATATATATGTTATATATGATATATAACATATATAT GATATATATTATATATATAACATATGTGATGATATATATGATATATATAA CATATATATGATATATATGATATATACATGTTATATATCATATATATCAT ATATATGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03540.hp2 HG02896.hp1 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042	3	338	0.0089	207	c.221 others(226): Show c.221+21420_221+21421insTCATATATATGATATATATGATATAT AACATGTATATATCATATATATCATATATATGTTATATATATCATATATA TCATCACATATGTTATATATATAATATATATCATATATATGTTATATATC ATATATAACATATATATGATATATATGATATATAACATGTATATATCATA TATATCATATATATGTTATATATCATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ERC1_chr12_986223_1500931	1086416	A A	ATTGTTGT others(200): Show ATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCGTTATTATTATTATTGTTGTTGTTGTTGACAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTAT TATTATTG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0012 a0001c0001t0077g0012	1	162	0.0062	207	c.108 others(226): Show c.1086+2848_1086+2849insTTGAAAGTGCTGAGATTACAGGCAAT ATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGTTGACAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCGTTATTATTATTATTGTTGTTGTTGTTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137328661	A A	AGCTACAC others(200): Show AGCTACACGGGAGCTACACGGGAGCTACGCGGGACTACGCGGGACTACGC GGGACTACACGGGACTACACGGGAGCTACACGGGACTACGCGGGACTACG CGGGACTACGCGGGACTACGCGGGAGCTACGCGGGAGCTACACGGGACTA CGCGGGACTACGCGGGACTACGCGGGACTACGCGGGACTACGCGGGACTA CACGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01256.hp2 HG00280.hp1 HG00323.hp2 HG01256.hp2	a0007 a0015 a0007 a0015	a0007c0010 a0015c0028 a0007c0010 a0015c0028	a0007c0010t0001 a0015c0028t0001 a0007c0010t0001 a0015c0028t0001	a0007c0010t0001g0021 a0007c0010t0001g0079 a0015c0028t0001g0080 a0007c0010t0001g0021 a0007c0010t0001g0079 a0015c0028t0001g0080	3	82	0.0366	207	c.199 others(226): Show c.1999-4519_1999-4518insCTCCCGTGTAGTCCCGCGTAGTCCCG CGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCC GCGTAGCTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCC CGTGTAGCTCCCGTGTAGTCCCGTGTAGTCCCGCGTAGTCCCGCGTAGTC CCGCGTAGCTCCCGTGTAGCTCCCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
F7_chr13_113100791_113125685	113107448	A A	AGGGTGTC others(200): Show AGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGT GTGGGTGTCCCGGGGGCGAGGGTGTCCCGGGGGTGTGGGTGTCCCAGGGG TCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGG AGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGG GGGAGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	400	0.0025	207	c.64+ others(222): Show c.64+1608_64+1609insCGAGGGTGTCCCGGGGGTGTGGGTGTCCCA GGGGTCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCC CGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTC CCGGGGGAGTGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGT GTCCCGGGAGTGTGGGTGTCCCGGGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM114A2_chr5_153985148_154043910	154025502	C C	CTCATAGA others(200): Show CTCATAGACTCCCTGAAAGGGTTTTGGGAATTCAAGGGTCTACAGACCAC ACTTTGTTCATCACTGATTTAACCTACTACATGGGTGATTGGCCCTATGT CTTAATGAAACCTGAGAGAATTTTTCCATTCACTTTTAATGTTTATAACT GATTATTTCATGAAGAAAAGGCAAAACTGTATTCATTAGATTCCACTTTT TTAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	344	0.0029	207	c.913 others(222): Show c.913+896_913+897insTTTTTTAAAAAAGTGGAATCTAATGAATAC AGTTTTGCCTTTTCTTCATGAAATAATCAGTTATAAACATTAAAAGTGAA TGGAAAAATTCTCTCAGGTTTCATTAAGACATAGGGCCAATCACCCATGT AGTAGGTTAAATCAGTGATGAACAAAGTGTGGTCTGTAGACCCTTGAATT CCCAAAACCCTTTCAGGGAGTCTATGA	FAM114A2	ENSG00000055147.19	transcript	ENST00000351797.9	protein_coding	8/13			chr5	TogoVar
FAM168A_chr11_73395487_73603112	73545004	T T	TTATATAT others(200): Show TTATATATTATATATAATATATATTATATATATTATATATAATATATTAT ATATAATATATTATATATATATTATATATAATATATTATATATAATATAT TATATATATATTATATATATTATATATAATATATATATAATATATATATA TAATATATTATATATATATATTATATATATAATATATATATAATATATTA TATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG03041.hp2 others(3): Show HG02723.hp2 HG02809.hp2 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 others(3): Show a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018	6	180	0.0333	207	c.-19 others(226): Show c.-19+52918_-19+52919insTATATATATAATATATTATATATATA TTATATATATAATATATATATATAATATATTATATATATATATTATATAT ATATTATATATAATATATATAATATATATATAATATATTATATATAATAT ATTATATATAATATATATATAATATATTATATATAATATATTATATATAA TATATATAATATATATTATATATAATATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FGD3_chr9_92942523_93041233	93010609	A A	AACAGAGG others(200): Show AACAGAGGGGAGGAGAGAGAGACACACAGAGACAGAGGAAGGAGGGGGAG AGAGAGGGATGGAGAAACAGACAGAGGGGAGGAGAGAGAGACACACAGAG ACAGAGGAAGGAGGGGGAGAGAGAGGGATGGAGAAACAGACAGAGGGGAG GAGAGAGAGACACACAGAGACAGAGGAAGGAGGGGGAGAGAGAGGGATGG AGAAACAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 NA19240.hp1 HG02630.hp1 HG02970.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0155 a0001c0005t0004g0156 a0001c0005t0004g0158 a0001c0005t0004g0155 a0001c0005t0004g0156 a0001c0005t0004g0158	3	322	0.0093	207	c.976 others(222): Show c.976+349_976+350insGGATGGAGAAACAGACAGAGGGGAGGAGAG AGAGACACACAGAGACAGAGGAAGGAGGGGGAGAGAGAGGGATGGAGAAA CAGACAGAGGGGAGGAGAGAGAGACACACAGAGACAGAGGAAGGAGGGGG AGAGAGAGGGATGGAGAAACAGACAGAGGGGAGGAGAGAGAGACACACAG AGACAGAGGAAGGAGGGGGAGAGAGAG	FGD3	ENSG00000127084.19	transcript	ENST00000375482.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FGFR4_chr5_177081915_177103144	177097063	C C	CCTCCTCT others(200): Show CCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC TCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCCTCCTCCTCCT CCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTC TCCTCCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0200 a0003c0007t0001g0200	1	372	0.0027	207	c.215 others(224): Show c.2154-227_2154-226insCCTCTTCCTCCTTCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCT CCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCC TGCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317117	A A	AGCCCATT others(200): Show AGCCCATTCCCTCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCC TCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCTCCCCCCT CCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCT ACCCCTCCCCCCACCCATCCCTCCTCCGCCCCCCCCCTCCAGCCTACCCC TCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0000 a0004c0003t0005g0000	1	406	0.0025	207	c.32 others(218): Show c.3201_*3202insGCCCATTCCCTCCTCCAGCCTACCCCTCCCCCCA CCCATCCCTCCTCCCTCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCC CTCCTCCTCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCGCCCCCCC CCTCCAGCCTACCCCTCCCCCCG	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2360		chr6	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(200): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGCGGGGGGGAGGGGGGCGGGGGGGAGGGGAGGGGGGCGGGGG GGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	364	0.0028	207	c.-20 others(216): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGCGGGGGGGAGGGGGGCGGGGGGGAGGGG AGGGGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GALNT9_chr12_132191372_132334589	132304425	G G	GCACACCC others(200): Show GCACACCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCAGAC ACGCCCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCAC ACCCTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACAG CCTCGCCGGGCACACGCTCACCCAGACACACCCTCGCCCGGGCACACCCT CACCCAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	183	0.0055	207	c.239 others(226): Show c.239-17996_239-17995insTCTGGGTGAGGGTGTGCCCGGGCGAG GGTGTGTCTGGGTGAGCGTGTGCCCGGCGAGGCTGTGCCCGGGCGAGGCT GTGCCCGGGTGAGGGCGTGTCTGGGTGAGGGTGTGCCCCGGTGAGGATGT GCCCGGGTGAGGGTGTGCCCGGGTGAGGGCGTGTCTGGGTGAGGGCGTGT CTGGGTGAGGGTGTGCCCCGGTGAGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)