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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TUBGCP5_chr15_22994177_23044569	23042977	CACCTGGC others(252): Show CACCTGGCCAGAGGTCCTGGGGGACTTCATAACCCCACCTGGCCAGAGGT GCTGGGGGGACATCATAACTTCACCTGGCCAGAGGTGCTGGGGGGTATCA TAATCCCACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACCTGCC AGAGGTGCTGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGT GCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGATT TCATAACCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0260 a0002c0005t0002g0260	1	351	0.0029	-259	c.-36 others(11): Show c.-3693_-3435del		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3409		chr15	TogoVar
ABCC1_chr16_15944616_16148053	16003242	CTGGTGGG others(251): Show CTGGTGGGTTGCTGGATGGGTGGATGAATTGGTAGGTGGGTGGATGGATG GATTGATGGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGATGAATTG GTGGATGGGTAGGTGGATGGATGAATGAACTGGTGGGTTGCTGGATGGGT GGATGAATTGGTAGGTGGGTGGATGGATGGATGGATGGGTGAATGAATTG GTAGGTGGGTAGGGTGGATGGGTGAATTAGTGGATGGGTAGGTGCATGGA TGAATGAAT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03017.hp2 HG03654.hp2 others(1): Show HG02523.hp2 HG03017.hp2 HG03654.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0032 a0001c0002 a0001c0004 a0001c0032	a0001c0002t0001 a0001c0002t0007 a0001c0004t0002 others(1): Show a0001c0002t0001 a0001c0002t0007 a0001c0004t0002 a0001c0032t0007	a0001c0002t0001g0012 a0001c0002t0007g0121 a0001c0004t0002g0226 others(1): Show a0001c0002t0001g0012 a0001c0002t0007g0121 a0001c0004t0002g0226 a0001c0032t0007g0229	4	249	0.0161	-258	c.49- others(15): Show c.49-4563_49-4306del		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABR_chr17_998519_1184981	1065093	CGCTGCTG others(251): Show CGCTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCT GTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTATGT GAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTTACGTGAACTGA GGGCTATGCATGTTCCTCTAGACACTGCTGTTACGTGAACTGAGGGCTAT GCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTT CCTCTAGAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG03130.hp2 others(2): Show HG02486.hp2 HG02647.hp1 HG03130.hp2 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0008 a0001c0002t0011 a0001c0002t0092 others(2): Show a0001c0002t0008 a0001c0002t0011 a0001c0002t0092 a0001c0004t0024 a0001c0013t0018	a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0092g0336 others(2): Show a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0092g0336 a0001c0004t0024g0041 a0001c0013t0018g0108	5	337	0.0148	-258	c.118 others(19): Show c.1182+1726_1182+1983del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22						chr17	TogoVar
ABR_chr17_998519_1184981	1118912	CTTCCCAG others(251): Show CTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAG CCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGCGTTA TCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAG TTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCAGCGTTATCCCTGA GCCTGAGTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0300 a0001c0001t0010g0300	1	337	0.0030	-258	c.246 others(17): Show c.246+6013_246+6270del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ANAPC2_chr9_137169784_137193560	137184320	CACAGAGC others(251): Show CACAGAGCAGACACGACGAAGGCCCTGGGAGCCCCAGATGCAGACAAAGA GCAGACACGGTGAAGGCACGGGGAGCCCAGACGCAGACACAGGGAGCCCA GACGCAGACACAGAGCAGACACGGTGAAGGCACAGGGAGCCCAAGACGCA GACACAGAGCAGACACGGCGAAGGCACAGGGAGCCCAGATGCAGACACAG AGCAGACACAGCGAAGGCCCTGGGAGCCCCAGACGCAGACACAGGGAGCC CAGACGCAG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	416	0.0024	-258	c.104 others(17): Show c.1048+335_1049-530del		ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	4/12						chr9	TogoVar
C5orf46_chr5_147887722_147911538	147893445	TGGCTAAT others(251): Show TGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACAGTTTTAGCC AGAATGGTCTCGATCTCCTGATCTCATGATTTGCCTGCCTCAGCCTCCCA AAGTGCTGGGATTACGAGCCACAGTTTCGCTCTTGTTGCCCTGGCTGGAG TGCAGTGGCTTGATCTTGGTTTACCACAACCTCTGCCTCCCTGGTTCAAG CGATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGATTACTGGCATGTGCC ACCATGCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0094 a0003c0002t0001g0094	1	452	0.0022	-258	c.10 others(15): Show c.10-764_*10-507del		C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding	3/3						chr5	TogoVar
CAMK1D_chr10_12344547_12840545	12615452	GTGTGTAG others(251): Show GTGTGTAGGTGTGAGTGTGTGCACGTGTGTAGGTGTGTGCATGTGTACAT GTATAGTTATGTGTGTGTATATCGGTGTGTGTGCATGTGTACATGTGTAG TTATGTGTGTATATCGTGTGTGTGCGTGTGTGTAGGTGTGTATTGTGTTT GCAAGTATGTATACGTATGTGTAGTGTGAGTGCACGTGTTTGTACAGGTA TGTGTTTATTTGAAAGTGTATTTGTGTATAGGTGTGTGTGGTTTGTAGGT GTCTATAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0109 a0001c0001t0090 a0001c0001t0109	a0001c0001t0090g0115 a0001c0001t0109g0161 a0001c0001t0090g0115 a0001c0001t0109g0161	2	214	0.0094	-258	c.225 others(19): Show c.225-51265_225-51008del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDK12_chr17_39456486_39539544	39498951	CTTTCTTT others(251): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	260	0.0039	-258	c.242 others(19): Show c.2420-2295_2420-2038del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CHCHD6_chr3_126699240_126965420	126862795	ACCTTCCC others(251): Show ACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCATCACCAC CTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACCTCCTCCT CCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACCTTCCCCTCT ACCACCATCACCAACTCCCCCTCCTCCACCATCACCACCTCCTCCTCCAC CATCACCACCTCCTCCTCCACCATCACTACCTCCTCCTCCTCCACCATCA CCACCTCCT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	216	0.0046	-258	c.495 others(19): Show c.495+10069_495+10326del		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHSY1_chr15_101170727_101257048	101214617	TGGTGGGA others(251): Show TGGTGGGAGGTGGCTGGATCATGGAGGTGGATTTCTCATGCATAGGTGGG AGGTGGCTGGATCATGGAGGTGGATTTCTCATGCATAGGTGGGAGGTGGC TGGATCATGGAGGTGGATTTCTCATGCATAGGTGGGAGGTGGCTGGATCA TGGAGGTGGATTTCTCATGCATAGGTGGGAGGTGGCTGGATCATGGAGGT GGATTTCTCATGCATAGGTGGGAGGTGGCTGGATCATGGAGGTGGATTTC TCATGCATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp2 HG02165.hp1 others(7): Show HG02071.hp1 HG02132.hp2 HG02165.hp1 NA18941.hp2 NA18967.hp1 NA18969.hp2 NA18992.hp1 NA19076.hp2 NA19086.hp1 NA19088.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0039 a0001c0008t0040 others(1): Show a0001c0008t0010 a0001c0008t0039 a0001c0008t0040 a0001c0008t0044	a0001c0008t0010g0034 a0001c0008t0010g0035 a0001c0008t0010g0037 others(7): Show a0001c0008t0010g0034 a0001c0008t0010g0035 a0001c0008t0010g0037 a0001c0008t0010g0039 a0001c0008t0010g0040 a0001c0008t0010g0041 a0001c0008t0010g0048 a0001c0008t0039g0042 a0001c0008t0040g0046 a0001c0008t0044g0102	10	422	0.0237	-258	c.816 others(19): Show c.816+20207_816+20464del		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CSMD1_chr8_2930361_4999914	3558164	AGCACCCC others(251): Show AGCACCCCGTGTCCACTCCTCCAATGATGAATAGTGCCTCAGTAGTACCC CGTATCCCCTCCTCCAATGACAAATAGTGCCTCAATAGTACCCTGTGTCC ACTCCTCCAGTGATGAATGGTGCCTCAATGGAACTCCGTGTTCACTCCTC CAATGATGAATGATGCCTCAGTAGTACCCCGTGTCCACTCCTCCAATGAT GAATGGTGCCTCAGTAGTACCCCGTGTCCACTTCTCCAATGATGAACGGT GCCTCAATG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0003 a0002c0072t0003	a0002c0072t0003g0066 a0002c0072t0003g0066	1	126	0.0079	-258	c.134 others(21): Show c.1344+16523_1344+16780del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
ERICH1_chr8_659200_736224	714268	GGCATCTC others(251): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACC CAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGG CCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	378	0.0027	-258	c.169 others(17): Show c.169+1335_169+1592del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
GABRG1_chr4_46030769_46129054	46117810	ATGTGTAT others(251): Show ATGTGTATCTATATACATATATACATATGTATACATGTGTATCTATATAC ATATATACATATGTATACATGTGTATCTATATACATATATACATATGTAT ACATGTGTATCTATATACATATATACATATGTATACATGTGTATCTATAT ACATATATACATATGTATACATGTGTATCTATATACATATATACATATGT ATACATGTGTATCTATATACATATATACATATGTATACATGTGTGTATGT ATACATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02809.hp2 others(3): Show HG02451.hp2 HG02647.hp1 HG02809.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 others(3): Show a0001c0001t0006g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032	6	308	0.0195	-258	c.104 others(17): Show c.104+5742_104+5999del		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241806500	CTCCCCCC others(251): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	2	314	0.0064	-258	c.23 others(11): Show c.2335_*2592del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2214		chr2	TogoVar
GGT1_chr22_24598193_24633996	24605570	AATGTGTA others(251): Show AATGTGTATTATATATATAATATTATATAATGTGTATTATATATATAATA TTATATAATGTGTATTATATATATAATATTATATAATGTGTATTATATAT TTAATATTATATAATGTGTATTATATATTTAATATTATATAATGTGTATT ATATATTATATAATATTATATAATGTGTATTATATATTATATAATATTAT ATAATGTGTATTATATATTATATAATATATGATGTGTATTATATATTATA TATTATATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02723.hp2 others(2): Show HG02572.hp1 HG02615.hp2 HG02723.hp2 HG03130.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0011t0005 a0001c0001t0001 a0002c0002t0001 a0002c0011t0005	a0001c0001t0001g0250 a0001c0001t0001g0255 a0002c0002t0001g0253 others(2): Show a0001c0001t0001g0250 a0001c0001t0001g0255 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0011t0005g0251	5	426	0.0117	-258	c.-42 others(19): Show c.-429+2059_-428-2111del		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GSG1L_chr16_27782528_28068714	27805396	GGGGTGGG others(251): Show GGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGCT GTGGGCACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGG GGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTG GGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGT GGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGC ACTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02109.hp2 HG02523.hp2 others(1): Show HG00621.hp2 HG02109.hp2 HG02523.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0023 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0023 a0001c0005t0023	a0001c0001t0001g0207 a0001c0002t0001g0048 a0001c0002t0023g0014 others(1): Show a0001c0001t0001g0207 a0001c0002t0001g0048 a0001c0002t0023g0014 a0001c0005t0023g0011	4	240	0.0167	-258	c.898 others(17): Show c.898+1833_898+2090del		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6						chr16	TogoVar
GZMA_chr5_55097646_55115252	55106013	AATAAAAT others(251): Show AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02129.hp1 NA18989.hp2 others(1): Show HG00597.hp2 HG02129.hp1 NA18989.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0076 a0001c0001t0001g0016 a0001c0001t0001g0076	4	390	0.0103	-258	c.215 others(15): Show c.215+397_215+654del		GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
HDAC4_chr2_239043168_239406020	239086115	CTCTGCTC others(251): Show CTCTGCTCTAACACGCGGATCTGACTATCTCGCACGTACAGTCTCTTCCC TGTACACGAAGGAGACTCTGCTCTAACACGCGGATCTGACTATCTCTCAC GTACAGTCTCCTCCCTGCACATGAAGGAGACTCTGCTCTAACACGCGGAT CTGACTATCTCGCACGTAGTCTCTTCCCTGTACACGAAGGAGACTCTGCT CTAACACGCGGATCTGACTATCTCGCACGTACAGTCTCCTCCCTGTACAT GAAGGAGAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0221 a0001c0008t0001g0221	1	242	0.0041	-258	c.244 others(19): Show c.2444+1186_2444+1443del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	19/26						chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834455	GGCCTGGA others(251): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp1 HG02145.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0381 a0001c0001t0001g0384 a0001c0001t0001g0381 a0001c0001t0001g0384	2	394	0.0051	-258	c.128 others(14): Show c.128-355_128-98del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
KNDC1_chr10_133155219_133231412	133222674	TGTGTGTG others(251): Show TGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTG CATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCGTG AGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCA GCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0297 a0001c0003t0003g0297	1	332	0.0030	-258	c.501 others(19): Show c.5019-1973_5019-1716del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	960892	CAGACTCA others(251): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATC ACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03195.hp1 HG02698.hp1 HG03195.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0014c0040 a0001c0002 a0014c0040	a0001c0002t0001 a0014c0040t0004 a0001c0002t0001 a0014c0040t0004	a0001c0002t0001g0062 a0014c0040t0004g0270 a0001c0002t0001g0062 a0014c0040t0004g0270	2	294	0.0068	-258	c.194 others(17): Show c.194-6484_194-6227del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LRBA_chr4_150259435_151020284	150420479	AATATATA others(251): Show AATATATATAAAGTATATATAATACACATTATAATATATATAAAGTATAT ATAATACACATTATAATATATATAAAGTATATATAATACACATTATAATA TATATAAAGTATATATAATACACATTATAATATATATAAAGTATATATAA TACACATTATAATATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	180	0.0056	-258	c.704 others(19): Show c.7042-5147_7042-4890del		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56						chr4	TogoVar
LYG2_chr2_99237246_99260666	99251896	GGCCATTC others(251): Show GGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTG CCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGTGTATCAC TGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCTTGATCCGCCTGCCT CGGCCTCCCAAAGTGCAGGGATTACAGGTGTGAGCCACCGTGCCCAGCCC AAAAATTTTTACAGGTGAAATGTTTTTATCTCACTGCAAGCTCCGCCTCC CAAGTTCAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(184): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0006 a0001c0001 a0003c0003 a0004c0006	a0001c0001t0001 a0003c0003t0001 a0004c0006t0001 a0001c0001t0001 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0003c0003t0001g0277 a0003c0003t0001g0278 a0004c0006t0001g0299	187	426	0.4390	-258	c.43+ others(15): Show c.43+2064_43+2321del		LYG2	ENSG00000185674.10	transcript	ENST00000333017.7	protein_coding	3/6						chr2	TogoVar
LYPD8_chr1_248734415_248760759	248752789	CACACACC others(251): Show CACACACCACACCCCACAACACACACACATCACATCACACACACCACACC CCACACACACACACCACACCACACACACACCACACACCCCACACAACACA TACACACATCACACACACCCCACACACCAACACACCACATCACACACACA CCACATCACACACACACCAAACACCCCACACAACACACACACAACACAAC ACACACACAAACACACCACATCATACACACACCACACACCCCACACACCA CACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0143 a0002c0002t0001g0144	2	374	0.0054	-258	c.-49 others(17): Show c.-49-1917_-49-1660del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6						chr1	TogoVar
MAPK1_chr22_21754657_21872645	21814457	GTACTTAA others(251): Show GTACTTAAAAATGATTAAGATGGCAAATTGTATGCTTTTTACCAAAACAT ATAATTAACCAAAACAATTTTACTTTGTAAAGAGATGAAGTCTCGGCTGG GCACGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAAGCTGAGGTGGG TGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCTAACATGGTGAAAC ACTGTCTCTACTAAAAATACAAGAATTAGCAGGGCGTGGTGGCACGCGCC TGTAATCCC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	348	0.0029	-258	c.120 others(17): Show c.120-6869_120-6612del		MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8						chr22	TogoVar
MINK1_chr17_4828340_4903061	4869513	GTGATCCT others(251): Show GTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTCACATTACAGGCGTGGGC CACTGTACCTGACGATTTTTTCTCTTTTGGATATATACCCAGCAGTGGTA TTGCCCGATCTTACGATAGTTCTGTTTTCAGTTTTTTGAGGAACCTGCTT ACTGTTGTCCATAGAGGCTGTACTAATTTAGATTCCCACCAAAAGTGTAT AAGAGTTCCCCTTTCTCCATATCCTTGGCAGCATCTCTTTTTTTTTTTGT CTTTTTAAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0349 a0001c0004t0019g0349	1	360	0.0028	-258	c.58- others(15): Show c.58-8803_58-8546del		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31						chr17	TogoVar
NEU4_chr2_241804193_241822413	241806500	CTCCCCCC others(251): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	319	0.0031	-258	c.-27 others(11): Show c.-2777_-2520del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2692		chr2	TogoVar
NPIPB4_chr16_21829582_21862756	21836977	CTTGAGAT others(251): Show CTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCAG CAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGG GGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGG TGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTG CTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGT GTCTTGAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 HG02559.hp1	a0047 a0047	a0047c0042 a0047c0042	a0047c0042t0002 a0047c0042t0002	a0047c0042t0002g0112 a0047c0042t0002g0112	1	204	0.0049	-258	c.115 others(9): Show c.1152_1409del	p.Asn others(13): Show p.Asn384_Leu469del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1624/4020	1152/3669	384/1222			chr16	TogoVar
OPRL1_chr20_64075082_64105633	64093722	GGGGGCAG others(251): Show GGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGTGCGCAGTGTGGGGG TCAGTGTGGGGGCAGTGTGGGGGTCAGTGTGGGGGTCAGTGTGGGGGCAG TGTGGGGGGGGCAGTGTGGGGGCAGTGTGTGGGGACAGTGTGGGGGCAGT GTGGGGTCAGTGTGGGGGTCAGTGTGGGGGCAGTGTGGGGGGGGGCAGTG TGGGGGCAGTGTGTGGGGACAGTGTGGGGGCAGTGTGGGGTCAGTGTGGG GGTCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0018 a0001c0006t0005g0018	1	66	0.0152	-258	c.233 others(16): Show c.233+774_233+1031del		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
P2RX5_chr17_3668227_3701155	3685946	ACACAGCG others(251): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	362	0.0028	-258	c.981 others(17): Show c.981+1808_981+2065del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687629	CCCCCCGC others(251): Show CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	362	0.0028	-258	c.981 others(15): Show c.981+125_981+382del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PEX5_chr12_7184686_7216459	7196789	ATAATTAT others(251): Show ATAATTATATATGTCACATAATGTAATAATTATATATGTCACATATAATG TAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATAT AATGTAATAATTATATATGTCACATATAATGTAATAATTATATGTCACAT ATAATGTAATAATTATATGTCACATATAATGTAATAATTATATATGTCAC ATATAATGTAATAATTATATATGTCACATATAATGTAATTATATATGTCA CATATAATG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01517.hp2 HG02300.hp1 HG01258.hp2 HG01517.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0119 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0119	3	428	0.0070	-258	c.449 others(17): Show c.449-2202_449-1945del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLD5_chr1_242077986_242529697	242394188	ATATGAGT others(251): Show ATATGAGTATATATATGTGTATATGAGTATATATATGTGTATATATATGA GTATATATATGTGTATATATATGAGTATGAGTATATATATGTGTATATAT ATGAGTATATATATGAGTATATATGTGTGTATATATGAGTATATATGTGT GTATATATGAGTATATATGTGTGTATATATGAGTATATATGTGTGTATAT ATGAGTATATATGTGTGTATATATGAGTATATATGTGTGTATATGAGTAT ATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18970.hp2 HG02027.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0074 a0001c0001t0010 a0001c0002t0074	a0001c0001t0010g0084 a0001c0002t0074g0163 a0001c0001t0010g0084 a0001c0002t0074g0163	2	188	0.0106	-258	c.190 others(19): Show c.190-46204_190-45947del		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar
PLEKHA4_chr19_48832097_48873617	48834455	GGCCTGGA others(251): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03453.hp1 HG02145.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0227 a0002c0002t0002g0094 a0002c0002t0001g0227 a0002c0002t0002g0094	2	300	0.0067	-258	c.25 others(11): Show c.2576_*2833del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2641		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2122601	GGCGGTGG others(251): Show GGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTG GTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	286	0.0035	-258	c.335 others(19): Show c.335-12659_335-12402del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF213_chr17_80255852_80403794	80314226	GTGAAGGT others(251): Show GTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGATGGT GGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGG TGATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTG GAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGT ACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGG TGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01517.hp1 others(1): Show HG01109.hp1 HG01257.hp2 HG01517.hp1 HG03834.hp1	a0002 a0084 a0002 a0084	a0002c0002 a0002c0061 a0084c0051 a0002c0002 a0002c0061 a0084c0051	a0002c0002t0003 a0002c0002t0009 a0002c0061t0004 others(1): Show a0002c0002t0003 a0002c0002t0009 a0002c0061t0004 a0084c0051t0013	a0002c0002t0003g0230 a0002c0002t0009g0105 a0002c0061t0004g0190 others(1): Show a0002c0002t0003g0230 a0002c0002t0009g0105 a0002c0061t0004g0190 a0084c0051t0013g0110	4	292	0.0137	-258	c.281 others(19): Show c.2811+1062_2811+1319del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
SKI_chr1_2223319_2315213	2281691	CGAGAGGA others(251): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	330	0.0030	-258	c.970 others(19): Show c.970-21282_970-21025del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282118	TGCCCGAG others(251): Show TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGAC	T T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0202 a0001c0001t0008g0202	1	330	0.0030	-258	c.970 others(19): Show c.970-20817_970-20560del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282161	CGCCCGAG others(251): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp2 NA19070.hp1 HG00738.hp2 HG02258.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0002g0320 a0001c0001t0003g0032 a0001c0001t0012g0067 a0001c0001t0002g0320 a0001c0001t0003g0032 a0001c0001t0012g0067	3	330	0.0091	-258	c.970 others(19): Show c.970-20752_970-20495del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1071778	ATGCAGCC others(251): Show ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGTATCACACTTAT GCAGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	118	0.0085	-258	c.224 others(19): Show c.2241+1597_2241+1854del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SMOC2_chr6_168436184_168672992	168561766	GCATTCTT others(251): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAA GGCTCTCAC	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	180	0.0056	-258	c.637 others(19): Show c.637+12564_637+12821del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12						chr6	TogoVar
SSNA1_chr9_137183676_137195366	137184320	CACAGAGC others(251): Show CACAGAGCAGACACGACGAAGGCCCTGGGAGCCCCAGATGCAGACAAAGA GCAGACACGGTGAAGGCACGGGGAGCCCAGACGCAGACACAGGGAGCCCA GACGCAGACACAGAGCAGACACGGTGAAGGCACAGGGAGCCCAAGACGCA GACACAGAGCAGACACGGCGAAGGCACAGGGAGCCCAGATGCAGACACAG AGCAGACACAGCGAAGGCCCTGGGAGCCCCAGACGCAGACACAGGGAGCC CAGACGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-258	c.-44 others(11): Show c.-4406_-4149del		SSNA1	ENSG00000176101.12	transcript	ENST00000322310.10	protein_coding					4355		chr9	TogoVar
ST3GAL3_chr1_43702536_43936159	43905475	TGTTCCCC others(251): Show TGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTG TCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCTGCCACTGTTTCTCCC CCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTC TCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTG TTTCTCCCCCTCCTTCTGCCCCCCTTCCCACCACTCTTCCTCCCCCTCCT CCTGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA21309.hp2 HG02970.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0152 a0001c0001t0001g0069 a0001c0001t0001g0152	2	274	0.0073	-258	c.744 others(17): Show c.744+5749_744+6006del		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11						chr1	TogoVar
TPGS1_chr19_502497_524654	523206	GGGGGCTC others(251): Show GGGGGCTCAGCATTTCCGGTGAGCACGGGCCGAGGGCTCAGCAGCAATTC CGGTGAGCACGGGCCGGGGGCTCAGCATTTCAGTGAGCACGGGCCGGGGG CTCGGCATTTCCAGTGAGCACGGGCCGGGTGCTCCGCAGCATTTCCGGTG AGCACGGGCCGGGGGCTCAGCAGCATTTCCGGTGAGCACGGGCCGGGGGC TCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCAGCATTTCCGGTGA GCACGGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	-258	c.37 others(11): Show c.3784_*4041del		TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding					3553		chr19	TogoVar
USP40_chr2_233470526_233571782	233567534	CTATATAA others(251): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	324	0.0031	-258	c.-11 others(10): Show c.-1128_-871del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					753		chr2	TogoVar
USP40_chr2_233470526_233571782	233567560	CTATATAA others(251): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAA GATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18984.hp2 NA19056.hp2 NA18944.hp2 NA18984.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0185 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0185	3	324	0.0093	-258	c.-11 others(10): Show c.-1154_-897del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					779		chr2	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(251): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01978.hp1 others(7): Show HG00099.hp2 HG00639.hp1 HG01978.hp1 HG02074.hp1 HG02258.hp2 NA18955.hp2 NA18990.hp2 NA19002.hp2 NA19058.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0003c0003t0002 a0001c0001t0001 a0001c0001t0005 a0003c0003t0002	a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0303 a0003c0003t0002g0142 a0003c0003t0002g0145 a0003c0003t0002g0148 a0003c0003t0002g0153 a0003c0003t0002g0163 a0003c0003t0002g0168	10	324	0.0309	-258	c.-12 others(10): Show c.-1232_-975del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					857		chr2	TogoVar
USP40_chr2_233470526_233571782	233567664	CTATATAA others(251): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA18967.hp2 NA19068.hp1 HG01243.hp1 NA18967.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0002 a0001c0001t0005 a0003c0003t0002	a0001c0001t0005g0309 a0003c0003t0002g0147 a0003c0003t0002g0160 a0001c0001t0005g0309 a0003c0003t0002g0147 a0003c0003t0002g0160	3	324	0.0093	-258	c.-12 others(11): Show c.-1258_-1001del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					883		chr2	TogoVar
USP40_chr2_233470526_233571782	233567690	CTATATAA others(251): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0013 a0008c0011t0013	a0008c0011t0013g0286 a0008c0011t0013g0286	1	324	0.0031	-258	c.-12 others(11): Show c.-1284_-1027del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					909		chr2	TogoVar
VGLL4_chr3_11551069_11648915	11604773	ATTCTATG others(251): Show ATTCTATGATCAACAAGTGACCAACCAACTAACCAACATTTACAAAGAAA TTGCTACTTGTGTAATGGTGAACTAAGACAGCAAAACTCAAGGTATGTAC CTCAGATGTTATTCATCGAAAAAAACAAGGGTGACCCTGGGGTCAAATAA ATTTGGAAACCGTGAGATTGAACAACTTTTACAGGAGTTTAACTACAGGC CTTTCTGTCTTCTAATGCATCTCAGTCTCTGAGATGGAAACCCCGCAGGG CTGCTTTCC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	388	0.0026	-258	c.83- others(15): Show c.83-3009_83-2752del		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4						chr3	TogoVar

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Search Results (Total: 10000 hits)