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
SNTG2_chr2_945849_1372613	1012995	TGGGCAGA others(474): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATG GGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGG GTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGG CAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGT GGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGG ATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCA GAGAGAAGGGTGGTCTGTAGAGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	190	0.0053	-481	c.72+ others(17): Show c.72+61950_72+62430del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTLL8_chr22_50013575_50063298	50028631	TACCCTCG others(474): Show TACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCA TCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACGC TGTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCC TAAAGACCCCACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGA CCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCA CACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAA GACCCCATCACACCATCCTGAAGACCCCACAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0145 a0002c0002t0002g0145	1	224	0.0045	-481	c.225 others(19): Show c.2251+1318_2251+1798del		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
ADARB2_chr10_1172313_1742525	1236981	TACTCCCC others(473): Show TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATT CCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCC CCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCC CCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	106	0.0094	-480	c.136 others(19): Show c.1362-3616_1362-3137del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237061	TCTGCCTC others(473): Show TCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCC TGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTC CCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCC TCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTCACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0023 a0001c0001t0023g0023	1	106	0.0094	-480	c.136 others(19): Show c.1362-3696_1362-3217del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADCY9_chr16_3957653_4121442	4017047	TCAGCTAC others(473): Show TCAGCTACTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAAATG AAGGCTGCAGTGAGCTATGACTGTGTCACTATGCTCCAGCCTAGGTGATA GGGTGAGACCCTGTCTCAAATATAATAATAATATTAATAATACAATAAAA TAAACTAAATACAGTAATGTGAACATCAACAAGGTGCAATAATTCTGAGA TTTAGAGAAGAAATAAAATAAAGCTGGGAAGAAATACACCCTCCCTGAGA ATACAAGGTAGAGTGAGCAGTAGCAGGTAAATGAAAAATATTAAAGGCTT AGAAATAGATAATGTGGGCCAGGCATGGTGGCTCACACCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGGGGTTGCTTGAGGTCAGGAGTTCAAGAC CAGCCTGACCAACATGGTAAAACCCTGTCTCTACTGAAAATACGAAAATT AGCCAGGCGTGGTGATGCACGCCTGTAATCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00642.hp1 others(18): Show HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG01978.hp2 HG03942.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19079.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0002c0005 a0002c0049 a0010c0045	a0001c0001t0122 a0001c0001t0128 a0001c0003t0005 others(13): Show a0001c0001t0122 a0001c0001t0128 a0001c0003t0005 a0001c0003t0013 a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 a0001c0007t0129 a0001c0009t0023 a0001c0009t0035 a0001c0010t0023 a0001c0012t0117 a0002c0005t0003 a0002c0005t0007 a0002c0049t0033 a0010c0045t0002	a0001c0001t0122g0205 a0001c0001t0128g0319 a0001c0003t0005g0202 others(18): Show a0001c0001t0122g0205 a0001c0001t0128g0319 a0001c0003t0005g0202 a0001c0003t0005g0204 a0001c0003t0005g0207 a0001c0003t0005g0208 a0001c0003t0013g0189 a0001c0007t0001g0066 a0001c0007t0001g0150 a0001c0007t0003g0161 a0001c0007t0005g0160 a0001c0007t0129g0320 a0001c0009t0023g0184 a0001c0009t0023g0188 a0001c0009t0035g0186 a0001c0010t0023g0078 a0001c0012t0117g0291 a0002c0005t0003g0121 a0002c0005t0007g0122 a0002c0049t0033g0203 a0010c0045t0002g0290	21	320	0.0656	-480	c.169 others(19): Show c.1694-9969_1694-9490del		ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/10						chr16	TogoVar
ATP10A_chr15_25673712_25868327	25757997	CCTAACTC others(473): Show CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCTATCACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0160 a0004c0004t0001g0160	1	300	0.0033	-480	c.655 others(19): Show c.655-22336_655-21857del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
BOP1_chr8_144257045_144296438	144281084	TCTCACTT others(473): Show TCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTC TTAGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTC ATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	398	0.0025	-480	c.310 others(17): Show c.310-5260_310-4781del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
C1orf159_chr1_1076823_1121089	1077827	CGGGGACT others(473): Show CGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGGCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	326	0.0031	-480	c.45 others(11): Show c.4586_*5065del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3995		chr1	TogoVar
COL23A1_chr5_178232618_178595393	178525019	CGGCTAAG others(473): Show CGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCC CAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGC GCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATG GCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTG GTAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCT CACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGA AGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCC CGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGC GCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATG GCGACACAGCGCGCAGACCCCGGGACCCGAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0121 a0002c0003t0002g0121	1	236	0.0042	-480	c.361 others(19): Show c.361+35183_361+35662del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525130	AGGACCCG others(473): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03669.hp2 HG00408.hp2 HG03669.hp2	a0001 a0010 a0001 a0010	a0001c0004 a0010c0017 a0001c0004 a0010c0017	a0001c0004t0004 a0010c0017t0003 a0001c0004t0004 a0010c0017t0003	a0001c0004t0004g0023 a0010c0017t0003g0018 a0001c0004t0004g0023 a0010c0017t0003g0018	2	236	0.0085	-480	c.361 others(19): Show c.361+35072_361+35551del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525190	GGGACCCG others(473): Show GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG02145.hp2 HG02809.hp1 HG02965.hp2 NA18951.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0005 others(2): Show a0001c0001 a0002c0003 a0003c0005 a0003c0023 a0004c0006	a0001c0001t0003 a0002c0003t0004 a0003c0005t0003 others(2): Show a0001c0001t0003 a0002c0003t0004 a0003c0005t0003 a0003c0023t0010 a0004c0006t0003	a0001c0001t0003g0122 a0002c0003t0004g0221 a0003c0005t0003g0125 others(2): Show a0001c0001t0003g0122 a0002c0003t0004g0221 a0003c0005t0003g0125 a0003c0023t0010g0236 a0004c0006t0003g0172	5	236	0.0212	-480	c.361 others(19): Show c.361+35012_361+35491del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL5A1_chr9_134636803_134849843	134849237	GATCACAC others(473): Show GATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACGGGA TCACACCTCCCAGGAACCACAATATCACACCTCCCAGGAACCACGATATC ACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGATATCAC ACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGATCACAC CTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATCACACCT CCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACACCTCC CAGGAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGACCCCCCA GGGAGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCTCCCGGG GAAGACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCCCAGTGA GCGTGGGATCACACCTCCCAGGAAGCATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0040 a0001c0005t0006g0040	1	272	0.0037	-480	c.69 others(11): Show c.6935_*7414del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4395		chr9	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	CGGGGAGA others(473): Show CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0052 a0002c0001t0052	a0002c0001t0052g0156 a0002c0001t0052g0156	1	386	0.0026	-480	c.198 others(17): Show c.198+2190_199-1941del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931681	CGAGGAGA others(473): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0031 a0004c0007t0031	a0004c0007t0031g0201 a0004c0007t0031g0201	1	386	0.0026	-480	c.198 others(17): Show c.198+2050_199-2081del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933385	GAGAGGAA others(473): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0132 a0002c0001t0010g0132	1	386	0.0026	-480	c.198 others(15): Show c.198+346_198+825del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DLGAP2_chr8_732628_1713476	1015260	CGACGCCT others(473): Show CGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGT GTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAG GACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCA CTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-480	c.73+ others(19): Show c.73+107296_73+107775del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(473): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0257 a0001c0002t0028g0257	1	339	0.0030	-480	c.454 others(17): Show c.454-2983_454-2504del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	167741	CATGGTCT others(473): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	339	0.0030	-480	c.454 others(17): Show c.454-4017_454-3538del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
EXOC2_chr6_480154_698139	601802	GTGCGAAT others(473): Show GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCC ACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGT GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCC ACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGT GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCC ACACACATTCTCACACCAAGAACACCCCGTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18973.hp2 HG01081.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0188 a0001c0002t0001g0253 a0001c0001t0002g0188 a0001c0002t0001g0253	2	272	0.0074	-480	c.743 others(17): Show c.743-3057_743-2578del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27						chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109209	TCTCCCTC others(473): Show TCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCC CTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCC TCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCC CCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC TCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0186 a0002c0011t0001g0186	1	404	0.0025	-480	c.197 others(17): Show c.1976+704_1977-331del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT9_chr12_132191372_132334589	132233453	TCCCTAGT others(473): Show TCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTG GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	183	0.0055	-480	c.107 others(21): Show c.1077+13977_1077+14456del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303398	CGGGCACA others(473): Show CGGGCACACCCTCACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCCG GGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAGA CACACCCTCGCCTGGGCACACCCTCACCCGGGCACAGCCTCACCCGGGCA CACCCTCACCCAGACACAGCCTCGCCCGGGCACACCCTCGCCCGGGCACA CCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACC CTCGCCTGGGCACACCCTCACCCGGGCACAGCCTCACCCGGGCACACCCT CACCGGGGCACACCCTCACCCGGGCACACCCTCACCCAGACACACCCTCA CCCGGGCACACCCTCACCGGGGCACACCCTCACCCGGGCACACCCTCACC CAGACACACCCTCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCG GACACACCCTCGCCCAGACACACCCTCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0057 a0001c0011t0001g0057	1	183	0.0055	-480	c.239 others(19): Show c.239-17448_239-16969del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GIP_chr17_48953554_48973596	48959852	CCACAGGA others(473): Show CCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATG GGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTC GGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGG CCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATG GGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTC GGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCGGGACATAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGG CCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATG GGCTCAGCTCTGTGTGTAGGGACAGGCGGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02738.hp2 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0005 a0006c0006 a0002c0002 a0003c0005 a0006c0006	a0002c0002t0001 a0003c0005t0001 a0006c0006t0001 a0002c0002t0001 a0003c0005t0001 a0006c0006t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(72): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0184 a0003c0005t0001g0137 a0006c0006t0001g0163	184	406	0.4532	-480	c.452 others(16): Show c.452+554_452+1033del		GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5						chr17	TogoVar
GMDS_chr6_1618806_2250605	2201463	TGAGATGA others(473): Show TGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGA AGGATGAAGAGAGAGCACCACATGGGCATCCGAGATGAAACCATCTAGGC AGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGAAGACAGAACACCA CATGGACATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGC AGAGAGGTGAAGGATGAAGAGAGAGCACCACATGGGCATCCGAGATGAAA CCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGAAGA CAGAGCACCACATGGGCATCCGAGATGTAACCATCTAGGCAGTGAGGACA GCATGTTAGCAGAGAGGCGAAGGATGAAGAGAGAGCACCACATGGGCATC CGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGGGAGGTGA AGGATGAAGAGAGAGCACCACATGGACATCC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	166	0.0060	-480	c.102 others(19): Show c.102+43378_102+43857del		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10						chr6	TogoVar
INPP5F_chr10_119721050_119834147	119794615	ACCTCCCG others(473): Show ACCTCCCGTACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGTGGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCTCCCAGAAGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCTCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGTGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTC	A A	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	328	0.0031	-480	c.670 others(17): Show c.670-2092_670-1613del		INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79808191	GAGCTGCC others(473): Show GAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGACACACTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	312	0.0032	-480	c.-11 others(21): Show c.-115+10189_-115+10668del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808251	AAGCTGCC others(473): Show AAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG00738.hp2 others(40): Show HG00558.hp2 HG00642.hp1 HG00738.hp2 HG01099.hp1 HG01255.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG02027.hp2 HG02040.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18980.hp2 NA18986.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp1 NA19064.hp2 NA19074.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0052 others(40): Show a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0101 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0238 a0002c0002t0001g0030 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0002g0031 a0002c0002t0002g0035 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0086 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0105 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0064 a0002c0004t0001g0065	43	312	0.1378	-480	c.-11 others(21): Show c.-115+10357_-115+10836del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808965	TCTGAGGA others(473): Show TCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCC GCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGC TCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCTCGCTCTGAGGAGCTGCCGGGGACACACTGACCA CACTCCACGTTACGGTCCCAGAGTCCTCGCC	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	312	0.0032	-480	c.-11 others(21): Show c.-115+10971_-115+11450del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
LRRC23_chr12_6899822_6919229	6909076	ATATTATA others(473): Show ATATTATATAATTATATATTATATATAATATATAATTACATATAATATAT AATATATAATTATATATTATATATTATATATTATATATAAAATATATAAT ATATAATTATATATTATATATAATATATAATTATATATAATATATATAAT TAGATATAATATATAATTATATATTATATATAATTATATATAATATATTA TATATAATTATATATAATACATAAATATATATAATAGTATATATTATATA TAATATATATAATATATAAATATATATAATAGTATATTATATATAATATA TTTTATATAATATATAAATATTATATATAATAGTATATTATATATAATAT ATAAATATTATATATAATAGTATATAATATATAATATATAATATATATTT TATATATTATATAATATATTATATATTATATATATAATAACTCCACAGGA AGCCACTGAAATATTTAGTCTTTTAGACTCT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG01891.hp2 others(34): Show HG00544.hp1 HG00621.hp1 HG01891.hp2 HG01993.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02630.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03471.hp1 HG03516.hp2 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp2 NA18947.hp2 NA18951.hp1 NA18960.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0003c0006 others(2): Show a0001c0001 a0003c0003 a0003c0006 a0003c0011 a0004c0004	a0001c0001t0002 a0003c0003t0003 a0003c0006t0003 others(4): Show a0001c0001t0002 a0003c0003t0003 a0003c0006t0003 a0003c0006t0004 a0003c0011t0003 a0004c0004t0003 a0004c0004t0007	a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 others(17): Show a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0003c0003t0003g0004 a0003c0003t0003g0007 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0038 a0003c0003t0003g0189 a0003c0003t0003g0190 a0003c0003t0003g0191 a0003c0006t0003g0007 a0003c0006t0004g0038 a0003c0011t0003g0017 a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0049 a0004c0004t0003g0050 a0004c0004t0003g0051 a0004c0004t0007g0052	37	316	0.1171	-480	c.622 others(15): Show c.622-811_622-332del		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195775455	CCATACCT others(473): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCGATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACATCCATACCTTCCACACCCTTACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACGGCCATACCTTCCACGGTCATACCTTCCACACCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACAGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0104 a0104	a0104c0030 a0104c0030	a0104c0030t0005 a0104c0030t0005	a0104c0030t0005g0232 a0104c0030t0005g0232	1	249	0.0040	-480	c.129 others(21): Show c.12944-1630_12944-1151del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775592	ATACCTTC others(473): Show ATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACAGTCATACCTTCCACACCCATACCTTCCACACCGATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACACCC TTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACC TTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCATACCTTCCA CACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCA CAGTCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACGGCC ATAACTTCCACACCCATACCTTCCACACCCT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0036 a0037 a0036 a0037	a0036c0150 a0037c0149 a0036c0150 a0037c0149	a0036c0150t0007 a0037c0149t0006 a0036c0150t0007 a0037c0149t0006	a0036c0150t0007g0189 a0037c0149t0006g0079 a0036c0150t0007g0189 a0037c0149t0006g0079	2	249	0.0080	-480	c.129 others(21): Show c.12944-1767_12944-1288del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195783304	GAAGTGTC others(473): Show GAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGA AGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAG TGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTG TCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTC GGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAG TGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTG ACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTGAC AAGAAGAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAG GAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGA AGAGGGGTGGCCTGACCTGTGGATGCTGAGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02040.hp2 NA18979.hp2 NA18982.hp1 others(2): Show HG02040.hp2 NA18979.hp2 NA18982.hp1 NA18998.hp1 NA19086.hp1	a0011 a0119 a0170 a0011 a0119 a0170	a0011c0008 a0011c0028 a0119c0078 others(1): Show a0011c0008 a0011c0028 a0119c0078 a0170c0110	a0011c0008t0001 a0011c0028t0001 a0119c0078t0001 others(1): Show a0011c0008t0001 a0011c0028t0001 a0119c0078t0001 a0170c0110t0001	a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 others(2): Show a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0119c0078t0001g0099 a0170c0110t0001g0103	5	249	0.0201	-480	c.779 others(9): Show c.7796_8275del	p.Tyr others(15): Show p.Tyr2599_Thr2758del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8387/16756	7796/16239	2599/5412			chr3	TogoVar
NACAD_chr7_45075437_45093969	45083858	CGAGAGAT others(473): Show CGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCT GGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCA GCCACAGGCTTTGGGGCTGACGAGAGATCTGTGTCTTGTAGGGGCAGAGG CGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCT GGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGATCT GTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGT GAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCT TTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATA ACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAT CGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 HG02602.hp1	a0055 a0055	a0055c0043 a0055c0043	a0055c0043t0001 a0055c0043t0001	a0055c0043t0001g0040 a0055c0043t0001g0040	1	410	0.0024	-480	c.184 others(9): Show c.1842_2321del	p.Ser others(13): Show p.Ser615_Ser774del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2396/4836	1842/4689	614/1562			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799065	TGGTGGTG others(473): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TAATGGTGGTGGTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0043 a0001c0002t0008g0043	1	178	0.0056	-480	c.185 others(19): Show c.1855-4785_1855-4306del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RFX7_chr15_56082280_56248879	56110543	GGGGGGGT others(473): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTG AGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCTGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0211 a0001c0001t0013g0211	1	360	0.0028	-480	c.402 others(17): Show c.402-7353_402-6874del		RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9						chr15	TogoVar
RNF223_chr1_1065967_1079306	1077827	CGGGGACT others(473): Show CGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGGCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	324	0.0031	-480	c.-43 others(11): Show c.-4301_-3822del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3522		chr1	TogoVar
RPH3AL_chr17_207389_357807	287633	TCTCTCCA others(473): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGAGCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGA CCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACTCTCTCTCCACCGA CAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACTCTCTCTCCA CCGTCAGACCTCACTCCCTCTCTCCACCGACAGACCTCACACTCTCTCTC CACCGACAGAGCTCACACTCTCTCTCCACCGTCAGACCTCACTCTCTCTC TCCACCGTCAGACCTCCCACCCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTC CCTCTCTCCACCGTCAGACCTCACTCCGTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	133	0.0075	-480	c.352 others(17): Show c.352-6259_352-5780del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SH3GLB1_chr1_86699576_86753184	86752704	ATTTCTAT others(473): Show ATTTCTATCATATACTCATAAAATGACCAGCTTTATTTCATGTAACTTCC TGATGAATGCCTCAAGATAAATTTGTGTTATAATAACCCTAGGAAACTAA ATGAATTTACCTTCTACCCAGGCTGTTTGAATGTAAATCAATTACATGTT ACAGAAGACTGAAATGATAGTGGTTTTATAATCGTCCACAAGCCATTCTT TCTGAGAGCATTTACCTAGCAAGTCCAGTAGAAATTAAATTTGTGGTTGC GTACCTTCAAGCAAATTGTTCACTTAATTTCTCAGCCCCACAGATTTTTT TATCTGTAAAATAAAAGGATTAAACCAGATGATCTCTAAGGTCCATCTAG CTCTTGCTTCCTAACATGTTCTAAACAAGCCAAAGTTGTTCATGTTTTAA TAATAACTAATGTTAAACCCACAATTATGAATTAACTTGAACAGCATACA CATTTCTACTGGCAGCTCGTTGATGGGGTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	318	0.0031	-480	c.94 others(11): Show c.9470_*9949del		SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding					4521		chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974533	CAGGGAAA others(473): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTGGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	150	0.0067	-480	c.532 others(19): Show c.532-45076_532-44597del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
STAT3_chr17_42308324_42393442	42337874	AACTCCTT others(473): Show AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	302	0.0033	-480	c.550 others(14): Show c.550+377_551-18del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42337881	TGACCTGA others(473): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0024 a0001c0003t0002g0145 a0001c0001t0002g0024 a0001c0003t0002g0145	2	302	0.0066	-480	c.550 others(14): Show c.550+370_551-25del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
TRPC6_chr11_101446564_101589007	101573882	AACAGTAG others(473): Show AACAGTAGTGAAGCTCCTTTCAAGCCTAAGAAACAAATACGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTTGAGAAGGGT GGAGAGTACGTAAGGAACAGTGTTGAATCAGATTTGTTTAGCAACATTCT GGAACTGTTACTCAAAACAGTCTACCTCTATGTAATTGCAAACTCAGTTT AATTGTCTAGCACCAAAAGCTTTTGGTCTATTATGGATTCTTTAGATTGT TTTAAAGAAATCCTTCATCACCAATGTCCTTTTGGCACAGAGCACAATCC TGTGGAAAAATATGGGCACTGAAGCTTCTGAGTTGAAAAGTGATTCTGAA GACTCCATCCCCAAATGTGAAGGAACTTAGGAATACCATAACAAATTTGT TTATTTTTTAATTATGTGCATAAGAGTTATATATGATCCAAATCTATATC TAATTGAGTATAAAGAACTGTTTTAAGAGGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02723.hp1 others(5): Show HG02109.hp1 HG02109.hp2 HG02723.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0002 a0001c0003t0001 a0001c0007t0002 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0007t0002 a0001c0007t0020	a0001c0002t0002g0120 a0001c0002t0002g0126 a0001c0003t0001g0122 others(5): Show a0001c0002t0002g0120 a0001c0002t0002g0126 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0007t0002g0121 a0001c0007t0002g0125 a0001c0007t0020g0163	8	252	0.0318	-480	c.170 others(17): Show c.170+8972_170+9451del		TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12						chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028645	CCCCATCA others(473): Show CCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTAAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCCATCACGCTGTCCTAAAGACCC CCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCACAT ACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAA GACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCA TCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACC ATCCTGAAGACCCCACACACCCTCGTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03831.hp2 HG02486.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0001 a0004c0004t0003	a0004c0004t0001g0125 a0004c0004t0003g0197 a0004c0004t0001g0125 a0004c0004t0003g0197	2	224	0.0089	-480	c.225 others(19): Show c.2251+1305_2251+1784del		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
VAV2_chr9_133756894_133997324	133827732	CGGGCATC others(473): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCA CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTA CCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACT GCTGTGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0152 a0002c0001t0001g0152	1	200	0.0050	-480	c.449 others(17): Show c.449+6060_449+6539del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827984	CCTACCGC others(473): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGC TGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGACCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01243.hp1 HG00639.hp1 HG01175.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0131 a0001c0004t0002g0023 a0001c0004t0002g0196 a0001c0004t0001g0131 a0001c0004t0002g0023 a0001c0004t0002g0196	3	200	0.0150	-480	c.449 others(17): Show c.449+5808_449+6287del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ZNF516_chr18_76352682_76500242	76392936	CAGGTGGT others(473): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0265 a0001c0001t0023g0265	1	346	0.0029	-480	c.181 others(21): Show c.1811-13113_1811-12634del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF835_chr19_56656980_56676757	56669497	AGGGGCCT others(473): Show AGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTAT CAGGAGTCCTCCATTAGCATAAATGTACTTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0041 a0011c0015t0041	a0011c0015t0041g0095 a0011c0015t0041g0095	1	450	0.0022	-480	c.-48 others(17): Show c.-48+1599_-48+2078del		ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1						chr19	TogoVar
ANKRD53_chr2_70973630_70990499	70990020	ATTCTGAG others(472): Show ATTCTGAGTAAAATTAGAAGAAGGCTCTTTGCATGTTATAAAAGTGAGAC TTCTATGTTACATAATCCAAAGCATCATGACGATGAACCTCGTTTTTCGT GGATGTGAGGGCTAAAGAAAGCTCTCCCACAGTGACAGGTGGGGAGAAAT CATGGGTGTGCAGACCAGACGCCCCTAAGAGGCTCTACTCCAAACTCGCA GCAAGGAGAAGGCCTGCTCAAATAAACAAACTGGGCAGCAAGGAGAAGGC CTGCTCAAATAAAAAGGCTCTCACTCCTCAGGAATAAAAGGGCAAGACTT GCTAGATGCTTTGAGGTGCAGTCTTCAGGTTCCTCAACATTCTGGGGGAG GGGGTCCCTCCTCATCCTGCCCCCAGGTAAGGCATACCGGTGTGAACTGA TACGTTCTGGACACACACACACACACAGCCACCCCTCCTTGGTGTGTAAC TGAGTTTATAAAAGAGGGCACGTGTGCATA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	-479	c.47 others(11): Show c.4721_*5199del		ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding					4522		chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144531235	AAGGGCAC others(472): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGG CTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	246	0.0041	-479	c.298 others(17): Show c.2980+591_2981-365del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11						chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531294	AAGGGCAC others(472): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0019 a0001c0007t0017g0019	1	246	0.0041	-479	c.298 others(17): Show c.2980+532_2981-424del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11						chr8	TogoVar

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Search Results (Total: 10000 hits)