Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STON1_chr2_48525154_48603513	48555813	GGGTGGGG others(240): Show GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0012 a0006c0011t0012	a0006c0011t0012g0270 a0006c0011t0012g0270	1	376	0.0027	-247	c.-47 others(19): Show c.-47-24771_-47-24525del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48555961	GGGTGGGG others(240): Show GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGGGGCGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01993.hp2 others(6): Show HG01496.hp1 HG01515.hp1 HG01993.hp2 HG02683.hp2 HG03017.hp1 NA18747.hp2 NA18951.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0001g0260 others(6): Show a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0001g0260 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0003t0008g0161 a0001c0003t0008g0163	9	376	0.0239	-247	c.-47 others(19): Show c.-47-24623_-47-24377del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133292024	TCTGTGTC others(240): Show TCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	284	0.0035	-247	c.121 others(17): Show c.1214+228_1214+474del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
VAV2_chr9_133756894_133997324	133827245	CTGAGCGG others(240): Show CTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG01123.hp1 others(12): Show HG00408.hp1 HG01109.hp2 HG01123.hp1 HG01943.hp1 HG02015.hp1 HG02040.hp1 HG02738.hp1 HG03017.hp1 HG03704.hp2 NA18948.hp1 NA18948.hp2 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0023 a0002c0001 others(1): Show a0001c0002 a0001c0023 a0002c0001 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0023t0019 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0023t0019 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0018 a0002c0001t0020 a0002c0005t0001	a0001c0002t0001g0046 a0001c0002t0002g0179 a0001c0023t0019g0138 others(12): Show a0001c0002t0001g0046 a0001c0002t0002g0179 a0001c0023t0019g0138 a0002c0001t0001g0022 a0002c0001t0001g0072 a0002c0001t0001g0111 a0002c0001t0001g0123 a0002c0001t0001g0148 a0002c0001t0001g0154 a0002c0001t0002g0067 a0002c0001t0002g0071 a0002c0001t0004g0142 a0002c0001t0018g0200 a0002c0001t0020g0106 a0002c0005t0001g0129	15	200	0.0750	-247	c.449 others(17): Show c.449+6780_449+7026del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827629	CTGAGTGG others(240): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0133 a0002c0001t0001g0133	1	200	0.0050	-247	c.449 others(17): Show c.449+6396_449+6642del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827821	CTGAGTGG others(240): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01517.hp1 HG00544.hp1 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0009 a0002c0001t0001g0063 a0001c0002t0002g0009 a0002c0001t0001g0063	2	200	0.0100	-247	c.449 others(17): Show c.449+6204_449+6450del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZNF516_chr18_76352682_76500242	76394444	AAGGCAGG others(240): Show AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0342 a0001c0001t0155g0342	1	346	0.0029	-247	c.181 others(21): Show c.1811-14388_1811-14142del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288921	TCCCCCGT others(239): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	-246	c.43 others(11): Show c.4397_*4642del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3469		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1396916	TGCAGGCT others(239): Show TGCAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGTGGAGGCTT CCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCA CCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTC TCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTC CCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	1	106	0.0094	-246	c.101 others(19): Show c.101-18002_101-17757del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144634144	AGAACTCC others(239): Show AGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCA GGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGC AGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGT CTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCC TGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18967.hp1 HG03927.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0135 a0001c0002t0009g0028 a0001c0001t0001g0135 a0001c0002t0009g0028	2	246	0.0081	-246	c.-81 others(19): Show c.-81-28695_-81-28450del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF4_chr2_130831914_131052253	130902484	CTCGGGAG others(239): Show CTCGGGAGGCTGTGGTGGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTG CAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAG ACTCCATCTCAAAAATGAAAGGAAAGAAAAGAAGAAAAGAGAAGAAAAAA GGAAAAGAAAAGAAAAGAGAACCAAGCATGTTGTAGTTGGTAGCACGCAA GCCCTGCATATGTAATCCTCTCGGCACATTATGTTGACATTTTCCCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	144	0.0069	-246	c.40- others(17): Show c.40-11501_40-11256del	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	1/13			chr2	TogoVar
ATP11A_chr13_112685038_112892168	112786079	CTCACCGT others(239): Show CTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGGACG GGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACACACGTG CCTGCATTCATACTCCATTTATCTTCACCGTCCTTCAAAATGGATGAGCT AAACCCACGCACACGCGTGGACGGGCTGCACATGGGGTAAACTGTGCTTT CCAGGTAATGCGGAACGCACGTGCCTGCGTTCAGACTCCGTTTATCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02922.hp2 others(4): Show HG01891.hp1 HG02622.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0020 others(1): Show a0001c0001 a0001c0002 a0001c0020 a0004c0015	a0001c0001t0021 a0001c0001t0067 a0001c0002t0001 others(4): Show a0001c0001t0021 a0001c0001t0067 a0001c0002t0001 a0001c0002t0015 a0001c0002t0053 a0001c0020t0008 a0004c0015t0002	a0001c0001t0021g0092 a0001c0001t0067g0093 a0001c0002t0001g0091 others(4): Show a0001c0001t0021g0092 a0001c0001t0067g0093 a0001c0002t0001g0091 a0001c0002t0015g0163 a0001c0002t0053g0116 a0001c0020t0008g0063 a0004c0015t0002g0087	7	254	0.0276	-246	c.162 others(16): Show c.162+915_162+1160del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79335974	ACACCAGG others(239): Show ACACCAGGAGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGC ACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCG CCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAG GCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCT CCCTGGCACCAGGCGCTCCCCTCGCCTGTCCCCAGCACCGCCATGTG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	298	0.0034	-246	c.202 others(17): Show c.2029-649_2029-404del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82974875	CGACTCCA others(239): Show CGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACCAGGGCCC CAGGACAGAGCCGGACTCCATCCTCCCAGGGACCGGAGGCCACTATGGAG AGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCCGGAGG CCACTTATGGGGAACCAGGGCCCCAGGACAGAGCCCGACTCCATCCTCCC AGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 NA18522.hp2 HG00639.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0037g0259 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0037g0259	3	266	0.0113	-246	c.460 others(17): Show c.460-9375_460-9130del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82976331	GAGGGCCC others(239): Show GAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGGCCAGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAG AGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01361.hp2 HG01978.hp1 others(2): Show HG00280.hp1 HG01361.hp2 HG01978.hp1 HG02683.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0005t0003	a0001c0001t0001g0179 a0001c0001t0002g0160 a0001c0001t0002g0163 others(2): Show a0001c0001t0001g0179 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0006g0157 a0002c0005t0003g0155	5	266	0.0188	-246	c.460 others(19): Show c.460-10831_460-10586del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CAMTA1_chr1_6780454_7774706	7115394	ACCTGAGA others(239): Show ACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGAAAA CCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGAAAAC CTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGAAAAAT CTAAGAACCAGGAGAGCTGATGATGTTGTTCCAGTCTGAATCTGAAAGCC TGAGACCCAGGAGAGCTGATGATGTTGTTCCAGTCTGAATCTGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0010 a0001c0002t0010g0010	1	58	0.0172	-246	c.302 others(19): Show c.302+24047_302+24292del	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCNY_chr10_35331509_35577667	35549588	GTGCTCAT others(239): Show GTGCTCATGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCTCGTG ACCCTGCGCTGCTCATGGCCCATGACCCTACACTGTTCGTGACCCTGCGC TGCTCATGGTCCGTGACCCTACACTGCTTGTGACCCTGCGCTGCTCATGG CCCATGACCCTACAGTGCTCGTGACCCTGCGCTGCTCATGACACATGACC CTACAGTGCTCGTGACCCTGCGCTGCTCATGGCCCATGACCCTACAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0135 a0003c0004t0009g0136 a0003c0004t0009g0137 a0003c0004t0009g0135 a0003c0004t0009g0136 a0003c0004t0009g0137	3	296	0.0101	-246	c.580 others(17): Show c.580-3425_580-3180del	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHL1_chr3_191763_414417	208286	GCCTTAAA others(239): Show GCCTTAAAAACCCATTACTGTATTTAACAGTAAAACAATCTGCCACAGCC TAGTATTTACTGCCTCAATTAAGCATGCATTCCACTTCCTTTGCCCCTCC AAATTCAGAACTGGTGAGGAGAGACAGAAAGGAGTGTGTCATCATTTCCC AAGTTCATTGAAATATTAGGTTTGGGTTGTTTGATTGTCTCGGCAGAAAG CTAGACTATATCCTCAGTGGGAGACTAGTTGAGCTACACTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02258.hp1 others(6): Show HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0007	a0001c0001t0005 a0002c0002t0002 a0002c0002t0007 others(3): Show a0001c0001t0005 a0002c0002t0002 a0002c0002t0007 a0003c0003t0001 a0003c0003t0007 a0008c0007t0001	a0001c0001t0005g0242 a0002c0002t0002g0250 a0002c0002t0007g0244 others(6): Show a0001c0001t0005g0242 a0002c0002t0002g0250 a0002c0002t0007g0244 a0003c0003t0001g0249 a0003c0003t0007g0239 a0003c0003t0007g0247 a0003c0003t0007g0248 a0008c0007t0001g0243 a0008c0007t0001g0245	9	290	0.0310	-246	c.-17 others(21): Show c.-175+11225_-175+11470del	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587781	GCCCCCGT others(239): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	348	0.0029	-246	c.927 others(15): Show c.927+694_928-634del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1268235	GTGTGTGT others(239): Show GTGTGTGTGCAGGACTGTGCCAGTGTGCTTGTTTGTGCAGATGTGTGTGC AGATATGTGTGTAGCTGTGTGTATGCCCATGTGCACTGTGTGCAGGTGTG TGGGGATGTGTGTGTGCAGGTCTGTGTGTGCAGTTGTGTGTGCAGACATG CATATGTGTGCAGGTGTGTGTGCAGATGTGTGTGTAGCTGTGTGTACGCC CGTGCGCACTGTGTGCAGGTGTGTGGAGATGTGTGTGTGTGCAGGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00639.hp1 others(46): Show HG00408.hp2 HG00423.hp1 HG00639.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02683.hp1 HG02922.hp1 HG03491.hp1 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 NA18943.hp1 NA18954.hp1 NA18961.hp1 NA18969.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0015 others(5): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0006c0022 a0010c0012 a0011c0021 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0015t0003 a0002c0003t0004 a0006c0022t0004 a0010c0012t0004 a0011c0021t0004 a0012c0011t0010	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 others(46): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0034 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0003g0046 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0004g0049 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0065 a0001c0001t0004g0072 a0001c0001t0012g0062 a0001c0002t0001g0052 a0001c0002t0001g0077 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0004g0050 a0001c0002t0004g0058 a0001c0002t0004g0063 a0001c0002t0004g0083 a0001c0002t0008g0082 a0001c0015t0003g0081 a0002c0003t0004g0088 a0006c0022t0004g0073 a0010c0012t0004g0089 a0011c0021t0004g0074 a0012c0011t0010g0054	49	159	0.3082	-246	c.-73 others(9): Show c.-734_-489del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		578		chrX	TogoVar
DCAKD_chr17_45018344_45056632	45051828	CGGGGCCG others(239): Show CGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTG GGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAG AGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACG CGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGG CGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG03139.hp1 others(1): Show HG02572.hp2 HG02896.hp1 HG03139.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0069 a0001c0001t0006 a0001c0001t0069	a0001c0001t0006g0274 a0001c0001t0006g0276 a0001c0001t0006g0310 others(1): Show a0001c0001t0006g0274 a0001c0001t0006g0276 a0001c0001t0006g0310 a0001c0001t0069g0275	4	408	0.0098	-246	c.-82 others(9): Show c.-828_-583del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		197		chr17	TogoVar
DDX51_chr12_132131594_132149319	132134721	CCCGAGTG others(239): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA19005.hp1 HG01243.hp2 NA19005.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0003 a0004c0004t0038 a0002c0002t0003 a0004c0004t0038	a0002c0002t0003g0006 a0004c0004t0038g0079 a0002c0002t0003g0006 a0004c0004t0038g0079	2	334	0.0060	-246	c.43 others(11): Show c.4305_*4550del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1872		chr12	TogoVar
DMD_chrX_31114222_33216549	33009567	TGTGTATA others(239): Show TGTGTATATACACATATGTGTGTATGTGTGTATGTGTATATACACATATG TGTGTATGTGTGTATGTGTATATACACATATGTGTGTATACGTGTATATG TGTATACGTATATGTGTATATGCACATATGTGTGTATACGTATATGTGTA TATGTGTGTATATGTGTATATACACACATATGTGTATATGTGTGTATATG TGTATATACACACATATGTGTATATGTGTGTATATGTGTATATACAC	T T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0003 a0006c0032t0003	a0006c0032t0003g0077 a0006c0032t0003g0077	1	126	0.0079	-246	c.93+ others(17): Show c.93+10326_93+10571del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009569	TGTATATA others(239): Show TGTATATACACATATGTGTGTATGTGTGTATGTGTATATACACATATGTG TGTATGTGTGTATGTGTATATACACATATGTGTGTATACGTGTATATGTG TATACGTATATGTGTATATGCACATATGTGTGTATACGTATATGTGTATA TGTGTGTATATGTGTATATACACACATATGTGTATATGTGTGTATATGTG TATATACACACATATGTGTATATGTGTGTATATGTGTATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	126	0.0079	-246	c.93+ others(17): Show c.93+10324_93+10569del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
ERICH1_chr8_659200_736224	675691	ACGCGGCG others(239): Show ACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0129	1	378	0.0027	-246	c.305 others(17): Show c.305-1890_305-1645del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAM118A_chr22_45304934_45346955	45328005	CCTTTGGC others(239): Show CCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGAC AAGACCAAGGTATGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCGGCAGA ACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTATGGGCT GGGGGTGCGGGAGGTCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCC TGGACTTGAAGGACAAGACCAAGGTATGGGCTGGGGGTGCGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0236 a0009c0012t0003g0236	1	416	0.0024	-246	c.522 others(14): Show c.522+85_522+330del	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FOXN3_chr14_89151177_89422233	89360812	CTCCACCA others(239): Show CTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACC ACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCACCTC CAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCT CCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	230	0.0044	-246	c.544 others(19): Show c.544-10250_544-10005del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361898	CCACCACT others(239): Show CCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG CACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCT CCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTACC ACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0197 a0001c0001t0053g0197	1	230	0.0044	-246	c.544 others(19): Show c.544-11336_544-11091del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GCN1_chr12_120122202_120199715	120152387	GCGCACAC others(239): Show GCGCACACACACACACACACACACAAAATATATATATATAAATATATATA TATTTATATATATATACATGCGTGTTTTTCAAAACAAAGAAAAAGAAATT TATTTGCACTGTAGCTTAGAGGCTACATTAAAACGCACCTGTAGCCTCCT AAAGCACTGGGATTATAGGCATGAGCCACCACGCCCAGCCCAACTGTTCA CTTTATGAAGACACTCTAAGTGGTCCAAAATGCAAACCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0079 a0001c0014t0001g0079	1	312	0.0032	-246	c.406 others(17): Show c.4062+580_4062+825del	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	33/57			chr12	TogoVar
GCN1_chr12_120122202_120199715	120152391	ACACACAC others(239): Show ACACACACACACACACACACAAAATATATATATATAAATATATATATATT TATATATATATACATGCGTGTTTTTCAAAACAAAGAAAAAGAAATTTATT TGCACTGTAGCTTAGAGGCTACATTAAAACGCACCTGTAGCCTCCTAAAG CACTGGGATTATAGGCATGAGCCACCACGCCCAGCCCAACTGTTCACTTT ATGAAGACACTCTAAGTGGTCCAAAATGCAAACCACACACACACGCG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0030 a0001c0031t0002g0030	1	312	0.0032	-246	c.406 others(17): Show c.4062+576_4062+821del	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	33/57			chr12	TogoVar
GCN1_chr12_120122202_120199715	120152429	TATATATA others(239): Show TATATATATATTTATATATATATACATGCGTGTTTTTCAAAACAAAGAAA AAGAAATTTATTTGCACTGTAGCTTAGAGGCTACATTAAAACGCACCTGT AGCCTCCTAAAGCACTGGGATTATAGGCATGAGCCACCACGCCCAGCCCA ACTGTTCACTTTATGAAGACACTCTAAGTGGTCCAAAATGCAAACCACAC ACACACGCGCACACACACACACACACACACAAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0004 a0006c0033t0004	a0006c0033t0004g0107 a0006c0033t0004g0107	1	312	0.0032	-246	c.406 others(17): Show c.4062+538_4062+783del	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	33/57			chr12	TogoVar
KCNV2_chr9_2712510_2735037	2722050	AATAAATT others(239): Show AATAAATTAGAAGTTATTTATAAATAAATTAGAAGTTATTTATAAATAAA TTAGAAGTTATTTATAAATAAATTAGAAGTTATTTATAAATAAATTAGAA GTTATTTATAAATAAATTAGAAGTTATTTATAAATAAAATAGAAGTTATT TATTTATAAATAAATTAGAAGTTATTTATTTATAAATAAATTAGAAGTTA TTTATTTACAAATTAGAAGTTATTTATTTACAAATTAGAAGTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01169.hp2 others(1): Show HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0106 a0001c0002t0002g0028 a0001c0002t0002g0106	4	442	0.0091	-246	c.135 others(19): Show c.1356+3070_1356+3315del	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KRTAP21-3_chr21_30713525_30723777	30720557	CAGGTCAT others(239): Show CAGGTCATCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCC AGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(116): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03942.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	119	408	0.2917	-246	c.-20 others(11): Show c.-2044_-1799del	KRTAP21-3	ENSG00000231068.1	transcript	ENST00000444335.1	protein_coding		1781		chr21	TogoVar
LHPP_chr10_124456823_124619141	124507456	GGATAGGG others(239): Show GGATAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	260	0.0039	-246	c.624 others(17): Show c.624+9330_625-9477del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19452105	GAAGAGAA others(239): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02630.hp1 HG01884.hp2 HG02055.hp1 HG02630.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0002c0023 a0009c0019 a0002c0002 a0002c0023 a0009c0019	a0002c0002t0003 a0002c0023t0011 a0009c0019t0002 a0002c0002t0003 a0002c0023t0011 a0009c0019t0002	a0002c0002t0003g0137 a0002c0023t0011g0002 a0009c0019t0002g0148 a0002c0002t0003g0137 a0002c0023t0011g0002 a0009c0019t0002g0148	3	163	0.0184	-246	c.995 others(17): Show c.995+4562_995+4807del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452135	GAAGAGAA others(239): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0153 a0002c0002t0018g0153	1	163	0.0061	-246	c.995 others(17): Show c.995+4532_995+4777del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MCF2L_chr13_112964214_113104742	113012350	GGTGGACA others(239): Show GGTGGACACTGTGATGCGGACGGTGGACAGGCAGTGTGGACGGTGGACAC TGTGATGCGGACGGTGGACAGGCAGTGTGGACGGTGGACACTGCAGTGCG GATGGTGGACAGGTGGTGTGGATGGTGGACAGGCGGTGTGGACGGTGGAC AGGCTGGGTGGATGGTGGACACTGCAATGAGGACGGTGGACACTGCGATG AGGACAGTGGACAGGTGGTGTGGACGGTGGACACTGCAGTGTGGACT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	116	0.0086	-246	c.80- others(15): Show c.80-2381_80-2136del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
NKD2_chr5_1003802_1043943	1023486	GCTGTGGG others(239): Show GCTGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	319	0.0031	-246	c.142 others(17): Show c.142-8647_142-8402del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023505	GTTGTCTC others(239): Show GTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	319	0.0031	-246	c.142 others(17): Show c.142-8641_142-8396del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023703	TCAGCCCA others(239): Show TCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGG GCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02004.hp1 NA18962.hp2 others(1): Show HG00438.hp1 HG02004.hp1 NA18962.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009	a0001c0001t0005g0003 a0001c0001t0005g0091 a0001c0001t0008g0094 others(1): Show a0001c0001t0005g0003 a0001c0001t0005g0091 a0001c0001t0008g0094 a0001c0001t0009g0096	4	319	0.0125	-246	c.142 others(17): Show c.142-8438_142-8193del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024031	CCAGCCCG others(239): Show CCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC TCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp1 HG03579.hp2 others(1): Show HG00642.hp1 HG01891.hp1 HG03579.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0144 a0001c0001t0001g0225 a0001c0001t0003g0118 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0225 a0001c0001t0003g0118 a0001c0001t0012g0123	4	319	0.0125	-246	c.142 others(17): Show c.142-8092_142-7847del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024113	CCAGCCCA others(239): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC CCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGG GCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG00738.hp1 others(11): Show HG00099.hp2 HG00673.hp1 HG00738.hp1 HG01109.hp1 HG01258.hp2 HG02027.hp2 HG02056.hp2 HG02683.hp1 HG02897.hp2 NA18944.hp1 NA18960.hp2 NA18992.hp1 NA18999.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0137 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0226 a0001c0001t0003g0013 a0001c0001t0006g0269 a0002c0003t0001g0034 a0002c0003t0001g0211	14	319	0.0439	-246	c.142 others(17): Show c.142-8010_142-7765del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024142	TCTGTGGG others(239): Show TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	319	0.0031	-246	c.142 others(17): Show c.142-7998_142-7753del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024356	GTCTCAGC others(239): Show GTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTG TGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	319	0.0031	-246	c.142 others(17): Show c.142-7793_142-7548del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024612	ATTGTCCC others(239): Show ATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCC AGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	319	0.0031	-246	c.142 others(17): Show c.142-7479_142-7234del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024675	GCTGTGGG others(239): Show GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCC TGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03704.hp2 HG02886.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0218 a0001c0001t0003g0108 a0001c0001t0001g0218 a0001c0001t0003g0108	2	319	0.0063	-246	c.142 others(17): Show c.142-7465_142-7220del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024806	CGTCCCAG others(239): Show CGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGC CCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCC CTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTC CCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCT GTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(6): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG03654.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 others(4): Show a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0110 a0001c0002t0003g0262	9	319	0.0282	-246	c.142 others(17): Show c.142-7335_142-7090del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025208	TCTGTGGG others(239): Show TCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	319	0.0031	-246	c.142 others(17): Show c.142-6864_142-6619del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025454	GCTGTGGG others(239): Show GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCC CACCCTCTGTGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(7): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG03654.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 others(5): Show a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0110 a0001c0002t0003g0262	10	319	0.0314	-246	c.142 others(17): Show c.142-6686_142-6441del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026330	TCGGTCCA others(239): Show TCGGTCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCGGCCCAT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTTTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAT CTGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGG GTGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18972.hp2 NA18951.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0093 a0001c0001t0005g0003 a0001c0001t0005g0093	2	319	0.0063	-246	c.142 others(17): Show c.142-5820_142-5575del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)