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
SMYD3_chr1_245744347_246512279	245975517	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	150	0.0067	-288	c.532 others(19): Show c.532-45868_532-45581del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975805	TAGGGAAA others(281): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	150	0.0067	-288	c.532 others(19): Show c.532-46156_532-45869del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976069	TAGGGAAA others(281): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	150	0.0067	-288	c.532 others(19): Show c.532-46420_532-46133del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976141	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	150	0.0067	-288	c.532 others(19): Show c.532-46492_532-46205del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976261	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0124 a0002c0007t0001g0124	1	150	0.0067	-288	c.532 others(19): Show c.532-46612_532-46325del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976664	CAGCCCAG others(281): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA GCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGC CTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT AGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAG GGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGG AAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	150	0.0067	-288	c.532 others(19): Show c.532-47015_532-46728del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976669	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19086.hp2 NA18965.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0002 a0001c0001t0001 a0001c0014t0002	a0001c0001t0001g0075 a0001c0014t0002g0091 a0001c0001t0001g0075 a0001c0014t0002g0091	2	150	0.0133	-288	c.532 others(19): Show c.532-47020_532-46733del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SPAG16_chr2_213279464_214415501	213488799	CAGAGGCG others(281): Show CAGAGGCGGTGCTCACGTCTGTAATCCCACCACTTTGGGAGGCCAAGGCG GGAGGATCACCTGAGGTAGGGAGTTTGAGACCAGCCTGGCCAATATGGTG AAAACCGTCTACTAAAAATACAAAAAATTACCCGGGCGTGGTGGCACGCG CCTGTAGTCCCAGCTACGCAGGAGGCTGAGGCACGGGAATCGCCTGAATC CGGAAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCAATCCATCC TGGGCAACAAAGCGAGACTCCATCTCAAAAACGAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19087.hp1 HG02015.hp1 NA19087.hp1	a0009 a0010 a0009 a0010	a0009c0009 a0010c0007 a0009c0009 a0010c0007	a0009c0009t0001 a0010c0007t0001 a0009c0009t0001 a0010c0007t0001	a0009c0009t0001g0085 a0010c0007t0001g0083 a0009c0009t0001g0085 a0010c0007t0001g0083	2	86	0.0233	-288	c.943 others(16): Show c.943-1162_943-875del		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
TAFA4_chr3_68726766_68937547	68821327	TTTTTTTT others(281): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCACCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG00738.hp2 others(34): Show HG00558.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp1 HG02074.hp2 HG02698.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03453.hp1 HG03516.hp2 HG03654.hp2 HG03927.hp2 NA18972.hp1 NA18978.hp1 NA18984.hp2 NA18988.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023	a0001c0001t0001g0005 a0001c0001t0001g0185 a0001c0001t0001g0303 others(34): Show a0001c0001t0001g0005 a0001c0001t0001g0185 a0001c0001t0001g0303 a0001c0001t0002g0127 a0001c0001t0003g0034 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0133 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0157 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0192 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0280 a0001c0001t0003g0286 a0001c0001t0003g0292 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0004g0176 a0001c0001t0004g0191 a0001c0001t0004g0213 a0001c0001t0004g0250 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0010g0153 a0001c0001t0010g0178 a0001c0001t0013g0069 a0001c0001t0022g0277 a0001c0001t0023g0056	37	316	0.1171	-288	c.130 others(19): Show c.130+59115_130+59402del		TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5						chr3	TogoVar
TMEM255B_chr13_113754226_113821995	113790118	ATGGACAT others(281): Show ATGGACATCCTAGTGCTGGACTGACCGGGCACATGGACATCCTAACACTG AACTGACCAGACACGTGGACATCCTAACACTGAACTGACCGGGCATGTGG ACATCCTAGCGCTGGACTGACCGGGCACGTGGGCATCCTAACACTGAACT GACCAGACACGTGGACATCCTAGCACTGAACTGACTGGACACATGGACAT CCTAGCTGTGGACTGACCGGACACATAGACATCCTAGCACTGAACTGACT GGACACATGGACATCCTAGCTGTGGACTGACCGGACACG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0190 a0001c0001t0077g0190	1	260	0.0039	-288	c.253 others(17): Show c.253-5017_253-4730del		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIOBP_chr22_37692048_37781556	37724446	GCGGGACA others(281): Show GCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACA GCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCT AACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGA CAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCA GAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGA ACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp1 HG03209.hp2 HG02717.hp1 HG03209.hp2	a0025 a0025	a0025c0028 a0025c0028	a0025c0028t0022 a0025c0028t0022	a0025c0028t0022g0256 a0025c0028t0022g0258 a0025c0028t0022g0256 a0025c0028t0022g0258	2	322	0.0062	-288	c.191 others(9): Show c.1916_2203del	p.Pro others(13): Show p.Pro639_Ser734del	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	2127/10085	1916/7098	639/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
VAV2_chr9_133756894_133997324	133827203	ATGGGCAT others(281): Show ATGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02622.hp1 HG02129.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0033 a0002c0005t0013 a0002c0001t0033 a0002c0005t0013	a0002c0001t0033g0165 a0002c0005t0013g0182 a0002c0001t0033g0165 a0002c0005t0013g0182	2	200	0.0100	-288	c.449 others(17): Show c.449+6781_449+7068del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827264	CCTACCGC others(281): Show CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACT GCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTG TGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03942.hp2 HG00735.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0001 a0002c0005t0001 a0001c0004t0001 a0002c0005t0001	a0001c0004t0001g0189 a0002c0005t0001g0045 a0001c0004t0001g0189 a0002c0005t0001g0045	2	200	0.0100	-288	c.449 others(17): Show c.449+6720_449+7007del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827780	CGGGCATC others(281): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGG GGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGG CATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCAC CACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19240.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0034 a0001c0009t0002g0169 a0001c0009t0002g0034 a0001c0009t0002g0169	2	200	0.0100	-288	c.449 others(17): Show c.449+6204_449+6491del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ZHX3_chr20_41173455_41322731	41257715	AATTCTCC others(281): Show AATTCTCCTGCCTCAGCCTCCTTAGTAGCTGGGACTACAGGCACACGCCA CCATGCCTGGCTAAGTTTTCGTATTTTTAGTAGAGACGGGGTTTCACCAT GCTAGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGG CCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCACGCCCAACCCTTT TTTTTTTTGAGACGGAGTTTTGCTCTTGTCAGCCAGGCTGGGGTACAGTG GCACAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01081.hp1 others(27): Show HG00099.hp1 HG00741.hp2 HG01081.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01928.hp1 HG02056.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG04204.hp2 NA18964.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0037 a0001c0007t0001 a0001c0008t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0088 a0001c0001t0001g0155 a0001c0001t0001g0156 others(27): Show a0001c0001t0001g0088 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0004g0036 a0001c0001t0008g0257 a0001c0001t0037g0204 a0001c0007t0001g0152 a0001c0007t0001g0191 a0001c0008t0001g0211 a0002c0002t0001g0157 a0003c0005t0001g0167 a0003c0005t0001g0245 a0003c0005t0001g0246	30	360	0.0833	-288	c.-15 others(21): Show c.-151+10987_-151+11274del		ZHX3	ENSG00000174306.22	transcript	ENST00000683867.1	protein_coding	2/3						chr20	TogoVar
ADARB2_chr10_1172313_1742525	1239597	CCCCTCTG others(280): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0037 a0004c0005t0037	a0004c0005t0037g0064 a0004c0005t0037g0064	1	106	0.0094	-287	c.136 others(19): Show c.1361+2247_1361+2533del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1396795	GAGGCTTC others(280): Show GAGGCTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGGAGGCTTCC TGGGTCACCATCAGCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACC GTCCGTCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCGTCCGTCTC TCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCC GAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGG CTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00639.hp2 others(25): Show HG00408.hp1 HG00408.hp2 HG00639.hp2 HG01433.hp1 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG03017.hp1 HG03139.hp2 HG03669.hp1 NA18945.hp2 NA18967.hp2 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA19011.hp1 NA19011.hp2 NA19070.hp1 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0005c0015	a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(15): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0030 a0001c0001t0055 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0027 a0002c0002t0041 a0002c0002t0043 a0002c0002t0063 a0004c0005t0002 a0005c0015t0014	a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0098 others(25): Show a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0010g0025 a0001c0001t0011g0017 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0030g0034 a0001c0001t0055g0089 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0004g0082 a0002c0002t0004g0088 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0022 a0002c0002t0005g0028 a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0007g0001 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0043g0053 a0002c0002t0063g0091 a0004c0005t0002g0039 a0005c0015t0014g0008	28	106	0.2642	-287	c.101 others(19): Show c.101-17922_101-17636del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
AMFR_chr16_56356452_56430545	56397866	TAATATAT others(280): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATAT AAATGTATCATTTATAATATATAACTCTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02257.hp2 HG03540.hp1 others(19): Show HG00438.hp1 HG02257.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA18949.hp1 NA18956.hp2 NA18960.hp2 NA18965.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19081.hp1 NA19082.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0025 a0001c0001t0049 a0001c0001t0057	a0001c0001t0001g0201 a0001c0001t0004g0182 a0001c0001t0004g0184 others(19): Show a0001c0001t0001g0201 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0265 a0001c0001t0004g0270 a0001c0001t0013g0331 a0001c0001t0013g0334 a0001c0001t0013g0335 a0001c0001t0013g0336 a0001c0001t0013g0337 a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 a0001c0001t0017g0354 a0001c0001t0025g0183 a0001c0001t0049g0338 a0001c0001t0057g0355	22	356	0.0618	-287	c.108 others(19): Show c.1085+3580_1085+3866del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
ARHGAP39_chr8_144524179_144690846	144634144	AGAACTCC others(280): Show AGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCA GGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGC AGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGT CTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCC TGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAA CTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02717.hp1 others(3): Show HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0017 a0001c0001t0001 a0001c0002t0001 a0001c0007t0017	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(3): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0002t0001g0020 a0001c0007t0017g0019	6	246	0.0244	-287	c.-81 others(19): Show c.-81-28736_-81-28450del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
ATP11A_chr13_112685038_112892168	112787313	TGTAGACC others(280): Show TGTAGACCCCTGTGGAGACCTACTTAATTGACACCGGGTGTCCTGATGCG TAGACTCCTGTGGAGACCTACTTAATCCACACCAGTGTCCTAATGTGTAG ACCCCTGTGGAGACCTACTTAATTCACACCGGGTGTCCTGATGTGTAGAC CCCTGTGGATACCTACTTAATTCACACCGGGTGTCCTGATGCGTAGACTC CTGTGGATACCTACTTAATTCACACCGGGTGTCCTGATGTGTAGACCCCT GTGGAGACCTACTTAATTGACACCGGGTGTCCTGATGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02523.hp1 HG02523.hp2 others(2): Show HG00438.hp2 HG02523.hp1 HG02523.hp2 NA18950.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0002t0002 a0001c0011t0001	a0001c0001t0002g0206 a0001c0001t0010g0122 a0001c0001t0019g0018 others(2): Show a0001c0001t0002g0206 a0001c0001t0010g0122 a0001c0001t0019g0018 a0001c0002t0002g0190 a0001c0011t0001g0139	5	254	0.0197	-287	c.162 others(17): Show c.162+2085_162+2371del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83003790	CTCTGCAG others(280): Show CTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCACCCTCCCACTCTCTGCA GTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGA GCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCC CTCCCGCCCTCCGCATGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0231	1	266	0.0038	-287	c.459 others(17): Show c.459+1038_459+1324del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004303	CACTCTCT others(280): Show CACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTC CGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGT GGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT CGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTC CCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGT CCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0137 a0004c0017t0002g0137	1	266	0.0038	-287	c.459 others(15): Show c.459+525_459+811del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B9D2_chr19_41349417_41369149	41361791	AAAAAAGG others(280): Show AAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGA AGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCAAGACCAGCCTGG CCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGT ATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAGGAG AATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCA CTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	360	0.0028	-287	c.88+ others(15): Show c.88+1354_88+1640del		B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	2/3						chr19	TogoVar
C2CD4C_chr19_400445_414147	404513	GGGGACGG others(280): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCT GAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGA CGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGG GGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACG GGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGT GTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18970.hp2 NA18962.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	322	0.0062	-287	c.22 others(11): Show c.2296_*2582del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					931		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53919615	GGCTGGTC others(280): Show GGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCC CCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTT GCCCCAGGCTGGTCATTGGTGGAGTTGCCCAGGTCTGGTATTGGTGGAGT TGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCCCGGTATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGT GGACTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02615.hp2 others(2): Show HG01109.hp1 HG02145.hp2 HG02615.hp2 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0002g0015 a0001c0001t0006g0020 others(1): Show a0001c0001t0001g0002 a0001c0001t0002g0015 a0001c0001t0006g0020 a0001c0002t0002g0019	5	364	0.0137	-287	c.424 others(17): Show c.424+4112_424+4398del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CANT1_chr17_78986716_79014764	79004855	GGGGGGAG others(280): Show GGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGT TAGGGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGGG GGGAGTTAGGGAGATGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAG TTAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAGCTAGGGA GAGGGGGGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGG GTTAGGGAGAAGGGAGTTAGGGAGAGGGGATTTAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0182 a0001c0002t0005g0182	1	394	0.0025	-287	c.-14 others(19): Show c.-147+4522_-147+4808del		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CCNY_chr10_35331509_35577667	35549739	CCATGACC others(280): Show CCATGACCCTACAGTGCTCGTGACCCTGCGCTGCTCATGACACATGACCC TACAGTGCTCGTGACCCTGCGCTGCTCATGGCCCATGACCCTACACTGCT CGTGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCTCGTGACCCT GCGCTGCTCATGACACATGACCCTACAGTGCTCGTGACCCTGCGCTGCTC ATGACACATGACCCTACAGTGCTCGTGACCCTGCGCTGCTCATGGCCCAT GACCCTACACTGCTTGTGACCCTGCGCTGCTCATGACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02257.hp1 HG02615.hp1 HG00738.hp2 HG02257.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022	3	296	0.0101	-287	c.580 others(17): Show c.580-3180_580-2894del		CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDK12_chr17_39456486_39539544	39498921	TTCTTTCT others(280): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG02451.hp2 others(3): Show HG01109.hp1 HG01192.hp2 HG02451.hp2 HG02809.hp2 HG03041.hp2 NA19091.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0004 a0001c0001 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0036 a0003c0005t0055 a0004c0004t0017	a0001c0001t0001g0219 a0001c0001t0009g0108 a0001c0001t0015g0100 others(3): Show a0001c0001t0001g0219 a0001c0001t0009g0108 a0001c0001t0015g0100 a0001c0001t0036g0092 a0003c0005t0055g0251 a0004c0004t0017g0161	6	260	0.0231	-287	c.242 others(19): Show c.2420-2327_2420-2041del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39498923	CTTTCTTT others(280): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0097 a0001c0001t0034g0097	1	260	0.0039	-287	c.242 others(19): Show c.2420-2323_2420-2037del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CMYA5_chr5_79684836_79805222	79781701	CGTAGAGG others(280): Show CGTAGAGGTGTTTGTAGGATTCTCTGATGGTAGTTTGTATTTCTGTGGGA TCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTT CTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGA TCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTT TGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCT TCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0002 a0011c0012t0002	a0011c0012t0002g0273 a0011c0012t0002g0273	1	358	0.0028	-287	c.115 others(21): Show c.11556-7267_11556-6981del		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
COL9A3_chr20_62812050_62846159	62823966	ACGGAGTG others(280): Show ACGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGG TCCCGTCACTGTGTGGAGTGGCCTCCTGGGGTCCTGTCACCCAGAGTGTC CCGACACCCGCGCGGAGTGGCCTCCTGGGGCCCCGTCACCCACGCGGAGT GGCCTCCTGGGGTCCCGTCTCTGTGTGGAGTGGCCTCCTGGGGTCCTGTC ACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCCGGGGCCCCGTCA CCCACGTGGAGTGGCCTCCTGGGGTCCCATCATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0011 a0011	a0011c0055 a0011c0055	a0011c0055t0001 a0011c0055t0001	a0011c0055t0001g0158 a0011c0055t0001g0158	1	412	0.0024	-287	c.520 others(15): Show c.520-449_520-163del		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
DACH1_chr13_71432966_71872204	71734151	TCCCATAT others(280): Show TCCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATACGTATACCCCATATATATGTATATCCCATATACGTATACCCCATAT ATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCATATA CGTATACCCCATATATATGTATATCCCATATACGTATACCCCATATATAT GTGTATCCCATATACGTATACCCCATATATATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	102	0.0098	-287	c.849 others(19): Show c.849-52528_849-52242del		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DLGAP2_chr8_732628_1713476	1033924	CATGTGTC others(280): Show CATGTGTCACCGCGAGTGGACTCACACGCTCATCCCGACCCCGCGTGTCA CCGTGAGTGGACTCACACCCTCATCCCGACCCCGCGTGTCACCGCGAGTG GATTCACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAG CCTCATCCCGACCCCGCGTGTCACCGCGAGGGGACTCACACCCTCATCCC GACCCCACGTGTCACCGCGAGTGGACTCACACGCTCATCCCGACCCCGCG TGTCACAGCAAGCGGGTTCACAGCCTCATCCCGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	-287	c.73+ others(19): Show c.73+125959_73+126245del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034965	TGGATTCA others(280): Show TGGATTCACAGCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCAC AGCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACACGCTCATC CCGACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCCGACCCCG CGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACC GCGAGGGGACTCACACCCTCATCCCGACCCCACGTGTCACCGCGAGTGGA CTCACACGCTCATCCCGACCCCGCGTGTCACAGCAAGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	-287	c.73+ others(19): Show c.73+127002_73+127288del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1035231	GACCCCGC others(280): Show GACCCCGCGTGTCACAGCAAGCGGGTTCACAGCCTCATCCCGACCCTGCG TGTCACCGCGAGTGGATTCACACGCTCATCCCGACCCCGCGTGTCACCGC GAGTGGGCTCACACCCTCATCCCGACCCCGCATGTCACCGCGAGTGGGTT CACACCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACACCCTC ATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACC CCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-287	c.73+ others(19): Show c.73+127280_73+127566del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805942	TCCCCCCT others(280): Show TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	314	0.0032	-287	c.17 others(11): Show c.1777_*2063del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1656		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132233118	TCCCCTAC others(280): Show TCCCCTACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	183	0.0055	-287	c.107 others(21): Show c.1077+14505_1077+14791del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233790	CCCTAGTG others(280): Show CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	183	0.0055	-287	c.107 others(21): Show c.1077+13833_1077+14119del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
HDHD3_chr9_113368422_113381986	113376261	CATGTTGG others(280): Show CATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGCCTCCCAAAGTGT TAGGATTACAGGCGTGAGCCACTATACCCGGCCGGCTTTTTTTCTTTTTT TTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGTGTACAGTGGTGC GATCTCGGCTCACTGCAACTTCCGCCTCCCGGATTCAAGCGATTCTCCTT CCTTAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCACACCTGG CTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCAACT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00735.hp1 others(84): Show HG00280.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01192.hp2 HG01261.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02071.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG04228.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0003 a0002c0002t0003 a0002c0002t0014 others(1): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0014 a0002c0003t0003	a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0054 others(10): Show a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0054 a0001c0001t0003g0108 a0001c0001t0003g0109 a0002c0002t0003g0002 a0002c0002t0003g0006 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0107 a0002c0002t0014g0106 a0002c0003t0003g0104 a0002c0003t0003g0105	87	464	0.1875	-287	c.-29 others(17): Show c.-291+181_-291+467del		HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding	1/2						chr9	TogoVar
LAMP1_chr13_113292239_113328672	113314823	CATGTGCC others(280): Show CATGTGCCTGGGGCGTGGCCTCCTGGAGGCAGCCAGTGTGGAGATGCCAG TGTGCCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTG TGCCTGGGGCATGGCCTCCTGGAGGGAACCAGTGTGGAGATGCCAGTGTG CCTGGGGCGTGGCCTCCTGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCT GGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGGTGTGTCTGG GGTGTGGCCTCCTAGAGGGAACCAGTGTGGAGATGTCG	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	354	0.0028	-287	c.562 others(17): Show c.562+3957_562+4243del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8						chr13	TogoVar
MYOM2_chr8_2040046_2150456	2085544	CCCACTGT others(280): Show CCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGA TCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02055.hp1 HG02970.hp1 others(4): Show HG01928.hp1 HG02055.hp1 HG02970.hp1 HG03195.hp2 HG03471.hp1 NA18989.hp1 NA19030.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0006 a0010 a0090	a0002c0006 a0003c0001 a0005c0005 others(4): Show a0002c0006 a0003c0001 a0005c0005 a0005c0101 a0006c0194 a0010c0199 a0090c0187	a0002c0006t0001 a0003c0001t0001 a0005c0005t0001 others(4): Show a0002c0006t0001 a0003c0001t0001 a0005c0005t0001 a0005c0101t0007 a0006c0194t0001 a0010c0199t0001 a0090c0187t0001	a0002c0006t0001g0044 a0003c0001t0001g0238 a0005c0005t0001g0143 others(4): Show a0002c0006t0001g0044 a0003c0001t0001g0238 a0005c0005t0001g0143 a0005c0101t0007g0079 a0006c0194t0001g0400 a0010c0199t0001g0094 a0090c0187t0001g0022	7	403	0.0174	-287	c.164 others(17): Show c.1644+157_1644+443del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085991	CCCCCACA others(280): Show CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTC TGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCAT GATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTT GTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0036 a0036	a0036c0036 a0036c0036	a0036c0036t0001 a0036c0036t0001	a0036c0036t0001g0133 a0036c0036t0001g0342 a0036c0036t0001g0133 a0036c0036t0001g0342	2	403	0.0050	-287	c.164 others(17): Show c.1644+608_1644+894del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086010	TTTGTGGC others(280): Show TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTT GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC TGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCAC TGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCC ACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0157 a0003c0157	a0003c0157t0001 a0003c0157t0001	a0003c0157t0001g0219 a0003c0157t0001g0219	1	403	0.0025	-287	c.164 others(17): Show c.1644+621_1644+907del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36						chr8	TogoVar
NKD2_chr5_1003802_1043943	1023978	GCTGTGGG others(280): Show GCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	319	0.0031	-287	c.142 others(17): Show c.142-8166_142-7880del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023990	CCAGCCCT others(280): Show CCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGT TGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCAC CCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGG GCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAG CCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	319	0.0031	-287	c.142 others(17): Show c.142-8155_142-7869del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024694	ATTGTCCC others(280): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCC AGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	319	0.0031	-287	c.142 others(17): Show c.142-7436_142-7150del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024817	TTTGTCCC others(280): Show TTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCC ACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp1 HG03225.hp1 others(8): Show HG00438.hp2 HG01192.hp1 HG03225.hp1 NA18612.hp2 NA18939.hp2 NA18951.hp1 NA18972.hp2 NA19007.hp1 NA19012.hp2 NA19090.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0005g0003 a0001c0001t0005g0089 a0001c0001t0005g0090 others(6): Show a0001c0001t0005g0003 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0093 a0001c0001t0005g0095 a0001c0001t0006g0076 a0001c0001t0008g0082 a0001c0001t0008g0087 a0001c0001t0008g0092	11	319	0.0345	-287	c.142 others(17): Show c.142-7315_142-7029del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024899	TTTGTCCC others(280): Show TTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTG TCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCG	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	-287	c.142 others(17): Show c.142-7233_142-6947del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025505	TCTCAGCC others(280): Show TCTCAGCCCGTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCC GTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18951.hp2 HG03942.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0235 a0001c0001t0001g0200 a0001c0001t0001g0235	2	319	0.0063	-287	c.142 others(17): Show c.142-6645_142-6359del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025507	TCAGCCCG others(280): Show TCAGCCCGTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCGT TGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCAC CCTCTGTGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAG CCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19007.hp2 HG03239.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0023 a0001c0001t0001g0035	2	319	0.0063	-287	c.142 others(17): Show c.142-6638_142-6352del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)