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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNPH_chr20_1261294_1314327	1301895	ATTTCTAA others(462): Show ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATC AATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGC CAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTC CCATTAGCAATCACCGCCAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0081 a0001c0002t0007g0081	1	350	0.0029	-469	c.440 others(17): Show c.440+1458_440+1926del	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SULT2B1_chr19_48547172_48604423	48560703	ATAATCCC others(462): Show ATAATCCCAGCACTTTGGGAAGCCGAGACGTGTGGATCCCTTGAGGTCAG GAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGTAAAT ATACAGAAATTAGGACAGCCGTGGTGGCTCACATCTGTAATCCCAGCACT TTGGGAGGCCGAGGTGGGCCTATCATTTGAACCCGGGAGGCAGAGGCTGC AGTGAGCTAAGATCCTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAA ACTCCGTCTCAAAAATAAAAAAAATAAAAATTAGCCAGGTGTGGTGGTGG GCGCCCGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATTGTTTGA ACCCAGGAGACGGAGGTTGCTGTGGGGCTGAGATCGCACCACTGCACTCC AGCCTGGGAGACAGAGCAAGATCTTGTCTCAAAAAAATAAATTCGGGCCC GGTGTGGTGGCTCATGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG02723.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0011 a0001c0006 a0003c0011	a0001c0006t0001 a0003c0011t0001 a0001c0006t0001 a0003c0011t0001	a0001c0006t0001g0044 a0003c0011t0001g0043 a0001c0006t0001g0044 a0003c0011t0001g0043	2	376	0.0053	-469	c.71+ others(15): Show c.71+8392_71+8860del	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
TPSAB1_chr16_1235705_1247554	1246820	TGCTTGAG others(462): Show TGCTTGAGCCCAGGGGGCCAAGGCTACAGTGAGCCCTTGACTCACAGCCA AGGCTGCAGTGAGTAAGACCCTGTCAAAAAAAAAAAAAGGAAGGAAGGAA GGAAAGAAGGAAGGAGGGAGGGAAAGAAAGAAGGAAGGAAGGAAGGAGAG AAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGGAGAGGGGGTTATCCCGTAGCTCTGCCGTATAGCCAGTCAG CCCTGAAGTAGCTGTGGGCATCCTACTGACATGTAATTCTCAATCGCCAA ATCCAAGTCCATCAGCTCTCCCAAAAATGTCCTTGGATGGAAAATGTCCT GCCTAGGATCAGGAGGCACGCTGGGCTCTGGAACGGGTCCTCGGTCTTTC CTCAGCTCCTCTGACCCTGAGACCCTTGAAGATTTCGGGCCATCGTTTTG TGGAGCGCTCCTCAAGCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0007 a0014c0015t0007	a0014c0015t0007g0013 a0014c0015t0007g0013	1	290	0.0035	-469	c.45 others(11): Show c.4581_*5049del	TPSAB1	ENSG00000172236.19	transcript	ENST00000338844.8	protein_coding		4267		chr16	TogoVar
BRSK2_chr11_1384934_1467689	1432292	GTCTGGTC others(461): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19064.hp2 HG00423.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0272 a0001c0001t0003g0267 a0001c0001t0003g0272	2	360	0.0056	-468	c.92- others(15): Show c.92-3747_92-3280del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CLIC4_chr1_24740447_24849321	24799747	TGGGGGGG others(461): Show TGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCACCCCGTCCGGGGGGGGGGGTCAGCCCCCCCACCTGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0267 a0001c0001t0009g0267	1	344	0.0029	-468	c.182 others(17): Show c.182+1913_182+2380del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46801833	GTTGTCAG others(461): Show GTTGTCAGACCATAAAAGGTTACTGCAAAGTTGATTCTTAGGCCCAGCAA TGATGGGAGTAGGAAGGGGAGGAAGACTGATGGGTAAAGGGACTGGGGGC AGGGAAGAGCTGTCCGTCAGGATTAATTTCTCCTTCTTGGTCTCTGATTA CAGTCTGGAGGCCTTGGTAGCATCTACCTGTCATCCTCCTCAATTCTCAG AATGTGTCTTCTGGAGGTGGGGACATGTCCTATTCTTCCAGGGTCCCCCT CATTCCAGTCTAGGAACCAGGGAGGACTTTGCACATAGTAGGTGCTCAGC TATATTGTTGGCCTGAGGTTGGAACCCTTGAAAGAAGCCAACAAATTGGT GTGTGTGGGTGTGTGTGTGTGTGTAGAATGCCAGCTCCCAGATCAAGGAA ATGAGATACTCTGAGACTGCAGAGGCCTCTTTCCCAGCCATGCCCTTTGC TGTGAGAGTGCCCTTGACC	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	400	0.0025	-468	c.180 others(17): Show c.180+2577_180+3044del	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAG1_chr3_49465267_49540615	49480508	AGGTCTCG others(461): Show AGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGA GCTGGGATTACAGGCGTGAGCCACTGCGTCCGGCGCATATAACATTTCTA ATGGTTAATCTGTCCCTAATTCTTAGACAGTTTGGTTCTTTTTTTTTGTT TTTCTTCTTATTATTTGTTTTAGCTATTTCCTACAGGAAGGAGGTTATTT CTTACTTTGGTTGTAATAGATAATGTTGCAATTAACATCTCTGCATAAAG TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGG CTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTTG CCTGTAGCCACACCTGGATAATTTTTTGTATTTTTAGTAGAGAGGGGGTT TCACCCTGTTAGCCAGGAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01255.hp1 others(12): Show HG00140.hp1 HG00733.hp2 HG01255.hp1 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG02109.hp2 HG02257.hp2 HG02300.hp2 HG03239.hp1 HG03688.hp1 HG03834.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(12): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030	15	238	0.0630	-468	c.-11 others(21): Show c.-117+10109_-117+10576del	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPH7_chr9_137549444_137583925	137567204	TGTGAGGA others(461): Show TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	340	0.0029	-468	c.641 others(17): Show c.641-2518_641-2051del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERICH1_chr8_659200_736224	675980	TGAGGACA others(461): Show TGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGA GACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18747.hp1 NA18960.hp1 others(1): Show HG01358.hp1 NA18747.hp1 NA18960.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0080 a0001c0002t0001g0081 others(1): Show a0001c0002t0001g0013 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083	4	378	0.0106	-468	c.305 others(17): Show c.305-2401_305-1934del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109183	CTCTCCCT others(461): Show CTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCA CCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATG TCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCT GCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01243.hp1 others(1): Show HG00099.hp1 HG00639.hp2 HG01243.hp1 HG01358.hp2	a0003 a0005 a0003 a0005	a0003c0001 a0005c0004 a0003c0001 a0005c0004	a0003c0001t0001 a0005c0004t0001 a0003c0001t0001 a0005c0004t0001	a0003c0001t0001g0101 a0003c0001t0001g0122 a0003c0001t0001g0137 others(1): Show a0003c0001t0001g0101 a0003c0001t0001g0122 a0003c0001t0001g0137 a0005c0004t0001g0213	4	404	0.0099	-468	c.197 others(17): Show c.1976+667_1977-380del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11			chr14	TogoVar
L3MBTL4_chr18_5949717_6419911	6272556	CACAGAAG others(461): Show CACAGAAGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGA GCGGCGCCTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAAATTCAACTA GGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAA ACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAG TTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGA CAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGTGGTGCCTTCAGGAG CATGGGGAAAGGGGGAGTTGTGCAGATTCAACTAGGACTGAATATAAGGA ATACAGAAGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAG AGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACT AGGACTGAATATAAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	94	0.0106	-468	c.128 others(17): Show c.128-8986_128-8519del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272563	GAGTTCTG others(461): Show GAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGCGC CTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAAATTCAACTAGGACTGA ATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTG GTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCA AATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCC ACTGCATTAAACTGGTGGTTCTACAGAGTGGTGCCTTCAGGAGCATGGGG AAAGGGGGAGTTGTGCAGATTCAACTAGGACTGAATATAAGGAATACAGA AGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTG CCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTG AATATAAGGAATACAGAAC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	94	0.0106	-468	c.128 others(17): Show c.128-8993_128-8526del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272635	GGAGTTGT others(461): Show GGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTT CTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCA GGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATA AGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCT ACAGAGTGGTGCCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAGATTC AACTAGGACTGAATATAAGGAATACAGAAGAGTTCTGACAGCCCCACTGC ATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGG GAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGT TCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTC AGGAGCACGGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp1 HG02486.hp2 others(9): Show HG00639.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03834.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0004t0006 a0002c0002t0001 a0002c0006t0001	a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0028 others(9): Show a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0072 a0001c0001t0003g0011 a0001c0001t0003g0031 a0001c0003t0002g0039 a0001c0003t0002g0058 a0001c0004t0006g0074 a0002c0002t0001g0032 a0002c0006t0001g0036	12	94	0.1277	-468	c.128 others(17): Show c.128-9065_128-8598del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(461): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACGCACCGTGTATATATGCATATATACGTATCTGT ACACACGCACCGTGTATATATGCATATATACGTATCTGTACACACGCACC GTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATATATG CATATATACGTATCTGTACACACGCACCGTGTATATATGCATATATACGT ATCTGTACACACGCACCGTGTATATATGCATATATACGTATCTGTACACA CGCACCGTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTA TATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATAT ATACGTATCTGTACACACG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0015 a0001c0016t0015	a0001c0016t0015g0056 a0001c0016t0015g0056	1	200	0.0050	-468	c.857 others(17): Show c.857+2127_858-1958del	LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
LMLN_chr3_197955217_198048720	198004562	CATCTATA others(461): Show CATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGA CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAA GTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGT AAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTA GTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACG TAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGCCATCT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	258	0.0039	-468	c.131 others(19): Show c.1319+1732_1319+2199del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197876935	CTCACCGC others(461): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCC AGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCT CTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCA CCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCA GTGATTCTCTTTACCCAGT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	292	0.0034	-468	c.220 others(19): Show c.2208+1319_2208+1786del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLXDC2_chr10_19811432_20294856	19939794	TCTACTCC others(461): Show TCTACTCCAGACTTTTGTTGGATGACATGTGACAAATATGGCATAAATAA CAGAAAATAGGGATGTTTTTGAATTATGAGCAGAAGAGAATTCTAATTTT CCACCTATATAGCTTATAAAATCTGAAAGTTGTTTATATTTGGAGTTGAG ATGTCAAAGAAGGGAACGAATTCCATTGGTATGGTTGGCTTTTTATATAA TATGTCTATTTACATGGATGTTTAAGCTGGTTGCTTGAATAAATTCAAAT TTTTAGTAATTTCAAAGAGTTTAGGTGATTTAATATAGTCATGCGAAAGA ATCTCAAGACTAGAGGGTCTTATCATTGGGCAAATTCATGTGCTGGAAAT GGAAGGTAGAGAAATAACGTGATTTAATGTCATACTAATTCTACATTCTG GGAGAATTTACTTTATTTAAAATATAGTGAAGAACCTTGAACATAGTCAT GTGATTTGTACGAAGATGC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp1 HG02717.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0050 a0001c0001t0017 a0001c0001t0050	a0001c0001t0017g0144 a0001c0001t0050g0125 a0001c0001t0017g0144 a0001c0001t0050g0125	2	180	0.0111	-468	c.113 others(19): Show c.113-61977_113-61510del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RIMS1_chr6_71881550_72408145	71957458	TTTAGGTT others(461): Show TTTAGGTTTGCCTGCAGTAGAAGCATGAATGCTAATGAACAAGTTAATGA CTTTGACAAAAGTGGTGACAAATTTCAGTCTTAGAGTTTGAAACCCTCTG ATGTTTTTCTATGTACATGAATCTATAAATAAGTACATGCAAAGTAAATA CCAGGGTTAATTAGAACTCTGGAAGTGACACACTGAAGAGCAAGGTGAAT ATTAGTTATATGTGATAATATAATTAAAATTATTTTACAACCCTCAAGAA CACTAAATGACATGACAGTGTATAGACATATTAAAAGTATAATAAACTAA ATTTTTAGCCGATAAAATAAATATATTTTAAATGACATTTTAGGAGAAAA AGAGTCAGCCTTTATTATAGTATTAATTCAAGATTCCTATGCTTGATCTT GTTGTTTTTATCTGTATTTGGATATAATTAAATTTTAATTAAAAATTAAT TTAAGCAACTTCAAGGAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02572.hp1 others(10): Show HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0002t0006 a0001c0003t0007 a0001c0005t0001 a0001c0005t0010 a0001c0006t0002 a0001c0007t0013 a0001c0011t0005 a0001c0012t0019	a0001c0001t0002g0079 a0001c0001t0005g0043 a0001c0001t0009g0108 others(10): Show a0001c0001t0002g0079 a0001c0001t0005g0043 a0001c0001t0009g0108 a0001c0001t0013g0048 a0001c0002t0006g0069 a0001c0003t0007g0098 a0001c0005t0001g0053 a0001c0005t0010g0080 a0001c0005t0010g0081 a0001c0006t0002g0070 a0001c0007t0013g0041 a0001c0011t0005g0042 a0001c0012t0019g0047	13	140	0.0929	-468	c.165 others(19): Show c.165-11523_165-11056del	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF150_chr4_140854807_141138469	140927691	CAGGCTGG others(461): Show CAGGCTGGAGTGCAGTAGTGCAATCTCAGCTCACTTCAACCTCTACCTCC CGGGTTCAAGTGATTCTTGTACCTCAGCCTCCCAAGTAGCTGGGATTACA GGTGCCCACCACCAAGCCTGGCTAGTTTTTGTATTTTTAGTAGAGACGGG GTTTTGCCATGTTGGCCGGGCTGGTCCTGAACTCCTGACCTCAAGTGATC TGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGG GCCTGGCCTAACTCTATTTTCTTTATAAATTACCCAGTCTCAGGTATTTC TTTATAGCAGTGTGAGAACAGACTAATACATACTACTTGGAAGGAGTATA TTTCATTCACTCATCCATTCACTCCTTTATCTGTGCATTCATGCAACAAG TAGTATATACTAAGAACTGTGCTCAACAGACAGAATCAGCACAATGGTGA TTTGGCTCCTTCCGTCAGG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0076 a0001c0001t0095g0076	1	184	0.0054	-468	c.891 others(17): Show c.891-2086_891-1619del	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1061070	GCACCTGC others(461): Show GCACCTGCCGCATCCGCCATGCGGAACCCCTGCGTCTCACCCACCGCACC CGCCGTGCGGGACCCCTGCGTCTCACCCGCCGCACCCGCCGTGCGGGACC CCTGCGTCTCACCCACCGCACCCGCCGTGCGGGATCCCTGCGTCTCACCC ACCGCACCCGCCGTACCTGCCGCATCCGCCATGCGGAACCCCTGCGTCTC ACCCACCGCACCTGCCGTGCAGGATCCCTGAGTCTCACCCGCCGCACCCG CCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGCGGGATCCC TGAGTCTCACCCGCCGCACCCGCCGTACCTGCCGCATCCGCCATGCGGGA CCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGATCCCTGAGTCTCAC CCGCCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCC GCACCTGCCGCATCCGCCA	G G	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19091.hp1 NA19074.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0002t0008g0099 a0002c0002t0008g0100	2	118	0.0170	-468	c.274 others(18): Show c.2740-1087_2740-620del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168560505	TGAGGCTC others(461): Show TGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACC CTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	-468	c.637 others(19): Show c.637+11369_637+11836del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560806	GCCCTGAG others(461): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	180	0.0056	-468	c.637 others(19): Show c.637+11629_637+12096del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561742	GCCCTGAG others(461): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	180	0.0056	-468	c.637 others(19): Show c.637+12564_637+13031del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106586	CAGTGGAC others(461): Show CAGTGGACACGTGCTGTCACTTGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGACACACGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGATGCGTGCTGTCACTCGGGTGCAGGGTGTGGAGAGCTCCT TGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTGCTTGGTAAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0082 a0005c0006t0001g0082	1	190	0.0053	-468	c.325 others(17): Show c.325+8197_325+8664del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107314	GAGTGGAC others(461): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0151 a0004c0004t0001g0151	1	190	0.0053	-468	c.325 others(17): Show c.325+8947_325+9414del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPANXA2_chrX_141584708_141595762	141584765	TATACCCT others(461): Show TATACCCTCCTGGTGACAAGGCAAAGCCACACCCTTGAGCTTTGTTTGAT CATACAGGCAGTGTCCCAGCCAATGGCAGCCCTAGGGTGGCTTCACATCA CAAAGCCCCACTGCTGACCACTCCCTGGGCTTGCGGGCGAGGGGTGACAG GGGTGTAGAGCAAACCAAATGCTGCTGTTGTTTCAGCATCCCCTGAAGAT GCATCCCAAACCGATCTGCCGCCGCTCCTCATTTCTCCATGTTTAATGTT CACGGTTCACATGGAAGTCAGAGGATGATTCCTTCAAGCCCTTCCCCACA GCCATTCCTATTAAGTGATTCATTCTTTTGTCTTCCAGCCCTCACCATGA CTTAGTATTTTCGATGTCTCACCTCAAATCCCCCACGCTAGTGTGGCTAC ATTTATTTATTGGCGGAGATGTGAATTATCCCATTTCCCTCCTACAGTTC CTTCACATGCACCTCGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18998.hp2 NA18968.hp1 NA18998.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	2	185	0.0108	-468	c.-50 others(11): Show c.-5002_-4535del	SPANXA2	ENSG00000203926.5	transcript	ENST00000370518.4	protein_coding		4942		chrX	TogoVar
SPPL3_chr12_120757510_120909358	120892874	CGGGAGGC others(461): Show CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGTAGGCAGAGGTTGCA GTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGAC TCTGTCTCGGGAAAAAAAAAAAAAAAAATACAACCCAAAATTTAGTGGAC AATATACAAACCAAGAGAGACAAAAACTAAACGTACACACTAAGGACTCC TCTGAAATTCTCTTTACAACCCCTAACTGAAACCCTTAATAATTCTTTAA AAGGTAGAAATCTCTAAACTGAAACTACAGTAAAAAAAAATACTGGGTCA GGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGG GCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAA CCCTGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGCGGCGGGCG CCTGTAGTCCCAGCTACTT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18968.hp1 NA18973.hp2 others(1): Show NA18954.hp1 NA18968.hp1 NA18973.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0027 a0001c0001t0011g0052 a0001c0001t0011g0053 others(1): Show a0001c0001t0011g0027 a0001c0001t0011g0052 a0001c0001t0011g0053 a0001c0001t0011g0144	4	320	0.0125	-468	c.23+ others(17): Show c.23+10503_23+10970del	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
TIMM44_chr19_7921718_7948666	7944971	AATCCCAG others(461): Show AATCCCAGCACTTTGGGACACTGAGGCGGGAGGATCTCTCCAGCCCAAGA GTTTGAGACCAGCCTGGGCAACATAGTGAAGACCTCTTCTTTACAACAAA TACAAAACATTAGCTTGGCGTGGTAGCATGTGCTTGTAGTCCCAGCTACT CAGGAGGCTGAGATGGGAGGATCGTTGAGGCCCGGGAAGTTAAGGCTGTA GTGAGCCGTGATCGTGCCACTACACTACACTACACTACACTACACTACCT GGGCAACAGAGAGAGACCTTGTGTCAAAAAAAAAGAAGAAGAAAGAAAGA GAGAGAGAGAAAGGAAAGAAAGAAAACTACAGCATTGGACACTCAGAGGC AGTGTGTCATATAAGCATGTCAAAGACCCAAAGATAAAGTGGAGATAGAA GACTCCTTTAAGCCAGGATCCGTGGCTCAGTCCTATTATCCCAGCAACTC AGGAGCCTGAGGCAGGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02145.hp2 others(10): Show HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0004g0023 others(8): Show a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0004g0023 a0001c0001t0004g0100 a0001c0001t0004g0108 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0198	13	384	0.0339	-468	c.-17 others(11): Show c.-1788_-1321del	TIMM44	ENSG00000104980.8	transcript	ENST00000270538.8	protein_coding		1306		chr19	TogoVar
USP7_chr16_8887097_8968906	8953564	AGCAGAGG others(461): Show AGCAGAGGGAAGACACGTGCCCCATGCGGCGCCACCGGAAGCAGAGGGAA GACACGTGCCCCGTGCGGCGCCACCGGAAGCAGAGGGAAGACACGTGCCC CGTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCGTGCGGCGCC ACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAG AGGGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGAGGGAAGACAC GTGCCCCCTGCGGCGCCACTGGAGGCAGAGGGAAGACACGTGCCCCCTGC GGCGCCACTGGAGGCAGAGGGAAGACACGTGCCCCATGCGGCGCCACTGG AGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGAGGGA AGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGAGGGAAGACACGTGCC CCATGCGGCGCCACTGGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03834.hp1 HG01081.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0198 a0001c0001t0002g0119 a0001c0001t0002g0198	2	338	0.0059	-468	c.79+ others(15): Show c.79+9175_79+9642del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
CANT1_chr17_78986716_79014764	79004088	GGGAGTTA others(460): Show GGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGAGTTGG GGGGGAGTTAGGGAGGGGTGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAG TTAGGGAGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGAGAGTTAGGGA GAGGGGAGCTAGGGAGAGGACAGTTAGGGAGAGGAGTTAGGGAGGGGGGA GTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGGAGGTTAGGG AGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAGGG AGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGG GAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGA GTTAGGGAGGGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAG GGAGGGGAGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	394	0.0025	-467	c.-14 others(19): Show c.-147+5109_-147+5575del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CEP72_chr5_607340_658553	630554	GCCCAGTC others(460): Show GCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTG GTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTG TCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGG GATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGACCA GTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGG GTTCTATCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAG TGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTT AGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCT GGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCT GTCCAGTGCTGGATTTGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19007.hp1 HG00673.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0034 a0001c0001t0001g0037	2	91	0.0220	-467	c.513 others(17): Show c.513-3110_513-2644del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	630827	GCCCAGTC others(460): Show GCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTG GTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTG TCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGG GATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTTGACCCAG TCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGG TTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGC GCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTG ACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTG GTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTG TCCAGTGCCGGGATTTGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	91	0.0110	-467	c.513 others(17): Show c.513-2903_513-2437del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMD_chrX_31114222_33216549	32820967	GAAAAGCA others(460): Show GAAAAGCAGTTTGGGGAGAGATGCGGTATGTTGCTTGCTGGTTCTATTTG ACACCATCACTATATGGAACGGGCTGAAAATCGGCCAACTTGGGCTCACT TAAGGCTCCTATGAGCTATTCTTTGTTGCCAGCACATATTAATTCCCGCT CTTTCTCTTCCCCTCTCCCCGCTTACTGTTGTGAAGTAGCATTAAGCCTG TTCAGAGAATTTGGAATAAAAATATATGGGGGCCAATTAGGAGAGCAACA TGGCTGCTGAATTTAATAGGTACTCTTTGTGTCTACTCACTATTTGACTC TGAGCAAGAGCAATCTACAATTCAAGTTAAAATTCAAGCCGGGCGCAGTG GCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18989.hp1 NA18966.hp1 NA18989.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0032 a0004c0004t0001g0006 a0001c0001t0002g0032 a0004c0004t0001g0006	2	126	0.0159	-467	c.357 others(17): Show c.357+1861_357+2327del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	5/78			chrX	TogoVar
ERICH1_chr8_659200_736224	675211	GTGAGGAC others(460): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	378	0.0027	-467	c.305 others(17): Show c.305-1631_305-1165del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675890	CCCCCTCG others(460): Show CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC TCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGG CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGACGCGGCGG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	378	0.0027	-467	c.305 others(17): Show c.305-2310_305-1844del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675953	TGAGGACA others(460): Show TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGA GGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCC CCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02523.hp1 HG03041.hp2 others(2): Show HG01515.hp1 HG02523.hp1 HG03041.hp2 NA18951.hp1 NA19003.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0002 a0003c0004t0002 a0001c0001t0001 a0001c0002t0002 a0003c0004t0002	a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0167 others(2): Show a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0002t0002g0335 a0003c0004t0002g0322	5	378	0.0132	-467	c.305 others(17): Show c.305-2373_305-1907del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675964	GCGCGGCG others(460): Show GCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18944.hp1 NA18945.hp2 HG03017.hp2 NA18944.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0198 a0001c0001t0001g0007 a0001c0001t0001g0198	3	378	0.0079	-467	c.305 others(17): Show c.305-2384_305-1918del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXD3_chr9_137301896_137428162	137328884	ACACGGGG others(460): Show ACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGACT ACACGGGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGAC TACACGGGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGG CTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGACTACACGGG GCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCTACACGGG AGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGAGCTACAC GGGACTACACGGGGCTACACGGGGCTACACGGGACGACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGAGCTAC ACGGGGCTACAGGGGGCTACACGGGGCTACACGGGACTACACGGGAGCTA CACGGGGCTACACGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02615.hp2 HG02896.hp2 others(6): Show HG01993.hp1 HG02615.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp2 HG03669.hp1 NA18747.hp1 NA18747.hp2 NA18951.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0004c0007 others(2): Show a0001c0001 a0002c0002 a0004c0007 a0004c0009 a0011c0011	a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 a0004c0009t0001 a0011c0011t0001	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0078 a0001c0001t0001g0082 a0002c0002t0001g0045 a0004c0007t0001g0002 a0004c0007t0001g0023 a0004c0009t0001g0065 a0011c0011t0001g0055	9	82	0.1098	-467	c.199 others(19): Show c.1999-5208_1999-4742del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50343322	ATCATTCT others(460): Show ATCATTCTCCCCCTTAGTCACTGTGCTCTAGCCACAAAAGTCAGCAATTC TTTGAACAAGGCAAATGTGTTCGCACTTTAGGGTCTAGCACAAGTTGGTT CTGCTGTCTAGAACTCTTCACTTAGATACTGTATGGCTTGCTCCTGCACT CTAGGACACCCAGGGAGCAGCTTTCCCAGACCACCTAAGATAGCTACCAC ATCCCACCAATCTATCCCCTCACCTCTTTTTTTTTTAGATGGAGTCTCGC TCTGTCACCAGGCTGGAGGTGCAGTGGTGCCATCTCGGCTCACTGCAGCC TCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTGGCT GGGACTACAGGCACACACCACCACGCCTAGCTAGTTTTTGTATTTTTAGT AGAGATGAGGTTTCACCATGTCGGCCAGGATGGTCTTGATCTCCTGACCT CATGATCTGCCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	366	0.0027	-467	c.-1+ others(17): Show c.-1+11196_-1+11662del	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
IL3RA_chrX_1331785_1387689	1368765	ACTGCCCA others(460): Show ACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAA TCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGC AGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACA CACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCA AGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATC TCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCT AAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAG ACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGA CCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp1 others(34): Show HG00099.hp1 HG00140.hp1 HG00558.hp1 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA19005.hp2 NA19080.hp1 NA19240.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0006c0011 others(1): Show a0001c0001 a0001c0003 a0006c0011 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0003t0004 a0006c0011t0004 a0009c0008t0004	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0103 others(34): Show a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0002g0029 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0003g0009 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0094 a0001c0001t0003g0105 a0001c0001t0003g0113 a0001c0001t0004g0040 a0001c0001t0004g0052 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0004g0076 a0001c0001t0004g0092 a0001c0001t0007g0097 a0001c0001t0010g0039 a0001c0001t0013g0091 a0001c0001t0014g0048 a0001c0001t0015g0096 a0001c0003t0004g0066 a0006c0011t0004g0059 a0009c0008t0004g0068	37	115	0.3217	-467	c.874 others(17): Show c.874+3631_874+4097del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1374128	ACTGCCCA others(460): Show ACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAA TCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGC AGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACA CACACAGAGGGATGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCA AGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATC TCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCT AAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAG ACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGA CCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	115	0.0087	-467	c.875 others(17): Show c.875-4369_875-3903del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
LMLN_chr3_197955217_198048720	197977366	TACACACG others(460): Show TACACACGTTAAATCTGGGTACATATAAAATCATCAAACAATCTGGAAGT ACACACATGTTAAACCTGGATACATAAAAAATTATCAAACAATCTGGAAG TACACACACGTTAAATCTGGATACATATAAAAATGATCAAACAATCTGGA AGTATACACACGTTAAATCTGGATACATATAAAAATCATCAAACCATCTG GAAGTATACACACGTTAAATCTGGATACATATAAAAATTATCAAACAATC TGGAAGCACACACTTGTTAAATCTGGATACATATAAAAATCATCAAACAA TCTGGAAGTATACACACGTTAAATCTGGATACATATAAAAAATCACCAAA CAATCTGGAAGTATACACACGTTAATTCTGGATACATATAAAAATCATCA AACAGTCTGGAAGTATACACACGTTAAATCTGGATACATACAAAAATCAT CAAACAGTCTGGAAGTAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	258	0.0039	-467	c.525 others(16): Show c.525+669_525+1135del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198003614	ATAGTAAG others(460): Show ATAGTAAGTTTGACATTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCA TACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATAT CATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACAT ATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATAC ATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGAT ACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAG ATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATAC AGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTAT ACAGATACATATCATACG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0057 a0002c0002t0049g0057	1	258	0.0039	-467	c.131 others(17): Show c.1319+501_1319+967del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NPAS1_chr19_47014837_47050775	47025008	ACCATGTT others(460): Show ACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCCTTATCCTCCCAA AGTGCTGGGATTGCAGGCGTGAGGCGCCGTGCCCGGCTTTTACAGCCTTC TTTCTTCCCATAGCACTTATTGTCATCTGACACTCTCTGTATTTATCTTG TTATTTTGTGTCATTCACCAACAGCCTCTTGGTTGCTGAGCCTGGAGTAG CATCTGGGACACAATGAAGGCTTACTAAATTGTTGAGTGACTGTGGCAGT TGAGGGAAGGAGGGGTGACATCTTTATTTATTTATTTATAGACGGAGTTT TGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGC AACCTCCTTCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCTAAT AGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTATTTTT AGTAGAGATGGGGTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(124): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19085.hp2 NA19090.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0014 a0001c0017 a0002c0006 a0003c0015 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0014t0001 a0001c0017t0001 a0002c0006t0001 a0003c0015t0001 a0006c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 others(122): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0265 a0001c0001t0001g0293 a0001c0001t0001g0359 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0389 a0001c0001t0001g0401 a0001c0001t0001g0413 a0001c0001t0002g0004 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0003g0150 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0034 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0121 a0001c0002t0001g0153 a0001c0002t0001g0165 a0001c0002t0001g0175 a0001c0002t0001g0182 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0209 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0220 a0001c0002t0001g0280 a0001c0002t0001g0285 a0001c0002t0001g0298 a0001c0002t0001g0336 a0001c0002t0001g0358 a0001c0002t0001g0374 a0001c0002t0001g0375 a0001c0003t0001g0022 a0001c0003t0001g0024 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0073 a0001c0003t0001g0263 a0001c0003t0001g0281 a0001c0003t0001g0399 a0001c0003t0001g0403 a0001c0007t0001g0409 a0001c0014t0001g0368 a0001c0017t0001g0086 a0002c0006t0001g0119 a0002c0006t0001g0164 a0003c0015t0001g0414 a0006c0012t0001g0072	127	418	0.3038	-467	c.358 others(17): Show c.358+3171_358+3637del	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
QRICH1_chr3_49024707_49099071	49041670	ACTCAGGC others(460): Show ACTCAGGCTGGAGTGGAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCC TCCCTGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACT ACAGGCACATGCCACCACGTCCAGCTAATTTTTTGTATTTAGTAGAGACG GGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGATATCATGATC TACCTGCCTCAGCCTCCCAAAGCTCTGGGATTATCTGGGATTACAGGTGT GAACCACAGCTCCCAGCCAATTTTTTGTATTTTTAGTAGAGACAACGTTT TATGTGTTGGCCAGGCTGGTGTCGGACTCCTGGTCTCAAGTGATCCACCT GCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCA GACTGTGTTTTTTTTTTTTTTTGGGCGGGGGGGCGGGGGTGGCACGGGGC AGACTCTTGCTCTTGTCG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	226	0.0044	-467	c.178 others(19): Show c.1786+2253_1786+2719del	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	6/9			chr3	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(460): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0137 a0001c0001t0037g0137	1	172	0.0058	-467	c.573 others(19): Show c.573+69221_573+69687del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883350	AAAAGCCG others(460): Show AAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGTGGGGGAAAAAGCCGCG GCGTTGGGGGCAAAAAGCCGCGGTGGCGGGGGGGCAAAAAGCTGCGGTGG CGGGGGGGCAAAAAGCCGTGACCGGCAAAAAGCCGTGGTGGCGGGGAACA AAAAGCCGCGGCGGCGGGGGCGGGCAAAAAGCCGGGGCGGGCAAAACCCC GAGGCGCCGTGGGGGCAAAAAGCCGGGGCGGGCAAAAAGCCGGGGCGGGC AAAAACCCGCGGCGGCGGTGGGGCAAAAAGCTGGAGCGGGTAAAAAGCCG CGGCAACAAAAAGCCTCGGCGGCGGGGGCGCAAAAAGCCGCGGTGGGCAT AAACCCGAGGCGGCGGGGGGGGGGGGGTGCAAAAAACCGCCGTGGGGAAA AAGCCGCGGCGGTGGGGGGCAAAATCCCGCGGCGGGCAAAAAGCCGCGGC GGCGAGGGGGGTCACAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	56	0.0179	-467	c.83 others(11): Show c.8343_*8809del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3937		chr1	TogoVar
ATP11A_chr13_112685038_112892168	112750085	GTCCCCTT others(459): Show GTCCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCA TCCTCCCACGTGGGGACACGCCTGCTGAAGGATGCGGGGTTGAGTCCCCT TCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCC ACGTGGGGACACGCCTGCTGAAGGATGCGGGGTTGAGTCCCCTTCAGCCT CTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGG GACACGCCTGCTGAAGGATGCGGGTTTGAATCCCCTTCAGCCTCTCGTGA ATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGACACGC CTGCTGAAGGACGCGGGGTTGAATCCCTCTTCAGCCTCTCGTGAATTTCT GTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGACACGCCTGCTG AAGGATGCGGGTTTGAA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0001 a0005c0032t0001	a0005c0032t0001g0234 a0005c0032t0001g0234	1	254	0.0039	-466	c.40- others(17): Show c.40-34968_40-34503del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112750167	TGCGGGGT others(459): Show TGCGGGGTTGAGTCCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAG GAGAGTCTCCATCCTCCCACGTGGGGACACGCCTGCTGAAGGATGCGGGG TTGAGTCCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTC TCCATCCTCCCACGTGGGGACACGCCTGCTGAAGGATGCGGGTTTGAATC CCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCC TCCCACGTGGGGACACGCCTGCTGAAGGACGCGGGGTTGAATCCCTCTTC AGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCAC GTGGGGACACGCCTGCTGAAGGATGCGGGTTTGAATCCCCTTCAGCCTCT CGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGA CACGCCTGCTGAAGGAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0216 a0001c0040t0001g0216	1	254	0.0039	-466	c.40- others(17): Show c.40-34957_40-34492del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CCDC73_chr11_32597721_32799662	32638777	GATTGTTC others(459): Show GATTGTTCTATTGTTTTTTAAATGAAATGCCAACAGGATGGAATGGGAAG GGTGGAGATGGGAACCTTATGCTTAAACCTCATTTCATCAGCCAGGCACA GTGGCTCACGCCTGTAATCCTAGCACCTTGATAGGCCAAGGCAGGTGGGT TGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAAACCCC ATCTCTACTAAAGTACAAAAAGTTAGCCGGGCATGGTGGCCTGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGA GGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGC AACAGAGCGAGACTCCATCTTCCCCGACACCCCCCCCAAAAAATCCTATT CCATCTTTTGAAGCCAAATTCTAGGGTCATCTTTTCTCTAAAACTTTCTC CAGCCCAGCTAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	312	0.0032	-466	c.105 others(19): Show c.1050+2729_1051-2948del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	13/17			chr11	TogoVar

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Search Results (Total: 10000 hits)