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
SMYD3_chr1_245744347_246512279	245976669	CAGGGAAA others(185): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0128 a0002c0008t0001g0128	1	150	0.0067	-192	c.532 others(19): Show c.532-46924_532-46733del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45414955	CACACACA others(185): Show CACACACATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGT ATATAGTATGTATATACACACATATAGTGTGTATATAGTATGTATATACA CACATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATAT AGTATGTATATACACACATATAGTGTGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	358	0.0028	-192	c.233 others(19): Show c.2334-1854_2334-1663del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883859	GGGAGGGG others(185): Show GGGAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAAGCCACGGCGGCGGG GGGTAAAAAGCCGCGGCGGTCAAAAAGCCGAGGCGGGGTGGGGGGGGGGG AGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAAGCCACGGCGGCGGGGGG TAAAAAGCCGCGGCGGTCAAAAAGCCGAGGCGGGGTGGGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0014 a0007c0006t0014	a0007c0006t0014g0007 a0007c0006t0014g0007	1	56	0.0179	-192	c.81 others(11): Show c.8109_*8300del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3428		chr1	TogoVar
THADA_chr2_43225851_43601038	43431649	TTTTTTTT others(185): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCGCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGATAATTTTTTGTAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0039 a0005c0004t0001g0039	1	206	0.0049	-192	c.383 others(19): Show c.3837-1539_3837-1348del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	26/37			chr2	TogoVar
THEG_chr19_356747_381026	360078	GACTCCGA others(185): Show GACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTCTCAGCAGGAGCGT CGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTGATGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02027.hp1 NA18944.hp2 others(11): Show HG00673.hp1 HG02027.hp1 NA18944.hp2 NA18953.hp1 NA18962.hp2 NA18983.hp2 NA19005.hp1 NA19010.hp2 NA19063.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0009t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0019 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0261 a0001c0001t0002g0039 a0001c0009t0019g0054 others(11): Show a0001c0001t0001g0261 a0001c0001t0002g0039 a0001c0009t0019g0054 a0002c0002t0001g0197 a0002c0002t0001g0246 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0285 a0002c0002t0001g0293 a0002c0002t0001g0332 a0002c0002t0001g0338 a0002c0002t0001g0341 a0002c0002t0002g0005 a0002c0002t0002g0034	14	370	0.0378	-192	c.19 others(11): Show c.1930_*2121del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1668		chr19	TogoVar
THEG_chr19_356747_381026	360819	GGCTGGTT others(185): Show GGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCC TCAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGAC GGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTC GTTCCGACTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01123.hp1 HG03540.hp2 others(1): Show HG00099.hp1 HG01123.hp1 HG03540.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0007 a0004c0016t0005 a0004c0016t0007 a0001c0001t0007 a0004c0016t0005 a0004c0016t0007	a0001c0001t0007g0154 a0001c0001t0007g0193 a0004c0016t0005g0105 others(1): Show a0001c0001t0007g0154 a0001c0001t0007g0193 a0004c0016t0005g0105 a0004c0016t0007g0310	4	370	0.0108	-192	c.11 others(11): Show c.1189_*1380del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		927		chr19	TogoVar
THEG_chr19_356747_381026	361528	GTTTGACT others(185): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCAGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0232 a0001c0001t0010g0232	1	370	0.0027	-192	c.48 others(9): Show c.480_*671del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		218		chr19	TogoVar
THEG_chr19_356747_381026	361592	GTTTGACT others(185): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGGCCCTCAGGAGGAGCGTCAGCTGCTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGGCCCTCAGCAGGAGCGTCGGCTGC	G G	splice_region_variant splice_region_variant	LOW	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0032 a0001c0001t0031g0032	1	370	0.0027	-192	c.41 others(9): Show c.416_*607del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8			chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129088240	GGGGTGTC others(185): Show GGGGTGTCCTCTATGACTGGGTGTCCTCCCTGACCGGGGTGTCCTCTATG ACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTA TGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCT CTATGACCGGGTGTCCTCCCTGACTGGGGTGTCCTCTATGACC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG03041.hp1 others(3): Show HG01433.hp2 HG02451.hp1 HG03041.hp1 HG03195.hp1 HG03669.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0015 a0001c0001 a0001c0002 a0006c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0006c0015t0024	a0001c0001t0001g0008 a0001c0001t0004g0070 a0001c0001t0007g0014 others(3): Show a0001c0001t0001g0008 a0001c0001t0004g0070 a0001c0001t0007g0014 a0001c0001t0010g0048 a0001c0002t0001g0030 a0006c0015t0024g0087	6	94	0.0638	-192	c.144 others(19): Show c.1444-3730_1444-3539del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113790408	GGACATCC others(185): Show GGACATCCTAGCACTGAACTGACTGGACACATGGACATCCTAGCTGTGGA CTGACCGGACACGTAGACATCCTAGCACTGAACTGACTGGACACATGGAC ATCCTAGCTGTGGACTGACCGGACACGTGGACATCCTAGCACTGAACTGA CTGGACACATGGACATCCTAGCTCTGGACTGACCGGACACGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG02976.hp2 others(2): Show HG02145.hp1 HG02647.hp1 HG02976.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 others(1): Show a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 a0001c0001t0118	a0001c0001t0027g0026 a0001c0001t0027g0028 a0001c0001t0037g0236 others(2): Show a0001c0001t0027g0026 a0001c0001t0027g0028 a0001c0001t0037g0236 a0001c0001t0038g0237 a0001c0001t0118g0027	5	260	0.0192	-192	c.253 others(17): Show c.253-4705_253-4514del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP73_chr1_3647516_3741201	3674989	GGTCTCCT others(185): Show GGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTG TCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTC TCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTC CTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02572.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 a0001c0001t0030 a0001c0001t0032 a0001c0001t0041 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0056 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0003t0006 a0001c0003t0035 a0001c0003t0059 a0001c0012t0037 a0001c0015t0006	a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0171 others(89): Show a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0002g0067 a0001c0001t0002g0094 a0001c0001t0002g0124 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0185 a0001c0001t0002g0202 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0260 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0312 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0329 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0003g0055 a0001c0001t0003g0228 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0318 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0004g0066 a0001c0001t0004g0098 a0001c0001t0004g0110 a0001c0001t0004g0174 a0001c0001t0004g0220 a0001c0001t0004g0233 a0001c0001t0004g0250 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0005g0168 a0001c0001t0005g0204 a0001c0001t0007g0194 a0001c0001t0007g0343 a0001c0001t0013g0222 a0001c0001t0021g0249 a0001c0001t0021g0252 a0001c0001t0030g0142 a0001c0001t0032g0253 a0001c0001t0041g0011 a0001c0001t0046g0113 a0001c0001t0050g0278 a0001c0001t0051g0071 a0001c0001t0054g0269 a0001c0001t0056g0258 a0001c0002t0001g0016 a0001c0002t0001g0077 a0001c0002t0001g0102 a0001c0002t0001g0118 a0001c0002t0001g0163 a0001c0002t0001g0221 a0001c0002t0001g0242 a0001c0002t0001g0254 a0001c0002t0001g0264 a0001c0002t0001g0275 a0001c0002t0003g0259 a0001c0002t0005g0096 a0001c0002t0005g0166 a0001c0002t0005g0167 a0001c0002t0005g0176 a0001c0002t0005g0226 a0001c0002t0005g0231 a0001c0002t0005g0232 a0001c0002t0005g0244 a0001c0002t0005g0246 a0001c0002t0005g0347 a0001c0002t0020g0123 a0001c0002t0020g0290 a0001c0002t0025g0358 a0001c0002t0027g0139 a0001c0002t0029g0169 a0001c0003t0006g0330 a0001c0003t0035g0225 a0001c0003t0059g0121 a0001c0012t0037g0093 a0001c0015t0006g0238	92	358	0.2570	-192	c.-33 others(17): Show c.-33-7179_-33-6988del	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPPP_chr5_654862_698352	668266	CGGAGAGG others(185): Show CGGAGAGGGGTCCGCGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACA GAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGCGGACAAGCACACTGG AGAGGGGTCCGCGTGGGCCTCGTCAGGGAAGTACCGACAAGCACACAGAG AGGGGGCCGCGTGGGCGCCGTCAGGGAAGTGCGGACAAGCACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp1 others(28): Show HG00140.hp2 HG00639.hp1 HG00735.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG01981.hp2 HG02257.hp1 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG03225.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03834.hp1 HG04228.hp1 NA18970.hp2 NA18982.hp2 NA19005.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0002c0007	a0001c0001t0006 a0001c0001t0083 a0001c0001t0084 others(8): Show a0001c0001t0006 a0001c0001t0083 a0001c0001t0084 a0001c0003t0010 a0001c0003t0011 a0001c0003t0019 a0001c0003t0027 a0001c0003t0039 a0001c0003t0041 a0001c0014t0030 a0002c0007t0006	a0001c0001t0006g0047 a0001c0001t0006g0054 a0001c0001t0006g0061 others(23): Show a0001c0001t0006g0047 a0001c0001t0006g0054 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0083g0067 a0001c0001t0084g0335 a0001c0003t0010g0008 a0001c0003t0010g0009 a0001c0003t0010g0039 a0001c0003t0010g0042 a0001c0003t0010g0043 a0001c0003t0010g0044 a0001c0003t0011g0034 a0001c0003t0011g0036 a0001c0003t0011g0037 a0001c0003t0011g0038 a0001c0003t0011g0040 a0001c0003t0011g0041 a0001c0003t0011g0046 a0001c0003t0019g0003 a0001c0003t0027g0007 a0001c0003t0039g0190 a0001c0003t0041g0288 a0001c0014t0030g0096 a0002c0007t0006g0163	31	409	0.0758	-192	c.312 others(17): Show c.312-2335_312-2144del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TRIML1_chr4_188134441_188152743	188151349	GGGGCTGA others(185): Show GGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGG GGGTGAGAGGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGG GTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0166 a0001c0003t0002g0166	1	228	0.0044	-192	c.39 others(11): Show c.3978_*4169del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3607		chr4	TogoVar
TYMS_chr18_652653_678578	666915	TGATGGAG others(185): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGG TGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG00642.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	2	482	0.0042	-192	c.455 others(17): Show c.455-2151_455-1960del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UVSSA_chr4_1342208_1393049	1364064	CGTGGGGG others(185): Show CGTGGGGGCCACCTCCCGGCAGGGTGCTGGTGCCCGGGCCCCGTGGCCTT GTGTGGCCTGGCTCCGTGGGGGCCACCTCCCGGCAGGGTGCTGGTGCCCG GGCCCCGTGGCCTTGTGTGGCCTGGCTCCGTGGGGGCCACCTCCCGGCAG GGTGCTGGTGCCCGGGCCCCGTGGCCTTGTGTGGCCTGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0288 a0004c0006t0012g0288	1	400	0.0025	-192	c.117 others(19): Show c.1177-2209_1177-2018del	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VAV2_chr9_133756894_133997324	133827164	GCCACCTA others(185): Show GCCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCATGGGCATCGC CAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCA CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0027 a0001c0009t0002g0034 a0001c0009t0002g0027 a0001c0009t0002g0034	2	200	0.0100	-192	c.449 others(17): Show c.449+6916_449+7107del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827360	CCTACCGC others(185): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGC TACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTA CCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACT GCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0029 a0001c0027t0029	a0001c0027t0029g0150 a0001c0027t0029g0150	1	200	0.0050	-192	c.449 others(17): Show c.449+6720_449+6911del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828257	GCACGGGC others(185): Show GCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGT GGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGG GCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0197 a0001c0004t0002g0197	1	200	0.0050	-192	c.449 others(17): Show c.449+5823_449+6014del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
XAF1_chr17_6751046_6780647	6758364	AAGTGTTC others(185): Show AAGTGTTCAGTCCTCTCTGCAGGAGAGATGGGGTCTGAGAGTCAAGGCGA GTGTTCAGTCCTCTCTGCAGGTGAGATGGGGTCTGAGAGTCAAGGCAAGT GTTCAGTCCTCTCTGCAGGTGAGATGGGGTCTGGGAGTCAAGGCGAGTGT TCAGTCCTCTCTGCAGGACAGATGGGGTCTGAGAGTCAAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0077 a0010c0008t0005g0077	1	448	0.0022	-192	c.168 others(15): Show c.168+163_168+354del	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
XG_chrX_2747040_2821500	2773486	GGAAGGAA others(185): Show GGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0211 a0003c0004t0002g0211	1	322	0.0031	-192	c.104 others(16): Show c.104-1150_104-959del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773582	AGAAGGAA others(185): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA20905.hp2 HG03239.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0016 a0001c0001t0024	a0001c0001t0016g0277 a0001c0001t0024g0184 a0001c0001t0016g0277 a0001c0001t0024g0184	2	322	0.0062	-192	c.104 others(16): Show c.104-1070_104-879del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ADARB2_chr10_1172313_1742525	1237020	CCCGGTGT others(184): Show CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC GGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGG TTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGT GTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp2 NA19011.hp1 HG02630.hp1 HG03540.hp2 NA19011.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0015 a0001c0001 a0001c0007 a0005c0015	a0001c0001t0049 a0001c0007t0033 a0005c0015t0014 a0001c0001t0049 a0001c0007t0033 a0005c0015t0014	a0001c0001t0049g0040 a0001c0007t0033g0041 a0005c0015t0014g0008 a0001c0001t0049g0040 a0001c0007t0033g0041 a0005c0015t0014g0008	3	106	0.0283	-191	c.136 others(19): Show c.1362-3366_1362-3176del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238567	CTCCCTCC others(184): Show CTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0088 a0002c0002t0004g0088	1	106	0.0094	-191	c.136 others(19): Show c.1361+3373_1361+3563del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238827	CCTGCCTC others(184): Show CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCT CCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	106	0.0094	-191	c.136 others(19): Show c.1361+3113_1361+3303del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANAPC10_chr4_144989576_145103196	145038821	CAAAAAAA others(184): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTA TAAGAAGCAGGCAACAAATTCAACAGATACTTCTGATGACGAGACATCAC TTTCTACAGAGAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTG GCATTGTATTTCTCAACATTTACAATAAAAACAATGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00673.hp2 others(47): Show HG00323.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01516.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp2 HG03704.hp2 HG04204.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA19001.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp1 NA19070.hp2 NA19074.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(47): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0005g0040 a0001c0001t0005g0043	50	336	0.1488	-191	c.327 others(19): Show c.327+25560_327+25750del	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
B3GNTL1_chr17_82937149_83056770	82972565	GGTACTGA others(184): Show GGTACTGACCACACCACACCACGGGCCAGAAGGACCTGGTGCCGACACAC CACACCATGGGCCAGAAGGACCTGGTGCCCACCACACCACACTCATAGGG GCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGAC CTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19240.hp2 HG02572.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0016 a0001c0014t0002 a0001c0002t0016 a0001c0014t0002	a0001c0002t0016g0134 a0001c0014t0002g0011 a0001c0002t0016g0134 a0001c0014t0002g0011	2	266	0.0075	-191	c.460 others(17): Show c.460-7010_460-6820del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	381336	CCCCCGGC others(184): Show CCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGCCCCGGGTTCC TGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCCCC CGGCCCCGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGAC CACCTCTCCGCCCCCGGCCCCGGGTTCCTGACCACCTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0001 a0022c0029t0001	a0022c0029t0001g0135 a0022c0029t0001g0135	1	184	0.0054	-191	c.299 others(17): Show c.2997-328_2997-138del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CHCHD6_chr3_126699240_126965420	126862927	ATCACCAC others(184): Show ATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCAT CACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACCT CCTCCTCCTCCACCATCACCACCTCCTCCTCCTCCTCCACCATCATCACC TCCTCCTCCTCCTCCACCATCACCACCTCCTCCTCCTCCTCC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	216	0.0046	-191	c.495 others(19): Show c.495+10198_495+10388del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHRM2_chr7_136863652_137025213	136973171	TGATGGTG others(184): Show TGATGGTGACGGTGTTAGGGATGGTGGCGACGGTGTTAGGGATGGTGGCA GGTGATGATGGTGACGGTGTTAGGGATGGTGGCAGGTGATGATGGTGACG GTGTTAGGGATGGTGGCAGGTGATGATGGTGACGGTGTTAGGGATGGTGG CAGGTGATGGTGACGGTGTTAGGGATGGTGGCAGGTGATGAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	320	0.0031	-191	c.-12 others(21): Show c.-124-19014_-124-18824del	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL18A1_chr21_45400165_45518720	45431345	CCGGCGGC others(184): Show CCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGG CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0002 a0030 a0002 a0030	a0002c0012 a0030c0056 a0002c0012 a0030c0056	a0002c0012t0004 a0030c0056t0001 a0002c0012t0004 a0030c0056t0001	a0002c0012t0004g0199 a0030c0056t0001g0044 a0002c0012t0004g0199 a0030c0056t0001g0044	2	292	0.0069	-191	c.106 others(19): Show c.106+25905_106+26095del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178294340	CTCCCCAA others(184): Show CTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAACTCCCT CCCCAAATCACTACCGAGCTCCCTCCCAAATCACTACCCAGCTCCCTCCC CAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCA AATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0128 a0004c0006t0003g0128	1	236	0.0042	-191	c.407 others(17): Show c.407-4162_407-3972del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
CROCC2_chr2_240901336_240998311	240985491	ACACACAC others(184): Show ACACACACACCCAGGCACTCACTCTACACACACACCCAGGCACTCACTCC ACACACACACACCCAGGCACTCACTGCACACACCCAGCACACACACCCAG GCACTCACTCCACACACACCCAGACACTCACTCCACACACACCCAGGCAC TCACTCCACACACACCCAGCACACACACCCAGGCACTCACTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01257.hp2 others(6): Show HG00140.hp2 HG01074.hp1 HG01257.hp2 HG01978.hp2 HG02630.hp1 HG02683.hp1 NA18522.hp1 NA18965.hp2 NA18968.hp1	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0010 a0030 a0048	a0002c0002 a0003c0003 a0006c0007 others(3): Show a0002c0002 a0003c0003 a0006c0007 a0010c0009 a0030c0053 a0048c0066	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(5): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0010c0009t0002 a0030c0053t0001 a0048c0066t0002	a0002c0002t0001g0060 a0002c0002t0002g0259 a0003c0003t0001g0020 others(6): Show a0002c0002t0001g0060 a0002c0002t0002g0259 a0003c0003t0001g0020 a0003c0003t0001g0049 a0003c0003t0002g0255 a0006c0007t0001g0199 a0010c0009t0002g0005 a0030c0053t0001g0071 a0048c0066t0002g0269	9	350	0.0257	-191	c.455 others(19): Show c.4551+2486_4551+2676del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DACH1_chr13_71432966_71872204	71734129	ATATACCC others(184): Show ATATACCCCATATATATGTATATCCCATATACGTATACCCCATATATATG TATATCCCATATACGTATACCCATATATATGTATATCCCATATACGTATA CCCCATATATATGTATATCCCATATACGTATACCCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02818.hp2 HG02886.hp2 others(2): Show HG00609.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG03471.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0005 a0002c0002t0001 a0002c0002t0002 a0003c0003t0005	a0002c0002t0001g0061 a0002c0002t0001g0071 a0002c0002t0001g0078 others(2): Show a0002c0002t0001g0061 a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0002g0085 a0003c0003t0005g0004	5	102	0.0490	-191	c.849 others(19): Show c.849-52410_849-52220del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DGKB_chr7_14140049_14907751	14211758	ATGTTTTG others(184): Show ATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCAT GTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03209.hp1 HG01515.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0005 a0001c0004t0001 a0001c0003t0005 a0001c0004t0001	a0001c0003t0005g0124 a0001c0004t0001g0040 a0001c0003t0005g0124 a0001c0004t0001g0040	2	148	0.0135	-191	c.212 others(21): Show c.2123-33798_2123-33608del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1013791	CGCCTCCA others(184): Show CGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAG ACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-191	c.73+ others(19): Show c.73+105836_73+106026del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EP400_chr12_131944942_132085460	131995676	TGAATGAA others(184): Show TGAATGAATCCACCACAGCTTGACTGAATGTGCCGTTCATCCTGAGTGTG TGAGAACTTCATGTGAACGAATCCCACCACAGCTTGACTGAATGTACCGT TCATCTTGAGTGTGTGAGAACTTCATGTGAACGAATCCCACCGCAGCTTG ACTGAATGTGCCGTTCATCCTGAGTGTGTGAGAACTTCATAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG02965.hp1 HG02976.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2	a0004 a0006 a0017 a0004 a0006 a0017	a0004c0009 a0006c0010 a0017c0028 a0004c0009 a0006c0010 a0017c0028	a0004c0009t0004 a0006c0010t0004 a0017c0028t0004 a0004c0009t0004 a0006c0010t0004 a0017c0028t0004	a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 others(5): Show a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 a0004c0009t0004g0156 a0006c0010t0004g0150 a0006c0010t0004g0154 a0006c0010t0004g0157 a0017c0028t0004g0155	8	208	0.0385	-191	c.282 others(17): Show c.2827+724_2827+914del	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675150	GCCCCTCG others(184): Show GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02074.hp2 HG01952.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0093 a0001c0003t0004g0229 a0001c0001t0001g0093 a0001c0003t0004g0229	2	378	0.0053	-191	c.305 others(17): Show c.305-1294_305-1104del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675184	GTGAGGAC others(184): Show GTGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01891.hp2 HG01943.hp1 others(11): Show HG01258.hp2 HG01891.hp2 HG01943.hp1 HG02257.hp1 HG03130.hp1 HG03453.hp2 NA18970.hp2 NA18984.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp2 NA19068.hp1 NA19089.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0002g0012 a0001c0001t0002g0330	14	378	0.0370	-191	c.305 others(17): Show c.305-1328_305-1138del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675617	GCCCCTCG others(184): Show GCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0333 a0001c0002t0002g0333	1	378	0.0027	-191	c.305 others(17): Show c.305-1761_305-1571del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC6B_chr2_72170984_72831033	72401479	AAAATATT others(184): Show AAAATATTTTATATACATATATATATATATATATATACATATATACATAT ATATATATATATATATGTGTATATATATATATATATACATATATATATAT ATACATATATATATATATATATATGTGTATATATATATATATACATATAT ATATATATACATATATACATATATATATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0006 a0001c0002t0001g0007	2	104	0.0192	-191	c.198 others(21): Show c.1981-21800_1981-21610del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FGL1_chr8_17859389_17900524	17882914	TATAATAT others(184): Show TATAATATATCTCATATATAATATATTAAATAATATATAATATATATCAT ATATAATATATTAAATATATAATATATATCATATGTAATATATTAAATAT ATAATATATATCATATGTAATATATTAAATATATAATATATATCATATGT AATATATTAAATATATAATATATATCATATGTAATATATTAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02723.hp1 others(5): Show HG02109.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0253 a0004c0004t0001g0273 others(1): Show a0004c0004t0001g0003 a0004c0004t0001g0253 a0004c0004t0001g0273 a0004c0004t0001g0274	8	366	0.0219	-191	c.64- others(13): Show c.64-926_64-736del	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805248	TCCCTCCC others(184): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	314	0.0032	-191	c.10 others(11): Show c.1083_*1273del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		962		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805386	GACCTCCG others(184): Show GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0234 a0003c0003t0001g0234	1	314	0.0032	-191	c.12 others(11): Show c.1221_*1411del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1100		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807221	CTCCCCCC others(184): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA GCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02071.hp2 HG02135.hp1 others(2): Show HG01346.hp2 HG02071.hp2 HG02135.hp1 HG02735.hp2 NA18970.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0185 a0001c0001t0002g0001 a0001c0001t0002g0196 others(2): Show a0001c0001t0001g0185 a0001c0001t0002g0001 a0001c0001t0002g0196 a0002c0002t0001g0046 a0003c0003t0001g0238	5	314	0.0159	-191	c.30 others(11): Show c.3056_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2935		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132232974	TCCCTAGT others(184): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCT ACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0167 a0002c0032t0002g0167	1	183	0.0055	-191	c.107 others(21): Show c.1077+14745_1077+14935del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HOOK3_chr8_42891978_43035535	42982205	AGATCGTG others(184): Show AGATCGTGCCATTGCATTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTT AAAAAAAAAAAAAAAAGAAAAAAAAAAAGAAAAAAGGTAGAATAGAATAG AGGTTACCAGGGGATAGGGGAGGGAGGCATAGGGAATTGGTTACAGAGTT TGTGATTTGGATGATGAAAAAGTTTTGAAAATAGGTAGTAGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0023 a0001c0001t0065g0023	1	162	0.0062	-191	c.132 others(17): Show c.1322-418_1322-228del	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
INPP5E_chr9_136423619_136444845	136431350	CCCCCAGG others(184): Show CCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGG CCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACC TCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCAT CTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0195 a0001c0006t0004g0195	1	382	0.0026	-191	c.154 others(17): Show c.1549+283_1550-234del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
LHPP_chr10_124456823_124619141	124506699	GGGTAGGG others(184): Show GGGTAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGG GGTAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGGGGG TAGGGAGGATTTCAGGTGGAGAGGTAGACAGGATTTCAGGTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18961.hp1 NA19090.hp1 HG01257.hp2 NA18961.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0091 a0002c0002t0001g0198 a0001c0001t0001g0001 a0001c0001t0001g0091 a0002c0002t0001g0198	3	260	0.0115	-191	c.624 others(17): Show c.624+8574_624+8764del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19452160	GAAGAGAA others(184): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0125 a0002c0002t0003g0125	1	163	0.0061	-191	c.995 others(17): Show c.995+4562_995+4752del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452190	GAAGAGAA others(184): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp2 HG03098.hp1 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0005 a0002c0003t0003 a0002c0003t0005	a0002c0003t0003g0141 a0002c0003t0005g0024 a0002c0003t0003g0141 a0002c0003t0005g0024	2	163	0.0123	-191	c.995 others(17): Show c.995+4532_995+4722del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar

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Search Results (Total: 10000 hits)