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
AHRR_chr5_316714_443285	397254	ATCCACGT others(262): Show ATCCACGTAGCTCCTGACCGTCCATGTTAGCCCCTGACCATGTTAGCCCC TGACCATCCCTGTTAGCCCCTGACCATCCATGTAGCCCCTGACCATCCAT GTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCATGTTAGCCCCTG ACCATCCCTGTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGT TAGCCCCTGACCATCCACATAGCCCCTGACCATCCACGTAGCCCCTGACC ATCCACGTAGCCCCTGACCG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19083.hp1 NA18971.hp2 NA19083.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0022 a0002c0002 a0009c0022	a0002c0002t0001 a0009c0022t0001 a0002c0002t0001 a0009c0022t0001	a0002c0002t0001g0190 a0009c0022t0001g0023 a0002c0002t0001g0190 a0009c0022t0001g0023	2	268	0.0075	-269	c.352 others(19): Show c.352-16010_352-15742del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASAP1_chr8_130047104_130448674	130049218	AGAACACA others(262): Show AGAACACATGGGGGCAGAGGGGAACATATGGGGGGCAGAGGGGAACACAT GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAG AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAG AACACATGGGGGCAGAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02155.hp2 HG02293.hp1 others(2): Show HG01891.hp1 HG02155.hp2 HG02293.hp1 NA19063.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0031 a0001c0001t0001 a0001c0001t0011 a0001c0001t0031	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0102 a0001c0001t0011g0045 a0001c0001t0031g0289	5	308	0.0162	-269	c.52 others(11): Show c.5244_*5512del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2885		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79236807	GGTCCGTG others(262): Show GGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCACTGTGTACA CGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCCTTCCCCAC TGTGTACACAGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCA CTGTGTACACAGTCCGTGCATGAATCAGTGTCCACACCTGCCCCTTCCCC ACTGTGTACACGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCC CCTTCCCCACTGTGTACACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0095 a0001c0004t0002g0095	1	298	0.0034	-269	c.110 others(21): Show c.1108-16425_1108-16157del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BPHL_chr6_3113711_3158578	3134732	AGCTGGGA others(262): Show AGCTGGGAATACAGGCGCCTGCCACCACGCCCGGCTATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAACCACCGCGCCTGGCCAATTTTTGTATTTTTTGTAGAGACGGGGTT CCGCCACATTGCCCAGGCTGGTCTTGAACTCCTGGACTTAAGTAATCCAC CCACCTCAACCTTCCGAAGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	350	0.0029	-269	c.533 others(17): Show c.533-2622_533-2354del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CACNG7_chr19_53904278_53948950	53923233	TCTGGTCA others(262): Show TCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCC CAGGTCTGGTCATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGAGTTG CCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTATTGG TGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTC ATTGGTGGAGTTGTCCCAGG	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	364	0.0028	-269	c.424 others(17): Show c.424+7748_424+8016del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923280	CCCCAGGT others(262): Show CCCCAGGTCTGGTCATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGAG TTGCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTAT TGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTG GTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGT CTGGTCATTGGTGGAGTTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp2 others(55): Show HG00140.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18944.hp1 NA18949.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19077.hp2 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0093 others(52): Show a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0093 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0315 a0001c0001t0001g0352 a0001c0001t0002g0004 a0001c0001t0002g0091 a0001c0001t0002g0221 a0001c0001t0002g0235 a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0004g0217 a0001c0001t0005g0348 a0001c0001t0006g0351 a0001c0001t0007g0064 a0001c0001t0008g0025 a0001c0001t0012g0223 a0001c0001t0013g0009 a0001c0001t0014g0208 a0001c0001t0023g0214	58	364	0.1593	-269	c.424 others(17): Show c.424+7802_424+8070del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88950203	TCCCCTGG others(262): Show TCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTT CCAGGTCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGA GTGTTGGCACCTGTCTTCCGGGTCAGTTCACCCGTCCCCTGGACCGGCAC CGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGGTCAGTTCACCC GTCCCCTGGACCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCT TCCGGATCTGTTCACCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01071.hp2 others(4): Show HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01361.hp2 HG02698.hp2 HG03834.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020	a0001c0001t0001g0016 a0001c0001t0001g0266 a0001c0001t0001g0267 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0016g0023 a0001c0001t0020g0262	7	284	0.0247	-269	c.151 others(19): Show c.151+26185_151+26453del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDK12_chr17_39456486_39539544	39498938	TCTTTCTT others(262): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	260	0.0039	-269	c.242 others(19): Show c.2420-2307_2420-2039del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COBL_chr7_51011212_51321809	51203205	TAAAAAAA others(262): Show TAAAAAAAAAACTCTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02723.hp2 others(13): Show HG02257.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03669.hp2 NA18964.hp1 NA18975.hp2 NA18981.hp2 NA18988.hp1 NA19003.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0015 a0029	a0001c0002 a0001c0004 a0002c0003 others(7): Show a0001c0002 a0001c0004 a0002c0003 a0003c0001 a0004c0010 a0005c0005 a0006c0008 a0007c0018 a0015c0027 a0029c0042	a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 others(11): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0002c0003t0001 a0002c0003t0002 a0003c0001t0001 a0004c0010t0005 a0004c0010t0012 a0005c0005t0008 a0006c0008t0002 a0007c0018t0001 a0015c0027t0009 a0029c0042t0001	a0001c0002t0002g0224 a0001c0004t0001g0225 a0001c0004t0003g0227 others(13): Show a0001c0002t0002g0224 a0001c0004t0001g0225 a0001c0004t0003g0227 a0001c0004t0006g0003 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0003t0002g0226 a0003c0001t0001g0228 a0004c0010t0005g0164 a0004c0010t0012g0115 a0005c0005t0008g0167 a0006c0008t0002g0163 a0007c0018t0001g0185 a0015c0027t0009g0165 a0029c0042t0001g0166	16	230	0.0696	-269	c.246 others(17): Show c.246-9885_246-9617del	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
CROCC2_chr2_240901336_240998311	240977544	AGTCTCTG others(262): Show AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCT CAGGAGCCCAGACTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0017 a0017	a0017c0062 a0017c0062	a0017c0062t0001 a0017c0062t0001	a0017c0062t0001g0161 a0017c0062t0001g0161	1	350	0.0029	-269	c.440 others(19): Show c.4402-5335_4402-5067del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979389	AGTCTCTG others(262): Show AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCT CAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGA GCCCAGGCTCATCCCTGCTC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0169 a0031c0052t0001g0169	1	350	0.0029	-269	c.440 others(19): Show c.4402-3490_4402-3222del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CSMD1_chr8_2930361_4999914	3795709	CAAGTACA others(262): Show CAAGTACAGCTATAGATATCTATCATGTACAGCTATAGATACCTATCATG TACAGCTATAGATACCTATCATGTACAGATATAGATATATACCTATCATG TACAGATATAGATATATATCTATCATGTACAGATATAGATATATATCTAT CATGTACAGATATAGATATATATCTATCATGTACAGATATATATATCATG TACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACA GATATAGATATCTATCATGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01934.hp2 others(8): Show HG01243.hp2 HG01261.hp1 HG01934.hp2 HG02056.hp2 HG02258.hp2 HG02572.hp2 HG03130.hp2 HG04228.hp2 NA18979.hp1 NA18982.hp2 NA19060.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0018 a0035	a0001c0005 a0001c0071 a0001c0108 others(8): Show a0001c0005 a0001c0071 a0001c0108 a0001c0115 a0002c0012 a0002c0036 a0002c0048 a0004c0099 a0007c0029 a0018c0044 a0035c0098	a0001c0005t0002 a0001c0071t0069 a0001c0108t0054 others(8): Show a0001c0005t0002 a0001c0071t0069 a0001c0108t0054 a0001c0115t0042 a0002c0012t0017 a0002c0036t0029 a0002c0048t0013 a0004c0099t0014 a0007c0029t0011 a0018c0044t0064 a0035c0098t0025	a0001c0005t0002g0111 a0001c0071t0069g0115 a0001c0108t0054g0074 others(8): Show a0001c0005t0002g0111 a0001c0071t0069g0115 a0001c0108t0054g0074 a0001c0115t0042g0055 a0002c0012t0017g0088 a0002c0036t0029g0009 a0002c0048t0013g0015 a0004c0099t0014g0020 a0007c0029t0011g0054 a0018c0044t0064g0085 a0035c0098t0025g0019	11	126	0.0873	-269	c.819 others(19): Show c.819-41936_819-41668del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
ENTPD1_chr10_95751163_95882266	95809828	GGGGCAGC others(262): Show GGGGCAGCGGCCGGGCTGAGATGCTCCTCACTTCCCAGATGGGGCAGTGG CCAGGCAGAGGTGCTCCTCACTTCCCAGACGGGGCAGCTGCCGGGCAGAG GTGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACCT CCCAGAAAGGGCGGCCGGGCAGAGGCGCTTCTCACTTCCCAGACAGGGTC GCAGTCGGGCAGAGGCACTCCTCACTTCCCAGACAGGGTCGCGGTCGGGC AGAGGCACTCCTCACCTCCC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG02132.hp1 others(11): Show HG01261.hp1 HG01433.hp1 HG02132.hp1 HG02698.hp1 HG02886.hp2 HG03239.hp1 HG03579.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA19003.hp1 NA19063.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0059 a0001c0001t0002 a0001c0001t0006 a0001c0001t0059	a0001c0001t0002g0141 a0001c0001t0006g0130 a0001c0001t0006g0131 others(11): Show a0001c0001t0002g0141 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0142 a0001c0001t0059g0129	14	340	0.0412	-269	c.17- others(17): Show c.17-13406_17-13138del	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
FOXQ1_chr6_1307098_1319758	1319201	TGGTGGCG others(262): Show TGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02451.hp1 others(3): Show HG01109.hp1 HG02257.hp2 HG02451.hp1 HG02818.hp1 HG03225.hp1 NA20805.hp2	a0003 a0007 a0003 a0007	a0003c0002 a0007c0010 a0003c0002 a0007c0010	a0003c0002t0003 a0007c0010t0003 a0003c0002t0003 a0007c0010t0003	a0003c0002t0003g0000 a0007c0010t0003g0000 a0003c0002t0003g0000 a0007c0010t0003g0000	6	406	0.0148	-269	c.52 others(11): Show c.5286_*5554del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4444		chr6	TogoVar
GZMA_chr5_55097646_55115252	55105993	AAATAAAA others(262): Show AAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(121): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0002t0001g0037	124	390	0.3180	-269	c.215 others(15): Show c.215+378_215+646del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNG2_chr18_79792938_79905100	79886459	GGGACAGG others(262): Show GGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATG GGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGG GGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTG GGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAG GGACGTGGGGACAGGGACATGGGGACACAAGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	312	0.0032	-269	c.625 others(19): Show c.625-12578_625-12310del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KDM4B_chr19_4964113_5158598	5043646	TGCGTGGT others(262): Show TGCGTGGTGTTTATCGGAGTGGGGGTGTCCACCGTATCCTGCGTGGTGTT TATCGGAGTGCAGTGTCCGCCATATCCTGCGTGGTGTTTATCGGAGTGGG GGTGTCCACTGTATCCCGCGTGGTGGTTATCGGAGTGGGGTGTCCACCTT ATCCCGCGTGGTGTTTATCAGAGTGGGGTGTCCACCTTATCCCACTCTGT GTTTATCGGAGTGGGGTGTCCACCTTATCCCGTGCTGTGTTTATCGGAGT GGGGGTGTCCACCTTATCCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp2 HG02622.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0036 a0001c0001t0003 a0001c0001t0036	a0001c0001t0003g0090 a0001c0001t0036g0057 a0001c0001t0003g0090 a0001c0001t0036g0057	2	270	0.0074	-269	c.432 others(17): Show c.432+2427_432+2695del	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF5A_chr12_57545044_57591633	57558203	GAGACCAG others(262): Show GAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATATAA AAATTCTGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGG AGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATGGAGACCATCCTGGCC AACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGGCCAGGTG CGGTGGCTTACGCCTGTAATCTCAGCATTGGGAGGCCAAGGCGGGTGGAT CACCTGAGGTCAGGAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02027.hp2 others(17): Show HG00408.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02165.hp1 HG02523.hp2 HG03927.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18967.hp2 NA18979.hp2 NA18980.hp1 NA19003.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19082.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0025 a0001c0002t0043 others(2): Show a0001c0002t0007 a0001c0002t0025 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045	a0001c0002t0007g0012 a0001c0002t0007g0040 a0001c0002t0007g0222 others(12): Show a0001c0002t0007g0012 a0001c0002t0007g0040 a0001c0002t0007g0222 a0001c0002t0007g0223 a0001c0002t0007g0224 a0001c0002t0007g0226 a0001c0002t0007g0227 a0001c0002t0007g0228 a0001c0002t0007g0230 a0001c0002t0007g0231 a0001c0002t0025g0221 a0001c0002t0025g0225 a0001c0002t0043g0220 a0001c0002t0044g0229 a0001c0002t0045g0232	20	362	0.0553	-269	c.130 others(17): Show c.130-5224_130-4956del	KIF5A	ENSG00000155980.13	transcript	ENST00000455537.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr12	TogoVar
LHPP_chr10_124456823_124619141	124506962	GGGCGGGT others(262): Show GGGCGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTC GGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGT AGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCAG GGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAG GGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGG ATAGGGAAGATTTCAGGTGT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	260	0.0039	-269	c.624 others(17): Show c.624+8837_624+9105del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	949707	CAGAGACA others(262): Show CAGAGACAACGACAGAGTCAGAGACGACAGAGTCAGAGACGACAGAGTCA GAGCCAATGACAGAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGT CAGCCAATGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGA GTCAGCCAAGGACAGCGTCAGCCAACGACAGAATCAGAGACAACGACAGA GTCAGCCAACGACAGAGTCAGAGCCAATGAGAGTCAGAGCCAACGACAGA GTCAGAGACGACAGAGTCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(25): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG01081.hp1 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp1 HG03831.hp1 NA18612.hp2 NA18951.hp1 NA19003.hp2 NA19066.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0012	a0001c0004 a0001c0005 a0001c0006 others(8): Show a0001c0004 a0001c0005 a0001c0006 a0001c0022 a0002c0007 a0002c0054 a0003c0014 a0003c0015 a0005c0019 a0009c0024 a0012c0031	a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 others(10): Show a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0012 a0001c0006t0001 a0001c0022t0001 a0002c0007t0001 a0002c0054t0001 a0003c0014t0001 a0003c0015t0001 a0005c0019t0001 a0009c0024t0001 a0012c0031t0001	a0001c0004t0001g0061 a0001c0004t0004g0030 a0001c0005t0001g0109 others(25): Show a0001c0004t0001g0061 a0001c0004t0004g0030 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0005t0012g0110 a0001c0006t0001g0082 a0001c0006t0001g0092 a0001c0022t0001g0241 a0001c0022t0001g0268 a0002c0007t0001g0120 a0002c0054t0001g0114 a0003c0014t0001g0009 a0003c0014t0001g0010 a0003c0014t0001g0015 a0003c0014t0001g0016 a0003c0015t0001g0011 a0003c0015t0001g0013 a0003c0015t0001g0014 a0005c0019t0001g0060 a0005c0019t0001g0083 a0009c0024t0001g0117 a0009c0024t0001g0118 a0012c0031t0001g0012	28	294	0.0952	-269	c.503 others(17): Show c.503+4381_503+4649del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MAEA_chr4_1284891_1345137	1333836	TGTGCTCA others(262): Show TGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGCTCACCTCTGCACCCA CCCCATGCCCACCCCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCC GTGCCCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCC CTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCC CACCATGTGCTCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCT GCACCCATCCCATGCCTACC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	388	0.0026	-269	c.765 others(16): Show c.765+984_765+1252del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
NALCN_chr13_101048776_101421508	101414952	GTATACTA others(262): Show GTATACTACAGAAGAACGAAAAATCGACTCTAGAAAAGCACGCAGAATGA CAGCCAACCAGTTAGGGAGTAAATGTTTCTCGTTGCAGATGTTTGGGAAG CCATGATTTTTATTTAGAACTGTGGAAACCTTATCTTTGAATTTAAAAAG CCAGTCCTGAGATGCATCTGCCTCAGGGGTAACTACCATAGTGAAACCGC TCCTCTCCCAGGCCATATCAAATCACAGTTGTAGTTATGAACATACAAAT CACACACATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02809.hp1 others(3): Show HG02280.hp2 HG02486.hp1 HG02809.hp1 HG02895.hp1 HG03130.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0001c0020 a0005c0016	a0001c0001t0003 a0001c0004t0007 a0001c0010t0007 others(2): Show a0001c0001t0003 a0001c0004t0007 a0001c0010t0007 a0001c0020t0003 a0005c0016t0001	a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0004t0007g0163 others(3): Show a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0004t0007g0163 a0001c0010t0007g0167 a0001c0020t0003g0165 a0005c0016t0001g0166	6	176	0.0341	-269	c.-40 others(17): Show c.-40+1092_-40+1360del	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	1/43			chr13	TogoVar
NEU4_chr2_241804193_241822413	241805308	GACCTCCG others(262): Show GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0115 a0001c0005t0001g0115	1	319	0.0031	-269	c.-39 others(11): Show c.-3969_-3701del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3884		chr2	TogoVar
OXR1_chr8_106265190_106757694	106286214	AAGCCTGC others(262): Show AAGCCTGCCTGAAAGAGAAATTAGTCAAAACAAAACAAAAAGTAAAAAAG TACATCTAGCCCATTAATCCCACCACACCTGCAGCCAGTATGATTTCTGA ATATTTCAGCTGCATTAACCCATTATTTTTCACTTCTATTTAAGCTAATT TAAGTTAGGGTTTTTTTTTTTTTTTTTCAATGAAAAGAATTAAAACATAA ATGCTGCCTAAACTGTCCCTACACTGAGGTGGCAGCAGGAAGGGAGAGGT CTGAAGATATCATCTGGTAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG03130.hp2 others(2): Show HG02055.hp1 HG02965.hp2 HG03130.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002	a0001c0001t0002g0019 a0001c0001t0004g0092 a0001c0001t0006g0020 others(2): Show a0001c0001t0002g0019 a0001c0001t0004g0092 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0002t0002g0022	5	172	0.0291	-269	c.-13 others(21): Show c.-139+15850_-139+16118del	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKD1_chr16_2083708_2140898	2127901	CCAGGGAG others(262): Show CCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGG GCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGG AGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGG TGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGAGGGAGGGAG AGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAG GGAGAGGTGGGAGGGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0068 a0068	a0068c0107 a0068c0107	a0068c0107t0029 a0068c0107t0029	a0068c0107t0029g0214 a0068c0107t0029g0214	1	216	0.0046	-269	c.215 others(17): Show c.215+7305_215+7573del	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
RHPN1_chr8_143363876_143389221	143372955	CGCGGGTT others(262): Show CGCGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAG GGGATGGTGTGGGGGTTTGGGGATGGCGTGGGTTCCAGGGGACGGTGCGG GGGTTTGGGGATGGCGTGGGTTCCAGGGGACGGTGCGGGGGCTTGGGGGA TGGTGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGTGGGTTC CAGGGGATGGTGCAGGGGCTTGGGGGATGGCGTGGGTTCCAGGGGATGGT GCGGGGGCTTGGGGGATGGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp1 NA18522.hp1 HG02257.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0115 a0001c0001t0004g0044 a0001c0001t0004g0115	3	426	0.0070	-269	c.61- others(15): Show c.61-2596_61-2328del	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373365	CTTGGGGG others(262): Show CTTGGGGGATGGTGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGG CGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAG GGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAGGGGACGGGGCGG GGGCTTGGGGGATGGTGTGGGTTCCAGGGGACGGGGCGGGGATTTGGGGG ATGGCGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGCGGGTT CCAGGGGACGGGGCGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01255.hp1 others(5): Show HG01074.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG02683.hp1 HG03710.hp2 HG03927.hp1 NA20752.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0003 a0009c0008t0003 a0001c0001t0003 a0009c0008t0003	a0001c0001t0003g0008 a0001c0001t0003g0054 a0009c0008t0003g0055 a0001c0001t0003g0008 a0001c0001t0003g0054 a0009c0008t0003g0055	8	426	0.0188	-269	c.61- others(15): Show c.61-2136_61-1868del	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79919739	ACAGGAAC others(262): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG TGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGA GAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTC AGGGTCAGTGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	352	0.0028	-269	c.392 others(15): Show c.392-608_392-340del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920755	GTCAGAGG others(262): Show GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTC AGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0262 a0001c0001t0008g0262	1	352	0.0028	-269	c.392 others(17): Show c.392-1624_392-1356del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
THBS3_chr1_155190588_155212897	155190771	GGGGGGGC others(262): Show GGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGAC ACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGG GGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCT GGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACA CCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGC CGAGGTGACACCGTGGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03516.hp1 HG02630.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0005 a0001c0001t0001g0029	2	298	0.0067	-269	c.48 others(11): Show c.4801_*5069del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4816		chr1	TogoVar
TMEM41B_chr11_9275654_9319593	9316805	CAAGCAAA others(262): Show CAAGCAAAGGGTGGGAGAATGGAAAGAAATGCTACGAAAGATATGAGACC AGGACCTTATCACAAACTGCTAAAAGTTTGAACTTAATCCTCAAAGATAT TTAACCAGAGAGGGACTTAGTAAGATTTGTATTTTTGGCCGGGCACATTG GCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGTTGGATCAC CTGAGGTCAGGAGTTCAAGACCAGTTTGAAAACCCGTCTCTACTAAAAGT ACAAAAAATTAGCTGGGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(46): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18943.hp2 NA19030.hp2 NA19043.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0003t0004	a0001c0001t0003g0005 a0001c0001t0003g0029 a0001c0001t0003g0030 others(39): Show a0001c0001t0003g0005 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0007g0008 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0008g0024 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0008g0234 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0011g0009 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0011g0245 a0001c0001t0011g0255 a0001c0001t0020g0050 a0001c0003t0004g0294 a0001c0003t0004g0302	49	370	0.1324	-269	c.-26 others(11): Show c.-2633_-2365del	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding		2213		chr11	TogoVar
TMLHE_chrX_155484011_155617952	155560499	GCAGTGTG others(262): Show GCAGTGTGCTGGAAGTTGGACTTTGAAACATGGTGGTCAGGGTAGGCCTC ATTAAGAAAGATGACATTTGATCAAAGGAGGAGTTAGTCATAAGGATATC TGGGGTAAAGTAGACTAGGCAGAGGGGATAGCCAATGCAAAGGCTCTAAG TTGTGATTATATCTGTTGTGGCCAAAAGAAAAAAAAAAGAAAGAAAAAAC ATTGTAGCTGGAGCTCACTAAGCAAGAAGTAAAATAATAGATGAAGTGAG AAAGGTAGGAATAAATAGGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02922.hp1 HG01496.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0094 a0001c0001t0028g0095 a0001c0001t0007g0094 a0001c0001t0028g0095	2	216	0.0093	-269	c.-1- others(17): Show c.-1-15491_-1-15223del	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding	1/7			chrX	TogoVar
TRIM2_chr4_153199443_153344317	153314170	TAAAAGAG others(262): Show TAAAAGAGAGTCTAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02717.hp1 others(6): Show HG02109.hp1 HG02258.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG03098.hp2 HG03516.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0001c0002t0029 a0001c0002t0033	a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0003g0239 others(6): Show a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0003g0239 a0001c0002t0010g0134 a0001c0002t0013g0133 a0001c0002t0018g0009 a0001c0002t0018g0135 a0001c0002t0029g0261 a0001c0002t0033g0234	9	268	0.0336	-269	c.151 others(19): Show c.1511-1300_1511-1032del	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
UNC13C_chr15_53973441_54633605	54552424	ATAATATA others(262): Show ATAATATAATTATATATTACAATATATAATATAATTATATATTACAATAT ATAATATAATTATATATTATATTATATATAATTATATATTATATATTATA TATAATAATATAATTATATATTATATTGTATATAATTATATATTATATAT AATTATATTATATTGTACAATATATAATATATAATTATATAATTATATTA TATATTGTACAATATAATATAATTATATAATTATATTATATTGTACTATA TAATATAATTATATAATTAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	158	0.0063	-269	c.587 others(19): Show c.5877+2734_5878-2739del	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32			chr15	TogoVar
USP34_chr2_61182463_61476087	61413299	CAGAATTG others(262): Show CAGAATTGCCTGAACCTGGAAGGCGGAGGCTGCAGTGAGCCAAGATCGCG CCATTGCACTCCATCCTGGCAATACAGTGAGACTCAGTCTCAAAAAAATT AAAATAAAAAAATAAAAAAACAAAAGAGGCCGAGTGAGTGGCTCACGCCT GTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGACTGCCTGAGCTCAG GAGCTCGAGACCAGCCTGGGCAACATGGGGAAACCCCGTCTCTACTAGAT ACTCAGGAGGCTGAGGCAGG	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	312	0.0032	-269	c.131 others(17): Show c.131+7178_132-7172del	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	2/79			chr2	TogoVar
VIPR2_chr7_159023175_159149867	159090244	ACAATCCC others(262): Show ACAATCCCCAGTGACCTCAGCACAGACATGCTGGGACCACGCACAGGGGC CACCTCCTGCGACCACTGCAATCCCCAGTGACCTCGGCACAGACACGCTG GGACCCACGCACAGGGGCCACCTCTTGTGACCATCACAATCCCCGGTGAC CTCAGCAGAGACACACTGGGATCACGCACAGGGGCCACCTATTGTGACTA TCACAATCCCCGGTGACCTCAGCACAGACACGCTGGGATCACGCACAGGG GCCACCTCCTGCGACCATTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01361.hp1 others(2): Show HG01106.hp2 HG01255.hp1 HG01361.hp1 HG02293.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0021g0298	5	336	0.0149	-269	c.357 others(19): Show c.357+13244_357+13512del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159090253	AGTGACCT others(262): Show AGTGACCTCAGCACAGACATGCTGGGACCACGCACAGGGGCCACCTCCTG CGACCACTGCAATCCCCAGTGACCTCGGCACAGACACGCTGGGACCCACG CACAGGGGCCACCTCTTGTGACCATCACAATCCCCGGTGACCTCAGCAGA GACACACTGGGATCACGCACAGGGGCCACCTATTGTGACTATCACAATCC CCGGTGACCTCAGCACAGACACGCTGGGATCACGCACAGGGGCCACCTCC TGCGACCATTGCAATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00738.hp1 others(52): Show HG00408.hp1 HG00544.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01358.hp2 HG01361.hp2 HG01517.hp2 HG01993.hp2 HG02027.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02602.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG03195.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0001c0021 a0001c0023 a0002c0011 a0005c0022	a0001c0001t0003 a0001c0001t0029 a0001c0001t0045 others(18): Show a0001c0001t0003 a0001c0001t0029 a0001c0001t0045 a0001c0001t0054 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0017 a0001c0003t0020 a0001c0003t0027 a0001c0003t0035 a0001c0003t0039 a0001c0003t0046 a0001c0006t0002 a0001c0006t0055 a0001c0020t0003 a0001c0021t0003 a0001c0023t0002 a0002c0011t0015 a0005c0022t0003	a0001c0001t0003g0102 a0001c0001t0029g0065 a0001c0001t0045g0285 others(52): Show a0001c0001t0003g0102 a0001c0001t0029g0065 a0001c0001t0045g0285 a0001c0001t0054g0303 a0001c0003t0001g0100 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0125 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0196 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0132 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0144 a0001c0003t0003g0261 a0001c0003t0004g0139 a0001c0003t0004g0140 a0001c0003t0004g0142 a0001c0003t0014g0101 a0001c0003t0017g0126 a0001c0003t0017g0133 a0001c0003t0017g0231 a0001c0003t0020g0106 a0001c0003t0027g0108 a0001c0003t0035g0098 a0001c0003t0039g0112 a0001c0003t0046g0093 a0001c0006t0002g0092 a0001c0006t0002g0113 a0001c0006t0002g0319 a0001c0006t0055g0130 a0001c0020t0003g0121 a0001c0021t0003g0117 a0001c0023t0002g0123 a0002c0011t0015g0008 a0002c0011t0015g0023 a0002c0011t0015g0075 a0005c0022t0003g0116	55	336	0.1637	-269	c.357 others(19): Show c.357+13235_357+13503del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159090742	TGCTGGGA others(262): Show TGCTGGGACCACGCACAGGGGCCACCTCCTGCGACCACTGCAATCCCCAG TGACCTCGGCACAGACACGCTGGGACCCACGCACAGGGGCCACCTCTTGT GACCATCACAATCCCCGGTGACCTCAGCAGAGACACACTGGGATCACGCA CAGGGGCCACCTATTGTGACTATCACAATCCCCGGTGACCTCAGCACAGA CACGCTGGGATCACGCACAGGGGCCACCTCCTGCGACCATTGCAATCCCC GGTGACCTCAGCACAGACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00738.hp1 others(53): Show HG00408.hp1 HG00544.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01517.hp2 HG01993.hp2 HG02027.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02602.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG03195.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0001c0021 a0001c0023 a0002c0011 a0005c0022	a0001c0001t0003 a0001c0001t0029 a0001c0001t0045 others(18): Show a0001c0001t0003 a0001c0001t0029 a0001c0001t0045 a0001c0001t0054 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0017 a0001c0003t0020 a0001c0003t0027 a0001c0003t0035 a0001c0003t0039 a0001c0003t0046 a0001c0006t0002 a0001c0006t0055 a0001c0020t0003 a0001c0021t0003 a0001c0023t0002 a0002c0011t0015 a0005c0022t0003	a0001c0001t0003g0102 a0001c0001t0029g0065 a0001c0001t0045g0285 others(53): Show a0001c0001t0003g0102 a0001c0001t0029g0065 a0001c0001t0045g0285 a0001c0001t0054g0303 a0001c0003t0001g0100 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0125 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0196 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0132 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0144 a0001c0003t0003g0261 a0001c0003t0004g0139 a0001c0003t0004g0140 a0001c0003t0004g0141 a0001c0003t0004g0142 a0001c0003t0014g0101 a0001c0003t0017g0126 a0001c0003t0017g0133 a0001c0003t0017g0231 a0001c0003t0020g0106 a0001c0003t0027g0108 a0001c0003t0035g0098 a0001c0003t0039g0112 a0001c0003t0046g0093 a0001c0006t0002g0092 a0001c0006t0002g0113 a0001c0006t0002g0319 a0001c0006t0055g0130 a0001c0020t0003g0121 a0001c0021t0003g0117 a0001c0023t0002g0123 a0002c0011t0015g0008 a0002c0011t0015g0023 a0002c0011t0015g0075 a0005c0022t0003g0116	56	336	0.1667	-269	c.357 others(19): Show c.357+12746_357+13014del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
ZNF511_chr10_133303914_133318161	133317301	CCAGACAC others(262): Show CCAGACACACAGATGGAAAGGCCTCACCCCCCCAGGACACAGAGATGGAA AGACCACACCCCCCCTCCCCCAGGACACAGAGATGGAAAGACCACACCCC CCCAGGACACAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACAG AGATGGAAAGACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGAC CACACCCCCCACACACACAGAGATGGAAAGACCACACCCCCCCCAGACAC AGAGATGGAAAGACCACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	2	282	0.0071	-269	c.44 others(11): Show c.4436_*4704del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4141		chr10	TogoVar
ACSBG2_chr19_6130667_6198091	6152283	TTTTTTTT others(261): Show TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03017.hp1 HG03491.hp1 HG00558.hp1 HG03017.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0224 a0001c0001t0001g0254 a0001c0001t0001g0196 a0001c0001t0001g0224 a0001c0001t0001g0254	3	262	0.0115	-268	c.386 others(15): Show c.386+507_386+774del	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049434	GGGGGCAG others(261): Show GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGG AGGGCAGAGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0232 a0001c0009t0001g0232	1	308	0.0033	-268	c.50 others(11): Show c.5029_*5296del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2669		chr8	TogoVar
CASZ1_chr1_10631604_10801646	10744463	TGGGCACC others(261): Show TGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG GGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGG CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACC ACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCAC GAGCAGGCATGTCCTGGGC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	236	0.0042	-268	c.-77 others(19): Show c.-77+15970_-77+16237del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88950625	CCACAGAG others(261): Show CCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGT CCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTC CGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAG TGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGGCACC GCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCC TCCCCTGGATCGGCACCGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp2 others(6): Show HG00438.hp2 HG00597.hp1 HG00621.hp2 NA18947.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18998.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0001g0092 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0196	9	284	0.0317	-268	c.151 others(19): Show c.151+25764_151+26031del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDK12_chr17_39456486_39539544	39498940	TTTCTTTC others(261): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG03491.hp1 others(2): Show HG02109.hp1 HG02258.hp1 HG03491.hp1 HG03516.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0050 a0001c0001t0001 a0001c0001t0002 a0001c0001t0050	a0001c0001t0001g0129 a0001c0001t0001g0185 a0001c0001t0001g0194 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0002g0039 a0001c0001t0050g0150	5	260	0.0192	-268	c.242 others(19): Show c.2420-2307_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COBL_chr7_51011212_51321809	51203205	TAAAAAAA others(261): Show TAAAAAAAAAACTCTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	230	0.0044	-268	c.246 others(17): Show c.246-9884_246-9617del	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
DCAKD_chr17_45018344_45056632	45051709	CCGGGAGA others(261): Show CCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGG GCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGA GGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGG GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGC GGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGG TTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0110 a0001c0002t0037g0110	1	408	0.0025	-268	c.-73 others(9): Show c.-731_-464del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		78		chr17	TogoVar
DLGAP2_chr8_732628_1713476	1240811	ATGTCTAG others(261): Show ATGTCTAGTTACCTCTCACATGGTGCCATGTGTAGTTCTCTCTCACACAT AGTGTCATGTCTAGTTCTCTCTCACACAGAGTATCGTGTCTAGTTCTCTC ACATGGCACTGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTT ACATGGCGCCGTGTCTAGTTCTCTCACATGGTGCTGTGTCTAGTTCTCTC TCACACATAGCGTCATGTATAGTTCTGTCTCACACAGAGCATCGTGTCTG GTTCTCTCACATGGTGACG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-268	c.74- others(17): Show c.74-18030_74-17763del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565424	ACTCTGTC others(261): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	340	0.0029	-268	c.641 others(15): Show c.641-538_641-271del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565630	ACTCTGTC others(261): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	340	0.0029	-268	c.641 others(15): Show c.641-744_641-477del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565660	ACTCTGTC others(261): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	340	0.0029	-268	c.641 others(15): Show c.641-774_641-507del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar

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Search Results (Total: 10000 hits)