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
CCNY_chr10_35331509_35577667	35400011	AATATGTG others(81): Show AATATGTGGAGCTGGAGTCTCAGAGAAGGGACATGCAATGGGTCCCTTCT GACACCTGCCTGCTTCCCATCGCAGATCTCCCTTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18947.hp1 NA18981.hp1 HG00423.hp1 NA18947.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0067 a0001c0001t0002g0092 a0001c0001t0002g0106	3	296	0.0101	-88	c.154 others(107): Show c.154+62807_154+62894delATGTGGAGCTGGAGTCTCAGAGAAGG GACATGCAATGGGTCCCTTCTGACACCTGCCTGCTTCCCATCGCAGATCT CCCTTGCCTGAT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDC14B_chr9_96495113_96624843	96573686	CTACATGA others(81): Show CTACATGAAACCTGACATGCTAATACATGTAAATTGCATGCTGATGTATG AATTAAATGTAATAAATTTACATGTTACATGTAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0017 a0001c0002t0020g0017	1	220	0.0046	-88	c.161 others(105): Show c.161-8291_161-8204delATTTATTACATGTAACATGTAAATTTAT TACATTTAATTCATACATCAGCATGCAATTTACATGTATTAGCATGTCAG GTTTCATGTA	CDC14B	ENSG00000081377.17	transcript	ENST00000375241.6	protein_coding	1/13			chr9	TogoVar
CDCP1_chr3_45077277_45151378	45108744	CATATATA others(81): Show CATATATATGCATGTATATATATATATGCATGTATACATATATATGCATG TATATATATATATGCATGTATACATATATATGCATGTAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0007	a0004c0009t0007g0270 a0004c0009t0007g0270	1	384	0.0026	-88	c.102 others(107): Show c.1024+1641_1024+1728delATACATGCATATATATGTATACATGC ATATATATATATACATGCATATATATGTATACATGCATATATATATATAC ATGCATATATAT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDH18_chr5_19466296_19993200	19849599	CATATATA others(81): Show CATATATATACACGCATATATATATAAACATATATATACACGCATATATA TATAAACATATATATATACACGCATATATATATAAACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00609.hp2 others(58): Show HG00099.hp1 HG00280.hp1 HG00609.hp2 HG00639.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG06807.hp2 NA18522.hp2 NA18966.hp2 NA18968.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0029 a0001c0003t0001 a0001c0004t0012 a0001c0005t0009 a0001c0006t0027	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(58): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0002g0003 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0003g0033 a0001c0001t0003g0102 a0001c0001t0004g0043 a0001c0001t0004g0093 a0001c0001t0004g0132 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0007g0065 a0001c0001t0007g0099 a0001c0001t0008g0030 a0001c0001t0010g0096 a0001c0001t0010g0126 a0001c0001t0013g0130 a0001c0001t0014g0020 a0001c0001t0021g0117 a0001c0001t0023g0087 a0001c0001t0024g0029 a0001c0001t0025g0124 a0001c0001t0028g0012 a0001c0002t0003g0068 a0001c0002t0005g0055 a0001c0002t0005g0061 a0001c0002t0005g0063 a0001c0002t0005g0076 a0001c0002t0008g0128 a0001c0002t0029g0022 a0001c0003t0001g0057 a0001c0003t0001g0060 a0001c0003t0001g0101 a0001c0004t0012g0062 a0001c0005t0009g0028 a0001c0006t0027g0129	61	138	0.4420	-88	c.-25 others(109): Show c.-256-10445_-256-10358delATGTTTATATATATATGCGTGTAT ATATATATGTTTATATATATATGCGTGTATATATATGTTTATATATATAT GCGTGTATATATAT	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	2/12			chr5	TogoVar
CDH23_chr10_71391920_71820947	71760161	GTATATAC others(81): Show GTATATACATATATATGTGTGTATATATATGTATATACATATATATGTGT GTATATATGTGTATATATATGTATATACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp2 others(29): Show HG00140.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01256.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG02258.hp2 HG02559.hp2 HG02698.hp2 HG02738.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 NA18950.hp2 NA18963.hp2 NA19043.hp2 NA20905.hp2	a0001 a0002 a0005 others(15): Show a0001 a0002 a0005 a0010 a0012 a0014 a0026 a0028 a0038 a0055 a0058 a0069 a0071 a0077 a0094 a0098 a0102 a0105	a0001c0001 a0001c0017 a0002c0014 others(17): Show a0001c0001 a0001c0017 a0002c0014 a0005c0003 a0010c0019 a0012c0004 a0014c0015 a0014c0030 a0026c0046 a0028c0016 a0038c0137 a0055c0154 a0058c0162 a0069c0118 a0071c0050 a0077c0113 a0094c0088 a0098c0081 a0102c0075 a0105c0133	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0032 a0001c0017t0001 a0001c0017t0002 a0002c0014t0007 a0002c0014t0031 a0005c0003t0001 a0010c0019t0009 a0012c0004t0001 a0012c0004t0002 a0014c0015t0002 a0014c0015t0010 a0014c0030t0001 a0026c0046t0001 a0028c0016t0012 a0038c0137t0025 a0055c0154t0008 a0058c0162t0008 a0069c0118t0007 a0071c0050t0001 a0077c0113t0024 a0094c0088t0001 a0098c0081t0011 a0102c0075t0030 a0105c0133t0007	a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0063 others(29): Show a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0063 a0001c0001t0002g0083 a0001c0001t0011g0013 a0001c0001t0032g0037 a0001c0017t0001g0126 a0001c0017t0002g0092 a0002c0014t0007g0143 a0002c0014t0031g0029 a0005c0003t0001g0091 a0010c0019t0009g0025 a0010c0019t0009g0026 a0012c0004t0001g0097 a0012c0004t0002g0075 a0012c0004t0002g0087 a0014c0015t0002g0096 a0014c0015t0010g0004 a0014c0030t0001g0145 a0026c0046t0001g0140 a0028c0016t0012g0014 a0028c0016t0012g0015 a0038c0137t0025g0064 a0055c0154t0008g0034 a0058c0162t0008g0020 a0069c0118t0007g0115 a0071c0050t0001g0180 a0077c0113t0024g0078 a0094c0088t0001g0159 a0098c0081t0011g0028 a0102c0075t0030g0010 a0105c0133t0007g0189	32	196	0.1633	-88	c.484 others(109): Show c.4846-17517_4846-17430delATATACATATATATGTGTGTATAT ATATGTATATACATATATATGTGTGTATATATGTGTATATATATGTATAT ACATATATATGTAT	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH26_chr20_59953423_60019529	60016565	CAATTTGA others(81): Show CAATTTGACTTCCTCCTTTCTAATTTGAATTCCCTTTTTTTCTTCCTCTT GTCTTATTGCTCTGGCTAGGACATTCAGTATTATGTTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0015 a0002c0005t0015	a0002c0005t0015g0189 a0002c0005t0015g0189	1	288	0.0035	-88	c.38 others(99): Show c.3836_*3923delAATTTGACTTCCTCCTTTCTAATTTGAATTCCCT TTTTTTCTTCCTCTTGTCTTATTGCTCTGGCTAGGACATTCAGTATTATG TTGA	CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding		2037		chr20	TogoVar
CELF1_chr11_47460937_47558132	47541705	AGAAAGAA others(81): Show AGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAAAG AACGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18906.hp2 NA18999.hp2 HG03239.hp2 NA18906.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0095 a0001c0001t0003g0216 a0001c0001t0003g0039 a0001c0001t0003g0095 a0001c0001t0003g0216	3	340	0.0088	-88	c.-15 others(109): Show c.-154+11199_-154+11286delGTTCTTTCTTTCGTTCTTTCTTTC GTTCTTTCTTTCGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCTT TCTTTCTTTCTTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CFAP221_chr2_119539449_119661661	119552721	CTTTCTTT others(81): Show CTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTAATAAGAAATAAAT AGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG00738.hp2 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0219 a0002c0002t0001g0220	2	226	0.0089	-88	c.240 others(105): Show c.240+3557_240+3644delTAGAAATATTTCTTTAATAAGAAATAAA TAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTAAT AAGAAATAAA	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP221_chr2_119539449_119661661	119552742	TAGAAATA others(81): Show TAGAAATATTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAAT AAGAAATAAATAGAAATATTTCTTTAATAAGAAATAAAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	226	0.0044	-88	c.240 others(105): Show c.240+3572_240+3659delAATAAGAAATAAATAGAAATATTTCTTT CTTTAATAAGAAATAAATAGAAATATTTCTTTAATAAGAAATAAAGAGAA ATATTTCTTT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CHD5_chr1_6096787_6185321	6160298	CAGCCAGG others(81): Show CAGCCAGGGAAGGGCCCCAGCCAGGGAAGGGCCCCAGCAAGGGAAGAGCC CCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAGAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG03491.hp2 others(3): Show HG01261.hp2 HG01361.hp2 HG03491.hp2 HG03688.hp2 HG03927.hp2 NA18967.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0003 a0001c0009t0004 a0001c0010t0005 others(1): Show a0001c0009t0003 a0001c0009t0004 a0001c0010t0005 a0001c0010t0051	a0001c0009t0003g0281 a0001c0009t0004g0139 a0001c0010t0005g0098 others(3): Show a0001c0009t0003g0281 a0001c0009t0004g0139 a0001c0010t0005g0098 a0001c0010t0005g0123 a0001c0010t0005g0143 a0001c0010t0051g0238	6	320	0.0188	-88	c.208 others(103): Show c.208-871_208-784delAGGGCTCTTCTTCTCTGGCTGGGGCCCTTC CCTGGCTGGGGCTCTTCCCTTGCTGGGGCCCTTCCCTGGCTGGGGCCCTT CCCTGGCT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHRDL1_chrX_110668856_110800817	110689693	ATATATCT others(81): Show ATATATCTATATATCTATATATATATCTATATATATCTATATATCTATAT ATATCTATATATCTATATATCTATATATATCTATATATC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0072 a0004c0005t0050g0072	1	172	0.0058	-88	c.779 others(103): Show c.779-978_779-891delGATATATAGATATATATAGATATATAGATA TATAGATATATATAGATATATAGATATATATAGATATATATATAGATATA TAGATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(81): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02273.hp2 HG01981.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0131 a0001c0001t0003g0098 a0001c0001t0003g0131	2	254	0.0079	-88	c.131 others(107): Show c.131-13977_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757442	GAAAGAAA others(81): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03516.hp1 HG02451.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0001g0068 a0001c0002t0001g0073	2	254	0.0079	-88	c.131 others(107): Show c.131-13969_131-13882delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPX_chr15_65143219_65190342	65146016	TATAAATA others(81): Show TATAAATATATATATAAATATATATATAAATATATATATAAATATATATA TAAATATATATATAAATATATATATAAATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02559.hp2 HG02896.hp2 others(1): Show HG02165.hp1 HG02559.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0155	4	190	0.0211	-88	c.47 others(99): Show c.4719_*4806delTTATATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2202		chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140171701	TAATATGT others(81): Show TAATATGTATTATGTATTATATATTATATATAATATATTAATATATAATA TGTATAATATATAATATATAATATGTATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0038 a0002c0005t0004g0038	1	110	0.0091	-88	c.110 others(105): Show c.110-4249_110-4162delAATATGTATTATGTATTATATATTATAT ATAATATATTAATATATAATATGTATAATATATAATATATAATATGTATT ATATAATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140490011	CATGTGTG others(81): Show CATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0032 a0001c0014t0032	a0001c0014t0032g0028 a0001c0014t0032g0028	1	110	0.0091	-88	c.134 others(109): Show c.1344+23283_1344+23370delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL18A1_chr21_45400165_45518720	45501953	GCCTCCGC others(81): Show GCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCA CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG02129.hp1 others(6): Show HG00733.hp2 HG00738.hp1 HG02129.hp1 HG02258.hp2 HG02572.hp2 HG02717.hp2 HG02922.hp2 HG03688.hp2 NA19010.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0026	a0001c0003 a0001c0004 a0001c0007 others(4): Show a0001c0003 a0001c0004 a0001c0007 a0003c0046 a0011c0040 a0011c0104 a0026c0044	a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 others(4): Show a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0003c0046t0001 a0011c0040t0001 a0011c0104t0002 a0026c0044t0001	a0001c0003t0001g0181 a0001c0004t0001g0214 a0001c0007t0002g0185 others(6): Show a0001c0003t0001g0181 a0001c0004t0001g0214 a0001c0007t0002g0185 a0001c0007t0002g0208 a0003c0046t0001g0002 a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0026c0044t0001g0037	9	292	0.0308	-88	c.268 others(107): Show c.2684-2056_2684-1969delCTCCGCAGCCGGTCACCTCCCTCTGC AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCTCAGGGGCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COQ8A_chr1_226935294_226992544	226976129	GGGCTGCG others(81): Show GGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGCGGG GCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp2 HG02970.hp2 HG02145.hp1 HG02965.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0358 a0002c0004t0008g0359 a0002c0004t0008g0360 a0002c0004t0008g0358 a0002c0004t0008g0359 a0002c0004t0008g0360	3	412	0.0073	-88	c.656 others(105): Show c.656-1310_656-1223delACTGCGGGGCTGTGGGACTGCGATGTTG CCTGGCTGCGGGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCC TGGCTGCGGG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE2_chr16_57087583_57153369	57106611	AGAAGAGA others(81): Show AGAAGAGAAGTGTCTGATTTGGCAGCAGGAGATGGTGGCCCAGGTGGCAT CTAACATGTCACAGAGGGGGCCTGTGAAGTGAGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	362	0.0028	-88	c.-35 others(105): Show c.-35-4095_-35-4008delAAGAGAAGTGTCTGATTTGGCAGCAGGA GATGGTGGCCCAGGTGGCATCTAACATGTCACAGAGGGGGCCTGTGAAGT GAGGAGGGGG	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173317	ATACATAT others(81): Show ATACATATATATATACGTATATATATATGTATATATATATACGTATATAT ATATGTATATATATACGTATATATATATATACACATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0063 a0001c0001t0010g0063	1	388	0.0026	-88	c.11 others(101): Show c.11574_*11661delTACATATATATATACGTATATATATATGTATA TATATATACGTATATATATATGTATATATATACGTATATATATATATACA CATATG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1173		chr14	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667012	AAAGAAAG others(81): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00673.hp1 others(11): Show HG00408.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01993.hp2 HG02074.hp1 HG02523.hp1 HG02630.hp1 NA18747.hp1 NA18968.hp2 NA18988.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0004c0009 a0006c0023	a0001c0001t0001 a0001c0002t0002 a0001c0002t0023 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0023 a0001c0002t0024 a0001c0006t0002 a0002c0003t0003 a0004c0009t0012 a0006c0023t0001	a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0139 others(11): Show a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0167 a0001c0001t0001g0198 a0001c0002t0002g0130 a0001c0002t0023g0096 a0001c0002t0024g0147 a0001c0002t0024g0148 a0001c0006t0002g0135 a0001c0006t0002g0136 a0002c0003t0003g0109 a0004c0009t0012g0070 a0006c0023t0001g0196	14	238	0.0588	-88	c.-39 others(109): Show c.-391-65235_-391-65148delCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CYLC2_chr9_102990333_103023488	103014776	TTATGCAA others(81): Show TTATGCAATATACATATGTAATATACGTATGTATATTATGCAATATACAT ATGTAATATACGTATGTATATTATGCAATATACATAATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02698.hp1 HG03710.hp1 others(3): Show HG02132.hp2 HG02698.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012	a0001c0001t0003g0051 a0001c0001t0004g0206 a0001c0001t0005g0215 others(3): Show a0001c0001t0003g0051 a0001c0001t0004g0206 a0001c0001t0005g0215 a0001c0001t0008g0232 a0001c0001t0009g0207 a0001c0001t0012g0051	6	448	0.0134	-88	c.81 others(107): Show c.817-2107_*817-2020delCAATATACATATGTAATATACGTATG TATATTATGCAATATACATATGTAATATACGTATGTATATTATGCAATAT ACATAATATATG	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP4F2_chr19_15873023_15903074	15887492	ATAGACAT others(81): Show ATAGACATAGACACAGATATAGACACAGACACACACACATAGATAAAGTC ACAGACTTAGAAACACAGACACACAAATACACGTAAACC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp2 HG06807.hp2 others(1): Show HG03130.hp2 HG03453.hp2 HG06807.hp2 NA18522.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0173 a0004c0007t0001g0175 a0004c0007t0001g0176 others(1): Show a0004c0007t0001g0173 a0004c0007t0001g0175 a0004c0007t0001g0176 a0004c0007t0001g0177	4	380	0.0105	-88	c.919 others(105): Show c.919-1272_919-1185delGGTTTACGTGTATTTGTGTGTCTGTGTT TCTAAGTCTGTGACTTTATCTATGTGTGTGTGTCTGTGTCTATATCTGTG TCTATGTCTA	CYP4F2	ENSG00000186115.13	transcript	ENST00000221700.11	protein_coding	7/12			chr19	TogoVar
DCAKD_chr17_45018344_45056632	45051833	CCGGGAGA others(81): Show CCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGG GCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	408	0.0025	-88	c.-67 others(97): Show c.-675_-588delCGTCCGCCCGCCCGCCCAACCTCTCCCGCGTCCGCC CGCCCGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCCGCCCAACCTCTCC CG	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		202		chr17	TogoVar
DCDC1_chr11_30858603_31374739	31250358	GTTATGAA others(81): Show GTTATGAAAGGAATCAGAGTGAATGAATACACACACACACACACACACAC ACACACACATATACATATATATGTATATATATATATATC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0007 a0018c0018t0007	a0018c0018t0007g0009 a0018c0018t0007g0009	1	152	0.0066	-88	c.105 others(107): Show c.1055-8830_1055-8743delGATATATATATATATACATATATATG TATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCATTCACTCTGA TTCCTTTCATAA	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	GGCAGAGA others(81): Show GGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19083.hp1 HG00544.hp1 NA19083.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0181 a0002c0004t0003g0186 a0002c0004t0003g0181 a0002c0004t0003g0186	2	324	0.0062	-88	c.340 others(105): Show c.340-1593_340-1506delTGAGGAGGCTGCCAGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCUN1D2_chr13_113450819_113495711	113491316	CCCTTCCT others(81): Show CCCTTCCTTCCCTCCCTCCCTGGGGCTCCCCTCCCCTCTCTCCCTCCCCG GGGCTCACCTTCCCTTCTTCCCTTCCCAAGGGTCCCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	364	0.0028	-88	c.-73 others(97): Show c.-735_-648delAAGGGGACCCTTGGGAAGGGAAGAAGGGAAGGTGAG CCCCGGGGAGGGAGAGAGGGGAGGGGAGCCCCAGGGAGGGAGGGAAGGAA GG	DCUN1D2	ENSG00000150401.15	transcript	ENST00000478244.6	protein_coding		606		chr13	TogoVar
DDX51_chr12_132131594_132149319	132148890	ACCTCGGT others(81): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG06807.hp1 HG01257.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0008 a0001c0001t0001 a0003c0003t0008	a0001c0001t0001g0001 a0003c0003t0008g0045 a0001c0001t0001g0001 a0003c0003t0008g0045	2	334	0.0060	-88	c.-46 others(99): Show c.-4682_-4595delGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCA CTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACC GAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4572		chr12	TogoVar
DDX51_chr12_132131594_132149319	132148918	CACCACAC others(81): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG03041.hp1 others(5): Show HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp1 NA18953.hp2 NA18960.hp2 NA18970.hp2 NA18980.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0021	a0001c0001 a0002c0002 a0002c0022 others(2): Show a0001c0001 a0002c0002 a0002c0022 a0003c0006 a0021c0031	a0001c0001t0001 a0001c0001t0030 a0002c0002t0021 others(3): Show a0001c0001t0001 a0001c0001t0030 a0002c0002t0021 a0002c0022t0003 a0003c0006t0006 a0021c0031t0040	a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0030g0065 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0030g0065 a0002c0002t0021g0048 a0002c0022t0003g0035 a0003c0006t0006g0016 a0021c0031t0040g0086	8	334	0.0240	-88	c.-47 others(99): Show c.-4710_-4623delAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4600		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149050	CACCACAC others(81): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18998.hp1 HG03834.hp1 NA18998.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0010 a0003c0003t0001 a0002c0002t0010 a0003c0003t0001	a0002c0002t0010g0014 a0003c0003t0001g0002 a0002c0002t0010g0014 a0003c0003t0001g0002	2	334	0.0060	-88	c.-48 others(99): Show c.-4842_-4755delAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4732		chr12	TogoVar
DIP2C_chr10_269201_694668	532598	AGAGAGAG others(81): Show AGAGAGAGTATGGGTGTGAGAGAGAGTATGGGTGTGAGAGAGAGTATGGG TGTGAGAGAGAGTATGGGTGTGAGAGAGAGTATGGGTGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp1 HG03225.hp1 others(2): Show HG02809.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0018	a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0018t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0080 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0080 a0001c0005t0001g0009 a0001c0018t0003g0011	5	88	0.0568	-88	c.86- others(105): Show c.86-46156_86-46069delACACCCATACTCTCTCTCACACCCATAC TCTCTCTCACACCCATACTCTCTCTCACACCCATACTCTCTCTCACACCC ATACTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2713229	TCACCTCC others(81): Show TCACCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0054 a0001c0001t0028g0054	1	412	0.0024	-88	c.38 others(99): Show c.3893_*3980delGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAGGA GGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1337		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713439	CCTACACC others(81): Show CCTACACCCACCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTACA CCCATCACCTCCTCCACCCTTCATCCCATCCATCACTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03486.hp2 NA18906.hp2 HG03453.hp1 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017	a0001c0001t0008g0089 a0001c0001t0016g0026 a0001c0001t0017g0055 a0001c0001t0008g0089 a0001c0001t0016g0026 a0001c0001t0017g0055	3	412	0.0073	-88	c.36 others(99): Show c.3683_*3770delACAGTGATGGATGGGATGAAGGGTGGAGGAGGTG ATGGGTGTAGGAAGTGAGAGATGGCATTAAGGGTGGAGGAGGTGGTGGGT GTAG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1127		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713574	CCACGCAC others(81): Show CCACGCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	412	0.0024	-88	c.35 others(99): Show c.3548_*3635delTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTG CGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		992		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713870	CCCTCACT others(81): Show CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03130.hp2 NA18522.hp2 HG01192.hp1 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0012 a0001c0001t0018	a0001c0001t0012g0024 a0001c0001t0018g0102 a0001c0001t0012g0024 a0001c0001t0018g0102	3	412	0.0073	-88	c.32 others(99): Show c.3252_*3339delAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGT GAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		696		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713889	TCACCTCC others(81): Show TCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	-88	c.32 others(99): Show c.3233_*3320delGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGA GGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		677		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714207	CACCCTTC others(81): Show CACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCACCACCTTCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03209.hp1 NA20905.hp2 HG02886.hp1 HG03209.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0019 a0001c0002t0045 a0001c0001t0004 a0001c0001t0019 a0001c0002t0045	a0001c0001t0004g0005 a0001c0001t0019g0025 a0001c0002t0045g0085 a0001c0001t0004g0005 a0001c0001t0019g0025 a0001c0002t0045g0085	3	412	0.0073	-88	c.29 others(99): Show c.2915_*3002delTGAGAAGGTGGTGGGTGTAGGAAGTGAGGGATGG GATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAA GGGT	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		359		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714234	ACACCCGT others(81): Show ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTTCTCAACCCTTCACCCCATCCCTCACTTCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 NA21309.hp2 HG03490.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0022 a0001c0001t0029g0076 a0001c0001t0005g0022 a0001c0001t0029g0076	2	412	0.0049	-88	c.28 others(99): Show c.2888_*2975delGAGGAAGTGAGGGATGGGGTGAAGGGTTGAGAAG GTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACG GGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		332		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714285	CCACCTTC others(81): Show CCACCTTCTCAACCCTTCACCCCATCCCTCACTTCCTCCACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	412	0.0024	-88	c.28 others(99): Show c.2837_*2924delATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGGAGGAAGTGAGGGATGGGGTGAAGGGTTGAGAA GGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		281		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714329	CCACCTCC others(81): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG03098.hp2 HG01192.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0026 a0001c0001t0016g0074 a0001c0001t0016g0026 a0001c0001t0016g0074	2	412	0.0049	-88	c.27 others(99): Show c.2793_*2880delATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		237		chr19	TogoVar
DISC1_chr1_231621790_232046272	231796746	GGTTCTTT others(81): Show GGTTCTTTCACCCAGGCTGGAGTGTAATGGCATGATCATAGCTCACTCAG CCTTGATCTCCCGGGCTCAGGTAATCCTCCTGCCTCAGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0014 a0007c0011t0002g0014	1	40	0.0250	-88	c.168 others(107): Show c.1689+1451_1689+1538delGTTCTTTCACCCAGGCTGGAGTGTAA TGGCATGATCATAGCTCACTCAGCCTTGATCTCCCGGGCTCAGGTAATCC TCCTGCCTCAGC	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	7/12			chr1	TogoVar
DLG2_chr11_83450173_85632344	84502200	CTCCTTCC others(81): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	14	0.0714	-88	c.519 others(107): Show c.519+32282_519+32369delAAGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	1100114	ATGTACAG others(81): Show ATGTACAGTGTGTGTAGGGAAAAGCTTTGTCCAGCATGTCCACAGTGGAC AGCGTGTGTAGGGAAAACCTTTGTCCAGCATGTCCACAG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	-88	c.74- others(107): Show c.74-158729_74-158642delTGTGTGTAGGGAAAAGCTTTGTCCAG CATGTCCACAGTGGACAGCGTGTGTAGGGAAAACCTTTGTCCAGCATGTC CACAGTGTACAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1698471	CGTAAGCC others(81): Show CGTAAGCCATGCGTGGGACTAGGCAGGTCCACGTAAGCCACACATGGGAC AGGTCCATGTAAGCCATGCATGGGACTAGACAGGTCCAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02647.hp1 others(1): Show HG00639.hp2 HG01496.hp2 HG02647.hp1 HG02895.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0010 a0002c0007 others(1): Show a0001c0003 a0001c0010 a0002c0007 a0003c0005	a0001c0003t0017 a0001c0010t0025 a0002c0007t0008 others(1): Show a0001c0003t0017 a0001c0010t0025 a0002c0007t0008 a0003c0005t0004	a0001c0003t0017g0004 a0001c0010t0025g0012 a0002c0007t0008g0040 others(1): Show a0001c0003t0017g0004 a0001c0010t0025g0012 a0002c0007t0008g0040 a0003c0005t0004g0037	4	40	0.1000	-88	c.294 others(107): Show c.2949+1184_2949+1271delGTGGGACTAGGCAGGTCCACGTAAGC CACACATGGGACAGGTCCATGTAAGCCATGCATGGGACTAGACAGGTCCA AGTAAGCCATGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11694636	TTCTTGCT others(81): Show TTCTTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTT CTCGCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00642.hp2 others(24): Show HG00597.hp2 HG00621.hp1 HG00642.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02523.hp1 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp1 HG03831.hp1 HG04184.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA19066.hp2 NA19084.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0007 a0010 a0012 a0013 a0014 a0047 a0055 a0056 a0061 a0071 a0074	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0053 a0002c0005 a0002c0009 a0002c0114 a0002c0123 a0004c0071 a0004c0106 a0005c0108 a0007c0062 a0010c0113 a0012c0056 a0013c0058 a0013c0112 a0014c0074 a0047c0111 a0055c0073 a0056c0075 a0061c0115 a0071c0087 a0074c0118	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0014t0001 a0001c0053t0003 a0002c0005t0001 a0002c0009t0001 a0002c0114t0001 a0002c0123t0001 a0004c0071t0001 a0004c0106t0001 a0005c0108t0001 a0007c0062t0001 a0010c0113t0001 a0012c0056t0001 a0013c0058t0001 a0013c0112t0001 a0014c0074t0001 a0047c0111t0001 a0055c0073t0001 a0056c0075t0001 a0061c0115t0001 a0071c0087t0001 a0074c0118t0001	a0001c0001t0001g0028 a0001c0001t0001g0139 a0001c0002t0001g0145 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0139 a0001c0002t0001g0145 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0014t0001g0096 a0001c0053t0003g0021 a0002c0005t0001g0066 a0002c0005t0001g0077 a0002c0009t0001g0119 a0002c0114t0001g0031 a0002c0123t0001g0098 a0004c0071t0001g0116 a0004c0106t0001g0138 a0005c0108t0001g0030 a0007c0062t0001g0117 a0010c0113t0001g0137 a0012c0056t0001g0127 a0013c0058t0001g0157 a0013c0112t0001g0015 a0014c0074t0001g0084 a0047c0111t0001g0089 a0055c0073t0001g0016 a0056c0075t0001g0146 a0061c0115t0001g0079 a0071c0087t0001g0120 a0074c0118t0001g0105	27	178	0.1517	-88	c.487 others(105): Show c.4872+194_4872+281delGCTTTCTCGCTTTCTCGCTTTCTCGCTT TCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCTCTCTCTCTCTCTC TCTCTCTCTT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11712008	ATATATTT others(81): Show ATATATTTATATATAAATATATATATTTATATATATTTATATATAAATAT ATATATTTGTATATATATAAATATATTTGTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0004 a0004	a0004c0054 a0004c0054	a0004c0054t0001 a0004c0054t0001	a0004c0054t0001g0144 a0004c0054t0001g0144	1	178	0.0056	-88	c.555 others(107): Show c.5552+6829_5552+6916delTTATATATAAATATATATATTTATAT ATATTTATATATAAATATATATATTTGTATATATATAAATATATTTGTAT ATATATTTATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNM1L_chr12_32674301_32750650	32717340	ACTATATA others(81): Show ACTATATATTATATATAGTATATATAATATATATACTATATATAATATAT AGTATATATAATATATAATATATATTTTAAATATATACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01071.hp1 others(16): Show HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp2 HG01515.hp1 HG01884.hp1 HG02257.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02922.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0019 a0001c0002t0002g0022 a0001c0002t0002g0023 others(16): Show a0001c0002t0002g0019 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0227 a0001c0004t0002g0018 a0001c0004t0002g0037	19	230	0.0826	-88	c.620 others(105): Show c.620-1302_620-1215delCTATATATTATATATAGTATATATAATA TATATACTATATATAATATATAGTATATATAATATATAATATATATTTTA AATATATACT	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19			chr12	TogoVar
DNM2_chr19_10713079_10836903	10798641	GCATGCTG others(81): Show GCATGCTGACAGCTGCATATGGCAAAGTAACCCTTACCTCAATCAAGATA CAGAGCGGTTCCGTCACCTCCTAAAATCCCTGTCCCTAT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0056 a0002c0006t0002g0056	1	278	0.0036	-88	c.142 others(105): Show c.1422+145_1422+232delTCCCTGTCCCTATCATGCTGACAGCTGC ATATGGCAAAGTAACCCTTACCTCAATCAAGATACAGAGCGGTTCCGTCA CCTCCTAAAA	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK8_chr9_209865_470255	403906	ATATATAT others(81): Show ATATATATATACATATATATATATGTGTATATATATATGTGTATATATAT ATATGTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0012 a0012	a0012c0148 a0012c0148	a0012c0148t0017 a0012c0148t0017	a0012c0148t0017g0070 a0012c0148t0017g0070	1	256	0.0039	-88	c.323 others(106): Show c.3235-1001_3235-914delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATGT GTATATATATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK7_chr4_3458306_3499482	3483059	CAGGGGTG others(81): Show CAGGGGTGTGGAGGGTGGGGGTGGCAGCCTCCTGAGTGGAGATGTAGGGG TGTGGAGGGTGGGGACGGCAGCCTCCTGAGTGGAGATGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	404	0.0025	-88	c.533 others(105): Show c.533-2460_533-2373delGTGGCAGCCTCCTGAGTGGAGATGTAGG GGTGTGGAGGGTGGGGACGGCAGCCTCCTGAGTGGAGATGTAGGGGTGTG GAGGGTGGGG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar

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