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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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
CYP4F11_chr19_15907377_15939529	15934001	TGGGCAGA others(33): Show TGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0068 a0002c0001t0068	a0002c0001t0068g0045 a0002c0001t0068g0045	1	386	0.0026	-40	c.198 others(55): Show c.198+170_198+209delGCTCACTCATTCCTCTGCCCACTCACTCAT TCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15934005	CAGAGGAA others(33): Show CAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG02109.hp2 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0078 a0002c0001t0082 a0002c0001t0078 a0002c0001t0082	a0002c0001t0078g0056 a0002c0001t0082g0053 a0002c0001t0078g0056 a0002c0001t0082g0053	2	386	0.0052	-40	c.198 others(55): Show c.198+166_198+205delCCCCGCTCACTCATTCCTCTGCCCACTCAC TCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15676632	TACTCATT others(33): Show TACTCATTCCTCTATCCATTCACTCATTCCTCTCCTCACTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 NA20129.hp2 HG01884.hp2 HG02451.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0026 a0004c0004 a0004c0026	a0004c0004t0001 a0004c0026t0001 a0004c0004t0001 a0004c0026t0001	a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0026t0001g0222 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0026t0001g0222	3	410	0.0073	-40	c.199 others(57): Show c.199-1616_199-1577delATCCATTCACTCATTCCTCTCCTCACTC ACTCATTCCTCT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241742958	GTGAGGGG others(33): Show GTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	412	0.0024	-40	c.490 others(55): Show c.490+412_490+451delAGCGTGGCAGGCATGAGGGGATCCTGACCC AGGGCGCCAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241752070	GGCAGTGG others(33): Show GGCAGTGGGAGGCGCCCTTGGTCACCGTCACCAGGGCCTGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00621.hp1 others(50): Show HG00140.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01167.hp2 HG01175.hp2 HG01256.hp2 HG01346.hp2 HG01516.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02615.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03130.hp2 HG03516.hp2 HG03579.hp2 HG04204.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18963.hp2 NA18970.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA20129.hp2	a0002 a0007 a0010 others(2): Show a0002 a0007 a0010 a0013 a0015	a0002c0002 a0007c0007 a0007c0017 others(3): Show a0002c0002 a0007c0007 a0007c0017 a0010c0014 a0013c0037 a0015c0019	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0015 a0007c0007t0005 a0007c0017t0008 a0010c0014t0003 a0013c0037t0001 a0015c0019t0002	a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0143 others(46): Show a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0180 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0002g0078 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0155 a0002c0002t0003g0265 a0002c0002t0004g0016 a0002c0002t0004g0179 a0002c0002t0004g0192 a0002c0002t0004g0193 a0002c0002t0004g0197 a0002c0002t0004g0202 a0002c0002t0004g0204 a0002c0002t0004g0209 a0002c0002t0005g0140 a0002c0002t0007g0004 a0002c0002t0007g0097 a0002c0002t0007g0131 a0002c0002t0008g0077 a0002c0002t0015g0135 a0002c0002t0015g0148 a0007c0007t0005g0350 a0007c0017t0008g0375 a0010c0014t0003g0275 a0010c0014t0003g0276 a0010c0014t0003g0294 a0013c0037t0001g0301 a0015c0019t0002g0096	53	412	0.1286	-40	c.114 others(57): Show c.1140+691_1140+730delAGGCGCCCTTGGTCACCGTCACCAGGGC CTGAGCAGTGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAB1_chr1_56989778_57429060	57273541	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0130 a0001c0001t0015g0130	1	138	0.0073	-40	c.67+ others(57): Show c.67+17383_67+17422delAAGGAAGGAAGGAAGGAAGGAAGGAAGG CAGGCAGGCAGG	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57367043	CAAAATAA others(33): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG02145.hp1 others(4): Show HG00639.hp1 HG01081.hp2 HG02145.hp1 HG02698.hp1 HG02922.hp2 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0002g0097 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0002g0097 a0001c0001t0003g0037 a0001c0001t0003g0133 a0001c0001t0004g0036 a0001c0001t0006g0038	7	138	0.0507	-40	c.-13 others(61): Show c.-137+56847_-137+56886delATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14			chr1	TogoVar
DACH1_chr13_71432966_71872204	71552766	CATATATA others(33): Show CATATATATATATATATATGGATGTGAATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	102	0.0098	-40	c.157 others(59): Show c.1570+4218_1570+4257delATATATATATATATTCACATCCATAT ATATATATATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71654418	ATAAAATA others(33): Show ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20300.hp2 HG02622.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0032 a0001c0001t0004g0046 a0001c0001t0002g0032 a0001c0001t0004g0046	2	102	0.0196	-40	c.965 others(59): Show c.965-23741_965-23702delCTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	2/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71748878	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	102	0.0098	-40	c.849 others(59): Show c.849-67008_849-66969delAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71816591	TACACACA others(33): Show TACACACATATGTGTGTATATATATACACGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00735.hp1 others(47): Show HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01109.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 NA18522.hp2 NA18959.hp1 NA18959.hp2 NA19030.hp2 NA19043.hp1 NA19082.hp1 NA19082.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0002c0002 a0002c0007 a0002c0011 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0005t0002 a0001c0006t0001 a0001c0006t0003 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0007t0002 a0002c0011t0003 a0003c0003t0002 a0003c0003t0005 a0003c0003t0013 a0004c0004t0001 a0004c0004t0014	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 others(47): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0003g0011 a0001c0001t0003g0019 a0001c0001t0004g0018 a0001c0001t0004g0038 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0006g0001 a0001c0001t0007g0015 a0001c0001t0010g0020 a0001c0001t0012g0021 a0001c0001t0015g0100 a0001c0005t0002g0041 a0001c0005t0002g0043 a0001c0006t0001g0057 a0001c0006t0003g0056 a0001c0009t0001g0030 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0002g0065 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0003g0081 a0002c0002t0004g0060 a0002c0002t0004g0074 a0002c0002t0004g0077 a0002c0002t0005g0079 a0002c0002t0008g0066 a0002c0007t0002g0067 a0002c0011t0003g0080 a0003c0003t0002g0002 a0003c0003t0005g0004 a0003c0003t0013g0006 a0004c0004t0001g0097 a0004c0004t0014g0102	50	102	0.4902	-40	c.848 others(59): Show c.848+49291_848+49330delGTATATATACACGTGTATATATATAC ACACATATGTGTGT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86205458	CTCCCTCC others(33): Show CTCCCTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18906.hp2 HG02723.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0127 a0001c0001t0002g0111 a0001c0001t0001g0127 a0001c0001t0002g0111	2	166	0.0121	-40	c.488 others(59): Show c.488+56354_488+56393delCTCCCTCCTTCCCTCCTTCCCTCCTT CCCTCCTTCCTTCC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAGLB_chr7_6404129_6452954	6421307	TCAGGCAG others(33): Show TCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0016	1	380	0.0026	-40	c.121 others(57): Show c.1218+380_1218+419delCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAPK1_chr9_87492867_87713634	87575213	CAATAAAA others(33): Show CAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00609.hp1 others(36): Show HG00280.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG01099.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02071.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19079.hp1 NA19081.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0030 a0001c0036 a0002c0003 a0002c0006 a0002c0008 a0002c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005 a0001c0002t0011 a0001c0004t0001 a0001c0004t0005 a0001c0004t0014 a0001c0005t0001 a0001c0009t0001 a0001c0030t0001 a0001c0036t0001 a0002c0003t0001 a0002c0006t0001 a0002c0008t0001 a0002c0016t0003	a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0096 others(36): Show a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0157 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0003g0113 a0001c0001t0008g0091 a0001c0001t0008g0209 a0001c0002t0001g0022 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0211 a0001c0002t0001g0227 a0001c0002t0005g0184 a0001c0002t0011g0077 a0001c0004t0001g0002 a0001c0004t0001g0076 a0001c0004t0001g0090 a0001c0004t0001g0177 a0001c0004t0001g0208 a0001c0004t0005g0185 a0001c0004t0014g0178 a0001c0005t0001g0093 a0001c0005t0001g0152 a0001c0009t0001g0095 a0001c0030t0001g0153 a0001c0036t0001g0020 a0002c0003t0001g0012 a0002c0003t0001g0073 a0002c0003t0001g0138 a0002c0006t0001g0142 a0002c0006t0001g0143 a0002c0006t0001g0167 a0002c0006t0001g0229 a0002c0008t0001g0011 a0002c0016t0003g0114	39	236	0.1653	-40	c.63- others(57): Show c.63-29719_63-29680delATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAP_chr5_10674230_10766234	10758397	TTGGCATT others(33): Show TTGGCATTTGAGGGGTGCTGTTGGCATTTGAGGGATGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(75): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01981.hp1 HG02055.hp2 HG02155.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18959.hp2 NA18965.hp2 NA18981.hp1 NA18990.hp2 NA18991.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(69): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0006g0018 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0336 a0001c0001t0007g0103 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0240 a0001c0001t0007g0249 a0001c0001t0007g0260 a0001c0001t0007g0264 a0001c0001t0010g0193 a0001c0001t0018g0300 a0001c0001t0018g0329 a0001c0001t0024g0246 a0001c0001t0031g0338 a0001c0002t0001g0199	78	372	0.2097	-40	c.55+ others(55): Show c.55+2577_55+2616delGCAGCATCCCTCAAATGCCAACAGCACCCC TCAAATGCCA	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	1/3			chr5	TogoVar
DBNDD1_chr16_89999871_90024456	90008260	CCACACCT others(33): Show CCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02895.hp1 others(1): Show HG02622.hp2 HG02717.hp2 HG02895.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0012 a0001c0001t0001 a0001c0001t0002 a0002c0003t0012	a0001c0001t0001g0076 a0001c0001t0002g0232 a0002c0003t0012g0025 a0001c0001t0001g0076 a0001c0001t0002g0232 a0002c0003t0012g0025	4	412	0.0097	-40	c.319 others(55): Show c.319+484_319+523delTTTGGGGGGTGAGGCCCCTTGGGACGTCCT GGGAGGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DCAF10_chr9_37795797_37872664	37850826	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0033 a0001c0001t0012 a0001c0001t0033	a0001c0001t0012g0002 a0001c0001t0012g0054 a0001c0001t0012g0055 others(1): Show a0001c0001t0012g0002 a0001c0001t0012g0054 a0001c0001t0012g0055 a0001c0001t0033g0053	5	356	0.0140	-40	c.852 others(57): Show c.852-3937_852-3898delTATATATATATATATATATATATATATA TATATATATATA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCC_chr18_52335197_53540899	52427815	TCTTCCTT others(33): Show TCTTCCTTCCTTCCTTCCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0089 a0002c0001t0002g0089	1	114	0.0088	-40	c.91+ others(57): Show c.91+86957_91+86996delTCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52642022	ATATATAT others(33): Show ATATATATATATATATATATATATACTGTGGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0080 a0002c0001t0001g0080	1	114	0.0088	-40	c.92- others(59): Show c.92-110013_92-109974delTATATACTGTGGTGTGTGTGTGTATA TATATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52927076	TGTGTATA others(33): Show TGTGTATATACACGTATATACGTGTATATACACGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01993.hp1 HG02080.hp2 others(8): Show HG00738.hp2 HG01993.hp1 HG02080.hp2 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG03130.hp2 HG03209.hp2 HG03669.hp1 NA18966.hp2 NA20129.hp2	a0002 a0006 a0002 a0006	a0002c0001 a0002c0004 a0006c0019 a0002c0001 a0002c0004 a0006c0019	a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 others(6): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0006 a0002c0004t0003 a0002c0004t0013 a0002c0004t0014 a0002c0004t0017 a0006c0019t0005	a0002c0001t0001g0067 a0002c0001t0002g0017 a0002c0001t0005g0078 others(8): Show a0002c0001t0001g0067 a0002c0001t0002g0017 a0002c0001t0005g0078 a0002c0001t0005g0088 a0002c0001t0006g0010 a0002c0004t0003g0012 a0002c0004t0003g0023 a0002c0004t0013g0042 a0002c0004t0014g0043 a0002c0004t0017g0062 a0006c0019t0005g0014	11	114	0.0965	-40	c.985 others(57): Show c.985+1736_985+1775delCACGTATATACGTGTATATACACGTATA TACGTGTATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53047272	ATATATAT others(33): Show ATATATATATATATATAATTTTATATATATATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG02717.hp1 others(3): Show HG00642.hp1 HG01346.hp2 HG02717.hp1 HG03139.hp2 HG03579.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0013 a0001c0002 a0001c0008 a0002c0013	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(2): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0008t0023 a0002c0013t0001	a0001c0002t0002g0038 a0001c0002t0006g0006 a0001c0002t0006g0021 others(3): Show a0001c0002t0002g0038 a0001c0002t0006g0006 a0001c0002t0006g0021 a0001c0002t0009g0049 a0001c0008t0023g0098 a0002c0013t0001g0068	6	114	0.0526	-40	c.986 others(59): Show c.986-16020_986-15981delTATAATTTTATATATATATATATAAT TTTATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2C_chr2_3698575_3853008	3755190	GATGCATA others(33): Show GATGCATATGTGTGCATGGGTGCATATGATGTGTGCATGAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20300.hp1 HG02630.hp2 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0016 a0002c0003t0002 a0002c0003t0016	a0002c0003t0002g0221 a0002c0003t0016g0011 a0002c0003t0002g0221 a0002c0003t0016g0011	2	324	0.0062	-40	c.726 others(55): Show c.726+557_726+596delATGCATATGTGTGCATGGGTGCATATGATG TGTGCATGAT	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	6/10			chr2	TogoVar
DCLK2_chr4_150073445_150262438	150190235	TTAGATAG others(33): Show TTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	116	0.0086	-40	c.757 others(57): Show c.757-2879_757-2840delATAGATAGATAGATAGATAGATAGATAG ATAGATAGATAG	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150195156	TAATATTA others(33): Show TAATATTATATATTATATACAATATTATATATTATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG01975.hp1 others(7): Show HG00544.hp2 HG00558.hp1 HG01975.hp1 HG02129.hp1 HG02451.hp1 HG02970.hp1 HG03516.hp1 NA18971.hp2 NA18983.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0006 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0002c0002t0004 a0002c0006t0004 a0002c0006t0006 a0002c0008t0006	a0001c0001t0001g0033 a0001c0001t0001g0112 a0001c0001t0002g0005 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0112 a0001c0001t0002g0005 a0001c0001t0002g0040 a0001c0007t0002g0113 a0002c0002t0004g0052 a0002c0006t0004g0107 a0002c0006t0006g0108 a0002c0006t0006g0109 a0002c0008t0006g0032	10	116	0.0862	-40	c.859 others(57): Show c.859+1975_859+2014delCAATATTATATATTATATAAACAATATT ATATATTATATA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCTN5_chr16_23636466_23682472	23645083	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0065 a0001c0003t0043g0065	1	314	0.0032	-40	c.117 others(57): Show c.117+2076_117+2115delATATATATATATATATATATATATATAT ATATATATATAT	DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCTN5_chr16_23636466_23682472	23645099	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01169.hp2 others(2): Show HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0042 a0001c0003t0010 a0001c0003t0042	a0001c0003t0010g0012 a0001c0003t0010g0260 a0001c0003t0042g0066 a0001c0003t0010g0012 a0001c0003t0010g0260 a0001c0003t0042g0066	5	314	0.0159	-40	c.117 others(57): Show c.117+2078_117+2117delATATATATATATATATATATATATATAT ATATATATATTT	DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCTN5_chr16_23636466_23682472	23645105	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0255 a0001c0003t0044g0255	1	314	0.0032	-40	c.117 others(57): Show c.117+2084_117+2123delATATATATATATATATATATATATATAT ATATTTTTTTTT	DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCT_chr13_94431811_94484682	94465968	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp1 HG02486.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0231 a0001c0004t0006g0232 a0001c0004t0006g0231 a0001c0004t0006g0232	2	336	0.0060	-40	c.697 others(55): Show c.697-209_697-170delTATATATATATATATATATATATATATATA TATATATATA	DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	3/7			chr13	TogoVar
DCT_chr13_94431811_94484682	94472536	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02647.hp2 others(2): Show HG02486.hp2 HG02572.hp2 HG02647.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0141 a0001c0001t0008g0002 a0001c0001t0008g0140 others(1): Show a0001c0001t0006g0141 a0001c0001t0008g0002 a0001c0001t0008g0140 a0001c0001t0008g0142	5	336	0.0149	-40	c.296 others(57): Show c.296-3531_296-3492delAAAAAAAATATATATATATATATATATA TATATATATATA	DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7			chr13	TogoVar
DDA1_chr19_17304563_17328298	17315160	CACACGTG others(33): Show CACACGTGTATATACACACACGTGTATACACACACGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG03130.hp1 HG01891.hp1 HG02615.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0013g0239 a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0013g0239	3	388	0.0077	-40	c.137 others(55): Show c.137-769_137-730delGTGTATATACACACACGTGTATACACACAC GTGTATACAC	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDB1_chr11_61294451_61338105	61316946	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	180	0.0056	-40	c.122 others(57): Show c.1226-419_1226-380delATATATATATATATATATATATATATAT ATATATATATAT	DDB1	ENSG00000167986.15	transcript	ENST00000301764.12	protein_coding	10/26			chr11	TogoVar
DDX23_chr12_48824756_48857163	48841991	GCCGCCCC others(33): Show GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGACAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	348	0.0029	-40	c.320 others(57): Show c.320+1909_321-1886delTTGTCAGGCAGAGGGTCTCCTCACTTCT CAGACGGGGCGG	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DDX60_chr4_168211294_168323752	168238420	GAGGGAAG others(33): Show GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01928.hp1 HG01934.hp1 others(22): Show HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp2 NA18944.hp1 NA18948.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19054.hp2 NA19055.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0001c0028 a0002c0002 others(1): Show a0001c0016 a0001c0028 a0002c0002 a0002c0035	a0001c0016t0001 a0001c0028t0001 a0002c0002t0001 others(1): Show a0001c0016t0001 a0001c0028t0001 a0002c0002t0001 a0002c0035t0001	a0001c0016t0001g0250 a0001c0016t0001g0251 a0001c0028t0001g0159 others(22): Show a0001c0016t0001g0250 a0001c0016t0001g0251 a0001c0028t0001g0159 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0085 a0002c0002t0001g0098 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0035t0001g0231	25	270	0.0926	-40	c.416 others(57): Show c.4165-665_4165-626delTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	30/37			chr4	TogoVar
DECR2_chr16_396885_417482	407920	CATCTCCG others(33): Show CATCTCCGGCCCCCTGTCTCCGGGCCCCTGTCTCCAGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	367	0.0027	-40	c.337 others(55): Show c.337+361_337+400delATCTCCGGCCCCCTGTCTCCGGGCCCCTGT CTCCAGGCCT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8			chr16	TogoVar
DEFA1_chr8_6972649_6985092	6974207	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA18960.hp2 HG02895.hp1 HG02897.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0002 a0001c0001t0001 a0002c0005t0002	a0001c0001t0001g0057 a0002c0005t0002g0021 a0001c0001t0001g0057 a0002c0005t0002g0021	3	408	0.0074	-40	c.35 others(51): Show c.3523_*3562delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3441		chr8	TogoVar
DEFB131A_chr4_9439414_9455666	9446175	TCTTGAAA others(33): Show TCTTGAAATAAATTTTAAAATGTGCTCGGAGGTAATATGAG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	424	0.0024	-40	c.58+ others(55): Show c.58+1586_58+1625delTTGAAATAAATTTTAAAATGTGCTCGGAGG TAATATGAGC	DEFB131A	ENSG00000186146.2	transcript	ENST00000334879.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEPDC1B_chr5_60591912_60705166	60667973	ATATATAT others(33): Show ATATATATAAAATGGATATTATATATATAAAATGGATATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	292	0.0034	-40	c.314 others(59): Show c.314+18949_314+18988delAAATATCCATTTTATATATATAATAT CCATTTTATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DERA_chr12_15906332_16042381	15936876	TTGTCTTG others(33): Show TTGTCTTGTCTTGTCCTGTCCTGTCCTGTCCTGTCCTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	258	0.0039	-40	c.32- others(57): Show c.32-20055_32-20016delTTGTCTTGTCCTGTCCTGTCCTGTCCTG TCCTGTCCTGTC	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DGCR2_chr22_19031286_19127412	19084469	GGCCCCTT others(33): Show GGCCCCTTTGCCCGGGAGCCGCCCCGTCTGAGAAGTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0107 a0002c0002t0033g0107	1	344	0.0029	-40	c.202 others(57): Show c.202+4859_202+4898delTCCTCACTTCTCAGACGGGGCGGCTCCC GGGCAAAGGGGC	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19084529	GCCCCGTC others(33): Show GCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(85): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01993.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18990.hp1 NA18997.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19057.hp2 NA19060.hp1 NA19068.hp1 NA19079.hp1 NA19086.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0050 a0002c0002t0003 a0002c0002t0004 others(15): Show a0001c0001t0050 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0019 a0002c0002t0022 a0002c0002t0031 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0040 a0002c0002t0046 a0002c0002t0047	a0001c0001t0050g0334 a0002c0002t0003g0002 a0002c0002t0003g0003 others(81): Show a0001c0001t0050g0334 a0002c0002t0003g0002 a0002c0002t0003g0003 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0080 a0002c0002t0004g0083 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0096 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0101 a0002c0002t0004g0103 a0002c0002t0004g0108 a0002c0002t0004g0109 a0002c0002t0009g0005 a0002c0002t0009g0074 a0002c0002t0009g0084 a0002c0002t0009g0085 a0002c0002t0009g0086 a0002c0002t0009g0104 a0002c0002t0009g0105 a0002c0002t0009g0106 a0002c0002t0009g0126 a0002c0002t0011g0326 a0002c0002t0011g0327 a0002c0002t0011g0328 a0002c0002t0011g0329 a0002c0002t0011g0330 a0002c0002t0011g0331 a0002c0002t0011g0332 a0002c0002t0011g0333 a0002c0002t0013g0004 a0002c0002t0013g0077 a0002c0002t0013g0081 a0002c0002t0013g0082 a0002c0002t0013g0102 a0002c0002t0014g0039 a0002c0002t0014g0040 a0002c0002t0014g0041 a0002c0002t0014g0042 a0002c0002t0019g0087 a0002c0002t0019g0088 a0002c0002t0019g0100 a0002c0002t0022g0069 a0002c0002t0022g0071 a0002c0002t0031g0063 a0002c0002t0034g0047 a0002c0002t0035g0095 a0002c0002t0036g0056 a0002c0002t0037g0064 a0002c0002t0038g0061 a0002c0002t0040g0049 a0002c0002t0046g0324 a0002c0002t0047g0325	88	344	0.2558	-40	c.202 others(57): Show c.202+4799_202+4838delTGGCTGCCGGGCGGAGGGGCTCCTCACT TCTCAGACGGGG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGKB_chr7_14140049_14907751	14212388	TTTACTCT others(33): Show TTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG02071.hp1 others(1): Show HG00609.hp1 HG00621.hp2 HG02071.hp1 NA18993.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0007 a0004c0011 a0001c0001 a0002c0007 a0004c0011	a0001c0001t0002 a0001c0001t0007 a0002c0007t0006 others(1): Show a0001c0001t0002 a0001c0001t0007 a0002c0007t0006 a0004c0011t0002	a0001c0001t0002g0036 a0001c0001t0007g0121 a0002c0007t0006g0041 others(1): Show a0001c0001t0002g0036 a0001c0001t0007g0121 a0002c0007t0006g0041 a0004c0011t0002g0110	4	148	0.0270	-40	c.212 others(61): Show c.2123-34277_2123-34238delTCACAAAACACGAGAGTAAAATCA CAAAACATGAGAGTAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14641228	TTTTACAA others(33): Show TTTTACAATATAGGGATTTGGTTTACAATATAGGGATTTGG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02976.hp2 HG03942.hp2 others(1): Show HG02735.hp1 HG02976.hp2 HG03942.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017	a0001c0001t0023 a0001c0002t0002 a0001c0003t0018 others(1): Show a0001c0001t0023 a0001c0002t0002 a0001c0003t0018 a0001c0017t0024	a0001c0001t0023g0122 a0001c0002t0002g0074 a0001c0003t0018g0061 others(1): Show a0001c0001t0023g0122 a0001c0002t0002g0074 a0001c0003t0018g0061 a0001c0017t0024g0146	4	148	0.0270	-40	c.113 others(61): Show c.1135-11000_1135-10961delCCAAATCCCTATATTGTAAACCAA ATCCCTATATTGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	13/25			chr7	TogoVar
DGKH_chr13_42043648_42247896	42053570	ATATATGT others(33): Show ATATATGTATATATATAACTATATATATGTATATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01192.hp2 others(31): Show HG01099.hp2 HG01168.hp2 HG01192.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03654.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0001c0027	a0001c0001t0003 a0001c0001t0018 a0001c0001t0060 others(29): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0060 a0001c0001t0063 a0001c0001t0068 a0001c0001t0074 a0001c0001t0080 a0001c0001t0099 a0001c0002t0002 a0001c0002t0042 a0001c0002t0086 a0001c0002t0095 a0001c0003t0008 a0001c0003t0106 a0001c0003t0111 a0001c0004t0001 a0001c0004t0009 a0001c0004t0013 a0001c0004t0020 a0001c0004t0025 a0001c0004t0026 a0001c0004t0038 a0001c0004t0040 a0001c0004t0093 a0001c0004t0108 a0001c0004t0121 a0001c0004t0122 a0001c0006t0004 a0001c0008t0008 a0001c0008t0013 a0001c0013t0049 a0001c0027t0116	a0001c0001t0003g0024 a0001c0001t0018g0018 a0001c0001t0060g0020 others(31): Show a0001c0001t0003g0024 a0001c0001t0018g0018 a0001c0001t0060g0020 a0001c0001t0063g0059 a0001c0001t0068g0314 a0001c0001t0074g0208 a0001c0001t0080g0057 a0001c0001t0099g0315 a0001c0002t0002g0019 a0001c0002t0042g0021 a0001c0002t0086g0205 a0001c0002t0095g0060 a0001c0003t0008g0214 a0001c0003t0106g0058 a0001c0003t0111g0064 a0001c0004t0001g0008 a0001c0004t0009g0275 a0001c0004t0013g0209 a0001c0004t0013g0210 a0001c0004t0020g0276 a0001c0004t0025g0213 a0001c0004t0026g0023 a0001c0004t0026g0028 a0001c0004t0038g0035 a0001c0004t0040g0063 a0001c0004t0093g0212 a0001c0004t0108g0206 a0001c0004t0121g0312 a0001c0004t0122g0061 a0001c0006t0004g0062 a0001c0008t0008g0022 a0001c0008t0013g0207 a0001c0013t0049g0302 a0001c0027t0116g0211	34	316	0.1076	-40	c.192 others(57): Show c.192+4611_192+4650delGTATATATATAACTATATATATGTATAT ATATAACTATAT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(33): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03017.hp2 NA20129.hp2 HG01192.hp2 HG03017.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0013 a0002c0005t0001 a0001c0004t0013 a0002c0005t0001	a0001c0004t0013g0209 a0001c0004t0013g0210 a0002c0005t0001g0268 a0001c0004t0013g0209 a0001c0004t0013g0210 a0002c0005t0001g0268	3	316	0.0095	-40	c.260 others(59): Show c.2601+1012_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKQ_chr4_953887_978569	975880	ATCCCATC others(33): Show ATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0023 a0001c0002t0007g0023	1	438	0.0023	-40	c.-24 others(51): Show c.-2438_-2399delAGGCGGCGGGGAAGAGGCGCTCCTCGCTTCCTAG ATGGGA	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding		2312		chr4	TogoVar
DHRS12_chr13_51762993_51809163	51774592	TCTCCTAC others(33): Show TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02004.hp1 HG02896.hp1 HG01891.hp1 HG02004.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0044 a0002c0002t0003g0073 a0002c0002t0003g0209 a0002c0002t0003g0044 a0002c0002t0003g0073 a0002c0002t0003g0209	3	420	0.0071	-40	c.364 others(55): Show c.364-598_364-559delGAGAATACTGTAGAATACATGTAGGAGAAT ACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775692	TCTCCTAC others(33): Show TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02145.hp2 NA18906.hp2 HG01106.hp2 HG02145.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0072 a0002c0002t0003g0244 a0002c0002t0003g0249 a0002c0002t0003g0072 a0002c0002t0003g0244 a0002c0002t0003g0249	3	420	0.0071	-40	c.363 others(57): Show c.363+1328_363+1367delGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS9_chr2_169064563_169101167	169079975	GAGAGAGA others(33): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp1 HG03831.hp1 others(3): Show HG02132.hp1 HG02155.hp1 HG03831.hp1 NA18961.hp1 NA18986.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0164 others(1): Show a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0164 a0001c0002t0002g0264	6	398	0.0151	-40	c.-59 others(57): Show c.-59-1544_-59-1505delGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2265160	CCAGCAGA others(33): Show CCAGCAGACGCAGGGAGCACTGTCCCCAGAGCACCAGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	50	0.0200	-40	c.596 others(57): Show c.596+1540_596+1579delAGCACTGGTGCTCTGGGGACAGTGCTCC CTGCGTCTGCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHX15_chr4_24522475_24589554	24547877	CTCTCTCT others(33): Show CTCTCTCTCTCTCTATGTATGTATGTGTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19002.hp2 NA18971.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0207 a0001c0002t0001g0200 a0001c0002t0001g0207	2	374	0.0054	-40	c.124 others(57): Show c.1248+938_1248+977delTATATATATATATACACATACATACATA GAGAGAGAGAGA	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	6/13			chr4	TogoVar

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Search Results (Total: 3176 hits)