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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
DNMT3A_chr2_25222874_25346925	25300712	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp2 HG01516.hp2 others(6): Show HG01361.hp2 HG01515.hp2 HG01516.hp2 HG02257.hp1 HG02965.hp1 HG03041.hp2 HG03669.hp2 HG03704.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 a0001c0001t0038 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0139	a0001c0001t0001g0251 a0001c0001t0005g0070 a0001c0001t0020g0254 others(6): Show a0001c0001t0001g0251 a0001c0001t0005g0070 a0001c0001t0020g0254 a0001c0001t0038g0253 a0001c0001t0094g0212 a0001c0001t0096g0208 a0001c0001t0097g0210 a0001c0001t0098g0209 a0001c0001t0139g0221	9	294	0.0306	-32	c.73- others(45): Show c.73-501_73-470delATATATATATATATATATATATATATATATAT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	2/22			chr2	TogoVar
DNTTIP1_chr20_45786954_45816418	45800692	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	412	0.0024	-32	c.373 others(47): Show c.373-380_373-349delAATATATATATATATATATATATATATATA TA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800694	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	412	0.0024	-32	c.373 others(47): Show c.373-349_373-318delATATATATATATATATATATATATATATAT AT	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOC2B_chr17_137789_186650	170783	GAGCACCA others(25): Show GAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	339	0.0030	-32	c.453 others(49): Show c.453+1722_453+1753delGCCCTCTGCAGCCTGGCCCGGCCCCTGG TGCT	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	171500	AGAGCACC others(25): Show AGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0101 a0001c0002t0037g0101	1	339	0.0030	-32	c.453 others(49): Show c.453+1005_453+1036delCCCTCTGCAGCCTGGCCCGGCCCCTGGT GCTC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	171760	AGAGCACC others(25): Show AGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0251 a0001c0002t0035g0251	1	339	0.0030	-32	c.453 others(47): Show c.453+745_453+776delCCCTCTGCAGCCTGGCCCGGCCCCTGGTGC TC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	171858	AGAGCACC others(25): Show AGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02896.hp2 others(1): Show HG02559.hp1 HG02572.hp2 HG02896.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0007 a0001c0002t0003 a0001c0005t0007	a0001c0002t0003g0114 a0001c0002t0003g0116 a0001c0002t0003g0117 others(1): Show a0001c0002t0003g0114 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0005t0007g0113	4	339	0.0118	-32	c.453 others(47): Show c.453+647_453+678delCCCTCTGCAGCCTGGCCCGGCCCCTGGTGC TC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	171964	GGGCCGGG others(25): Show GGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00280.hp2 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0267 a0001c0002t0016g0268 a0001c0002t0016g0267 a0001c0002t0016g0268	2	339	0.0059	-32	c.453 others(47): Show c.453+541_453+572delGCTGGTGCTCCCCTCTGCAGCCTGGCCCGG CC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOCK10_chr2_224760090_225047468	225016622	CACATAGA others(25): Show CACATAGATACATATATCTATGTGCACATAGAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01884.hp1 HG02145.hp1 others(25): Show HG01257.hp2 HG01884.hp1 HG02145.hp1 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0009 a0011 a0013	a0001c0001 a0001c0004 a0002c0002 others(8): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0007 a0002c0009 a0002c0029 a0006c0014 a0009c0024 a0011c0028 a0013c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0004t0014 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0007t0003 a0002c0009t0003 a0002c0029t0007 a0006c0014t0010 a0009c0024t0007 a0011c0028t0001 a0013c0026t0008	a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0003g0093 others(25): Show a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0005g0011 a0001c0004t0014g0092 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0076 a0002c0002t0001g0168 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0002g0055 a0002c0007t0003g0073 a0002c0007t0003g0077 a0002c0009t0003g0066 a0002c0029t0007g0161 a0006c0014t0010g0070 a0006c0014t0010g0071 a0009c0024t0007g0069 a0011c0028t0001g0067 a0013c0026t0008g0089	28	172	0.1628	-32	c.123 others(51): Show c.123+25598_123+25629delATCTATGTGCACATAGATATATGTAT CTATGT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK1_chr10_126900428_127457516	127399545	AACCTGAG others(25): Show AACCTGAGGGTGAGTCTGAGAAGATATTTACTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01167.hp2 others(14): Show HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01884.hp2 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0004 a0001c0007 others(8): Show a0001c0001 a0001c0004 a0001c0007 a0001c0025 a0001c0063 a0002c0022 a0003c0003 a0003c0019 a0004c0020 a0005c0014 a0008c0057	a0001c0001t0002 a0001c0004t0002 a0001c0007t0001 others(9): Show a0001c0001t0002 a0001c0004t0002 a0001c0007t0001 a0001c0025t0002 a0001c0063t0001 a0002c0022t0007 a0003c0003t0003 a0003c0003t0004 a0003c0019t0003 a0004c0020t0003 a0005c0014t0004 a0008c0057t0002	a0001c0001t0002g0128 a0001c0004t0002g0120 a0001c0004t0002g0135 others(14): Show a0001c0001t0002g0128 a0001c0004t0002g0120 a0001c0004t0002g0135 a0001c0007t0001g0074 a0001c0025t0002g0025 a0001c0063t0001g0092 a0002c0022t0007g0002 a0003c0003t0003g0014 a0003c0003t0003g0037 a0003c0003t0003g0088 a0003c0003t0004g0005 a0003c0003t0004g0066 a0003c0003t0004g0108 a0003c0019t0003g0051 a0004c0020t0003g0023 a0005c0014t0004g0057 a0008c0057t0002g0126	17	136	0.1250	-32	c.392 others(51): Show c.3928-3508_3928-3477delCCTGAGGGTGAGTCTGAGAAGATATT TACTCA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK2_chr5_169632275_170088382	169664968	ATATCAGC others(25): Show ATATCAGCATATCTATATATGTTTATATATAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01346.hp1 others(40): Show HG00323.hp2 HG00558.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02155.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18947.hp1 NA18960.hp2 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0020 a0001c0021 a0001c0025 a0001c0042 a0001c0044 a0001c0052 a0001c0060 a0001c0063 a0001c0073 a0001c0082 a0001c0083 a0001c0084 a0004c0024 a0006c0057 a0009c0062 a0011c0081	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0003 a0001c0004t0004 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0008t0001 a0001c0008t0003 a0001c0009t0002 a0001c0011t0003 a0001c0013t0002 a0001c0014t0001 a0001c0014t0003 a0001c0015t0001 a0001c0020t0001 a0001c0021t0001 a0001c0025t0001 a0001c0042t0002 a0001c0044t0007 a0001c0052t0002 a0001c0060t0001 a0001c0063t0002 a0001c0073t0003 a0001c0082t0001 a0001c0083t0001 a0001c0084t0001 a0004c0024t0002 a0006c0057t0006 a0009c0062t0002 a0011c0081t0004	a0001c0001t0002g0102 a0001c0001t0003g0103 a0001c0001t0004g0080 others(40): Show a0001c0001t0002g0102 a0001c0001t0003g0103 a0001c0001t0004g0080 a0001c0002t0001g0025 a0001c0002t0002g0112 a0001c0002t0003g0014 a0001c0003t0001g0129 a0001c0003t0001g0144 a0001c0003t0002g0013 a0001c0003t0003g0018 a0001c0003t0003g0147 a0001c0004t0003g0100 a0001c0004t0004g0021 a0001c0005t0002g0016 a0001c0005t0002g0030 a0001c0005t0003g0071 a0001c0005t0004g0004 a0001c0007t0001g0075 a0001c0007t0003g0093 a0001c0008t0001g0065 a0001c0008t0003g0091 a0001c0009t0002g0019 a0001c0011t0003g0026 a0001c0013t0002g0001 a0001c0014t0001g0024 a0001c0014t0003g0015 a0001c0015t0001g0011 a0001c0020t0001g0017 a0001c0021t0001g0146 a0001c0025t0001g0022 a0001c0042t0002g0117 a0001c0044t0007g0182 a0001c0052t0002g0027 a0001c0060t0001g0090 a0001c0063t0002g0029 a0001c0073t0003g0094 a0001c0082t0001g0153 a0001c0083t0001g0154 a0001c0084t0001g0155 a0004c0024t0002g0138 a0006c0057t0006g0171 a0009c0062t0002g0148 a0011c0081t0004g0067	43	184	0.2337	-32	c.128 others(49): Show c.128-3956_128-3925delCTATATATGTTTATATATAAGTATCAGC ATAT	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	2/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK4_chr7_111721110_112211399	112066659	TTATACAT others(25): Show TTATACATATACATATACATATATACATATACA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	106	0.0094	-32	c.38- others(49): Show c.38-62560_38-62529delTGTATATGTATATATGTATATGTATATG TATA	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	112066670	CATATACA others(25): Show CATATACATATATACATATACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02965.hp2 others(1): Show HG01891.hp1 HG02280.hp2 HG02965.hp2 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0003c0007t0001	a0001c0002t0002g0015 a0001c0002t0005g0082 a0001c0002t0008g0060 others(1): Show a0001c0002t0002g0015 a0001c0002t0005g0082 a0001c0002t0008g0060 a0003c0007t0001g0071	4	106	0.0377	-32	c.38- others(49): Show c.38-62571_38-62540delATATATATATATGTATATGTATATATGT ATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	112066676	CATATATA others(25): Show CATATATACATATACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0069 a0002c0003t0002g0069	1	106	0.0094	-32	c.38- others(49): Show c.38-62577_38-62546delATATATATATATATATATGTATATGTAT ATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	112066690	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	106	0.0094	-32	c.38- others(49): Show c.38-62591_38-62560delATATATATATATATATATATATATATAT ATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOCK5_chr8_25179689_25420711	25210056	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATCTGTCTATTTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0054 a0001c0018t0054	a0001c0018t0054g0196 a0001c0018t0054g0196	1	210	0.0048	-32	c.43+ others(49): Show c.43+25107_43+25138delGTGTGTGTGTGTATCTGTCTATTTATCT ATCT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25210080	TTATCTAT others(25): Show TTATCTATCTATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0085 a0001c0005t0085	a0001c0005t0085g0004 a0001c0005t0085g0004	1	210	0.0048	-32	c.43+ others(49): Show c.43+25154_43+25185delTATCTATCTATCTATCTATCTATCTATC TATC	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216145	TATACAAT others(25): Show TATACAATATGTATATATGTATACAATATGTGC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02027.hp1 others(5): Show HG01168.hp1 HG01169.hp1 HG02027.hp1 HG02148.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0009 others(3): Show a0001c0002 a0001c0005 a0001c0009 a0001c0034 a0002c0006 a0002c0013	a0001c0002t0004 a0001c0005t0033 a0001c0005t0061 others(4): Show a0001c0002t0004 a0001c0005t0033 a0001c0005t0061 a0001c0009t0007 a0001c0034t0045 a0002c0006t0002 a0002c0013t0006	a0001c0002t0004g0109 a0001c0005t0033g0098 a0001c0005t0061g0111 others(5): Show a0001c0002t0004g0109 a0001c0005t0033g0098 a0001c0005t0061g0111 a0001c0009t0007g0142 a0001c0034t0045g0173 a0002c0006t0002g0110 a0002c0006t0002g0117 a0002c0013t0006g0133	8	210	0.0381	-32	c.44- others(49): Show c.44-27130_44-27099delTATGTATACAATATGTGCATACAATATG TATA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216544	TATGTATA others(25): Show TATGTATACAATATGTGCATACAATATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00733.hp1 others(29): Show HG00323.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01071.hp1 HG01167.hp1 HG01257.hp1 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02129.hp2 HG02155.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp2 HG03942.hp1 NA18612.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18988.hp1 NA18988.hp2 NA19068.hp1 NA19085.hp2 NA19090.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0001c0016 a0001c0027 a0001c0030 a0002c0006 a0002c0007 a0002c0010 a0002c0013 a0002c0017 a0002c0029 a0014c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 a0001c0001t0043 a0001c0003t0006 a0001c0005t0002 a0001c0005t0008 a0001c0008t0047 a0001c0011t0007 a0001c0012t0006 a0001c0016t0001 a0001c0016t0008 a0001c0027t0021 a0001c0030t0006 a0002c0006t0001 a0002c0006t0002 a0002c0007t0002 a0002c0007t0014 a0002c0010t0003 a0002c0010t0006 a0002c0013t0029 a0002c0013t0048 a0002c0017t0002 a0002c0017t0014 a0002c0017t0024 a0002c0029t0003 a0014c0045t0001	a0001c0001t0001g0155 a0001c0001t0002g0101 a0001c0001t0035g0156 others(29): Show a0001c0001t0001g0155 a0001c0001t0002g0101 a0001c0001t0035g0156 a0001c0001t0043g0201 a0001c0003t0006g0079 a0001c0005t0002g0066 a0001c0005t0008g0122 a0001c0008t0047g0195 a0001c0011t0007g0051 a0001c0012t0006g0134 a0001c0016t0001g0105 a0001c0016t0001g0107 a0001c0016t0008g0043 a0001c0027t0021g0188 a0001c0030t0006g0024 a0002c0006t0001g0114 a0002c0006t0002g0054 a0002c0006t0002g0072 a0002c0006t0002g0096 a0002c0006t0002g0115 a0002c0007t0002g0065 a0002c0007t0002g0210 a0002c0007t0014g0016 a0002c0010t0003g0113 a0002c0010t0006g0084 a0002c0013t0029g0120 a0002c0013t0048g0189 a0002c0017t0002g0141 a0002c0017t0014g0047 a0002c0017t0024g0132 a0002c0029t0003g0053 a0014c0045t0001g0055	32	210	0.1524	-32	c.44- others(49): Show c.44-27049_44-27018delCATACAATATGTATAGATGTATACAATA TGTG	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216625	CATACAAT others(25): Show CATACAATATGTATAGATGTATACAATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01168.hp1 others(11): Show HG00438.hp1 HG00558.hp1 HG01168.hp1 HG01169.hp1 HG01981.hp1 HG02027.hp1 HG02148.hp2 HG02293.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 NA18950.hp1 NA18952.hp2 NA19011.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0018 a0002c0006 a0002c0013 a0005c0037 a0008c0024	a0001c0001t0037 a0001c0002t0004 a0001c0003t0019 others(10): Show a0001c0001t0037 a0001c0002t0004 a0001c0003t0019 a0001c0003t0075 a0001c0004t0019 a0001c0004t0032 a0001c0005t0033 a0001c0005t0061 a0001c0018t0009 a0002c0006t0002 a0002c0013t0006 a0005c0037t0071 a0008c0024t0034	a0001c0001t0037g0136 a0001c0002t0004g0109 a0001c0003t0019g0140 others(11): Show a0001c0001t0037g0136 a0001c0002t0004g0109 a0001c0003t0019g0140 a0001c0003t0075g0071 a0001c0004t0019g0139 a0001c0004t0032g0032 a0001c0005t0033g0098 a0001c0005t0061g0111 a0001c0018t0009g0192 a0002c0006t0002g0110 a0002c0006t0002g0117 a0002c0013t0006g0133 a0005c0037t0071g0137 a0008c0024t0034g0033	14	210	0.0667	-32	c.44- others(49): Show c.44-26659_44-26628delATATGTATAGATGTATACAATATGTGTA TACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK7_chr1_62449726_62693386	62689175	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA19058.hp2 NA19080.hp2 others(1): Show NA18949.hp1 NA19058.hp2 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119	4	228	0.0175	-32	c.-94 others(41): Show c.-943_-912delATATATATATATATATATATATATATATGTAT	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding		790		chr1	TogoVar
DOCK8_chr9_209865_470255	470223	AGGTAGGG others(25): Show AGGTAGGGGCGTGGGGGAGTTACTGAGCATGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(69): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG03195.hp1 HG03490.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18961.hp2 NA18964.hp1 NA18986.hp2 NA18990.hp1 NA18997.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19060.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19090.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0020 a0023 a0024 a0031 a0041 a0050 a0051 a0052 a0054 a0056	a0001c0002 a0001c0003 a0001c0051 others(34): Show a0001c0002 a0001c0003 a0001c0051 a0001c0054 a0001c0061 a0001c0072 a0002c0005 a0002c0102 a0002c0111 a0002c0112 a0003c0001 a0003c0004 a0003c0133 a0003c0138 a0004c0019 a0004c0041 a0004c0043 a0005c0013 a0006c0010 a0006c0025 a0006c0026 a0007c0009 a0008c0022 a0008c0119 a0009c0017 a0011c0157 a0013c0080 a0020c0070 a0023c0142 a0024c0124 a0031c0121 a0041c0053 a0050c0149 a0051c0129 a0052c0136 a0054c0137 a0056c0140	a0001c0002t0001 a0001c0003t0001 a0001c0051t0004 others(36): Show a0001c0002t0001 a0001c0003t0001 a0001c0051t0004 a0001c0054t0001 a0001c0061t0001 a0001c0072t0004 a0002c0005t0001 a0002c0102t0001 a0002c0111t0010 a0002c0112t0001 a0003c0001t0001 a0003c0001t0009 a0003c0001t0016 a0003c0004t0001 a0003c0133t0001 a0003c0138t0001 a0004c0019t0001 a0004c0041t0001 a0004c0043t0001 a0005c0013t0001 a0006c0010t0001 a0006c0025t0001 a0006c0026t0001 a0007c0009t0001 a0008c0022t0001 a0008c0119t0001 a0009c0017t0003 a0011c0157t0001 a0013c0080t0001 a0020c0070t0001 a0023c0142t0001 a0024c0124t0001 a0031c0121t0009 a0041c0053t0001 a0050c0149t0010 a0051c0129t0004 a0052c0136t0001 a0054c0137t0001 a0056c0140t0004	a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0003t0001g0044 others(69): Show a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0003t0001g0044 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0110 a0001c0003t0001g0119 a0001c0051t0004g0059 a0001c0054t0001g0214 a0001c0061t0001g0080 a0001c0072t0004g0239 a0002c0005t0001g0096 a0002c0005t0001g0109 a0002c0005t0001g0191 a0002c0005t0001g0196 a0002c0102t0001g0204 a0002c0111t0010g0248 a0002c0112t0001g0224 a0003c0001t0001g0048 a0003c0001t0001g0130 a0003c0001t0001g0132 a0003c0001t0001g0135 a0003c0001t0001g0138 a0003c0001t0001g0147 a0003c0001t0001g0148 a0003c0001t0001g0149 a0003c0001t0001g0151 a0003c0001t0001g0152 a0003c0001t0001g0153 a0003c0001t0001g0154 a0003c0001t0001g0158 a0003c0001t0009g0167 a0003c0001t0016g0157 a0003c0004t0001g0136 a0003c0004t0001g0141 a0003c0004t0001g0146 a0003c0004t0001g0156 a0003c0133t0001g0142 a0003c0138t0001g0143 a0004c0019t0001g0091 a0004c0019t0001g0092 a0004c0041t0001g0246 a0004c0043t0001g0245 a0005c0013t0001g0188 a0005c0013t0001g0190 a0006c0010t0001g0183 a0006c0010t0001g0185 a0006c0010t0001g0187 a0006c0025t0001g0186 a0006c0026t0001g0184 a0007c0009t0001g0078 a0008c0022t0001g0201 a0008c0119t0001g0213 a0009c0017t0003g0020 a0009c0017t0003g0212 a0011c0157t0001g0150 a0013c0080t0001g0061 a0020c0070t0001g0209 a0023c0142t0001g0168 a0024c0124t0001g0205 a0031c0121t0009g0200 a0041c0053t0001g0101 a0050c0149t0010g0071 a0051c0129t0004g0144 a0052c0136t0001g0155 a0054c0137t0001g0139 a0056c0140t0004g0064	72	256	0.2813	-32	c.60 others(43): Show c.6005_*6036delGGTAGGGGCGTGGGGGAGTTACTGAGCATGCG	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding		4969		chr9	TogoVar
DOK6_chr18_69395888_69854087	69416161	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02615.hp1 others(2): Show HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0036 a0001c0001t0087 a0001c0003t0021 others(2): Show a0001c0001t0036 a0001c0001t0087 a0001c0003t0021 a0001c0003t0030 a0001c0003t0073	a0001c0001t0036g0042 a0001c0001t0087g0056 a0001c0003t0021g0054 others(2): Show a0001c0001t0036g0042 a0001c0001t0087g0056 a0001c0003t0021g0054 a0001c0003t0030g0053 a0001c0003t0073g0055	5	170	0.0294	-32	c.66+ others(49): Show c.66+14883_66+14914delCGAAGGAAGGAAGGAAGGAACGAAGGAA GGAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69442719	CATGTTGC others(25): Show CATGTTGCTTATTGTCTTATACTATACTTATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02615.hp1 others(3): Show HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0024 a0001c0001t0036 a0001c0001t0087 others(3): Show a0001c0001t0024 a0001c0001t0036 a0001c0001t0087 a0001c0003t0021 a0001c0003t0030 a0001c0003t0073	a0001c0001t0024g0038 a0001c0001t0036g0042 a0001c0001t0087g0056 others(3): Show a0001c0001t0024g0038 a0001c0001t0036g0042 a0001c0001t0087g0056 a0001c0003t0021g0054 a0001c0003t0030g0053 a0001c0003t0073g0055	6	170	0.0353	-32	c.66+ others(49): Show c.66+41459_66+41490delATACTATACTTATATATGTTGCTTATTG TCTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69606273	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(44): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02055.hp2 HG02451.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp1 NA18960.hp2 NA18968.hp1 NA18983.hp1 NA19005.hp2 NA19043.hp2 NA19079.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(36): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0062 a0001c0001t0064 a0001c0001t0068 a0001c0001t0075 a0001c0001t0078 a0001c0001t0088 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0037 a0001c0002t0047 a0001c0002t0051 a0001c0002t0053 a0001c0002t0081 a0001c0002t0098 a0001c0002t0103 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010 a0001c0003t0016 a0001c0003t0070 a0001c0003t0090 a0003c0006t0050	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 others(44): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0005g0133 a0001c0001t0006g0166 a0001c0001t0011g0147 a0001c0001t0012g0144 a0001c0001t0013g0069 a0001c0001t0013g0110 a0001c0001t0015g0034 a0001c0001t0018g0088 a0001c0001t0020g0032 a0001c0001t0035g0136 a0001c0001t0036g0042 a0001c0001t0062g0035 a0001c0001t0064g0096 a0001c0001t0068g0001 a0001c0001t0075g0011 a0001c0001t0078g0130 a0001c0001t0088g0033 a0001c0002t0001g0005 a0001c0002t0001g0134 a0001c0002t0002g0106 a0001c0002t0003g0122 a0001c0002t0003g0155 a0001c0002t0004g0045 a0001c0002t0006g0102 a0001c0002t0006g0141 a0001c0002t0007g0158 a0001c0002t0008g0114 a0001c0002t0012g0052 a0001c0002t0037g0007 a0001c0002t0047g0105 a0001c0002t0051g0080 a0001c0002t0053g0063 a0001c0002t0081g0163 a0001c0002t0098g0086 a0001c0002t0103g0161 a0001c0003t0003g0108 a0001c0003t0003g0165 a0001c0003t0005g0112 a0001c0003t0010g0066 a0001c0003t0016g0123 a0001c0003t0070g0120 a0001c0003t0090g0027 a0003c0006t0050g0135	47	170	0.2765	-32	c.289 others(49): Show c.289+6799_289+6830delTAAATAAATAAATAAATAAATAAATAAA TAAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69811524	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0142 a0001c0002t0007g0142	1	170	0.0059	-32	c.857 others(51): Show c.857-29698_857-29667delATATATATATATATATATATATATAT ATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69811547	TATATATA others(25): Show TATATATATATATATATATATATATATATATCA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0073 a0001c0001t0072g0073	1	170	0.0059	-32	c.857 others(51): Show c.857-29695_857-29664delTATATATATATATATATATATATATA TATCAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK7_chr4_3458306_3499482	3483464	CACTGATG others(25): Show CACTGATGTCAGCTCTGCTGGCATGGATGATGG	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	404	0.0025	-32	c.533 others(49): Show c.533-2074_533-2043delACTGATGTCAGCTCTGCTGGCATGGATG ATGG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	4/6			chr4	TogoVar
DOK7_chr4_3458306_3499482	3490364	TTCCTTCC others(25): Show TTCCTTCCTTCCCCCCACCCCCTGCTCATTCAG	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0327 a0003c0003t0004g0327	1	404	0.0025	-32	c.772 others(47): Show c.772+575_772+606delCTTCCCCCCACCCCCTGCTCATTCAGTCCT TC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33577603	CTACACAC others(25): Show CTACACACACACACACACACACACACACACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0168 a0001c0001t0083g0168	1	426	0.0024	-32	c.67 others(41): Show c.672_*703delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	672		chr21	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01978.hp1 others(16): Show HG00639.hp2 HG00642.hp1 HG01978.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02738.hp1 HG03579.hp2 HG04204.hp2 NA18953.hp1 NA18954.hp2 NA18966.hp2 NA18990.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0001t0033 a0001c0001t0052 others(3): Show a0001c0001t0007 a0001c0001t0033 a0001c0001t0052 a0001c0001t0059 a0001c0001t0138 a0001c0006t0007	a0001c0001t0007g0036 a0001c0001t0007g0145 a0001c0001t0007g0209 others(15): Show a0001c0001t0007g0036 a0001c0001t0007g0145 a0001c0001t0007g0209 a0001c0001t0007g0258 a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0007g0293 a0001c0001t0007g0348 a0001c0001t0007g0365 a0001c0001t0033g0012 a0001c0001t0033g0033 a0001c0001t0033g0049 a0001c0001t0052g0174 a0001c0001t0052g0187 a0001c0001t0059g0322 a0001c0001t0059g0333 a0001c0001t0138g0074 a0001c0006t0007g0391	19	426	0.0446	-32	c.67 others(41): Show c.671_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	671		chr21	TogoVar
DOP1A_chr6_83062671_83173471	83163890	GTAAAATA others(25): Show GTAAAATATTGTCTTATATACTTTTTATCTTTC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0239 a0003c0003t0001g0239	1	298	0.0034	-32	c.709 others(50): Show c.7092+972_7092+1003delTAAAATATTGTCTTATATACTTTTTAT CTTTC	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	38/38			chr6	TogoVar
DOP1B_chr21_36151824_36299274	36271246	GTCACCCA others(25): Show GTCACCCAGGTTGGAGTTCACCCAGGTTGGAGT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0043 a0001c0044t0002g0043	1	292	0.0034	-32	c.563 others(51): Show c.5632+1138_5632+1169delTCACCCAGGTTGGAGTTCACCCAGGT TGGAGT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP2NB_chr16_68008436_68020911	68010049	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01192.hp2 others(1): Show HG00738.hp2 HG00741.hp2 HG01192.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0002 a0001c0001t0002g0004	4	362	0.0111	-32	c.40 others(43): Show c.4027_*4058delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		3386		chr16	TogoVar
DPF1_chr19_38206006_38229222	38227005	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03453.hp2 HG01884.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0005 a0001c0001t0001g0018	2	434	0.0046	-32	c.-28 others(43): Show c.-2895_-2864delAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	DPF1	ENSG00000011332.22	transcript	ENST00000355526.10	protein_coding		2784		chr19	TogoVar
DPF3_chr14_72604034_72899101	72892942	TGGAAGGA others(25): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01243.hp2 others(12): Show HG00609.hp1 HG00735.hp1 HG01243.hp2 HG02056.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02486.hp2 HG02735.hp2 NA18747.hp1 NA18998.hp1 NA19063.hp1 NA19063.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0027 a0001c0001t0057 a0001c0001t0059 a0001c0001t0089 a0001c0002t0017 a0001c0002t0018 a0001c0002t0081	a0001c0001t0001g0083 a0001c0001t0001g0223 a0001c0001t0003g0218 others(12): Show a0001c0001t0001g0083 a0001c0001t0001g0223 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0006g0231 a0001c0001t0007g0082 a0001c0001t0016g0085 a0001c0001t0019g0002 a0001c0001t0027g0222 a0001c0001t0057g0219 a0001c0001t0059g0081 a0001c0001t0089g0084 a0001c0002t0017g0217 a0001c0002t0018g0221 a0001c0002t0081g0224	15	234	0.0641	-32	c.32+ others(47): Show c.32+1083_32+1114delTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH6_chr15_35365880_35551165	35436472	AACAAACA others(25): Show AACAAACAAAAACAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02280.hp2 others(9): Show HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0003g0054 a0001c0005t0001g0093	12	228	0.0526	-32	c.505 others(51): Show c.505+14181_505+14212delGTTTTGTTTTGTTTTGTTTTGTTTTT GTTTGT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	5/8			chr15	TogoVar
DPH7_chr9_137549444_137583925	137565279	CTCTGTCT others(25): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02615.hp1 others(2): Show HG01261.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0176	5	340	0.0147	-32	c.641 others(47): Show c.641-157_641-126delCAGTCACCCAGGGGAGCTTCCTCACAGACA GA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565337	CTGTCTGT others(25): Show CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	340	0.0029	-32	c.641 others(47): Show c.641-215_641-184delCAGAGTCACCCAGGGGAGCTTCCTCACAGA CA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565510	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp1 others(3): Show HG00323.hp1 HG01069.hp1 HG01071.hp1 HG02922.hp2 HG03688.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0002g0273 a0001c0001t0002g0294 others(2): Show a0001c0001t0001g0013 a0001c0001t0002g0273 a0001c0001t0002g0294 a0001c0001t0002g0298 a0002c0002t0001g0238	6	340	0.0177	-32	c.641 others(47): Show c.641-388_641-357delAGTCACCCAGGGGAGCTTCCTCACAGACAG AG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565540	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	340	0.0029	-32	c.641 others(47): Show c.641-418_641-387delAGTCACCCAGGGGAGCTTCCTCACAGACAG AG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565630	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0254 a0001c0001t0002g0255	2	340	0.0059	-32	c.641 others(47): Show c.641-508_641-477delAGTCACCCAGGGGAGCTTCCTCACAGACAG AG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565690	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	340	0.0029	-32	c.641 others(47): Show c.641-568_641-537delAGTCACCCAGGGGAGCTTCCTCACAGACAG AG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565869	CTGTCTGT others(25): Show CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	340	0.0029	-32	c.641 others(47): Show c.641-747_641-716delCAGAGTCACCCAGGGGAGCTTCCTCACAGA CA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566073	CTGTCTGT others(25): Show CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 HG02451.hp2 others(4): Show HG01123.hp2 HG01361.hp2 HG02451.hp2 HG02976.hp2 HG03041.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0064 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146	7	340	0.0206	-32	c.641 others(47): Show c.641-951_641-920delCAGAGTCACCCAGGGGAGCTTCCTCACAGA CA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566188	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	340	0.0029	-32	c.641 others(49): Show c.641-1066_641-1035delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566219	CTCTGTCT others(25): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02109.hp2 HG02148.hp1 others(5): Show HG01361.hp1 HG02109.hp2 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG03831.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0110 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0187	8	340	0.0235	-32	c.641 others(49): Show c.641-1097_641-1066delCAGTCACCCCGGGGAGCTTCCTCACAGA CAGA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566422	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0238 a0002c0002t0001g0233 a0002c0002t0001g0238	2	340	0.0059	-32	c.641 others(49): Show c.641-1300_641-1269delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566602	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG01891.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0160 a0001c0001t0001g0067 a0001c0001t0001g0160	2	340	0.0059	-32	c.641 others(49): Show c.641-1480_641-1449delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566662	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG03130.hp1 others(3): Show HG00558.hp1 HG00597.hp1 HG03130.hp1 NA18947.hp2 NA18985.hp1 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0197 a0003c0003t0001g0025	6	340	0.0177	-32	c.641 others(49): Show c.641-1540_641-1509delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 5012 hits)