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.

⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADRA1A_chr8_26763809_26872278	26797987	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02723.hp2 others(4): Show HG02258.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0325 a0001c0001t0001g0358 a0001c0001t0001g0364 others(4): Show a0001c0001t0001g0325 a0001c0001t0001g0358 a0001c0001t0001g0364 a0001c0001t0004g0022 a0001c0001t0011g0354 a0001c0001t0014g0346 a0002c0002t0001g0203	7	388	0.0180	16	c.884 others(35): Show c.884-27322_884-27321insAAAAAAAAAAAAAAAA		ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2						chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26850025	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp1 NA18978.hp1 others(3): Show HG02258.hp1 HG03139.hp1 NA18978.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0002c0002t0007	a0001c0001t0002g0268 a0001c0001t0004g0039 a0001c0001t0005g0267 others(3): Show a0001c0001t0002g0268 a0001c0001t0004g0039 a0001c0001t0005g0267 a0001c0001t0006g0044 a0001c0001t0024g0349 a0002c0002t0007g0239	6	388	0.0155	16	c.883 others(35): Show c.883+14061_883+14062insTGTTTTTTTTTTTTTT		ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2						chr8	TogoVar
ADRA1B_chr5_159911482_159978012	159927381	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01243.hp1 others(30): Show HG00673.hp1 HG00738.hp1 HG01243.hp1 HG01891.hp2 HG01975.hp2 HG01978.hp2 HG02080.hp2 HG02109.hp2 HG02273.hp2 HG02723.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA18971.hp1 NA18980.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18993.hp2 NA19057.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0003c0005t0011	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0002t0001g0010 a0001c0002t0001g0064 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0143 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0003g0093 a0001c0002t0003g0313 a0003c0005t0011g0040	33	384	0.0859	16	c.949 others(33): Show c.949+9545_949+9560dupACACACACACACACAC		ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159939322	T T	TGTGCGCG others(9): Show TGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0351 a0001c0001t0002g0351	1	384	0.0026	16	c.949 others(35): Show c.949+21469_949+21470insTGCGCGCGCGCGCGCG		ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159963288	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01109.hp1 others(6): Show HG00140.hp1 HG00438.hp1 HG01109.hp1 HG01261.hp1 HG01891.hp2 HG02083.hp1 HG03041.hp1 NA18980.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0242 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0299 a0001c0001t0002g0346 a0001c0001t0006g0348	9	384	0.0234	16	c.950 others(33): Show c.950-8585_950-8570dupATATATATATATATAT		ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCCTCC others(9): Show CTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0380 a0002c0002t0005g0380	1	452	0.0022	16	c.111 others(35): Show c.1112-5575_1112-5574insAGGAAGGAGGGAGGGA		ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1						chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCCTCC others(9): Show CTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0345 a0001c0001t0007g0345	1	452	0.0022	16	c.111 others(35): Show c.1112-5575_1112-5574insAGGAAGGAAGGAGGGA		ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1						chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4231064	T T	TTCTTTCT others(9): Show TTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0380 a0002c0002t0005g0380	1	452	0.0022	16	c.111 others(35): Show c.1112-8935_1112-8934insGAGAAAGAAAGAAAGA		ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1						chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4237836	G G	GTATTTAT others(9): Show GTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00621.hp1 others(67): Show HG00323.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18972.hp1 NA18984.hp1 NA18989.hp2 NA19060.hp2 NA19062.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19086.hp2 NA19089.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0006c0010 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0004 a0006c0010t0001 a0008c0007t0001	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 others(62): Show a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0239 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0004g0005 a0001c0001t0004g0033 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0348 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0356 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0005g0355 a0001c0001t0005g0368 a0001c0001t0006g0031 a0001c0001t0006g0337 a0001c0001t0014g0149 a0001c0001t0016g0168 a0001c0001t0017g0151 a0001c0003t0001g0006 a0001c0003t0001g0040 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0066 a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0069 a0002c0002t0001g0315 a0002c0002t0004g0376 a0002c0002t0004g0377 a0006c0010t0001g0259 a0008c0007t0001g0034	70	452	0.1549	16	c.111 others(36): Show c.1111+9995_1111+10010dupAATAAATAAATAAATA		ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1						chr20	TogoVar
ADRB2_chr5_148821611_148833623	148822000	A A	AAAAGATA others(9): Show AAAAGATAGGGGAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0000 a0002c0001t0001g0000	1	454	0.0022	16	c.-48 others(27): Show c.-4832_-4831insAAAGATAGGGGAGAAG		ADRB2	ENSG00000169252.6	transcript	ENST00000305988.6	protein_coding					4610		chr5	TogoVar
ADRM1_chr20_62297997_62313862	62313790	A A	AACGGGAG others(9): Show AACGGGAGGCATGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	368	0.0027	16	c.50 others(27): Show c.5029_*5030insACGGGAGGCATGTGGC		ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding					4929		chr20	TogoVar
ADSS1_chr14_104719229_104752310	104736881	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 NA18939.hp2 others(1): Show HG02451.hp1 HG03486.hp2 NA18939.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0008 a0001c0001t0002 a0001c0003t0001 a0001c0003t0008	a0001c0001t0002g0096 a0001c0001t0002g0118 a0001c0003t0001g0082 others(1): Show a0001c0001t0002g0096 a0001c0001t0002g0118 a0001c0003t0001g0082 a0001c0003t0008g0255	4	402	0.0100	16	c.296 others(33): Show c.296-1478_296-1463dupATATATATATATATAT		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADSS2_chr1_244403494_244456909	244435194	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG03540.hp1 HG01496.hp1 HG02647.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0067 a0001c0001t0002g0026 a0001c0001t0002g0067	3	408	0.0074	16	c.355 others(33): Show c.355+1630_355+1631insGTTTTTTTTTTTTTTT		ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	3/12						chr1	TogoVar
ADSS2_chr1_244403494_244456909	244435194	A A	AAAAAAAA others(9): Show AAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	408	0.0025	16	c.355 others(33): Show c.355+1630_355+1631insGTTTGTTTTTTTTTTT		ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	3/12						chr1	TogoVar
ADSS2_chr1_244403494_244456909	244444514	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	408	0.0025	16	c.184 others(33): Show c.184-6762_184-6747dupTTTTTTTTTTTTTTTT		ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12						chr1	TogoVar
ADTRP_chr6_11708523_11783803	11774311	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00639.hp1 others(79): Show HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02040.hp1 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19082.hp1 NA19086.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0006t0001 a0002c0002t0003 a0002c0002t0011	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0023 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0385 a0001c0001t0001g0390 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0162 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0237 a0001c0001t0002g0269 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0001t0004g0013 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0383 a0001c0001t0004g0388 a0001c0001t0004g0389 a0001c0001t0004g0391 a0001c0001t0004g0393 a0001c0001t0004g0395 a0001c0001t0005g0046 a0001c0001t0005g0101 a0001c0001t0007g0203 a0001c0001t0010g0025 a0001c0006t0001g0043 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0090 a0002c0002t0003g0158 a0002c0002t0003g0176 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0011g0045	82	410	0.2000	16	c.153 others(33): Show c.153+4280_153+4295dupATTTATTTATTTATTT		ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	1/5						chr6	TogoVar
ADTRP_chr6_11708523_11783803	11779949	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02523.hp1 HG02723.hp2 others(8): Show HG02280.hp1 HG02523.hp1 HG02723.hp2 HG03471.hp2 HG03579.hp1 HG04199.hp1 NA18941.hp2 NA18944.hp1 NA18969.hp1 NA18985.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0102 a0001c0001t0001g0169 a0001c0001t0001g0362 others(8): Show a0001c0001t0001g0102 a0001c0001t0001g0169 a0001c0001t0001g0362 a0001c0001t0001g0390 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0376 a0001c0001t0002g0394 a0002c0002t0003g0152 a0002c0002t0003g0168	11	410	0.0268	16	c.-12 others(27): Show c.-1206_-1191dupAAAAAAAAAAAAAAAA		ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding					1147		chr6	TogoVar
AEBP1_chr7_44099345_44119560	44113703	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0043 a0014c0016t0001g0043	1	426	0.0024	16	c.292 others(25): Show c.2923_2924insGGGGGGGGGGGGGGGG	p.Ala others(5): Show p.Ala975fs	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	21/21	3245/4097	2924/3477	975/1158		INFO_REALIGN_3_PRIME	chr7	TogoVar
AEBP2_chr12_19434492_19527227	19468126	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01099.hp2 others(40): Show HG00558.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 NA18612.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027	a0001c0001t0003g0329 a0001c0001t0003g0353 a0001c0001t0003g0354 others(40): Show a0001c0001t0003g0329 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0359 a0001c0001t0003g0370 a0001c0001t0003g0375 a0001c0001t0003g0379 a0001c0001t0003g0380 a0001c0001t0003g0390 a0001c0001t0003g0398 a0001c0001t0003g0399 a0001c0001t0004g0004 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0280 a0001c0001t0004g0285 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0008g0351 a0001c0001t0008g0360 a0001c0001t0008g0382 a0001c0001t0011g0293 a0001c0001t0011g0295 a0001c0001t0011g0299 a0001c0001t0015g0231 a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0017g0043 a0001c0001t0017g0044 a0001c0001t0019g0034 a0001c0001t0019g0040 a0001c0001t0024g0232 a0001c0001t0025g0288 a0001c0001t0027g0352	43	404	0.1064	16	c.880 others(33): Show c.880-5106_880-5091dupGTGTGTGTGTGTGTGT		AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
AEBP2_chr12_19434492_19527227	19473376	A A	AATTTATT others(9): Show AATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0203 a0001c0001t0037g0203	1	404	0.0025	16	c.987 others(29): Show c.987+52_987+67dupTTATTTATTTATTTAT		AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
AFAP1L1_chr5_149266859_149348637	149305878	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18965.hp2 NA18969.hp2 others(2): Show HG02572.hp2 NA18965.hp2 NA18969.hp2 NA18986.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0196 a0001c0001t0003g0016 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0196 a0001c0001t0003g0016 a0001c0001t0004g0064	5	286	0.0175	16	c.437 others(31): Show c.437-400_437-385dupACACACACACACACAC		AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149307818	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG01175.hp1 others(17): Show HG00438.hp1 HG01081.hp2 HG01175.hp1 HG01192.hp2 HG01891.hp2 HG02258.hp1 HG02683.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp1 HG04199.hp1 HG06807.hp2 NA18939.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0006 a0001c0001 a0003c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0003c0005t0002 a0005c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0082 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0001g0181 a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0109 a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0009g0031 a0001c0001t0016g0139 a0003c0005t0002g0268 a0005c0006t0001g0156	20	286	0.0699	16	c.747 others(31): Show c.747+229_747+244dupCTCTCTCTCTCTCTCT		AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149307818	T T	TTCTCTCT others(9): Show TTCTCTCTCTGTCTCTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	286	0.0035	16	c.747 others(31): Show c.747+214_747+215insGTCTCTCTCTCTCTCT		AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114327137	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0261 a0001c0003t0002g0261	1	262	0.0038	16	c.316 others(33): Show c.316-3877_316-3876insTATATATATATATATA		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18						chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01952.hp1 NA18950.hp2 HG00735.hp1 HG01952.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0008g0063 a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0008g0063	3	262	0.0115	16	c.316 others(33): Show c.316-3902_316-3887dupTATATATATATATATA		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18						chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360485	C C	CTAGATAG others(9): Show CTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0045 a0001c0003t0002g0045	1	262	0.0038	16	c.17- others(33): Show c.17-19770_17-19755dupTCTATCTATCTATCTA		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18						chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360497	A A	ATAGATAG others(9): Show ATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	262	0.0038	16	c.17- others(33): Show c.17-19767_17-19766insACTATCTATCTATCTA		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18						chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360501	A A	ATAGATAG others(9): Show ATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01952.hp2 HG02273.hp1 others(4): Show HG00639.hp2 HG01952.hp2 HG02273.hp1 HG03654.hp1 HG03831.hp2 NA19056.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0030	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0001 a0001c0030t0002	a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0001g0192 a0001c0002t0002g0099 a0001c0002t0005g0231 a0001c0004t0001g0133 a0001c0030t0002g0100	7	262	0.0267	16	c.17- others(33): Show c.17-19771_17-19770insACTATCTATCTATCTA		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18						chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360513	A A	ATAGATAG others(9): Show ATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02647.hp2 HG03225.hp1 others(2): Show HG00408.hp1 HG02647.hp2 HG03225.hp1 HG03831.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0004t0008 a0002c0005t0003 a0001c0001t0001 a0001c0004t0008 a0002c0005t0003	a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0004t0008g0056 a0002c0005t0003g0023	5	262	0.0191	16	c.17- others(33): Show c.17-19783_17-19782insACTATCTATCTATCTA		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18						chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360517	A A	ATAGATAG others(9): Show ATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18993.hp1 NA18970.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0095 a0001c0002t0002g0204 a0001c0001t0004g0095 a0001c0002t0002g0204	2	262	0.0076	16	c.17- others(33): Show c.17-19787_17-19786insACTATCTATCTATCTA		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18						chr10	TogoVar
AFAP1_chr4_7753714_7944861	7827569	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp2 HG01516.hp1 others(7): Show HG00408.hp1 HG01358.hp2 HG01516.hp1 HG02055.hp2 HG02615.hp2 HG02965.hp2 HG03130.hp1 NA18950.hp2 NA18956.hp2 NA18966.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0001c0036 a0002c0005 others(1): Show a0001c0015 a0001c0036 a0002c0005 a0003c0006	a0001c0015t0006 a0001c0036t0060 a0002c0005t0004 others(2): Show a0001c0015t0006 a0001c0036t0060 a0002c0005t0004 a0002c0005t0033 a0003c0006t0005	a0001c0015t0006g0139 a0001c0036t0060g0136 a0002c0005t0004g0307 others(7): Show a0001c0015t0006g0139 a0001c0036t0060g0136 a0002c0005t0004g0307 a0002c0005t0004g0308 a0002c0005t0033g0011 a0003c0006t0005g0095 a0003c0006t0005g0096 a0003c0006t0005g0097 a0003c0006t0005g0145 a0003c0006t0005g0249	10	318	0.0315	16	c.727 others(33): Show c.727-8414_727-8399dupTTTTTTTTTTTTTTTT		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7834092	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 NA18963.hp2 others(1): Show HG00423.hp2 HG01106.hp2 NA18963.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0014 a0002c0008t0054 a0001c0001t0014 a0002c0008t0054	a0001c0001t0014g0049 a0001c0001t0014g0056 a0001c0001t0014g0065 others(1): Show a0001c0001t0014g0049 a0001c0001t0014g0056 a0001c0001t0014g0065 a0002c0008t0054g0148	4	318	0.0126	16	c.726 others(33): Show c.726+4416_726+4431dupGTGTGTGTGTGTGTGT		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7834128	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01934.hp2 others(13): Show HG00140.hp2 HG00735.hp1 HG01934.hp2 HG02015.hp1 HG02071.hp2 HG02145.hp1 HG02615.hp2 HG02818.hp2 HG03516.hp1 HG03579.hp2 HG04184.hp1 NA18939.hp1 NA18944.hp2 NA19007.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0023 a0001c0044 a0002c0005 a0002c0008	a0001c0001t0070 a0001c0002t0032 a0001c0004t0006 others(10): Show a0001c0001t0070 a0001c0002t0032 a0001c0004t0006 a0001c0007t0006 a0001c0007t0036 a0001c0007t0067 a0001c0023t0001 a0001c0044t0032 a0002c0005t0004 a0002c0005t0033 a0002c0005t0064 a0002c0008t0004 a0002c0008t0031	a0001c0001t0070g0312 a0001c0002t0032g0252 a0001c0004t0006g0014 others(13): Show a0001c0001t0070g0312 a0001c0002t0032g0252 a0001c0004t0006g0014 a0001c0007t0006g0189 a0001c0007t0006g0234 a0001c0007t0036g0005 a0001c0007t0067g0236 a0001c0023t0001g0132 a0001c0044t0032g0227 a0002c0005t0004g0275 a0002c0005t0033g0010 a0002c0005t0033g0011 a0002c0005t0064g0245 a0002c0008t0004g0152 a0002c0008t0031g0288 a0002c0008t0031g0289	16	318	0.0503	16	c.726 others(33): Show c.726+4395_726+4396insATGTGTGTGTGTGTGT		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7834128	C C	CACACACA others(9): Show CACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01975.hp2 HG01981.hp2 others(12): Show HG01884.hp2 HG01975.hp2 HG01981.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0032 others(3): Show a0001c0002 a0001c0004 a0001c0032 a0002c0005 a0002c0008 a0002c0035	a0001c0002t0013 a0001c0002t0022 a0001c0002t0040 others(6): Show a0001c0002t0013 a0001c0002t0022 a0001c0002t0040 a0001c0004t0006 a0001c0004t0007 a0001c0032t0009 a0002c0005t0004 a0002c0008t0004 a0002c0035t0001	a0001c0002t0013g0224 a0001c0002t0022g0222 a0001c0002t0022g0223 others(12): Show a0001c0002t0013g0224 a0001c0002t0022g0222 a0001c0002t0022g0223 a0001c0002t0040g0220 a0001c0004t0006g0211 a0001c0004t0006g0299 a0001c0004t0007g0269 a0001c0004t0007g0271 a0001c0004t0007g0272 a0001c0004t0007g0304 a0001c0004t0007g0305 a0001c0032t0009g0267 a0002c0005t0004g0307 a0002c0008t0004g0149 a0002c0035t0001g0257	15	318	0.0472	16	c.726 others(33): Show c.726+4395_726+4396insATATGTGTGTGTGTGT		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7834128	C C	CACACACA others(9): Show CACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0214 a0005c0018t0004g0214	1	318	0.0031	16	c.726 others(33): Show c.726+4395_726+4396insATATATGTGTGTGTGT		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7840263	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02148.hp2 HG02004.hp2 HG02148.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0218 a0002c0005t0004g0219 a0002c0005t0004g0218 a0002c0005t0004g0219	2	318	0.0063	16	c.547 others(33): Show c.547-1561_547-1560insGCACACACACACACAC		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7848099	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02015.hp1 others(8): Show HG01257.hp2 HG01258.hp1 HG02015.hp1 HG02630.hp2 HG02698.hp1 HG03225.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0037 a0001c0038	a0001c0001t0015 a0001c0002t0028 a0001c0007t0006 others(6): Show a0001c0001t0015 a0001c0002t0028 a0001c0007t0006 a0001c0007t0021 a0001c0007t0036 a0001c0007t0061 a0001c0010t0012 a0001c0037t0003 a0001c0038t0002	a0001c0001t0015g0116 a0001c0001t0015g0117 a0001c0002t0028g0105 others(8): Show a0001c0001t0015g0116 a0001c0001t0015g0117 a0001c0002t0028g0105 a0001c0007t0006g0228 a0001c0007t0021g0254 a0001c0007t0021g0255 a0001c0007t0036g0005 a0001c0007t0061g0258 a0001c0010t0012g0002 a0001c0037t0003g0115 a0001c0038t0002g0212	11	318	0.0346	16	c.335 others(33): Show c.335-4765_335-4750dupCTTCCTTCCTTCCTTC		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	4/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7898808	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01257.hp1 HG02027.hp1 others(9): Show HG00408.hp2 HG01257.hp1 HG02027.hp1 HG02080.hp1 HG02257.hp1 HG02451.hp1 HG02717.hp1 HG02922.hp2 HG02976.hp1 HG03579.hp2 NA19012.hp1 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0008	a0001c0001t0001 a0001c0001t0046 a0001c0002t0034 others(4): Show a0001c0001t0001 a0001c0001t0046 a0001c0002t0034 a0001c0002t0040 a0002c0005t0004 a0002c0005t0064 a0002c0008t0004	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0091 a0001c0001t0046g0080 a0001c0002t0034g0268 a0001c0002t0040g0220 a0002c0005t0004g0012 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0005t0064g0245 a0002c0008t0004g0147	12	318	0.0377	16	c.-2- others(33): Show c.-2-26744_-2-26729dupACACACACACACACAC		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17						chr4	TogoVar
AFAP1_chr4_7753714_7944861	7899857	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0112 a0001c0017t0003g0112	1	318	0.0031	16	c.-2- others(33): Show c.-2-27793_-2-27778dupATTTATTTATTTATTT		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17						chr4	TogoVar
AFF1_chr4_86930011_87146039	86969879	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18964.hp1 HG01517.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0024 a0001c0001t0003g0061 a0001c0001t0002g0024 a0001c0001t0003g0061	2	294	0.0068	16	c.38+ others(33): Show c.38+21311_38+21326dupAAAAAAAAAAAAAAAA		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	86978177	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00673.hp1 others(22): Show HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01074.hp1 HG01074.hp2 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01517.hp2 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02273.hp1 HG02970.hp2 HG03486.hp2 NA18940.hp1 NA18953.hp1 NA18977.hp2 NA18985.hp2 NA19001.hp1 NA19060.hp1 NA19066.hp2 NA19070.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0028 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0060 a0001c0001t0065 a0001c0002t0005 a0001c0003t0027 a0001c0028t0002 a0004c0009t0004	a0001c0001t0001g0034 a0001c0001t0002g0013 a0001c0001t0002g0021 others(22): Show a0001c0001t0001g0034 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0071 a0001c0001t0002g0191 a0001c0001t0003g0027 a0001c0001t0003g0065 a0001c0001t0003g0239 a0001c0001t0004g0035 a0001c0001t0004g0215 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0009g0217 a0001c0001t0060g0242 a0001c0001t0065g0214 a0001c0002t0005g0118 a0001c0003t0027g0186 a0001c0028t0002g0038 a0004c0009t0004g0057	25	294	0.0850	16	c.38+ others(33): Show c.38+29615_38+29630dupTTTTTTTTTTTTTTTT		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	86985181	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp2 NA20805.hp1 HG01167.hp1 HG02559.hp2 NA20805.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0013c0020 a0001c0001 a0001c0003 a0013c0020	a0001c0001t0025 a0001c0003t0027 a0013c0020t0061 a0001c0001t0025 a0001c0003t0027 a0013c0020t0061	a0001c0001t0025g0190 a0001c0003t0027g0188 a0013c0020t0061g0171 a0001c0001t0025g0190 a0001c0003t0027g0188 a0013c0020t0061g0171	3	294	0.0102	16	c.38+ others(33): Show c.38+36629_38+36644dupTATATATATATATATA		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	86985214	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG02630.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0008 a0001c0025t0003 a0001c0001t0008 a0001c0025t0003	a0001c0001t0008g0112 a0001c0025t0003g0111 a0001c0001t0008g0112 a0001c0025t0003g0111	2	294	0.0068	16	c.38+ others(33): Show c.38+36644_38+36645insTATATATATATATAAA		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87000605	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	294	0.0034	16	c.39- others(33): Show c.39-45540_39-45525dupTGTGTGTGTGTGTGTG		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87022547	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	294	0.0034	16	c.39- others(33): Show c.39-23608_39-23607insCACACATATATATATA		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87022662	G G	GTGTGTGT others(9): Show GTGTGTGTATATATAGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0108 a0001c0003t0003g0108	1	294	0.0034	16	c.39- others(33): Show c.39-23490_39-23489insGCTGTGTGTATATATA		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87022664	G G	GTGTGTAT others(9): Show GTGTGTATATATATAGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp2 HG01243.hp1 others(9): Show HG01167.hp1 HG01175.hp2 HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02622.hp2 HG02723.hp1 HG02922.hp1 HG03486.hp2 HG03834.hp2 NA20129.hp2 NA20805.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0013c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0001c0001t0025 a0001c0001t0050 a0001c0001t0060 a0001c0002t0005 a0001c0004t0022 a0013c0020t0061	a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0003g0239 others(9): Show a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0003g0239 a0001c0001t0011g0240 a0001c0001t0019g0247 a0001c0001t0025g0190 a0001c0001t0050g0241 a0001c0001t0060g0242 a0001c0002t0005g0118 a0001c0004t0022g0243 a0001c0004t0022g0251 a0013c0020t0061g0171	12	294	0.0408	16	c.39- others(33): Show c.39-23489_39-23488insAGCTGTGTATATATAT		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87063228	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02257.hp2 NA19240.hp1 HG01361.hp2 HG02257.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0077 a0001c0001t0001g0163 a0001c0003t0001g0180 a0001c0001t0001g0077 a0001c0001t0001g0163 a0001c0003t0001g0180	3	294	0.0102	16	c.105 others(37): Show c.1059+15647_1059+15662dupTTTTTTTTTTTTTTTT		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87069513	C C	CCTCTCCC others(9): Show CCTCTCCCCTCCTCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18522.hp1 NA18906.hp2 HG02572.hp2 NA18522.hp1 NA18906.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0021 a0002c0008t0042 a0002c0008t0021 a0002c0008t0042	a0002c0008t0021g0014 a0002c0008t0021g0016 a0002c0008t0042g0015 a0002c0008t0021g0014 a0002c0008t0021g0016 a0002c0008t0042g0015	3	294	0.0102	16	c.106 others(37): Show c.1060-14581_1060-14566dupCCTCTTTCTCTCCCCT		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87069517	T T	TCCCCTCC others(9): Show TCCCCTCCTCTTTCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01361.hp1 others(64): Show HG01109.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18948.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18985.hp2 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19077.hp1 NA19083.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0018	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0017 a0001c0025 a0003c0012 a0010c0015 a0018c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0033 a0001c0001t0051 a0001c0001t0060 a0001c0001t0068 a0001c0002t0005 a0001c0002t0044 a0001c0002t0056 a0001c0003t0020 a0001c0004t0022 a0001c0004t0023 a0001c0004t0046 a0001c0005t0041 a0001c0005t0052 a0001c0006t0003 a0001c0006t0008 a0001c0007t0008 a0001c0011t0008 a0001c0017t0005 a0001c0025t0003 a0003c0012t0004 a0010c0015t0055 a0018c0013t0070	a0001c0001t0001g0270 a0001c0001t0003g0017 a0001c0001t0003g0019 others(64): Show a0001c0001t0001g0270 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0079 a0001c0001t0003g0192 a0001c0001t0003g0239 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0276 a0001c0001t0003g0293 a0001c0001t0007g0269 a0001c0001t0007g0277 a0001c0001t0007g0282 a0001c0001t0007g0284 a0001c0001t0008g0115 a0001c0001t0010g0252 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0010g0256 a0001c0001t0013g0268 a0001c0001t0013g0287 a0001c0001t0013g0294 a0001c0001t0015g0114 a0001c0001t0033g0091 a0001c0001t0051g0109 a0001c0001t0060g0242 a0001c0001t0068g0290 a0001c0002t0005g0116 a0001c0002t0005g0117 a0001c0002t0005g0118 a0001c0002t0005g0185 a0001c0002t0005g0193 a0001c0002t0005g0194 a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0249 a0001c0002t0044g0195 a0001c0002t0056g0200 a0001c0003t0020g0178 a0001c0003t0020g0183 a0001c0004t0022g0243 a0001c0004t0022g0251 a0001c0004t0023g0104 a0001c0004t0023g0250 a0001c0004t0046g0105 a0001c0005t0041g0175 a0001c0005t0052g0172 a0001c0006t0003g0279 a0001c0006t0003g0291 a0001c0006t0008g0184 a0001c0007t0008g0211 a0001c0007t0008g0237 a0001c0011t0008g0110 a0001c0017t0005g0097 a0001c0025t0003g0111 a0003c0012t0004g0122 a0010c0015t0055g0012 a0018c0013t0070g0010	67	294	0.2279	16	c.106 others(37): Show c.1060-14588_1060-14587insCCCCCTCCTCTTTCTC		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)