Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALKBH2_chr12_109083189_109098472	109097188	T T	TATTATAT others(17): Show TATTATATTTTGTGTGTGTATTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	470	0.0021	24	c.-40 others(35): Show c.-4094_-4093insCAAAATACACACACAAAATATAAT	ALKBH2	ENSG00000189046.11	transcript	ENST00000429722.3	protein_coding		3717		chr12	TogoVar
ALKBH4_chr7_102451238_102469863	102467169	G G	GGTGTGTG others(17): Show GGTGTGTGTGTATGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	404	0.0025	24	c.-23 others(35): Show c.-2334_-2333insACACACACACACATACACACACAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2307		chr7	TogoVar
ALKBH5_chr17_18178828_18214954	18201775	A A	ATAGATAG others(17): Show ATAGATAGATAGATAGATAGATAGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04115.hp2 HG04184.hp2 others(4): Show HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18963.hp2 NA18967.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0161 a0001c0001t0002g0163 others(3): Show a0001c0001t0002g0036 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0204	7	418	0.0168	24	c.852 others(41): Show c.852-5029_852-5028insATAGATAGATAGGTAGATAGATAG	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALK_chr2_29187774_29926586	29831259	G G	GGAAGAGG others(17): Show GGAAGAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0001 a0002c0047t0001	a0002c0047t0001g0055 a0002c0047t0001g0055	1	80	0.0125	24	c.667 others(43): Show c.667+88733_667+88734insTTCTTCTTCTTCTTCTTCCTCTTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690267	C C	CCCCCTCC others(17): Show CCCCCTCCCCCCTCCTCTTCCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0209 a0003c0003t0002g0209	1	274	0.0037	24	c.512 others(41): Show c.512-5441_512-5440insCCTCCTCTTCCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(17): Show CCCTCCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0119 a0002c0002t0002g0119	1	274	0.0037	24	c.512 others(41): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCTCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690305	C C	CCCCCCCT others(17): Show CCCCCCCTCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	274	0.0037	24	c.512 others(41): Show c.512-5412_512-5411insCCCCCCTCCCCTCCCCCCTCCCCT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690306	T T	TCCCCCTC others(17): Show TCCCCCTCCCCTCCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02293.hp1 NA18945.hp2 others(3): Show HG01074.hp2 HG02293.hp1 NA18945.hp2 NA18963.hp1 NA19057.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0101 a0001c0001t0001g0102 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0002g0213	6	274	0.0219	24	c.512 others(41): Show c.512-5383_512-5360dupCCTCCCCTCCCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3697621	G G	GTCTGTCT others(17): Show GTCTGTCTGTCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0236 a0002c0005t0001g0236	1	274	0.0037	24	c.850 others(39): Show c.850+168_850+169insGTCTGTCTGTCTGTCTATCTATCT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73441610	A A	ACTATTCC others(17): Show ACTATTCCTATTCCTATTCCTATTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp1 HG02145.hp1 others(6): Show HG01099.hp2 HG02055.hp1 HG02145.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1 NA20300.hp1	a0002 a0006 a0002 a0006	a0002c0020 a0002c0040 a0006c0007 a0002c0020 a0002c0040 a0006c0007	a0002c0020t0001 a0002c0040t0001 a0006c0007t0001 a0002c0020t0001 a0002c0040t0001 a0006c0007t0001	a0002c0020t0001g0207 a0002c0040t0001g0206 a0006c0007t0001g0098 others(6): Show a0002c0020t0001g0207 a0002c0040t0001g0206 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229	9	248	0.0363	24	c.143 others(43): Show c.1433-6327_1433-6326insCCTATTCCTATTCCTATTCCTATT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(17): Show CGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	404	0.0025	24	c.141 others(39): Show c.1418+32_1418+33insGGGGGGGGGGGGGGGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13			chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18969.hp1 NA19055.hp2 others(1): Show HG01081.hp2 NA18969.hp1 NA19055.hp2 NA19089.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0005 a0001c0001t0001 a0002c0003t0001 a0003c0004t0005	a0001c0001t0001g0226 a0002c0003t0001g0228 a0003c0004t0005g0227 others(1): Show a0001c0001t0001g0226 a0002c0003t0001g0228 a0003c0004t0005g0227 a0003c0004t0005g0276	4	470	0.0085	24	c.449 others(39): Show c.449+648_449+671dupGAAAGAAAGAAAGAAAGAAAGAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044151	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	470	0.0021	24	c.677 others(39): Show c.677-675_677-674insGGAAGGAAGGAAGGAAAGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044151	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00735.hp1 others(34): Show HG00140.hp2 HG00438.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG02109.hp1 HG02165.hp1 HG02280.hp1 HG02698.hp1 HG03041.hp2 HG03471.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18985.hp1 NA18998.hp1 NA19064.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0014 a0002c0002 others(1): Show a0001c0008 a0001c0014 a0002c0002 a0002c0003	a0001c0008t0001 a0001c0014t0004 a0002c0002t0001 others(3): Show a0001c0008t0001 a0001c0014t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0002	a0001c0008t0001g0243 a0001c0014t0004g0142 a0002c0002t0001g0008 others(13): Show a0001c0008t0001g0243 a0001c0014t0004g0142 a0002c0002t0001g0008 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0034 a0002c0002t0002g0044 a0002c0002t0002g0052 a0002c0002t0002g0104 a0002c0002t0002g0232 a0002c0002t0006g0005 a0002c0002t0006g0008 a0002c0002t0006g0016 a0002c0003t0002g0080	37	470	0.0787	24	c.677 others(39): Show c.677-675_677-674insGGAAGGAAGGAAGGAAGGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18959.hp2 NA18971.hp2 others(2): Show NA18947.hp2 NA18959.hp2 NA18971.hp2 NA18981.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0109 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0109	5	470	0.0106	24	c.71 others(33): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049293	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	470	0.0021	24	c.72 others(33): Show c.728_*729insAAAAAAAAAAAAAAAAAAAAAAAC	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		160		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	470	0.0021	24	c.17 others(35): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAGAGAGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	422	0.0024	24	c.168 others(41): Show c.1684+502_1684+503insTCTCTCTTCTTTCTTTCTTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0030 a0030	a0030c0030 a0030c0030	a0030c0030t0006 a0030c0030t0006	a0030c0030t0006g0081 a0030c0030t0006g0081	1	320	0.0031	24	c.196 others(45): Show c.1962+14690_1962+14691insAAAAAAAAAAAAAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG02738.hp1 others(1): Show HG00735.hp1 HG00738.hp1 HG02738.hp1 NA19012.hp1	a0004 a0009 a0027 others(1): Show a0004 a0009 a0027 a0045	a0004c0004 a0009c0008 a0027c0057 others(1): Show a0004c0004 a0009c0008 a0027c0057 a0045c0062	a0004c0004t0002 a0009c0008t0003 a0027c0057t0012 others(1): Show a0004c0004t0002 a0009c0008t0003 a0027c0057t0012 a0045c0062t0001	a0004c0004t0002g0079 a0009c0008t0003g0118 a0027c0057t0012g0101 others(1): Show a0004c0004t0002g0079 a0009c0008t0003g0118 a0027c0057t0012g0101 a0045c0062t0001g0222	4	320	0.0125	24	c.196 others(39): Show c.1962+57_1962+80dupGTGTGTGTGTGTGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(17): Show GACACACACACGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01258.hp2 others(8): Show HG01243.hp1 HG01256.hp2 HG01258.hp2 HG02055.hp1 HG02717.hp2 HG02886.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 NA18522.hp2 NA21309.hp2	a0002 a0006 a0008 others(3): Show a0002 a0006 a0008 a0012 a0058 a0062	a0002c0014 a0006c0024 a0008c0035 others(3): Show a0002c0014 a0006c0024 a0008c0035 a0012c0092 a0058c0094 a0062c0077	a0002c0014t0004 a0002c0014t0020 a0006c0024t0001 others(7): Show a0002c0014t0004 a0002c0014t0020 a0006c0024t0001 a0006c0024t0005 a0006c0024t0013 a0008c0035t0006 a0008c0035t0008 a0012c0092t0003 a0058c0094t0005 a0062c0077t0005	a0002c0014t0004g0133 a0002c0014t0004g0134 a0002c0014t0020g0089 others(8): Show a0002c0014t0004g0133 a0002c0014t0004g0134 a0002c0014t0020g0089 a0006c0024t0001g0271 a0006c0024t0005g0279 a0006c0024t0013g0090 a0008c0035t0006g0058 a0008c0035t0008g0149 a0012c0092t0003g0320 a0058c0094t0005g0315 a0062c0077t0005g0272	11	320	0.0344	24	c.196 others(39): Show c.1962+80_1962+81insGTGCGCGCGCGCGCGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(17): Show GACACACACACGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0053 a0053	a0053c0074 a0053c0074	a0053c0074t0001 a0053c0074t0001	a0053c0074t0001g0162 a0053c0074t0001g0162	1	320	0.0031	24	c.196 others(39): Show c.1962+80_1962+81insGCGCGCGCGCGCGCGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578734	A A	ACACACAC others(17): Show ACACACACACGCGCGCACGCGCGCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01168.hp2 others(12): Show HG00544.hp2 HG00621.hp2 HG01168.hp2 HG01884.hp1 HG02896.hp1 HG04115.hp1 NA18522.hp1 NA18948.hp1 NA18965.hp2 NA18989.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19060.hp1 NA19090.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0012	a0001c0001 a0001c0016 a0002c0002 others(3): Show a0001c0001 a0001c0016 a0002c0002 a0008c0027 a0012c0023 a0012c0083	a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0008c0027t0002 a0008c0027t0010 a0012c0023t0010 a0012c0083t0010	a0001c0001t0001g0176 a0001c0001t0001g0234 a0001c0001t0001g0237 others(12): Show a0001c0001t0001g0176 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0003g0198 a0001c0016t0001g0212 a0001c0016t0001g0288 a0002c0002t0001g0146 a0002c0002t0001g0238 a0002c0002t0002g0002 a0002c0002t0005g0289 a0002c0002t0005g0307 a0008c0027t0002g0074 a0008c0027t0010g0104 a0012c0023t0010g0097 a0012c0083t0010g0103	15	320	0.0469	24	c.196 others(39): Show c.1962+79_1962+80insCGCGCGCGTGCGCGCGTGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578740	A A	ACGCGCGC others(17): Show ACGCGCGCGCGCGCGCGCGTGCACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0052 a0052	a0052c0075 a0052c0075	a0052c0075t0002 a0052c0075t0002	a0052c0075t0002g0046 a0052c0075t0002g0046	1	320	0.0031	24	c.196 others(39): Show c.1962+73_1962+74insCGTGCACGCGCGCGCGCGCGCGCG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK3_chr15_84812356_84878479	84847208	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0172 a0001c0001t0005g0172	1	340	0.0029	24	c.165 others(43): Show c.1653+6294_1653+6317dupAGAGAGAGAGAGAGAGAGAGAGAG	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	340	0.0029	24	c.165 others(43): Show c.1654-5500_1654-5477dupACACACACACACACACACACACAC	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18984.hp1 NA19007.hp2 others(4): Show NA18963.hp1 NA18984.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19058.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0006c0011t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0030 a0006c0011t0001g0012	7	410	0.0171	24	c.32 others(35): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19089.hp2 NA19054.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	24	c.33 others(35): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA18959.hp2 HG02559.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	24	c.33 others(35): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 NA18980.hp2 NA19240.hp1 HG00741.hp2 NA18980.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0020	3	410	0.0073	24	c.33 others(35): Show c.3320_*3321insAGAAGAAGAAGAAGAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALX4_chr11_44255440_44315139	44293170	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0095	1	388	0.0026	24	c.466 others(43): Show c.466+16426_466+16427insCTCCTTCCTTCCTTCCTTCCTTCC	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ALX4_chr11_44255440_44315139	44309149	T T	TGCTGTCC others(17): Show TGCTGTCCCGCAGCCCCGCAGCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00673.hp2 others(15): Show HG00544.hp2 HG00621.hp2 HG00673.hp2 HG01169.hp1 HG02071.hp2 HG02132.hp2 HG02165.hp2 HG02698.hp2 HG03017.hp2 HG04204.hp2 NA18948.hp2 NA18973.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19079.hp1 NA19088.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0008 a0002c0003 a0002c0004 a0002c0008	a0002c0003t0001 a0002c0003t0018 a0002c0004t0003 others(6): Show a0002c0003t0001 a0002c0003t0018 a0002c0004t0003 a0002c0004t0005 a0002c0004t0014 a0002c0004t0022 a0002c0004t0046 a0002c0008t0006 a0002c0008t0051	a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 others(15): Show a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0018g0061 a0002c0004t0003g0057 a0002c0004t0005g0058 a0002c0004t0014g0070 a0002c0004t0022g0074 a0002c0004t0046g0069 a0002c0008t0006g0071 a0002c0008t0051g0059	18	388	0.0464	24	c.466 others(39): Show c.466+424_466+447dupGGGGCTGCGGGGCTGCGGGACAGC	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ALX4_chr11_44255440_44315139	44309154	T T	TCCCGCAG others(17): Show TCCCGCAGCCCCGCAGCCCCGCAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01123.hp2 others(17): Show HG00140.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG02109.hp1 HG02129.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG03041.hp1 NA18953.hp1 NA18961.hp1 NA18979.hp1 NA18979.hp2 NA19007.hp1 NA19065.hp1 NA19078.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0028 a0001c0002t0036 a0001c0002t0056 a0001c0005t0005 a0002c0003t0004 a0002c0003t0049 a0003c0006t0003 a0003c0006t0007	a0001c0001t0001g0355 a0001c0001t0001g0364 a0001c0001t0001g0365 others(17): Show a0001c0001t0001g0355 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0002g0353 a0001c0001t0017g0357 a0001c0001t0017g0359 a0001c0002t0003g0360 a0001c0002t0003g0368 a0001c0002t0007g0356 a0001c0002t0008g0354 a0001c0002t0009g0366 a0001c0002t0011g0362 a0001c0002t0028g0361 a0001c0002t0036g0363 a0001c0002t0056g0367 a0001c0005t0005g0358 a0002c0003t0004g0145 a0002c0003t0049g0146 a0003c0006t0003g0039 a0003c0006t0007g0038	20	388	0.0516	24	c.466 others(39): Show c.466+419_466+442dupGCTGCGGGGCTGCGGGGCTGCGGG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ALX4_chr11_44255440_44315139	44309180	T T	TCGCAGCC others(17): Show TCGCAGCCCCGCAGCCCCGCAGCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0210 a0001c0002t0004g0210	1	388	0.0026	24	c.466 others(39): Show c.466+393_466+416dupGGGCTGCGGGGCTGCGGGGCTGCG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
AMBP_chr9_114055127_114083300	114066376	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	454	0.0022	24	c.603 others(41): Show c.603+3299_603+3322dupACACACACACACACACACACACAC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01070.hp2 others(50): Show HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 NA18906.hp2 NA18960.hp1 NA18964.hp1 NA18990.hp1 NA19010.hp1 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0005t0001 a0003c0010t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(50): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0005g0001 a0001c0002t0002g0102 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0153 a0001c0002t0002g0156 a0001c0005t0001g0022 a0003c0010t0002g0149	53	160	0.3313	24	c.297 others(43): Show c.2977-1967_2977-1944dupGTGTGTGTGTGTGTGTGTGTGTGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	160	0.0063	24	c.-12 others(43): Show c.-120-3892_-120-3869dupTTTTTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95946576	G G	GCTCCCCC others(17): Show GCTCCCCCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0094 a0002c0003t0001g0094	1	404	0.0025	24	c.137 others(41): Show c.137+3083_137+3106dupCCTCCCCCTCCCCCTCCCCCTCCC	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18998.hp2 NA19000.hp1 others(4): Show NA18944.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19074.hp1 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0053	7	318	0.0220	24	c.38 others(35): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMER1_chrX_64180117_64210708	64189514	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0087 a0001c0003t0087	a0001c0003t0087g0158 a0001c0003t0087g0158	1	243	0.0041	24	c.36 others(33): Show c.364_*365insTATATATATATATACACACACACA	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	364		chrX	TogoVar
AMER2_chr13_25156679_25177288	25174799	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCCTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	416	0.0024	24	c.-31 others(35): Show c.-3181_-3180insGGGAGGGAGGGAGGGAAGGAAGGA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2512		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174807	T T	TTCCCTCC others(17): Show TTCCCTCCCTCCCTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0000 a0001c0001t0076g0000	1	416	0.0024	24	c.-31 others(35): Show c.-3189_-3188insGGGAGGGAGGGAGGGAGGGAGGGA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2520		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19084.hp2 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	416	0.0048	24	c.-32 others(35): Show c.-3207_-3206insAAAGGAAGGAAGGAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	416	0.0024	24	c.-32 others(35): Show c.-3207_-3206insAAAGAAAGGAAGGAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	24	c.-32 others(35): Show c.-3207_-3206insAAAGAAAGAAAGGAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	416	0.0024	24	c.-32 others(35): Show c.-3207_-3206insAAAGAAAGAAAGAAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(17): Show CCTTCCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02280.hp2 NA18612.hp2 others(3): Show HG00408.hp2 HG02280.hp2 NA18612.hp2 NA18978.hp2 NA18993.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0033 a0001c0001t0073	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0033g0000 a0001c0001t0073g0000	6	416	0.0144	24	c.-32 others(35): Show c.-3207_-3206insAAAGAAAGAAAGAAAGAAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMFR_chr16_56356452_56430545	56406105	G G	GGGGGAGA others(17): Show GGGGGAGACGGGGGAGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0208 a0001c0001t0010g0208	1	356	0.0028	24	c.667 others(39): Show c.667-862_667-861insTCTCCCCCTCTCCCCCGTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406127	G G	GGGAGAGA others(17): Show GGGAGAGAGGAGAGGAGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01167.hp1 others(5): Show HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01516.hp1 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 a0001c0001t0025 a0001c0001t0032 a0001c0001t0041 a0001c0002t0012	a0001c0001t0004g0199 a0001c0001t0005g0012 a0001c0001t0005g0044 others(5): Show a0001c0001t0004g0199 a0001c0001t0005g0012 a0001c0001t0005g0044 a0001c0001t0022g0014 a0001c0001t0025g0183 a0001c0001t0032g0045 a0001c0001t0041g0161 a0001c0002t0012g0322	8	356	0.0225	24	c.667 others(39): Show c.667-907_667-884dupTCTCCTCTCTCCTCTCCTCTCTCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp1 NA18955.hp2 others(1): Show HG01515.hp1 HG01516.hp1 NA18955.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0034 a0001c0001t0005 a0001c0001t0022 a0001c0001t0034	a0001c0001t0005g0011 a0001c0001t0005g0028 a0001c0001t0022g0014 others(1): Show a0001c0001t0005g0011 a0001c0001t0005g0028 a0001c0001t0022g0014 a0001c0001t0034g0029	4	356	0.0112	24	c.667 others(41): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar

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Search Results (Total: 10000 hits)