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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLXNA4_chr7_132118340_132581470	132132488	C C	CTCTGCTC others(12): Show CTCTGCTCTATTCTTTCTAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0044 a0001c0001t0014g0044	1	88	0.0114	19	c.558 others(36): Show c.5589+560_5589+561insATAGAAAGAATAGAGCAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132497	T T	TTCTATTC others(12): Show TTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0024 a0001c0011t0001g0024	1	88	0.0114	19	c.558 others(36): Show c.5589+551_5589+552insTAGAATAGAATAGAATAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151355	A A	AAGGAGGA others(12): Show AAGGAGGAGGAGGAGAAAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02809.hp1 HG02257.hp2 HG02258.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0013 a0001c0002t0003 a0001c0001t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0003g0072 a0001c0001t0013g0086 a0001c0002t0003g0005 a0001c0001t0003g0072 a0001c0001t0013g0086 a0001c0002t0003g0005	3	88	0.0341	19	c.466 others(38): Show c.4661-2728_4661-2710dupCCTTTCTCCTCCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151412	G G	GAGGAGGA others(12): Show GAGGAGGAGGAGGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG03139.hp2 HG01496.hp1 HG02647.hp1 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0019 a0002c0036 a0003c0016 a0001c0019 a0002c0036 a0003c0016	a0001c0019t0006 a0002c0036t0006 a0003c0016t0006 a0001c0019t0006 a0002c0036t0006 a0003c0016t0006	a0001c0019t0006g0075 a0002c0036t0006g0031 a0003c0016t0006g0074 a0001c0019t0006g0075 a0002c0036t0006g0031 a0003c0016t0006g0074	3	88	0.0341	19	c.466 others(38): Show c.4661-2767_4661-2766insTCTTCTTCCTCCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151577	A A	AAGGAGGA others(12): Show AAGGAGGAGGAGGAGAAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG02258.hp1 others(4): Show HG00639.hp1 HG02257.hp2 HG02258.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0037 a0001c0001 a0001c0002 a0001c0037	a0001c0001t0003 a0001c0001t0013 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0002t0003 a0001c0037t0003	a0001c0001t0003g0072 a0001c0001t0003g0087 a0001c0001t0013g0086 others(4): Show a0001c0001t0003g0072 a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0002t0003g0005 a0001c0002t0003g0014 a0001c0002t0003g0064 a0001c0037t0003g0080	7	88	0.0796	19	c.466 others(38): Show c.4661-2932_4661-2931insCCTTTCTCCTCCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132178289	C C	CTGCTCTA others(12): Show CTGCTCTAGTGGGGTGAAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG02717.hp1 others(1): Show HG01496.hp1 HG02647.hp1 HG02717.hp1 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0018 a0001c0019 others(1): Show a0001c0006 a0001c0018 a0001c0019 a0003c0016	a0001c0006t0007 a0001c0018t0020 a0001c0019t0006 others(1): Show a0001c0006t0007 a0001c0018t0020 a0001c0019t0006 a0003c0016t0006	a0001c0006t0007g0085 a0001c0018t0020g0036 a0001c0019t0006g0075 others(1): Show a0001c0006t0007g0085 a0001c0018t0020g0036 a0001c0019t0006g0075 a0003c0016t0006g0074	4	88	0.0455	19	c.387 others(38): Show c.3874+1379_3874+1397dupCCTTCACCCCACTAGAGCA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	20/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188998	G G	GGAGAGGA others(12): Show GGAGAGGAGAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	88	0.0114	19	c.285 others(38): Show c.2857-1392_2857-1391insTTTCCTTTCCTCTCCTCTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94274155	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0003 a0002c0030t0003	a0002c0030t0003g0063 a0002c0030t0003g0063	1	298	0.0034	19	c.359 others(38): Show c.3598-5303_3598-5285dupAAAAAAAAAAAAAAAAAAA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(12): Show GGGTGGGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG03942.hp1 HG01168.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0091 a0001c0001t0001g0009 a0001c0001t0001g0091	2	330	0.0061	19	c.-45 others(30): Show c.-4531_-4530insGCCCCCCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594359	G G	GGGGGGGT others(12): Show GGGGGGGTGGGGGAGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	330	0.0030	19	c.-45 others(30): Show c.-4555_-4554insACCGCCTCCCCCACCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4520		chr22	TogoVar
PMM2_chr16_8792839_8854325	8832965	C C	CCCCGACC others(12): Show CCCCGACCACACCACAGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0006 a0001c0001 a0001c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0005t0001 a0005c0006t0018	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(147): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0325 a0001c0001t0001g0337 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0385 a0001c0001t0002g0089 a0001c0001t0002g0099 a0001c0001t0002g0140 a0001c0001t0002g0228 a0001c0001t0002g0282 a0001c0001t0002g0292 a0001c0001t0003g0137 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0167 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0021 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0015g0327 a0001c0001t0015g0328 a0001c0001t0017g0017 a0001c0001t0017g0018 a0001c0001t0019g0032 a0001c0001t0019g0033 a0001c0001t0020g0222 a0001c0001t0020g0284 a0001c0001t0022g0330 a0001c0001t0029g0321 a0001c0001t0031g0045 a0001c0001t0032g0209 a0001c0001t0034g0035 a0001c0005t0001g0065 a0001c0005t0001g0066 a0005c0006t0018g0286 a0005c0006t0018g0287	155	408	0.3799	19	c.640 others(38): Show c.640-14756_640-14755insGACCACACCACAGGCTCCC	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0176 a0001c0001t0005g0106 a0001c0001t0005g0176	2	408	0.0049	19	c.41 others(30): Show c.4152_*4153insCTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02056.hp2 HG02129.hp2 others(1): Show HG01361.hp2 HG02056.hp2 HG02129.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0230 a0001c0001t0002g0256 a0001c0001t0002g0293 others(1): Show a0001c0001t0002g0230 a0001c0001t0002g0256 a0001c0001t0002g0293 a0002c0002t0002g0196	4	408	0.0098	19	c.41 others(30): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	234	0.0043	19	c.234 others(36): Show c.2342+442_2342+460dupAAAAAAAAAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009972	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0320 a0006c0007t0006g0320	1	408	0.0025	19	c.-95 others(28): Show c.-954_-953insATATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		924		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02040.hp1 HG02273.hp2 others(6): Show HG01358.hp1 HG02040.hp1 HG02273.hp2 NA18968.hp2 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA19062.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0012 others(1): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001	a0001c0002t0002 a0001c0002t0028 a0001c0002t0030 others(4): Show a0001c0002t0002 a0001c0002t0028 a0001c0002t0030 a0001c0003t0001 a0001c0003t0008 a0001c0012t0002 a0002c0001t0001	a0001c0002t0002g0214 a0001c0002t0002g0263 a0001c0002t0002g0270 others(6): Show a0001c0002t0002g0214 a0001c0002t0002g0263 a0001c0002t0002g0270 a0001c0002t0028g0226 a0001c0002t0030g0212 a0001c0003t0001g0211 a0001c0003t0008g0208 a0001c0012t0002g0180 a0002c0001t0001g0162	9	408	0.0221	19	c.-95 others(28): Show c.-956_-955insATATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02738.hp1 HG04204.hp1 others(1): Show HG02027.hp1 HG02738.hp1 HG04204.hp1 NA19085.hp2	a0001 a0013 a0001 a0013	a0001c0002 a0013c0022 a0001c0002 a0013c0022	a0001c0002t0002 a0013c0022t0002 a0001c0002t0002 a0013c0022t0002	a0001c0002t0002g0207 a0001c0002t0002g0216 a0001c0002t0002g0319 others(1): Show a0001c0002t0002g0207 a0001c0002t0002g0216 a0001c0002t0002g0319 a0013c0022t0002g0260	4	408	0.0098	19	c.-95 others(28): Show c.-956_-955insATATATATATATATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18950.hp2 HG03041.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0241 a0001c0001t0002g0154 a0001c0001t0002g0241	2	406	0.0049	19	c.-11 others(38): Show c.-111-2743_-111-2725dupTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNKP_chr19_49856204_49872576	49861765	A A	ACGCTACC others(12): Show ACGCTACCTGGCGCGGCTCG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	430	0.0047	19	c.128 others(30): Show c.1286_1298+6dupCGAGCCGCGCCAGGTAGCG	PNKP	ENSG00000039650.12	transcript	ENST00000322344.8	protein_coding	14/16			chr19	TogoVar
PNLIP_chr10_116540931_116572855	116572332	G G	GTGGCTCA others(12): Show GTGGCTCACACCTGTAATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	276	0.0036	19	c.45 others(30): Show c.4534_*4535insTGGCTCACACCTGTAATCC	PNLIP	ENSG00000175535.6	transcript	ENST00000369221.2	protein_coding		4478		chr10	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG01884.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0007 a0001c0008t0040 a0001c0002t0007 a0001c0008t0040	a0001c0002t0007g0043 a0001c0008t0040g0083 a0001c0002t0007g0043 a0001c0008t0040g0083	2	454	0.0044	19	c.-20 others(30): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01516.hp1 HG02922.hp2 others(4): Show HG00741.hp1 HG01516.hp1 HG02922.hp2 HG02965.hp1 HG03239.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0002 a0001c0002t0007g0007 a0001c0002t0007g0043 a0001c0002t0003g0002 a0001c0002t0007g0007 a0001c0002t0007g0043	7	454	0.0154	19	c.-39 others(30): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTATT others(12): Show ATTTTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18986.hp1 HG03710.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0075 a0001c0001t0001g0090	2	424	0.0047	19	c.126 others(36): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	424	0.0024	19	c.126 others(36): Show c.126+1129_126+1130insTTTTTTTTTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330400	T T	TATTTTTT others(12): Show TATTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(42): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02155.hp1 HG02738.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp2 NA18964.hp2 NA18967.hp1 NA18973.hp2 NA18980.hp1 NA18984.hp2 NA18987.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19006.hp1 NA19063.hp1 NA19068.hp1 NA19072.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0319 a0001c0001t0001g0333 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0004g0064 a0002c0002t0001g0074	45	424	0.1061	19	c.126 others(36): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTA	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3			chr8	TogoVar
PNOC_chr8_28312268_28348351	28330400	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01261.hp2 others(1): Show HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0259 a0001c0001t0001g0011 a0001c0001t0001g0259	4	424	0.0094	19	c.126 others(36): Show c.126+1129_126+1130insTTTTTTATTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36273728	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG02735.hp1 HG03834.hp1	a0003 a0011 a0003 a0011	a0003c0006 a0011c0023 a0003c0006 a0011c0023	a0003c0006t0007 a0011c0023t0007 a0003c0006t0007 a0011c0023t0007	a0003c0006t0007g0067 a0011c0023t0007g0068 a0003c0006t0007g0067 a0011c0023t0007g0068	2	386	0.0052	19	c.205 others(36): Show c.205+3070_205+3088dupAAAAAAAAAAAAAAAAAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	1	386	0.0026	19	c.206 others(36): Show c.206-9276_206-9275insAAAGAAAGAAAGAAAGAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8			chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282082	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0252 a0002c0012t0001g0252	1	386	0.0026	19	c.206 others(36): Show c.206-9229_206-9228insAGAAAGAAAGAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(12): Show AGAAAGAAAGAAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	386	0.0026	19	c.206 others(36): Show c.206-9229_206-9228insAGAAAGAAAGAAGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0252 a0002c0012t0001g0252	1	386	0.0026	19	c.206 others(36): Show c.206-9107_206-9106insAAGGAAGGAAGGAAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGGA others(12): Show GGAAGGGAAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0008 a0006c0009t0008	a0006c0009t0008g0177 a0006c0009t0008g0177	1	386	0.0026	19	c.206 others(36): Show c.206-9107_206-9106insAAGGGAAGGAAGGAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA4_chrX_7893247_7932413	7928005	C C	CTAAATAA others(12): Show CTAAATAAGATGCTAAATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0052	1	338	0.0030	19	c.-73 others(28): Show c.-734_-733insCAATTTAGCATCTTATTTA	PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding		593		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137475010	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0020 a0020	a0020c0055 a0020c0055	a0020c0055t0001 a0020c0055t0001	a0020c0055t0001g0177 a0020c0055t0001g0177	1	188	0.0053	19	c.288 others(38): Show c.2882+3005_2882+3023dupTTTTTTTTTTTTTTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	25/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGGGGGGG others(12): Show CGGGGGGGGACCCGGGGGAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	188	0.0053	19	c.147 others(38): Show c.1474-1011_1474-1010insATCCCCCGGGTCCCCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503434	T T	TGAGGAGG others(12): Show TGAGGAGGGGGAAGGAGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp2 HG02071.hp2 others(18): Show HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02735.hp2 HG02809.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03831.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18995.hp1 NA19064.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0019	a0001c0001 a0001c0047 a0002c0003 others(6): Show a0001c0001 a0001c0047 a0002c0003 a0002c0004 a0002c0033 a0006c0009 a0006c0027 a0007c0019 a0019c0032	a0001c0001t0006 a0001c0047t0002 a0002c0003t0001 others(7): Show a0001c0001t0006 a0001c0047t0002 a0002c0003t0001 a0002c0003t0005 a0002c0004t0001 a0002c0033t0001 a0006c0009t0001 a0006c0027t0001 a0007c0019t0001 a0019c0032t0001	a0001c0001t0006g0001 a0001c0047t0002g0175 a0002c0003t0001g0004 others(18): Show a0001c0001t0006g0001 a0001c0047t0002g0175 a0002c0003t0001g0004 a0002c0003t0001g0030 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0068 a0002c0003t0001g0072 a0002c0003t0001g0078 a0002c0003t0001g0134 a0002c0003t0005g0186 a0002c0004t0001g0032 a0002c0004t0001g0155 a0002c0004t0001g0171 a0002c0004t0001g0180 a0002c0033t0001g0103 a0006c0009t0001g0017 a0006c0027t0001g0160 a0007c0019t0001g0127 a0007c0019t0001g0128 a0019c0032t0001g0097	21	188	0.1117	19	c.147 others(38): Show c.1474-1726_1474-1708dupCTTCTCCTTCCCCCTCCTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503519	G G	GGGAAGGA others(12): Show GGGAAGGAGAAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0033 a0006c0009t0001g0033	1	188	0.0053	19	c.147 others(38): Show c.1474-1793_1474-1792insTCCTCCTCCTTCTCCTTCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108467746	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG01496.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0005g0136 a0001c0001t0005g0139	2	390	0.0051	19	c.46 others(30): Show c.4654_*4655insCTTTTTTTTTTTTTTTTTT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding		2670		chr7	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	390	0.0026	19	c.161 others(36): Show c.161+1784_161+1785insAAATATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	390	0.0026	19	c.161 others(36): Show c.161+1784_161+1785insAAAAAAATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02486.hp2 HG01496.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0120 a0001c0001t0006g0121	2	390	0.0051	19	c.161 others(36): Show c.161+1784_161+1785insAAAAAAAAATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0114	1	390	0.0026	19	c.161 others(36): Show c.161+1784_161+1785insAAAAAAAAAAAAATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0174 a0003c0003t0004g0069 a0003c0003t0004g0072 a0001c0001t0001g0174 a0003c0003t0004g0069 a0003c0003t0004g0072	3	390	0.0077	19	c.-14 others(30): Show c.-1456_-1455insTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
POC5_chr5_75669124_75722437	75684363	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp1 HG02895.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0075 a0001c0004t0001g0078 a0001c0004t0001g0075 a0001c0004t0001g0078	2	380	0.0053	19	c.140 others(36): Show c.1407+825_1407+843dupAAAAAAAAAAAAAAAAAAA	POC5	ENSG00000152359.15	transcript	ENST00000428202.7	protein_coding	10/11			chr5	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0232 a0003c0002t0001g0232	1	440	0.0023	19	c.101 others(38): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(12): Show ATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02886.hp1 others(3): Show HG02615.hp1 HG02622.hp2 HG02886.hp1 HG03453.hp1 HG03516.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0004 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0007 a0005c0006t0004	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0002t0004g0015 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0002t0004g0015 a0001c0002t0007g0179 a0005c0006t0004g0025 a0005c0006t0004g0026	6	227	0.0264	19	c.358 others(34): Show c.358-938_358-937insGTGTGTATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(12): Show ATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0177 a0001c0002t0004g0177	1	227	0.0044	19	c.358 others(34): Show c.358-938_358-937insGTGTATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03130.hp1 HG02559.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0087	3	197	0.0152	19	c.296 others(38): Show c.2964+8447_2964+8465dupTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	314	0.0032	19	c.120 others(36): Show c.120-1608_120-1607insTATATATATATATATATAT	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13			chr8	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	400	0.0025	19	c.220 others(36): Show c.220-2126_220-2125insATATATATATATATATATT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)