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 per page.

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
PINX1_chr8_10759961_10844875	10768048	C C	CTCGGTGA others(32): Show CTCGGTGACCAGGCACCCTCACAGCCACACAGAGACAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	352	0.0028	39	c.472 others(56): Show c.472-2133_472-2132insCCCTGTCTCTGTGTGGCTGTGAGGGTGC CTGGTCACCGA		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6						chr8	TogoVar
PITPNC1_chr17_67372281_67702256	67413430	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0051 a0001c0001t0031g0051	1	218	0.0046	39	c.48+ others(56): Show c.48+35230_48+35231insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03225.hp1 HG02004.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0116 a0001c0001t0017g0062 a0001c0001t0002g0116 a0001c0001t0017g0062	2	218	0.0092	39	c.683 others(56): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6560654	C C	CTCCTCTC others(32): Show CTCCTCTCATTATCCTCCTTCTCATTCTCTCTCTTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0145 a0001c0001t0061g0145	1	218	0.0046	39	c.-42 others(50): Show c.-4249_-4248insAGGAGAAGAGAGAGAATGAGAAGGAGGATAATGA GAGGA		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding					4100		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561120	C C	CTCCTCCT others(32): Show CTCCTCCTCTTCCTCCTTCTCCCCTCCTCCTCTTCCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02723.hp2 others(4): Show HG01891.hp2 HG02451.hp2 HG02723.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 others(2): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0007t0051	a0001c0001t0011g0184 a0001c0001t0013g0195 a0001c0001t0022g0152 others(4): Show a0001c0001t0011g0184 a0001c0001t0013g0195 a0001c0001t0022g0152 a0001c0001t0022g0196 a0001c0001t0023g0193 a0001c0001t0023g0194 a0001c0007t0051g0177	7	218	0.0321	39	c.-47 others(50): Show c.-4715_-4714insATGAGGAAGAGGAGGAGGGGAGAAGGAGGAAGAG GAGGA		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding					4566		chr17	TogoVar
PJA2_chr5_109329722_109414974	109353988	T T	TGTCTATG others(32): Show TGTCTATGATATCTAGAGATATCTATAGATTAGATGTCTA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03942.hp1 HG01516.hp2 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0053 a0003c0003t0002g0077 a0003c0003t0002g0053 a0003c0003t0002g0077	2	346	0.0058	39	c.176 others(58): Show c.1764+1926_1764+1927insTAGACATCTAATCTATAGATATCTCT AGATATCATAGAC		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109372923	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	346	0.0029	39	c.128 others(58): Show c.1284-4178_1284-4177insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9						chr5	TogoVar
PKP3_chr11_389209_409908	401785	G G	GCCCCGCT others(32): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0001 a0019c0017t0001	a0019c0017t0001g0109 a0019c0017t0001g0109	1	216	0.0046	39	c.173 others(58): Show c.1737+1080_1737+1081insCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402343	G G	GGCCCGCT others(32): Show GGCCCGCTCACCCCCGACCCGCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03688.hp2 HG02129.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0089 a0001c0001t0001g0012 a0001c0001t0001g0089	2	216	0.0093	39	c.173 others(56): Show c.1738-735_1738-734insGCCCGCTCACCCCCGACCCGCTCACCCC CGGCCCCGCTC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186878085	A A	AAAATATA others(32): Show AAAATATATCTTTTCTGATATATTTTATATATATCTATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG02886.hp2 others(2): Show HG01069.hp2 HG01243.hp2 HG02886.hp2 NA18747.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0094 a0001c0001t0001g0185 a0001c0001t0001g0301 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0185 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0011t0001g0017	5	310	0.0161	39	c.115 others(56): Show c.115+7654_115+7692dupATCTTTTCTGATATATTTTATATATATC TATATAAATAT		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186878300	T T	TTTTTATA others(32): Show TTTTTATATATATCTATATAAATATATCTTTTCTGATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03688.hp2 HG02129.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0106 a0001c0001t0001g0075 a0001c0001t0001g0106	2	310	0.0065	39	c.115 others(56): Show c.115+7797_115+7835dupCTATATAAATATATCTTTTCTGATATAT TTTATATATAT		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48105941	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	322	0.0031	39	c.9-4 others(50): Show c.9-498_9-497insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105947	C C	CTCCTTCT others(32): Show CTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0066 a0001c0001t0010g0066	1	322	0.0031	39	c.9-5 others(50): Show c.9-504_9-503insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGA		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLAAT3_chr11_63569462_63619433	63571808	G G	GGGGAGGG others(32): Show GGGGAGGGGAGGGGAGGGAAGGGGAGGAGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(341): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(326): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0003g0163 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0199 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0245 a0001c0001t0003g0293 a0001c0001t0003g0300 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0005g0172 a0001c0001t0005g0176 a0001c0001t0005g0178 a0001c0001t0005g0298 a0001c0001t0007g0205 a0001c0001t0007g0279 a0001c0001t0007g0281 a0001c0001t0008g0175 a0001c0004t0001g0195 a0001c0005t0001g0322 a0001c0006t0002g0020 a0002c0002t0002g0023 a0002c0002t0002g0107 a0003c0003t0001g0173	344	352	0.9773	39	c.31 others(50): Show c.3136_*3137insTCCCCTCCCCTCTCCTCCCCTTCCCTCCCCTCCC CTCCC		PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding					2653		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63571808	G G	GGGGAGGG others(32): Show GGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02717.hp1 HG02922.hp2 HG01106.hp2 HG02717.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0323 a0001c0001t0002g0056 a0001c0001t0002g0129 a0001c0001t0001g0323 a0001c0001t0002g0056 a0001c0001t0002g0129	3	352	0.0085	39	c.31 others(50): Show c.3136_*3137insTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCC CTCCC		PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding					2653		chr11	TogoVar
PLCL1_chr2_197799593_198154863	197807408	G G	GGTAGTCT others(32): Show GGTAGTCTAAGGTCATTGTGATGAATAAACTAATCTTCAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(141): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0002c0002 a0002c0007 a0002c0008 a0002c0009	a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 others(48): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0001t0047 a0001c0003t0002 a0001c0003t0006 a0001c0003t0019 a0001c0003t0020 a0001c0003t0026 a0001c0003t0027 a0001c0003t0028 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0010 a0001c0004t0013 a0001c0004t0025 a0001c0004t0030 a0001c0004t0043 a0001c0005t0001 a0001c0005t0005 a0001c0005t0010 a0001c0005t0013 a0001c0005t0025 a0001c0006t0009 a0001c0006t0016 a0001c0006t0051 a0001c0010t0029 a0001c0011t0052 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0007t0001 a0002c0007t0005 a0002c0007t0006 a0002c0007t0009 a0002c0008t0001 a0002c0009t0008	a0001c0001t0005g0143 a0001c0001t0010g0204 a0001c0001t0020g0056 others(141): Show a0001c0001t0005g0143 a0001c0001t0010g0204 a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0047g0055 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0013 a0001c0003t0002g0016 a0001c0003t0002g0018 a0001c0003t0002g0023 a0001c0003t0002g0025 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0006g0010 a0001c0003t0006g0014 a0001c0003t0006g0015 a0001c0003t0006g0019 a0001c0003t0006g0021 a0001c0003t0006g0022 a0001c0003t0006g0024 a0001c0003t0006g0027 a0001c0003t0006g0043 a0001c0003t0006g0044 a0001c0003t0006g0045 a0001c0003t0019g0026 a0001c0003t0019g0030 a0001c0003t0019g0038 a0001c0003t0020g0002 a0001c0003t0026g0009 a0001c0003t0026g0020 a0001c0003t0027g0029 a0001c0003t0027g0032 a0001c0003t0028g0142 a0001c0003t0044g0051 a0001c0003t0045g0011 a0001c0003t0046g0005 a0001c0003t0048g0046 a0001c0003t0049g0004 a0001c0003t0050g0017 a0001c0004t0001g0119 a0001c0004t0001g0126 a0001c0004t0001g0134 a0001c0004t0003g0081 a0001c0004t0003g0128 a0001c0004t0005g0059 a0001c0004t0010g0047 a0001c0004t0013g0080 a0001c0004t0013g0095 a0001c0004t0025g0122 a0001c0004t0030g0061 a0001c0004t0043g0120 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0133 a0001c0005t0005g0062 a0001c0005t0010g0117 a0001c0005t0010g0118 a0001c0005t0010g0135 a0001c0005t0013g0068 a0001c0005t0025g0121 a0001c0006t0009g0050 a0001c0006t0016g0053 a0001c0006t0016g0141 a0001c0006t0016g0144 a0001c0006t0051g0054 a0001c0010t0029g0140 a0001c0011t0052g0052 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0139 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0087 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0099 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0123 a0002c0002t0005g0063 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0083 a0002c0002t0005g0094 a0002c0002t0005g0127 a0002c0002t0005g0129 a0002c0002t0005g0132 a0002c0002t0005g0136 a0002c0002t0008g0058 a0002c0002t0008g0076 a0002c0002t0008g0091 a0002c0002t0008g0111 a0002c0002t0008g0125 a0002c0002t0009g0116 a0002c0002t0009g0130 a0002c0002t0009g0131 a0002c0002t0011g0071 a0002c0002t0011g0088 a0002c0002t0011g0093 a0002c0002t0011g0100 a0002c0002t0011g0112 a0002c0002t0013g0108 a0002c0002t0031g0101 a0002c0002t0032g0124 a0002c0002t0033g0060 a0002c0007t0001g0048 a0002c0007t0005g0003 a0002c0007t0006g0012 a0002c0007t0009g0049 a0002c0008t0001g0075 a0002c0009t0008g0085	144	204	0.7059	39	c.240 others(56): Show c.240+2070_240+2071insTAGTCTAAGGTCATTGTGATGAATAAAC TAATCTTCAAG		PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD1_chrX_276381_308356	280536	G G	GGGGAGGC others(32): Show GGGGAGGCCGTGCAGGGGGAAGGGGGCCGTGCAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0079 a0001c0001t0025g0079	1	176	0.0057	39	c.-11 others(50): Show c.-1170_-1169insGGGAGGCCGTGCAGGGGGAAGGGGGCCGTGCAGG GGGAA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					844		chrX	TogoVar
PLD3_chr19_40343695_40383485	40377360	T T	TGGAGGAG others(32): Show TGGAGGAGGTACAGGGCAGAGGGGGTCAGGGGCTGGGATG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	364	0.0028	39	c.118 others(56): Show c.1186-424_1186-423insAGGAGGTACAGGGCAGAGGGGGTCAGGG GCTGGGATGGG		PLD3	ENSG00000105223.21	transcript	ENST00000409735.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEC_chr8_143910153_143978529	143973602	T T	TGCCCCAC others(32): Show TGCCCCACGGGCGGGGCGGGGCCGGGGCCGCCGCGGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0006 a0006	a0006c0152 a0006c0152	a0006c0152t0001 a0006c0152t0001	a0006c0152t0001g0210 a0006c0152t0001g0210	1	302	0.0033	39	c.-13 others(48): Show c.-131_-130insGGGGCCGCGGCGGCCCCGGCCCCGCCCCGCCCGTGG GGC		PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding					74		chr8	TogoVar
PLEK2_chr14_67381984_67417165	67399457	G G	GAATAGAG others(32): Show GAATAGAGAAGGGTCGTTTAGGTGGTTCTCAGGTGGCAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	354	0.0028	39	c.43- others(54): Show c.43-1632_43-1631insTCTGCCACCTGAGAACCACCTAAACGACCC TTCTCTATT		PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8						chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399578	G G	GAATAGAG others(32): Show GAATAGAGAAGGGTCATTTAGGTGGTTCTCAGGTGGCAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	354	0.0028	39	c.43- others(54): Show c.43-1753_43-1752insTCTGCCACCTGAGAACCACCTAAATGACCC TTCTCTATT		PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8						chr14	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02129.hp2 HG01978.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0093 a0001c0001t0009g0205 a0001c0001t0008g0093 a0001c0001t0009g0205	2	316	0.0063	39	c.228 others(54): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG4B_chr5_87168_194966	92426	C C	CCGGAGTA others(32): Show CCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0143 a0001c0007t0008g0143	1	210	0.0048	39	c.45+ others(52): Show c.45+150_45+151insCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19						chr5	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0115 a0003c0004t0002g0115	1	256	0.0039	39	c.-81 others(48): Show c.-815_-814insTATATATATATATATATATATATTTTTTTTTTTTTT TTT		PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding					691		chr2	TogoVar
PLG_chr6_160697244_160759097	160747675	G G	GATTTCAA others(32): Show GATTTCAAAGTGGCTTTCCTTTTCCTGTGCTTTTCCTACT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	384	0.0026	39	c.212 others(58): Show c.2126-4435_2126-4397dupCAAAGTGGCTTTCCTTTTCCTGTGCT TTTCCTACTATTT		PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(32): Show GAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0237 a0001c0008t0001g0237	1	384	0.0026	39	c.212 others(58): Show c.2126-3749_2126-3748insGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAA		PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	39	c.-24 others(50): Show c.-2481_-2480insAAAAAAAAAAAAAAAAAATATATATATATATATA TATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	39	c.-24 others(50): Show c.-2481_-2480insAAAAAAAAAAAAAAAATATATATATATATATATA TATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	384	0.0026	39	c.-24 others(50): Show c.-2481_-2480insAAAAAAAAAAAAAATATATATATATATATATATA TATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA18747.hp2 HG03834.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	384	0.0052	39	c.-24 others(50): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATATATATATATA TATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02129.hp2 HG02083.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0002 a0001c0001t0001g0005 a0001c0002t0001g0002	2	384	0.0052	39	c.-24 others(50): Show c.-2481_-2480insAAAAAAAAAATATATATATATATATATATATATA TATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	384	0.0026	39	c.-24 others(50): Show c.-2481_-2480insAAAAAATATATATATATATATATATATATATATA TATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(32): Show AAGAAAGAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	336	0.0030	39	c.140 others(58): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCCTTC TTTCTTTCTTTCT		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(32): Show AAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02602.hp2 others(3): Show HG00741.hp2 HG01884.hp2 HG02602.hp2 NA18612.hp2 NA18960.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0099 a0001c0001t0002g0032 a0001c0001t0002g0095 others(3): Show a0001c0001t0001g0099 a0001c0001t0002g0032 a0001c0001t0002g0095 a0001c0001t0002g0118 a0001c0001t0003g0332 a0001c0001t0004g0045	6	336	0.0179	39	c.140 others(58): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCTTTC CTTCTTTCTTTCT		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(32): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0073 a0001c0001t0014g0073	1	203	0.0049	39	c.-46 others(58): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAAGAAGAAG		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA19079.hp1 HG01891.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0307 a0001c0001t0013g0385 a0001c0001t0001g0307 a0001c0001t0013g0385	2	436	0.0046	39	c.-49 others(50): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					4935		chr19	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(32): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18612.hp1 NA18956.hp1 others(2): Show HG01256.hp1 NA18612.hp1 NA18956.hp1 NA18971.hp1 NA19009.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0009 a0002c0002 a0004c0006 others(1): Show a0001c0009 a0002c0002 a0004c0006 a0004c0008	a0001c0009t0009 a0002c0002t0034 a0004c0006t0012 others(2): Show a0001c0009t0009 a0002c0002t0034 a0004c0006t0012 a0004c0008t0001 a0004c0008t0088	a0001c0009t0009g0275 a0002c0002t0034g0308 a0004c0006t0012g0134 others(2): Show a0001c0009t0009g0275 a0002c0002t0034g0308 a0004c0006t0012g0134 a0004c0008t0001g0113 a0004c0008t0088g0216	5	312	0.0160	39	c.137 others(56): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAT		PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31						chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132132487	G G	GTTCTGTT others(32): Show GTTCTGTTCTGTTCTGCTCTGCTCTGCTCTATTCTTTCTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	88	0.0114	39	c.558 others(56): Show c.5589+561_5589+562insTAGAAAGAATAGAGCAGAGCAGAGCAGA ACAGAACAGAA		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31						chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307776	G G	GGGGAGGG others(32): Show GGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0291 a0002c0013t0003g0291	1	302	0.0033	39	c.-29 others(48): Show c.-298_-297insTCTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCT CCC		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding					131		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(32): Show GGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01884.hp2 HG02135.hp2 others(22): Show HG00099.hp2 HG01884.hp2 HG02135.hp2 HG02258.hp2 HG02300.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18982.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19030.hp2 NA19062.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0114 a0001c0001t0001g0117	25	330	0.0758	39	c.-45 others(50): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCACC		PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding					4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594375	C C	CGGTGGGG others(32): Show CGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	39	c.-45 others(50): Show c.-4571_-4570insCCTCCCCCACCCCCCCACCGCCTCCCCCACCCCC CCACC		PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding					4536		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(32): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	234	0.0043	39	c.234 others(56): Show c.2342+460_2342+461insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAC others(32): Show AAATATACATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0326 a0002c0001t0001g0326	1	408	0.0025	39	c.-95 others(48): Show c.-956_-955insATATATATATATATATATATATATATATATATGTAT ATT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(32): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	454	0.0022	39	c.-20 others(50): Show c.-2004_-2003insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAACA AAAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(32): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18969.hp2 NA19055.hp2 HG02080.hp2 NA18969.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0007t0003 a0001c0002t0003 a0001c0007t0003	a0001c0002t0003g0002 a0001c0007t0003g0023 a0001c0002t0003g0002 a0001c0007t0003g0023	3	454	0.0066	39	c.-20 others(50): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNMA8B_chr19_46486191_46500867	46497152	A A	ATGAAAGA others(32): Show ATGAAAGATGGCTAAGAGAAGTATTTGTTGAGAACTTACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	426	0.0024	39	c.-16 others(50): Show c.-1688_-1687insGGTAAGTTCTCAACAAATACTTCTCTTAGCCATC TTTCA		PNMA8B	ENSG00000204851.7	transcript	ENST00000599531.2	protein_coding					1286		chr19	TogoVar
PNRC2_chr1_23954828_23968462	23958112	T T	TTTCATAC others(32): Show TTTCATACAAAAAAAAAACAAAACAAAAAAAAAAAAACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	39	c.-21 others(50): Show c.-2111_-2110insTTCATACAAAAAAAAAACAAAACAAAAAAAAAAA AACCA		PNRC2	ENSG00000189266.13	transcript	ENST00000334351.8	protein_coding					1715		chr1	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0019 a0009c0018t0019	a0009c0018t0019g0024 a0009c0018t0019g0024	1	440	0.0023	39	c.-21 others(50): Show c.-2120_-2119insATATATATATATATATATATATATATATATATAT ATATA		PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding					1851		chr7	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	340	0.0029	39	c.438 others(54): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10						chr17	TogoVar
POLR1G_chr19_45401644_45415737	45409044	C C	CCCGATGG others(32): Show CCCGATGGAGCCAGTGGAGCCGGAGATGAAGCCTCTGAGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG02273.hp1 HG02273.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0064 a0011c0013t0064	a0011c0013t0064g0002 a0011c0013t0064g0002	1	406	0.0025	39	c.107 others(48): Show c.1078_1079insGATGGAGCCAGTGGAGCCGGAGATGAAGCCTCTGAG TCC	p.Ser others(52): Show p.Ser359_Pro360insArgTrpSerGlnTrpSerArgArgTerSerLe uTerVal	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1132/2822	1079/1533	360/510		INFO_REALIGN_3_PRIME	chr19	TogoVar

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Search Results (Total: 3425 hits)