Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPIAL4H_chr1_146339006_146349765	146345054	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02896.hp1 HG02055.hp1 HG02622.hp1 HG02896.hp1	a0006 a0012 a0006 a0012	a0006c0007 a0012c0008 a0006c0007 a0012c0008	a0006c0007t0003 a0012c0008t0003 a0006c0007t0003 a0012c0008t0003	a0006c0007t0003g0000 a0012c0008t0003g0000 a0006c0007t0003g0000 a0012c0008t0003g0000	3	416	0.0072	-33	c.-37 others(42): Show c.-372_-340delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding		290		chr1	TogoVar
PPM1E_chr17_58750854_58990179	58816759	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0118 a0001c0001t0010g0118	1	312	0.0032	-33	c.464 others(52): Show c.464+60299_464+60331delATATATATATATATATATATATATAT ATATATA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6			chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816761	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18906.hp2 NA19240.hp1 HG01106.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0282 a0001c0001t0010g0117 a0001c0001t0010g0119 a0001c0001t0003g0282 a0001c0001t0010g0117 a0001c0001t0010g0119	3	312	0.0096	-33	c.464 others(52): Show c.464+60301_464+60333delATATATATATATATATATATATATAT ATATATA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6			chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816762	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01978.hp1 others(11): Show HG00438.hp1 HG00642.hp2 HG01978.hp1 HG02027.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18945.hp1 NA18993.hp1 NA19007.hp1 NA19055.hp1 NA19063.hp1 NA20805.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0003 a0001c0001t0009 a0005c0009t0003 a0001c0001t0003 a0001c0001t0009 a0005c0009t0003	a0001c0001t0003g0238 a0001c0001t0003g0253 a0001c0001t0003g0280 others(11): Show a0001c0001t0003g0238 a0001c0001t0003g0253 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0293 a0001c0001t0003g0296 a0001c0001t0009g0149 a0001c0001t0009g0151 a0001c0001t0009g0152 a0005c0009t0003g0285	14	312	0.0449	-33	c.464 others(52): Show c.464+60303_464+60335delATATATATATATATATATATATATAT ATATATT	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816764	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00741.hp2 others(30): Show HG00099.hp2 HG00280.hp1 HG00741.hp2 HG01099.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02071.hp2 HG02922.hp2 HG03017.hp1 HG03139.hp1 HG03654.hp1 HG03688.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18978.hp2 NA18979.hp2 NA18998.hp1 NA19000.hp1 NA19010.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0295 a0001c0001t0003g0237 a0001c0001t0003g0246 others(30): Show a0001c0001t0001g0295 a0001c0001t0003g0237 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0307 a0001c0001t0003g0312 a0001c0001t0009g0150 a0001c0001t0012g0251	33	312	0.1058	-33	c.464 others(52): Show c.464+60305_464+60337delATATATATATATATATATATATATAT ATATTTT	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816766	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp2 NA18952.hp2 others(1): Show HG00733.hp1 HG01192.hp2 NA18952.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0267 a0001c0001t0003g0268 others(1): Show a0001c0001t0003g0255 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0278	4	312	0.0128	-33	c.464 others(52): Show c.464+60307_464+60339delATATATATATATATATATATATATAT ATTTTTT	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP1R16A_chr8_144472982_144507121	144482480	TGGGTTTA others(26): Show TGGGTTTAAGCAGTTCTCCCTGCCTCAACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	356	0.0028	-33	c.-91 others(52): Show c.-914+4398_-914+4430delGTTCTCCCTGCCTCAACCTCCCGGGT TTAAGCA	PPP1R16A	ENSG00000160972.10	transcript	ENST00000435887.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP1R16B_chr20_38800697_38928024	38896043	TTTTCTCC others(26): Show TTTTCTCCCTTCCTCCCTTCCTTTCTTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG02559.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0243 a0001c0001t0008g0244 a0001c0001t0008g0243 a0001c0001t0008g0244	2	244	0.0082	-33	c.467 others(48): Show c.467+336_467+368delTCTCCCTTCCTCCCTTCCTTTCTTCCCTCC CTT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP2R2C_chr4_6315581_6477614	6353775	AACACCGA others(26): Show AACACCGACAGCCCCACACACCAACAGCGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0296	1	298	0.0034	-33	c.626 others(50): Show c.626-5798_626-5766delGGGGGCGCTGTTGGTGTGTGGGGCTGTC GGTGT	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131953703	TGTGTGGG others(26): Show TGTGTGGGGGGGTCACTGTCTTAGTGACTTGCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(144): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(55): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0003t0043 a0001c0005t0018 a0003c0004t0113	a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 others(135): Show a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0164 a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0113 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0135 a0001c0001t0006g0202 a0001c0001t0006g0347 a0001c0001t0008g0011 a0001c0001t0008g0035 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0010g0004 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0010g0168 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0013g0062 a0001c0001t0013g0161 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0017g0013 a0001c0001t0017g0133 a0001c0001t0017g0257 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0033g0090 a0001c0001t0033g0134 a0001c0001t0034g0018 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0038g0121 a0001c0001t0039g0097 a0001c0001t0040g0193 a0001c0001t0041g0266 a0001c0001t0042g0159 a0001c0001t0065g0092 a0001c0001t0066g0172 a0001c0001t0067g0167 a0001c0001t0068g0036 a0001c0001t0069g0012 a0001c0001t0070g0061 a0001c0001t0071g0052 a0001c0001t0072g0137 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0086g0122 a0001c0001t0087g0139 a0001c0001t0089g0086 a0001c0001t0091g0166 a0001c0001t0092g0053 a0001c0001t0093g0165 a0001c0001t0095g0114 a0001c0001t0096g0056 a0001c0001t0097g0001 a0001c0001t0098g0096 a0001c0001t0099g0003 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0102g0145 a0001c0001t0103g0108 a0001c0001t0104g0001 a0001c0001t0105g0013 a0001c0001t0106g0087 a0001c0001t0107g0079 a0001c0001t0108g0131 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0003t0043g0170 a0001c0005t0018g0255 a0003c0004t0113g0103	147	394	0.3731	-33	c.108 others(52): Show c.1083-1975_1083-1943delGGGGGGTCACTGTCTTAGTGACTTGC TGGTGTG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101886427	CTGTGTGC others(26): Show CTGTGTGCATGCTTTTGATAGTCTTTTCTGTAAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp2 HG03453.hp1 others(1): Show HG02717.hp1 HG02886.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0020 a0001c0001t0002 a0001c0003t0002 a0001c0003t0020	a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0003t0002g0128 others(1): Show a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0003t0002g0128 a0001c0003t0020g0008	4	138	0.0290	-33	c.794 others(50): Show c.794+2968_794+3000delGTGCATGCTTTTGATAGTCTTTTCTGTA ATTGT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106433	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0057 a0001c0001t0049g0057	1	192	0.0052	-33	c.384 others(50): Show c.384+2488_384+2520delTCTTTTCTTTTCTCTTTCTTTCTTTCTT TCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP5C_chr19_46342087_46395975	46389361	AAACACAC others(26): Show AAACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	394	0.0025	-33	c.135 others(50): Show c.1355+632_1356-656delACACACACACACACACACACACACACAC ACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389426	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp1 NA19240.hp2 HG02257.hp1 HG03041.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0006g0200 a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0006g0200	3	394	0.0076	-33	c.135 others(50): Show c.1356-624_1356-592delACACACACACACACACACACACACACAC ACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12			chr19	TogoVar
PQBP1_chrX_48892930_48908143	48901470	GGAAGACT others(26): Show GGAAGACTGTCTTTTCTCTCTTTTTTGAAACGGA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	307	0.0033	-33	c.179 others(48): Show c.179+171_179+203delAAGACTGTCTTTTCTCTCTTTTTTGAAACG GAG	PQBP1	ENSG00000102103.18	transcript	ENST00000447146.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRAMEF19_chr1_13363431_13376947	13376314	CAAATAAA others(26): Show CAAATAAATAAATAAATAAATAAAGATAAAATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	450	0.0022	-33	c.-44 others(44): Show c.-4447_-4415delACATTTTATCTTTATTTATTTATTTATTTATTT	PRAMEF19	ENSG00000204480.9	transcript	ENST00000376101.4	protein_coding		4368		chr1	TogoVar
PRAP1_chr10_133342373_133357683	133350927	TGGGCTCA others(26): Show TGGGCTCAGAGCAGCTGACAACTAAGGTTAGCTG	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	388	0.0026	-33	c.76- others(46): Show c.76-451_76-419delGCTCAGAGCAGCTGACAACTAAGGTTAGCTGG G	PRAP1	ENSG00000165828.15	transcript	ENST00000433452.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM15_chr21_41793225_41884344	41806078	TCACCACC others(26): Show TCACCACCACCACCATCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG03041.hp2 HG02615.hp1 HG02818.hp1 HG03041.hp2	a0001 a0001	a0001c0014 a0001c0037 a0001c0014 a0001c0037	a0001c0014t0003 a0001c0037t0003 a0001c0014t0003 a0001c0037t0003	a0001c0014t0003g0123 a0001c0014t0003g0346 a0001c0037t0003g0007 a0001c0014t0003g0123 a0001c0014t0003g0346 a0001c0037t0003g0007	3	406	0.0074	-33	c.265 others(52): Show c.2653-1497_2653-1465delGTGGTGATGGTGGTGGTGATGGTGGT GGTGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41844731	CACACACA others(26): Show CACACACACACAGAGTCCCTTCCCCCTCACAGGG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	406	0.0025	-33	c.640 others(50): Show c.640+2326_640+2358delCCCTGTGAGGGGGAAGGGACTCTGTGTG TGTGT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41855926	CCCTCCCT others(26): Show CCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00673.hp1 others(9): Show HG00438.hp2 HG00544.hp1 HG00673.hp1 HG03471.hp2 NA18943.hp2 NA18948.hp1 NA18966.hp1 NA18980.hp1 NA18994.hp1 NA19004.hp2 NA19009.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0008 others(2): Show a0001c0002 a0001c0004 a0001c0008 a0001c0018 a0002c0007	a0001c0002t0002 a0001c0004t0003 a0001c0008t0001 others(2): Show a0001c0002t0002 a0001c0004t0003 a0001c0008t0001 a0001c0018t0025 a0002c0007t0005	a0001c0002t0002g0257 a0001c0004t0003g0004 a0001c0004t0003g0241 others(9): Show a0001c0002t0002g0257 a0001c0004t0003g0004 a0001c0004t0003g0241 a0001c0004t0003g0294 a0001c0004t0003g0355 a0001c0004t0003g0359 a0001c0004t0003g0360 a0001c0004t0003g0367 a0001c0004t0003g0373 a0001c0008t0001g0178 a0001c0018t0025g0059 a0002c0007t0005g0124	12	406	0.0296	-33	c.286 others(50): Show c.286-1141_286-1109delAGGGAGGGAGGGAAGGAAAGGAAGGAAG GGAGG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3240034	GGAGAAGA others(26): Show GGAGAAGAGGAGAGGAGAGGAGAAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01106.hp1 others(6): Show HG00408.hp1 HG01081.hp1 HG01106.hp1 HG02258.hp1 HG02698.hp1 HG02976.hp2 HG03516.hp1 HG03669.hp1 NA18939.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0009c0028	a0001c0001t0083 a0001c0002t0001 a0001c0002t0003 others(6): Show a0001c0001t0083 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0017 a0001c0004t0055 a0002c0003t0006 a0002c0003t0013 a0009c0028t0015	a0001c0001t0083g0027 a0001c0002t0001g0080 a0001c0002t0003g0144 others(6): Show a0001c0001t0083g0027 a0001c0002t0001g0080 a0001c0002t0003g0144 a0001c0002t0005g0152 a0001c0002t0017g0202 a0001c0004t0055g0004 a0002c0003t0006g0066 a0002c0003t0013g0137 a0009c0028t0015g0209	9	210	0.0429	-33	c.388 others(50): Show c.388-4049_388-4017delAAGAGGAGAGGAGAGGAGAAGAGGAGAG GAGAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3294114	TACCTAGA others(26): Show TACCTAGAACCTGCCTACCAGGTAAACAGGCGAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	210	0.0048	-33	c.438 others(52): Show c.438+50041_438+50073delGAAACCTAGAACCTGCCTACCAGGTA AACAGGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3361801	TCCAGGAG others(26): Show TCCAGGAGGGCAGGTGGTGAGAAGTGACTGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03669.hp2 HG03834.hp2 others(1): Show HG02602.hp2 HG03669.hp2 HG03834.hp2 NA18612.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0027 a0001c0001 a0008c0027	a0001c0001t0001 a0001c0001t0018 a0001c0001t0070 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0070 a0008c0027t0078	a0001c0001t0001g0158 a0001c0001t0018g0164 a0001c0001t0070g0100 others(1): Show a0001c0001t0001g0158 a0001c0001t0018g0164 a0001c0001t0070g0100 a0008c0027t0078g0082	4	210	0.0191	-33	c.439 others(52): Show c.439-23308_439-23276delCAGGTGGTGAGAAGTGACTGTGGCCC AGGAGGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM2_chr1_13695188_13830079	13806224	CTCCCCCG others(26): Show CTCCCCCGCATCCCGCCTCCATCCCTGGGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01243.hp1 others(21): Show HG00544.hp2 HG00621.hp2 HG01243.hp1 HG02257.hp1 HG02622.hp2 HG02630.hp2 HG02738.hp1 HG02809.hp2 HG03041.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18950.hp1 NA18969.hp1 NA18973.hp2 NA18983.hp2 NA18988.hp1 NA19081.hp1 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0030 a0002c0002 others(5): Show a0001c0001 a0001c0030 a0002c0002 a0002c0007 a0003c0003 a0004c0009 a0004c0011 a0005c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0030t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0002c0007t0029 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0010 a0004c0009t0007 a0004c0009t0023 a0004c0011t0021 a0005c0006t0007 a0005c0006t0015	a0001c0001t0001g0217 a0001c0001t0005g0166 a0001c0001t0005g0167 others(21): Show a0001c0001t0001g0217 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0007g0148 a0001c0001t0007g0280 a0001c0001t0010g0202 a0001c0001t0015g0244 a0001c0030t0001g0161 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0005g0011 a0002c0002t0005g0013 a0002c0002t0010g0053 a0002c0007t0029g0132 a0003c0003t0001g0171 a0003c0003t0002g0180 a0003c0003t0005g0261 a0003c0003t0010g0241 a0004c0009t0007g0118 a0004c0009t0007g0120 a0004c0009t0023g0119 a0004c0011t0021g0311 a0005c0006t0007g0097 a0005c0006t0015g0009	24	324	0.0741	-33	c.503 others(54): Show c.5037-10164_5037-10132delCGCATCCCGCCTCCATCCCTGGGC TCTGTCCCC	PRDM2	ENSG00000116731.23	transcript	ENST00000311066.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRG4_chr1_186291279_186319567	186319242	GCCTCCCA others(26): Show GCCTCCCAAAGTTCTGGGATTACAAGTGTGAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	428	0.0023	-33	c.54 others(44): Show c.5465_*5497delCCTCCCAAAGTTCTGGGATTACAAGTGTGAGCC	PRG4	ENSG00000116690.13	transcript	ENST00000445192.7	protein_coding		4676		chr1	TogoVar
PRKAA1_chr5_40754389_40803374	40800812	AGATGAGG others(26): Show AGATGAGGGGCGCCTCTGCCCGGCCGCCCCTACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	402	0.0025	-33	c.-26 others(44): Show c.-2656_-2624delAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCATC	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2439		chr5	TogoVar
PRKCA_chr17_66297613_66815743	66562106	TTATATAT others(26): Show TTATATATATAATTAAATATATATAATTAAATTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0039 a0001c0005t0039	a0001c0005t0039g0108 a0001c0005t0039g0108	1	178	0.0056	-33	c.288 others(52): Show c.288+65832_288+65864delTAATTAAATATATATAATTAAATTAT ATATATA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798507	TGACGGTG others(26): Show TGACGGTGGTGACGGTGGTGGTGATGGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0095 a0001c0001t0068g0095	1	178	0.0056	-33	c.185 others(52): Show c.1855-5364_1855-5332delACGGTGGTGACGGTGGTGGTGATGGT GGTGACG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCE_chr2_45646675_46192990	45744475	TTCTTTCT others(26): Show TTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	168	0.0060	-33	c.348 others(52): Show c.348+92029_348+92061delCTTTCTTTCTTTTTCTTTCTTTCTTT TCTTTCT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45744479	TTCTTTCT others(26): Show TTCTTTCTTTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 NA18906.hp2 HG02818.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0001c0001t0007 a0001c0001t0010 a0001c0001t0025	a0001c0001t0007g0096 a0001c0001t0010g0098 a0001c0001t0025g0024 a0001c0001t0007g0096 a0001c0001t0010g0098 a0001c0001t0025g0024	3	168	0.0179	-33	c.348 others(52): Show c.348+92033_348+92065delCTTTCTTTTTCTTTCTTTCTTTTCTT TCTTTCT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53878635	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18954.hp2 NA19087.hp2 HG00544.hp2 NA18954.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0009t0001g0184 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0009t0001g0184	3	362	0.0083	-33	c.-38 others(44): Show c.-3859_-3827delAAAAAAAAAAAAAAAATATATATATATATATAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3561		chr19	TogoVar
PRKCG_chr19_53877197_53912652	53878637	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	362	0.0028	-33	c.-38 others(44): Show c.-3857_-3825delAAAAAAAAAAAAAATATATATATATATATATAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3559		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2122448	GGCGGTGG others(26): Show GGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	286	0.0035	-33	c.335 others(52): Show c.335-12812_335-12780delCGGTGGTTAGGGTCGTGGCGGTGGTT AGGGTTG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122550	CACGGTGG others(26): Show CACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG02055.hp1 others(1): Show HG01123.hp2 HG01192.hp2 HG02055.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0003t0004 a0001c0002t0001 a0001c0003t0003 a0001c0003t0004	a0001c0002t0001g0221 a0001c0003t0003g0193 a0001c0003t0003g0199 others(1): Show a0001c0002t0001g0221 a0001c0003t0003g0193 a0001c0003t0003g0199 a0001c0003t0004g0129	4	286	0.0140	-33	c.335 others(52): Show c.335-12711_335-12679delACGGTGGTGGTTAGGGTCGTGGTGGT TAGGGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123016	CGGTGGTT others(26): Show CGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0232 a0001c0003t0003g0232	1	286	0.0035	-33	c.335 others(52): Show c.335-12235_335-12203delTTCATGGTGGTGGTTAGGGTCGTGGT GGTTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123238	GGCGGTGG others(26): Show GGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0200 a0001c0003t0003g0200	1	286	0.0035	-33	c.335 others(52): Show c.335-12022_335-11990delCGGTGGTTAGGTTCATGGTGGTGGTT AGGGTCG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123340	CACGGTGG others(26): Show CACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp1 HG02129.hp1 others(7): Show HG00408.hp2 HG02027.hp1 HG02129.hp1 HG02148.hp1 HG02602.hp2 HG04184.hp1 NA18612.hp1 NA19003.hp1 NA19010.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0066 a0001c0002t0001g0217 a0001c0002t0001g0222 others(7): Show a0001c0001t0001g0066 a0001c0002t0001g0217 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0284 a0001c0002t0004g0215 a0001c0003t0001g0115	10	286	0.0350	-33	c.335 others(52): Show c.335-11921_335-11889delACGGTGGTGGTTAGGGTCGTGGTGGT TAGGGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123766	GGTGGTGG others(26): Show GGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp1 HG01069.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0001t0013 a0001c0002t0001	a0001c0001t0013g0151 a0001c0002t0001g0247 a0001c0001t0013g0151 a0001c0002t0001g0247	2	286	0.0070	-33	c.335 others(52): Show c.335-11480_335-11448delGTGGCGGTGGTTAGGGTTGTGGTGGT TAGGGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123840	TGGTTAGG others(26): Show TGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	286	0.0035	-33	c.335 others(52): Show c.335-11412_335-11380delTGTGGTGGTTAGGGTCACGGTGGCGG TTAGGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123858	TTAGGGTC others(26): Show TTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	286	0.0035	-33	c.335 others(52): Show c.335-11403_335-11371delTAGGGTCACGGTGGCGGTTAGGGTCA CGGCGGC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG2_chr4_81082375_81220222	81214704	CAAGTAGC others(26): Show CAAGTAGCCTTTCCCTGCCTCCAGGAGCTCACGA	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	250	0.0040	-33	c.-14 others(48): Show c.-14+199_-14+231delTCGTGAGCTCCTGGAGGCAGGGAAAGGCTA CTT	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	1/18			chr4	TogoVar
PRKN_chr6_161342417_162732766	161573742	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01192.hp2 HG01361.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0002c0002t0001g0016 a0001c0001t0001g0017 a0002c0002t0001g0016	2	32	0.0625	-33	c.872 others(50): Show c.872-4359_872-4327delATATATATATATATATATATTTTTTTTT TTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161573744	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	-33	c.872 others(50): Show c.872-4361_872-4329delATATATATATATATATATATATTTTTTT TTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161573746	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0018 a0002c0007t0013g0018	1	32	0.0313	-33	c.872 others(50): Show c.872-4363_872-4331delATATATATATATATATATATATATTTTT TTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRMT3_chr11_20382716_20514338	20506453	CTATTATT others(26): Show CTATTATTTAACTCCTTAATTATGTGTTAAACTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG01123.hp1 others(44): Show HG00544.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02300.hp1 HG02523.hp1 HG03834.hp2 HG03942.hp2 NA18612.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp1 NA18972.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0002 a0001c0001t0006 a0008c0010t0002 a0001c0001t0002 a0001c0001t0006 a0008c0010t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 others(44): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0168 a0001c0001t0006g0019 a0008c0010t0002g0014	47	380	0.1237	-33	c.148 others(52): Show c.1487-1849_1487-1817delATTATTTAACTCCTTAATTATGTGTT AAACTGT	PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT8_chr12_3486203_3598973	3576544	AAGGAAGA others(26): Show AAGGAAGAGTCAGCTAGCCTGGGTTCTAGTCTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0343 a0001c0001t0014g0002 a0001c0001t0001g0343 a0001c0001t0014g0002	2	364	0.0055	-33	c.713 others(48): Show c.713-326_713-294delAGGAAGAGTCAGCTAGCCTGGGTTCTAGTC TTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	6/9			chr12	TogoVar
PROK1_chr1_110446149_110462358	110458039	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01361.hp1 NA18967.hp2 others(6): Show HG00609.hp1 HG01361.hp1 NA18967.hp2 NA18981.hp2 NA19009.hp1 NA19012.hp2 NA19066.hp1 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	9	456	0.0197	-33	c.16 others(44): Show c.1689_*1721delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PROK1	ENSG00000143125.6	transcript	ENST00000271331.4	protein_coding		682		chr1	TogoVar
PRORP_chr14_35117552_35282622	35191844	TCCAGTAG others(26): Show TCCAGTAGACTGACAAGTTTTCTTGGTTTTAACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG01884.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0212 a0001c0002t0003g0213 others(1): Show a0001c0002t0003g0004 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214	4	314	0.0127	-33	c.127 others(54): Show c.1275+11136_1275+11168delAGTAGACTGACAAGTTTTCTTGGT TTTAACCCC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PROSER2_chr10_11818356_11877277	11840940	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0246 a0001c0001t0023g0246	1	348	0.0029	-33	c.-81 others(52): Show c.-81-11055_-81-11023delAAAAAAAAAAAAAAATATATATATAT ATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840942	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0335 a0003c0006t0010g0335	1	348	0.0029	-33	c.-81 others(52): Show c.-81-11053_-81-11021delAAAAAAAAAAAAATATATATATATAT ATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 2438 hits)