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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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
PTBP3_chr9_112213435_112338619	112232025	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	342	0.0029	31	c.102 others(46): Show c.1020+73_1020+74insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19002.hp1 NA18956.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0178 a0001c0001t0019g0177 a0001c0001t0002g0178 a0001c0001t0019g0177	2	342	0.0059	31	c.802 others(48): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	342	0.0029	31	c.-52 others(50): Show c.-52+13155_-52+13156insAAATATATATATATATATATATATAT ATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(24): Show ATATATATATATATATATATATGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0224 a0001c0003t0003g0233 a0001c0003t0003g0224 a0001c0003t0003g0233	2	380	0.0053	31	c.-20 others(42): Show c.-2010_-2009insAAAAAAAAACATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0148 a0001c0005t0001g0148	1	370	0.0027	31	c.813 others(46): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18943.hp1 HG02132.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0220 a0001c0001t0001g0118 a0001c0001t0001g0220	2	372	0.0054	31	c.3-1 others(44): Show c.3-1761_3-1760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	420	0.0024	31	c.349 others(46): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19000.hp2 HG02300.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0001 a0001c0001t0003 a0002c0005t0001	a0001c0001t0003g0072 a0002c0005t0001g0026 a0001c0001t0003g0072 a0002c0005t0001g0026	2	328	0.0061	31	c.-38 others(50): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAATAT ATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	272	0.0037	31	c.272 others(50): Show c.2722-1452_2722-1451insATATATATATATATATATATATTTTT TTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	272	0.0037	31	c.272 others(50): Show c.2722-1452_2722-1451insATATATATATATATATATATTTTTTT TTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19030.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0097 a0001c0001t0001g0118 a0001c0001t0002g0097	2	296	0.0068	31	c.-1- others(48): Show c.-1-25726_-1-25725insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A2_chr1_31901421_31943368	31916345	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01081.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0005 a0001c0001t0030g0005	2	354	0.0057	31	c.97- others(44): Show c.97-359_97-358insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	2/5			chr1	TogoVar
PTPN12_chr7_77532295_77645069	77594303	A A	AAAAACGT others(24): Show AAAAACGTTAAAAATCCCACTGCATTTCCTTT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	310	0.0032	31	c.492 others(48): Show c.492+2048_492+2078dupAAAACGTTAAAAATCCCACTGCATTTCC TTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN14_chr1_214343700_214556602	214490909	G G	GGAGGGGA others(24): Show GGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(58): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00558.hp2 HG00642.hp2 HG00738.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01981.hp1 HG02027.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03654.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18955.hp2 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19054.hp2 NA19065.hp2 NA19074.hp2 NA19081.hp2 NA19087.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0019 others(8): Show a0001c0001 a0001c0002 a0001c0019 a0001c0022 a0002c0003 a0003c0005 a0004c0004 a0005c0007 a0007c0012 a0008c0009 a0010c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(50): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0049 a0001c0001t0057 a0001c0001t0061 a0001c0001t0068 a0001c0001t0071 a0001c0001t0123 a0001c0001t0125 a0001c0001t0130 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0150 a0001c0001t0161 a0001c0001t0163 a0001c0001t0177 a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0080 a0001c0002t0083 a0001c0002t0143 a0001c0002t0144 a0001c0019t0146 a0001c0022t0167 a0002c0003t0086 a0002c0003t0147 a0002c0003t0182 a0003c0005t0063 a0004c0004t0005 a0004c0004t0070 a0004c0004t0073 a0004c0004t0075 a0004c0004t0175 a0005c0007t0029 a0007c0012t0005 a0008c0009t0033 a0008c0009t0034 a0010c0013t0035	a0001c0001t0002g0101 a0001c0001t0002g0147 a0001c0001t0003g0074 others(58): Show a0001c0001t0002g0101 a0001c0001t0002g0147 a0001c0001t0003g0074 a0001c0001t0003g0102 a0001c0001t0003g0166 a0001c0001t0003g0172 a0001c0001t0004g0039 a0001c0001t0005g0100 a0001c0001t0005g0171 a0001c0001t0009g0058 a0001c0001t0010g0079 a0001c0001t0011g0123 a0001c0001t0014g0031 a0001c0001t0018g0175 a0001c0001t0024g0233 a0001c0001t0025g0207 a0001c0001t0041g0042 a0001c0001t0042g0033 a0001c0001t0045g0021 a0001c0001t0049g0167 a0001c0001t0057g0028 a0001c0001t0061g0124 a0001c0001t0068g0151 a0001c0001t0071g0121 a0001c0001t0123g0227 a0001c0001t0125g0226 a0001c0001t0130g0218 a0001c0001t0133g0205 a0001c0001t0134g0235 a0001c0001t0136g0200 a0001c0001t0150g0195 a0001c0001t0161g0259 a0001c0001t0163g0258 a0001c0001t0177g0271 a0001c0002t0001g0150 a0001c0002t0012g0022 a0001c0002t0012g0034 a0001c0002t0013g0204 a0001c0002t0020g0057 a0001c0002t0020g0153 a0001c0002t0080g0023 a0001c0002t0083g0146 a0001c0002t0143g0191 a0001c0002t0144g0231 a0001c0019t0146g0212 a0001c0022t0167g0248 a0002c0003t0086g0026 a0002c0003t0147g0197 a0002c0003t0182g0270 a0003c0005t0063g0122 a0004c0004t0005g0081 a0004c0004t0070g0008 a0004c0004t0073g0007 a0004c0004t0075g0082 a0004c0004t0175g0269 a0005c0007t0029g0244 a0005c0007t0029g0245 a0007c0012t0005g0149 a0008c0009t0033g0157 a0008c0009t0034g0084 a0010c0013t0035g0181	61	272	0.2243	31	c.-15 others(52): Show c.-154-25953_-154-25952insTCCCTCCCCTCCCCTTCCCTCCCC TCCCCTC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	272	0.0037	31	c.-15 others(52): Show c.-155+31117_-155+31118insATATATATATATATATATTTTTTT TTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	272	0.0037	31	c.-15 others(52): Show c.-155+31117_-155+31118insATATATATATATATATATATTTTT TTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18972.hp1 HG02135.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0105 a0001c0001t0017g0189 a0001c0001t0002g0105 a0001c0001t0017g0189	2	272	0.0074	31	c.-15 others(52): Show c.-155+31117_-155+31118insATATATATATATATATATATATAT TTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361554	C C	CTCTTTCT others(24): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0105 a0002c0003t0018g0105	1	380	0.0026	31	c.414 others(48): Show c.414+1909_414+1910insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	336	0.0030	31	c.63+ others(48): Show c.63+14004_63+14005insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(24): Show ATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18985.hp2 NA19090.hp2 NA18747.hp1 NA18985.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0304 a0001c0001t0001g0316 a0001c0001t0001g0209 a0001c0001t0001g0304 a0001c0001t0001g0316	3	336	0.0089	31	c.64- others(46): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0238 a0001c0001t0010g0238	1	370	0.0027	31	c.859 others(48): Show c.859-5436_859-5435insATATATATATATATATATTTTTTTTTTT TTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	326	0.0031	31	c.64- others(48): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRCAP_chr11_67430510_67442682	67439841	A A	AACCTGGG others(24): Show AACCTGGGGATGCAAGGAGGAGCCACGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	378	0.0027	31	c.-22 others(42): Show c.-2253_-2223dupCCACCCGTGGCTCCTCCTTGCATCCCCAGGT	PTPRCAP	ENSG00000213402.3	transcript	ENST00000326294.4	protein_coding		2160		chr11	TogoVar
PTPRD_chr9_8309246_10618002	9328618	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0010 a0001c0002t0015g0010	1	34	0.0294	31	c.-20 others(52): Show c.-203+68800_-203+68830dupAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998129	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	34	0.0294	31	c.-47 others(52): Show c.-472+35588_-472+35589insATATATATATATATATATATATAT ATATATT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAACAAAA others(24): Show CAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	34	0.0294	31	c.-60 others(54): Show c.-600+108282_-600+108283insTTTTTTTTTTTTTTTTTTTTTT TTTTTTGTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 NA19030.hp2 others(1): Show HG00735.hp1 HG00735.hp2 NA19030.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0007 a0001c0001 a0001c0005 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0005t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0017 a0006c0007t0004	a0001c0001t0001g0057 a0001c0001t0002g0089 a0001c0005t0017g0038 others(1): Show a0001c0001t0001g0057 a0001c0001t0002g0089 a0001c0005t0017g0038 a0006c0007t0004g0031	4	94	0.0426	31	c.376 others(46): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRO_chr12_15317508_15603331	15525337	A A	AAATACGC others(24): Show AAATACGCTTTTGGATGTTTATTGATAAGGGG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	164	0.0061	31	c.204 others(48): Show c.2043+374_2043+404dupATACGCTTTTGGATGTTTATTGATAAGG GGA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558118	T T	TCCTTTCC others(24): Show TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0093 a0009c0017t0002g0093	1	178	0.0056	31	c.428 others(50): Show c.4285+8385_4285+8386insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCC	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRS_chr19_5200508_5345812	5303952	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATAAAAAAAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02280.hp2 others(9): Show HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0017 a0001c0019 others(5): Show a0001c0006 a0001c0017 a0001c0019 a0001c0034 a0001c0035 a0001c0040 a0001c0049 a0001c0057	a0001c0006t0001 a0001c0006t0007 a0001c0006t0011 others(7): Show a0001c0006t0001 a0001c0006t0007 a0001c0006t0011 a0001c0017t0012 a0001c0019t0011 a0001c0034t0007 a0001c0035t0044 a0001c0040t0012 a0001c0049t0003 a0001c0057t0001	a0001c0006t0001g0018 a0001c0006t0007g0014 a0001c0006t0007g0247 others(9): Show a0001c0006t0001g0018 a0001c0006t0007g0014 a0001c0006t0007g0247 a0001c0006t0011g0217 a0001c0017t0012g0145 a0001c0019t0011g0017 a0001c0019t0011g0044 a0001c0034t0007g0069 a0001c0035t0044g0045 a0001c0040t0012g0141 a0001c0049t0003g0016 a0001c0057t0001g0248	12	276	0.0435	31	c.-94 others(50): Show c.-94-17719_-94-17718insATTTTATTTTTTTTTTATTTTTTTTT TTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5303954	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG06807.hp1 others(3): Show HG02559.hp1 HG03130.hp1 HG06807.hp1 NA19043.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 others(3): Show a0001c0001 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0053	a0001c0001t0002 a0001c0009t0010 a0001c0011t0005 others(3): Show a0001c0001t0002 a0001c0009t0010 a0001c0011t0005 a0001c0014t0001 a0001c0015t0027 a0001c0053t0008	a0001c0001t0002g0149 a0001c0009t0010g0057 a0001c0011t0005g0035 others(3): Show a0001c0001t0002g0149 a0001c0009t0010g0057 a0001c0011t0005g0035 a0001c0014t0001g0144 a0001c0015t0027g0032 a0001c0053t0008g0136	6	276	0.0217	31	c.-94 others(50): Show c.-94-17721_-94-17720insATTATTTTTTTTTTTTTTATTTTTTT TTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42086751	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	62	0.0161	31	c.384 others(48): Show c.3847-899_3847-898insATATATATATATATATATATATATATAT ATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122023726	T T	TATGTATA others(24): Show TATGTATAATTTTATATATAATTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00639.hp2 others(60): Show HG00280.hp1 HG00544.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03669.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18942.hp1 NA18946.hp1 NA18966.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18993.hp2 NA18998.hp2 NA19004.hp2 NA19009.hp1 NA19043.hp2 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0016 a0021	a0001c0001 a0001c0011 a0002c0002 others(4): Show a0001c0001 a0001c0011 a0002c0002 a0003c0003 a0008c0012 a0016c0029 a0021c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0011t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0008c0012t0006 a0008c0012t0009 a0016c0029t0002 a0021c0017t0003	a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0273 others(58): Show a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0003g0204 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0021 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0005g0001 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0011t0001g0237 a0002c0002t0001g0266 a0003c0003t0001g0157 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0145 a0003c0003t0003g0148 a0003c0003t0003g0151 a0003c0003t0003g0169 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0180 a0003c0003t0003g0184 a0008c0012t0006g0133 a0008c0012t0006g0135 a0008c0012t0009g0208 a0016c0029t0002g0091 a0021c0017t0003g0182	63	312	0.2019	31	c.498 others(50): Show c.4988+4480_4988+4510dupTATATATATAATGTATAATTTTATAT ATAAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	122023771	T T	TATATAAT others(24): Show TATATAATTATATATATAATGTATAATTTTAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01071.hp1 others(19): Show HG00408.hp1 HG00558.hp1 HG01071.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01943.hp1 HG02040.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 NA18612.hp2 NA18939.hp1 NA18945.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18991.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2	a0001 a0003 a0022 a0001 a0003 a0022	a0001c0001 a0001c0011 a0003c0003 others(2): Show a0001c0001 a0001c0011 a0003c0003 a0003c0019 a0022c0018	a0001c0001t0002 a0001c0011t0001 a0003c0003t0001 others(3): Show a0001c0001t0002 a0001c0011t0001 a0003c0003t0001 a0003c0003t0003 a0003c0019t0001 a0022c0018t0003	a0001c0001t0002g0097 a0001c0011t0001g0300 a0003c0003t0001g0147 others(19): Show a0001c0001t0002g0097 a0001c0011t0001g0300 a0003c0003t0001g0147 a0003c0003t0001g0165 a0003c0003t0003g0136 a0003c0003t0003g0150 a0003c0003t0003g0155 a0003c0003t0003g0158 a0003c0003t0003g0159 a0003c0003t0003g0160 a0003c0003t0003g0161 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0003g0168 a0003c0003t0003g0173 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0191 a0003c0019t0001g0152 a0022c0018t0003g0198	22	312	0.0705	31	c.498 others(50): Show c.4988+4510_4988+4511insTATATATATAATGTATAATTTTACAT ATAAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	334	0.0030	31	c.364 others(50): Show c.364-10121_364-10120insATATATATATATATATATATATATAT ATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	334	0.0030	31	c.364 others(50): Show c.364-10121_364-10120insAAAAATATATATATATATATATATAT ATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	334	0.0030	31	c.364 others(50): Show c.364-10121_364-10120insAAAAAAATATATATATATATATATAT ATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18971.hp2 HG01175.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0138 a0001c0001t0002g0038 a0001c0001t0002g0138	2	334	0.0060	31	c.364 others(50): Show c.364-10121_364-10120insAAAAAAAAATATATATATATATATAT ATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	358	0.0028	31	c.222 others(48): Show c.2226-929_2226-928insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PXDN_chr2_1626887_1749515	1695608	C C	CTGGGTCT others(24): Show CTGGGTCTGAGCACCTGAGAGGTGGCCTAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02965.hp2 HG02647.hp1 HG02809.hp1 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0014 a0001c0004 a0001c0006 a0001c0014	a0001c0004t0004 a0001c0006t0013 a0001c0014t0013 a0001c0004t0004 a0001c0006t0013 a0001c0014t0013	a0001c0004t0004g0312 a0001c0006t0013g0310 a0001c0014t0013g0248 a0001c0004t0004g0312 a0001c0006t0013g0310 a0001c0014t0013g0248	3	322	0.0093	31	c.201 others(48): Show c.201-2475_201-2474insCTCTAGGCCACCTCTCAGGTGCTCAGAC CCA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02451.hp2 HG02976.hp1 others(2): Show HG01361.hp1 HG02451.hp2 HG02976.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0046 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0046 a0001c0001t0047	a0001c0001t0007g0129 a0001c0001t0007g0132 a0001c0001t0010g0134 others(2): Show a0001c0001t0007g0129 a0001c0001t0007g0132 a0001c0001t0010g0134 a0001c0001t0046g0133 a0001c0001t0047g0164	5	388	0.0129	31	c.113 others(48): Show c.113+2455_113+2456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTTTCTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	434	0.0023	31	c.15 others(42): Show c.1564_*1565insTCTCTCTCTCTTTCTTCTTTCTTTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0024 a0001c0001t0048g0024	1	412	0.0024	31	c.49+ others(48): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(24): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0088 a0001c0002t0088	a0001c0002t0088g0156 a0001c0002t0088g0156	1	392	0.0026	31	c.43 others(40): Show c.436_*437insCCCCCCCACCTTGGCCCTCCCTGCACCCTCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	436		chr9	TogoVar
RAB10_chr2_26029084_26142454	26124389	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	212	0.0047	31	c.328 others(48): Show c.328-2727_328-2726insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB10_chr2_26029084_26142454	26138991	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	212	0.0047	31	c.39 others(42): Show c.3970_*3971insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding		1538		chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492507	C C	CCCAGGGC others(24): Show CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01255.hp2 others(2): Show HG00642.hp1 HG01071.hp1 HG01255.hp2 HG01256.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0246	5	295	0.0170	31	c.126 others(50): Show c.1265+3520_1265+3521insCGGGAGACCCGAGGCCGTCCAGGGCC CTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	410	0.0024	31	c.84 others(42): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB32_chr6_146538833_146559953	146541593	C C	CAAACACT others(24): Show CAAACACTACCAGATGAAGGTTGAAAAAGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	414	0.0024	31	c.-22 others(42): Show c.-2279_-2278insAAACACTACCAGATGAAGGTTGAAAAAGGAT	RAB32	ENSG00000118508.5	transcript	ENST00000367495.4	protein_coding		2239		chr6	TogoVar
RAB40C_chr16_585066_634268	614013	A A	AGATGGTG others(24): Show AGATGGTGAACTGCCTAACTCTACCGCGTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	350	0.0029	31	c.143 others(48): Show c.143-3181_143-3151dupCTAACTCTACCGCGTCCCGATGGTGAAC TGC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 5228 hits)