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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAX3_chr2_222194887_222303998	222209696	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp2 HG02055.hp2 others(8): Show HG00733.hp2 HG01081.hp2 HG02055.hp2 HG02258.hp2 HG02622.hp1 HG02717.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0006 a0001c0001t0007 a0004c0008t0006 a0001c0001t0006 a0001c0001t0007 a0004c0008t0006	a0001c0001t0006g0099 a0001c0001t0006g0141 a0001c0001t0006g0144 others(8): Show a0001c0001t0006g0099 a0001c0001t0006g0141 a0001c0001t0006g0144 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0195 a0001c0001t0006g0241 a0001c0001t0006g0301 a0001c0001t0007g0211 a0001c0001t0007g0314 a0004c0008t0006g0094	11	328	0.0335	-27	c.117 others(46): Show c.1174-7533_1174-7507delTTTTTTTTTTTTTTTTTTTTTTTTTT T	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX8_chr2_113210997_113283921	113276838	AGCAGAAG others(20): Show AGCAGAAGTGCCATTGCACCAGCTTGGC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	300	0.0033	-27	c.25+ others(42): Show c.25+1505_25+1531delGCCAAGCTGGTGCAATGGCACTTCTGC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PBX3_chr9_125742373_125972377	125870073	TGCACTAT others(20): Show TGCACTATCTCAGCTCACTGAGACAGTA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	294	0.0034	-27	c.275 others(46): Show c.275-45581_275-45555delTATCTCAGCTCACTGAGACAGTAGCA C	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCCA_chr13_100084093_100535435	100375057	GTACATTG others(20): Show GTACATTGTGTCTTTGTTCTCATTGGTT	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0060 a0001c0010t0001g0060	1	174	0.0058	-27	c.174 others(46): Show c.1746+6485_1746+6511delACATTGTGTCTTTGTTCTCATTGGTT T	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH15_chr10_53797771_54806231	53984122	CTTTTTTT others(20): Show CTTTTTTTTTTTTTCTTTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01261.hp2 others(8): Show HG00642.hp2 HG01081.hp2 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG01981.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0002c0039 others(2): Show a0001c0001 a0002c0002 a0002c0039 a0004c0004 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 a0002c0039t0001 a0004c0004t0001 a0007c0007t0022	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0002g0070 a0001c0001t0020g0095 a0002c0002t0001g0093 a0002c0002t0002g0037 a0002c0039t0001g0073 a0004c0004t0001g0045 a0007c0007t0022g0075	11	102	0.1078	-27	c.286 others(48): Show c.2868+11500_2868+11526delAGAAAAGAAAAAAGAAAAAAAAAA AAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	21/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54421845	CACTATAT others(20): Show CACTATATATATATATATACACACACTA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	1	102	0.0098	-27	c.158 others(46): Show c.158-42930_158-42904delTAGTGTGTGTATATATATATATATAG T	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53984122	CTTTTTTT others(20): Show CTTTTTTTTTTTTTCTTTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01261.hp1 others(8): Show HG00642.hp1 HG01081.hp1 HG01261.hp1 HG01884.hp1 HG01934.hp1 HG01981.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0022	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0002c0045 a0004c0004 a0009c0014 a0022c0039	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0002c0045t0001 a0004c0004t0001 a0009c0014t0001 a0022c0039t0001	a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0041 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0007t0001g0087 a0002c0002t0001g0034 a0002c0002t0001g0085 a0002c0045t0001g0067 a0004c0004t0001g0042 a0009c0014t0001g0069 a0022c0039t0001g0093	11	94	0.1170	-27	c.286 others(48): Show c.2868+11500_2868+11526delAGAAAAGAAAAAAGAAAAAAAAAA AAA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	21/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54421845	CACTATAT others(20): Show CACTATATATATATATATACACACACTA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	1	94	0.0106	-27	c.158 others(46): Show c.158-42930_158-42904delTAGTGTGTGTATATATATATATATAG T	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	31056431	AAAGAAAG others(20): Show AAAGAAAGAAGGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	214	0.0047	-27	c.339 others(48): Show c.3392-86032_3392-86006delGGAAAGAAAGAAAGAAAGAAGAAA GAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31117453	ATTAGAAT others(20): Show ATTAGAATTCAGAGACATAGTTAATATT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 HG01496.hp2 others(3): Show HG01099.hp2 HG01192.hp1 HG01496.hp2 HG02683.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0011 a0001c0001t0022 a0001c0002t0011 others(1): Show a0001c0001t0011 a0001c0001t0022 a0001c0002t0011 a0001c0005t0022	a0001c0001t0011g0181 a0001c0001t0011g0186 a0001c0001t0011g0202 others(3): Show a0001c0001t0011g0181 a0001c0001t0011g0186 a0001c0001t0011g0202 a0001c0001t0022g0203 a0001c0002t0011g0133 a0001c0005t0022g0102	6	214	0.0280	-27	c.339 others(48): Show c.3392-25009_3392-24983delGAGACATAGTTAATATTTTAGAAT TCA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDHB15_chr5_141240395_141254365	141248545	ATGTAAAT others(20): Show ATGTAAATTAACATAGAAAAGACTAATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0015 a0003c0023t0015	a0003c0023t0015g0000 a0003c0023t0015g0000	1	422	0.0024	-27	c.60 others(36): Show c.604_*630delTGTAAATTAACATAGAAAAGACTAATG	PCDHB15	ENSG00000113248.6	transcript	ENST00000231173.6	protein_coding	1/1	604		chr5	TogoVar
PCLO_chr7_82749012_83167884	82999481	ATAAAATA others(20): Show ATAAAATATAATATATATAATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp2 others(34): Show HG00099.hp1 HG00099.hp2 HG00544.hp2 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01934.hp1 HG01952.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02738.hp2 HG02976.hp1 HG03492.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp1 NA18981.hp2 NA18984.hp2 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0011 a0015 a0017 a0024 a0049 a0050 a0051 a0052 a0057 a0062 a0063 a0068 a0073	a0001c0003 a0002c0004 a0002c0007 others(21): Show a0001c0003 a0002c0004 a0002c0007 a0002c0062 a0003c0022 a0003c0091 a0004c0002 a0005c0005 a0011c0027 a0011c0040 a0015c0094 a0015c0095 a0017c0041 a0017c0110 a0024c0025 a0049c0058 a0050c0054 a0051c0057 a0052c0056 a0057c0055 a0062c0106 a0063c0107 a0068c0101 a0073c0029	a0001c0003t0019 a0002c0004t0007 a0002c0007t0001 others(23): Show a0001c0003t0019 a0002c0004t0007 a0002c0007t0001 a0002c0062t0001 a0003c0022t0003 a0003c0091t0001 a0004c0002t0001 a0004c0002t0027 a0005c0005t0001 a0005c0005t0028 a0011c0027t0001 a0011c0040t0001 a0015c0094t0009 a0015c0095t0001 a0017c0041t0024 a0017c0110t0004 a0024c0025t0009 a0049c0058t0001 a0050c0054t0001 a0051c0057t0001 a0052c0056t0003 a0057c0055t0001 a0062c0106t0001 a0063c0107t0004 a0068c0101t0001 a0073c0029t0026	a0001c0003t0019g0021 a0002c0004t0007g0097 a0002c0004t0007g0099 others(34): Show a0001c0003t0019g0021 a0002c0004t0007g0097 a0002c0004t0007g0099 a0002c0004t0007g0108 a0002c0007t0001g0020 a0002c0062t0001g0090 a0003c0022t0003g0167 a0003c0091t0001g0162 a0004c0002t0001g0016 a0004c0002t0001g0019 a0004c0002t0001g0083 a0004c0002t0001g0095 a0004c0002t0001g0105 a0004c0002t0001g0106 a0004c0002t0027g0149 a0005c0005t0001g0159 a0005c0005t0001g0168 a0005c0005t0001g0172 a0005c0005t0001g0174 a0005c0005t0028g0153 a0011c0027t0001g0046 a0011c0027t0001g0048 a0011c0040t0001g0043 a0015c0094t0009g0188 a0015c0095t0001g0187 a0017c0041t0024g0076 a0017c0110t0004g0049 a0024c0025t0009g0063 a0049c0058t0001g0086 a0050c0054t0001g0129 a0051c0057t0001g0103 a0052c0056t0003g0101 a0057c0055t0001g0151 a0062c0106t0001g0069 a0063c0107t0004g0068 a0068c0101t0001g0054 a0073c0029t0026g0009	37	188	0.1968	-27	c.330 others(48): Show c.3301-33021_3301-32995delATATAATATTATATATATTATATT TTA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83097534	ATATATAT others(20): Show ATATATATAATATATAAAATACATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0045 a0045	a0045c0075 a0045c0075	a0045c0075t0003 a0045c0075t0003	a0045c0075t0003g0138 a0045c0075t0003g0138	1	188	0.0053	-27	c.330 others(48): Show c.3300+36689_3300+36715delATATATGTATTTTATATATTATAT ATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCNT_chr21_46319156_46450769	46414737	TCCTCCTC others(20): Show TCCTCCTCCTGGACACGCAGCCGCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01433.hp1 HG01515.hp1 others(12): Show HG01069.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG03041.hp2 HG03130.hp1 HG03710.hp1 NA20129.hp1	a0004 a0005 a0014 others(4): Show a0004 a0005 a0014 a0015 a0025 a0041 a0060	a0004c0004 a0005c0008 a0005c0016 others(6): Show a0004c0004 a0005c0008 a0005c0016 a0005c0069 a0014c0014 a0015c0025 a0025c0029 a0041c0074 a0060c0053	a0004c0004t0001 a0005c0008t0001 a0005c0016t0001 others(6): Show a0004c0004t0001 a0005c0008t0001 a0005c0016t0001 a0005c0069t0001 a0014c0014t0004 a0015c0025t0001 a0025c0029t0001 a0041c0074t0001 a0060c0053t0001	a0004c0004t0001g0090 a0004c0004t0001g0110 a0005c0008t0001g0084 others(12): Show a0004c0004t0001g0090 a0004c0004t0001g0110 a0005c0008t0001g0084 a0005c0008t0001g0088 a0005c0016t0001g0112 a0005c0016t0001g0116 a0005c0069t0001g0095 a0014c0014t0004g0331 a0015c0025t0001g0094 a0015c0025t0001g0117 a0015c0025t0001g0118 a0025c0029t0001g0109 a0025c0029t0001g0120 a0041c0074t0001g0108 a0060c0053t0001g0326	15	332	0.0452	-27	c.615 others(46): Show c.6151-1316_6151-1290delGCAGCCGCCCACCCTCCTCCTGGACA C	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	75994396	CTTTCTTT others(20): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0023 a0001c0013t0023	a0001c0013t0023g0137 a0001c0013t0023g0137	1	166	0.0060	-27	c.411 others(44): Show c.411+8155_411+8181delCTTTTTTTTTTTTTTTTTTTTTTTTTT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101308686	GGGGTTGT others(20): Show GGGGTTGTGCACTTGTGGGAAGCCCCAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00735.hp2 others(34): Show HG00323.hp1 HG00733.hp1 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG02004.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02683.hp1 HG02717.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18906.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0019	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0019 a0001c0061 a0002c0008 a0002c0016 a0002c0018 a0002c0031 a0004c0014 a0004c0051 a0006c0029 a0006c0030 a0007c0068 a0019c0033	a0001c0001t0001 a0001c0002t0006 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0002t0006 a0001c0004t0001 a0001c0004t0006 a0001c0005t0001 a0001c0006t0001 a0001c0007t0006 a0001c0009t0001 a0001c0010t0001 a0001c0012t0001 a0001c0019t0001 a0001c0061t0001 a0002c0008t0001 a0002c0016t0001 a0002c0018t0001 a0002c0031t0001 a0004c0014t0001 a0004c0051t0001 a0006c0029t0001 a0006c0030t0001 a0007c0068t0001 a0019c0033t0001	a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0001g0234 others(34): Show a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0267 a0001c0002t0006g0283 a0001c0004t0001g0065 a0001c0004t0006g0076 a0001c0005t0001g0273 a0001c0006t0001g0037 a0001c0006t0001g0082 a0001c0006t0001g0111 a0001c0006t0001g0115 a0001c0007t0006g0068 a0001c0007t0006g0070 a0001c0009t0001g0208 a0001c0009t0001g0282 a0001c0010t0001g0287 a0001c0010t0001g0297 a0001c0012t0001g0102 a0001c0019t0001g0306 a0001c0061t0001g0309 a0002c0008t0001g0020 a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 a0002c0016t0001g0013 a0002c0018t0001g0025 a0002c0031t0001g0008 a0004c0014t0001g0055 a0004c0014t0001g0062 a0004c0014t0001g0077 a0004c0014t0001g0123 a0004c0051t0001g0263 a0006c0029t0001g0006 a0006c0030t0001g0003 a0007c0068t0001g0326 a0019c0033t0001g0028	37	336	0.1101	-27	c.270 others(46): Show c.2700-1388_2700-1362delATGGGGCTTCCCACAAGTGCACAACC C	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311936	CACCCTCA others(20): Show CACCCTCACAGCCCACCCCATCGTCACA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00673.hp1 others(18): Show HG00438.hp2 HG00558.hp1 HG00673.hp1 HG01891.hp2 HG02056.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 NA18955.hp1 NA18967.hp2 NA18985.hp2 NA18990.hp2 NA19004.hp1 NA19079.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0018	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0013 a0001c0059 a0002c0008 a0002c0016 a0002c0018 a0003c0024 a0018c0066	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(11): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0004t0002 a0001c0005t0002 a0001c0007t0001 a0001c0011t0001 a0001c0013t0002 a0001c0059t0001 a0002c0008t0001 a0002c0016t0001 a0002c0018t0001 a0003c0024t0002 a0018c0066t0002	a0001c0001t0002g0178 a0001c0001t0002g0226 a0001c0001t0002g0250 others(18): Show a0001c0001t0002g0178 a0001c0001t0002g0226 a0001c0001t0002g0250 a0001c0001t0002g0271 a0001c0002t0002g0225 a0001c0003t0001g0089 a0001c0004t0002g0097 a0001c0005t0002g0158 a0001c0005t0002g0207 a0001c0007t0001g0041 a0001c0011t0001g0300 a0001c0013t0002g0064 a0001c0059t0001g0308 a0002c0008t0001g0022 a0002c0008t0001g0026 a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 a0002c0018t0001g0017 a0003c0024t0002g0321 a0018c0066t0002g0323	21	336	0.0625	-27	c.269 others(46): Show c.2699+1413_2699+1439delTGTGACGATGGGGTGGGCTGTGAGGG T	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCYT1A_chr3_196229368_196292726	196249998	GTACACCA others(20): Show GTACACCATGCCGAGGCTGAGGACCAGA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18986.hp1 NA19003.hp2 NA18984.hp2 NA18986.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0222 a0001c0001t0019g0230 a0001c0001t0019g0232 a0001c0001t0019g0222 a0001c0001t0019g0230 a0001c0001t0019g0232	3	310	0.0097	-27	c.218 others(44): Show c.218-1702_218-1676delTCTGGTCCTCAGCCTCGGCATGGTGTA	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196250079	ATACACCA others(20): Show ATACACCATGCCGAGGCTGAGGACCAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(6): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00741.hp2 HG01243.hp2 HG01361.hp2 HG02300.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0009 a0001c0001t0026	a0001c0001t0009g0002 a0001c0001t0009g0138 a0001c0001t0009g0139 others(4): Show a0001c0001t0009g0002 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0293 a0001c0001t0026g0015 a0001c0001t0026g0016	9	310	0.0290	-27	c.218 others(44): Show c.218-1783_218-1757delCCTGGTCCTCAGCCTCGGCATGGTGTA	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196250987	TATGCTGA others(20): Show TATGCTGAGGCTGAGGACCAGATACACC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0266 a0001c0001t0047g0266	1	310	0.0032	-27	c.218 others(44): Show c.218-2691_218-2665delGGTGTATCTGGTCCTCAGCCTCAGCAT	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PDCD11_chr10_103391626_103451294	103443683	CGCCCTCC others(20): Show CGCCCTCCCATGGGTGCGGATCAGCAGG	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	362	0.0028	-27	c.512 others(44): Show c.5125-230_5125-204delCCCTCCCATGGGTGCGGATCAGCAGGG	PDCD11	ENSG00000148843.15	transcript	ENST00000369797.8	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDCD6IP_chr3_33793630_33874703	33856538	GATAGAAC others(20): Show GATAGAACAGTTATTTAACGTTCTGTAA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0255	1	318	0.0031	-27	c.212 others(46): Show c.2120+1280_2120+1306delTAGAACAGTTATTTAACGTTCTGTAA A	PDCD6IP	ENSG00000170248.15	transcript	ENST00000307296.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	299009	CCTCCCCA others(20): Show CCTCCCCAGCTGCTCCCCCCCAGCCGCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	360	0.0028	-27	c.164 others(44): Show c.164-5166_164-5140delTCCCCAGCTGCTCCCCCCCAGCCGCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE10A_chr6_165322289_165668241	165384644	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00673.hp1 others(59): Show HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp2 HG04204.hp1 NA18522.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18978.hp1 NA18998.hp1 NA19012.hp2 NA19074.hp1 NA19085.hp1 NA19090.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0021 a0001c0023 a0001c0033 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0027 a0001c0002t0030 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0011 a0001c0004t0002 a0001c0004t0003 a0001c0004t0012 a0001c0005t0002 a0001c0006t0002 a0001c0010t0002 a0001c0011t0028 a0001c0021t0003 a0001c0023t0003 a0001c0033t0003 a0002c0029t0034	a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0182 others(59): Show a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0002g0011 a0001c0001t0002g0042 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0114 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0189 a0001c0001t0003g0009 a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0075 a0001c0001t0003g0094 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0163 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0007g0050 a0001c0001t0011g0183 a0001c0001t0012g0028 a0001c0001t0013g0106 a0001c0001t0014g0006 a0001c0001t0017g0056 a0001c0001t0024g0180 a0001c0002t0001g0099 a0001c0002t0002g0003 a0001c0002t0002g0152 a0001c0002t0027g0084 a0001c0002t0030g0086 a0001c0003t0002g0040 a0001c0003t0002g0140 a0001c0003t0002g0191 a0001c0003t0002g0195 a0001c0003t0003g0104 a0001c0003t0003g0155 a0001c0003t0003g0158 a0001c0003t0007g0127 a0001c0003t0011g0096 a0001c0004t0002g0024 a0001c0004t0003g0082 a0001c0004t0012g0067 a0001c0005t0002g0080 a0001c0005t0002g0129 a0001c0006t0002g0214 a0001c0010t0002g0083 a0001c0011t0028g0134 a0001c0021t0003g0085 a0001c0023t0003g0116 a0001c0033t0003g0216 a0002c0029t0034g0219	62	222	0.2793	-27	c.261 others(46): Show c.2610+3627_2610+3653delATACACACACACACACACACACACAC A	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	17/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165384645	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTATG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02145.hp2 HG02451.hp2 others(1): Show HG01515.hp1 HG02145.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0002t0002 a0001c0009t0002 a0001c0001t0002 a0001c0002t0002 a0001c0009t0002	a0001c0001t0002g0013 a0001c0001t0002g0054 a0001c0002t0002g0125 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0054 a0001c0002t0002g0125 a0001c0009t0002g0034	4	222	0.0180	-27	c.261 others(46): Show c.2610+3626_2610+3652delCATACACACACACACACACACACACA C	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	17/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165508392	ATAATTTA others(20): Show ATAATTTATTCTTTTTATTGAAGAGTAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174	3	222	0.0135	-27	c.995 others(46): Show c.995-26076_995-26050delCTACTCTTCAATAAAAAGAATAAATT A	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21			chr6	TogoVar
PDE1C_chr7_31746179_32075407	31786930	TATCTATC others(20): Show TATCTATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	262	0.0038	-27	c.189 others(48): Show c.1892-11225_1892-11199delGATAGATAGATAGATAGATAGATA GAT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20467933	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02647.hp2 others(2): Show HG02055.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0003c0018	a0001c0001t0009 a0001c0001t0045 a0001c0003t0077 others(2): Show a0001c0001t0009 a0001c0001t0045 a0001c0003t0077 a0002c0004t0076 a0003c0018t0099	a0001c0001t0009g0043 a0001c0001t0045g0194 a0001c0003t0077g0015 others(2): Show a0001c0001t0009g0043 a0001c0001t0045g0194 a0001c0003t0077g0015 a0002c0004t0076g0029 a0003c0018t0099g0188	5	198	0.0253	-27	c.961 others(46): Show c.961-88706_961-88680delAAAAAAAAAAAAAAAAAAAAAAAAAA A	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623628	TTATGATG others(20): Show TTATGATGGATATATTCTAGAAAGAATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00738.hp1 others(26): Show HG00323.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01255.hp2 HG01943.hp2 HG02145.hp1 HG02148.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG04204.hp1 HG06807.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0001c0012 a0002c0002 others(5): Show a0001c0001 a0001c0012 a0002c0002 a0002c0004 a0004c0015 a0005c0014 a0006c0013 a0008c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0054 a0001c0001t0064 a0001c0001t0104 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0149 a0001c0012t0122 a0002c0002t0024 a0002c0002t0112 a0002c0002t0124 a0002c0002t0131 a0002c0002t0133 a0002c0004t0129 a0004c0015t0008 a0005c0014t0001 a0006c0013t0093 a0008c0008t0073	a0001c0001t0001g0132 a0001c0001t0008g0160 a0001c0001t0009g0043 others(26): Show a0001c0001t0001g0132 a0001c0001t0008g0160 a0001c0001t0009g0043 a0001c0001t0009g0136 a0001c0001t0011g0159 a0001c0001t0014g0171 a0001c0001t0014g0172 a0001c0001t0027g0124 a0001c0001t0030g0190 a0001c0001t0031g0187 a0001c0001t0041g0139 a0001c0001t0054g0177 a0001c0001t0064g0040 a0001c0001t0104g0135 a0001c0001t0144g0145 a0001c0001t0145g0097 a0001c0001t0146g0054 a0001c0001t0149g0027 a0001c0012t0122g0182 a0002c0002t0024g0078 a0002c0002t0112g0168 a0002c0002t0124g0017 a0002c0002t0131g0024 a0002c0002t0133g0141 a0002c0004t0129g0038 a0004c0015t0008g0037 a0005c0014t0001g0036 a0006c0013t0093g0165 a0008c0008t0073g0018	29	198	0.1465	-27	c.154 others(46): Show c.1540+2336_1540+2362delATATTCTAGAAAGAATATATGATGGA T	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623747	ATATTCTA others(20): Show ATATTCTAGAAAGAATATATGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA20129.hp1 HG03098.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0139 a0002c0002t0142 a0002c0002t0139 a0002c0002t0142	a0002c0002t0139g0009 a0002c0002t0142g0082 a0002c0002t0139g0009 a0002c0002t0142g0082	2	198	0.0101	-27	c.154 others(46): Show c.1540+2352_1540+2378delATATGATGGATGTATTCTAGAAAGAA T	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE6A_chr5_149852953_149949793	149872275	TTCTGATT others(20): Show TTCTGATTTTGTTAGTCCAAATCAGTTA	T T	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0228 a0001c0002t0003g0228	1	328	0.0031	-27	c.213 others(46): Show c.2136-4144_2136-4118delTAACTGATTTGGACTAACAAAATCAG A	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	17/21			chr5	TogoVar
PDE6C_chr10_93607537_93671010	93654783	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	384	0.0026	-27	c.193 others(44): Show c.1936-974_1936-948delCTTTCTTTCTTTCTTTCTTTCTTTCTT	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDGFB_chr22_39218359_39249982	39247874	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02559.hp2 HG02976.hp1 others(2): Show HG01361.hp1 HG02559.hp2 HG02976.hp1 HG04199.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0020 a0001c0001t0002g0023 a0001c0001t0003g0066 others(2): Show a0001c0001t0001g0020 a0001c0001t0002g0023 a0001c0001t0003g0066 a0001c0001t0011g0193 a0001c0001t0011g0194	5	386	0.0130	-27	c.-39 others(38): Show c.-3938_-3912delATATATATATATTTTTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2893		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247876	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG01346.hp1 others(23): Show HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02080.hp1 HG02257.hp1 HG02523.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03942.hp2 NA18973.hp1 NA18978.hp2 NA18994.hp1 NA18994.hp2 NA19054.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0185 a0001c0001t0002g0023 a0001c0001t0003g0048 a0001c0001t0003g0054 a0001c0001t0003g0067 a0001c0001t0038g0143 a0001c0003t0001g0149	26	386	0.0674	-27	c.-39 others(38): Show c.-3940_-3914delATATATATATATATTTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2895		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247878	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01099.hp2 others(30): Show HG00280.hp2 HG00735.hp2 HG01099.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG02109.hp1 HG02280.hp2 HG02559.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03239.hp2 HG03471.hp2 HG03540.hp1 HG03834.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18980.hp1 NA18980.hp2 NA18992.hp1 NA18992.hp2 NA19012.hp2 NA19060.hp1 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0035 a0001c0002t0014 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0187 a0001c0001t0003g0005 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0011g0192 a0001c0001t0035g0163 a0001c0002t0014g0035 a0004c0005t0001g0159	33	386	0.0855	-27	c.-39 others(38): Show c.-3942_-3916delATATATATATATATATTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2897		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247880	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02071.hp2 HG02572.hp2 others(14): Show HG00423.hp2 HG02071.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03453.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 NA18946.hp2 NA18979.hp2 NA19004.hp1 NA19062.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0037 a0001c0001t0039 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0028 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0147 a0001c0001t0003g0005 a0001c0001t0003g0053 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0021g0051 a0001c0001t0037g0148 a0001c0001t0039g0191 a0001c0002t0006g0076	17	386	0.0440	-27	c.-39 others(38): Show c.-3944_-3918delATATATATATATATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2899		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247882	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	386	0.0026	-27	c.-39 others(38): Show c.-3946_-3920delATATATATATATATATATATTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2901		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247884	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	-27	c.-39 others(38): Show c.-3948_-3922delATATATATATATATATATATATTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2903		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156825578	TAATAATA others(20): Show TAATAATAATAATAATAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18967.hp1 NA19079.hp1 others(1): Show NA18954.hp1 NA18967.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 others(1): Show a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0034g0195	4	208	0.0192	-27	c.315 others(46): Show c.315-14588_315-14562delCTTCTTCTTCTTATTATTATTATTAT T	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825581	TAATAATA others(20): Show TAATAATAATAATAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	208	0.0048	-27	c.315 others(46): Show c.315-14591_315-14565delCTTCTTCTTCTTCTTATTATTATTAT T	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825584	TAATAATA others(20): Show TAATAATAATAAGAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	208	0.0048	-27	c.315 others(46): Show c.315-14594_315-14568delCTTCTTCTTCTTCTTCTTATTATTAT T	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103955163	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	200	0.0050	-27	c.511 others(44): Show c.511-7466_511-7440delTTTTTTTTTTTTTTTTTTTTTTTTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119070	TGGTATAA others(20): Show TGGTATAATATATAATATATTGATATAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02129.hp1 NA18522.hp2 HG01175.hp1 HG02129.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0012 a0001c0001t0002 a0001c0002t0001 a0001c0002t0012	a0001c0001t0002g0183 a0001c0002t0001g0012 a0001c0002t0012g0189 a0001c0001t0002g0183 a0001c0002t0001g0012 a0001c0002t0012g0189	3	200	0.0150	-27	c.124 others(46): Show c.124+44707_124+44733delTTATATCAATATATTATATATTATAC C	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDILT_chr16_20354175_20409737	20367008	ATTTCTCT others(20): Show ATTTCTCTCTCTCTTTCTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0139 a0004c0006t0001g0139	1	406	0.0025	-27	c.111 others(46): Show c.1117-1495_1117-1469delGAAAGAAAGAAGAAAGAGAGAGAGAA A	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02572.hp1 HG03130.hp2 others(4): Show HG00673.hp2 HG02572.hp1 HG03130.hp2 HG03471.hp1 NA18522.hp2 NA19000.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 a0001c0001t0038 a0001c0002t0011	a0001c0001t0002g0132 a0001c0001t0008g0301 a0001c0001t0008g0305 others(4): Show a0001c0001t0002g0132 a0001c0001t0008g0301 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0025g0193 a0001c0001t0038g0309 a0001c0002t0011g0220	7	334	0.0210	-27	c.-19 others(46): Show c.-19-13565_-19-13539delTTTTTTTTTTTTTTTTTTTTTTTTTT T	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDX1_chr13_27915000_27931313	27925402	TCCTCCTC others(20): Show TCCTCCTCCTCTTCTTCCCCCTCCTCTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	434	0.0023	-27	c.74 others(36): Show c.745_*771delCCCCTCCTCTCCCTCCTCCTCTTCTTC	PDX1	ENSG00000139515.6	transcript	ENST00000381033.5	protein_coding	2/2	745	INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43732600	TTTCAGGA others(20): Show TTTCAGGATTTGTGTCATCGTTGCTTAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0053 a0001c0001t0015g0053	1	358	0.0028	-27	c.88- others(42): Show c.88-1467_88-1441delTCAGGATTTGTGTCATCGTTGCTTAAT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXP_chr22_37653723_37671932	37661917	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	418	0.0024	-27	c.574 others(44): Show c.574+2577_574+2603delTTTTTTTTTTTTTTTTTTTTTTTTTTT	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
PDZD7_chr10_101002679_101036129	101019542	GCCTCCTC others(20): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02630.hp1 others(10): Show HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0020	a0001c0001 a0002c0008 a0003c0003 others(2): Show a0001c0001 a0002c0008 a0003c0003 a0004c0004 a0020c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0008t0004 a0003c0003t0002 a0004c0004t0001 a0004c0004t0004 a0004c0004t0010 a0004c0004t0011 a0020c0025t0013	a0001c0001t0001g0142 a0001c0001t0003g0139 a0001c0001t0005g0027 others(10): Show a0001c0001t0001g0142 a0001c0001t0003g0139 a0001c0001t0005g0027 a0002c0008t0004g0025 a0003c0003t0002g0029 a0004c0004t0001g0028 a0004c0004t0004g0030 a0004c0004t0010g0140 a0004c0004t0010g0141 a0004c0004t0010g0164 a0004c0004t0011g0096 a0004c0004t0011g0135 a0020c0025t0013g0132	13	432	0.0301	-27	c.929 others(42): Show c.929-352_929-326delAGGAGGAGGAGGAGGAGGAGGAGGAGG	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	7/16			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357765	CCAAAAAA others(20): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp2 others(68): Show HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00738.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01361.hp1 HG01891.hp1 HG01934.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02486.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA20905.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0009 a0010	a0001c0002 a0001c0008 a0005c0007 others(3): Show a0001c0002 a0001c0008 a0005c0007 a0007c0015 a0009c0016 a0010c0017	a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 others(19): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0015 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0043 a0001c0008t0019 a0005c0007t0067 a0007c0015t0004 a0009c0016t0002 a0010c0017t0002	a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0049 others(68): Show a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0134 a0001c0002t0004g0041 a0001c0002t0004g0043 a0001c0002t0004g0050 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0071 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0077 a0001c0002t0004g0088 a0001c0002t0004g0117 a0001c0002t0004g0128 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0008g0039 a0001c0002t0008g0079 a0001c0002t0008g0116 a0001c0002t0009g0003 a0001c0002t0009g0005 a0001c0002t0009g0007 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0002t0015g0038 a0001c0002t0019g0072 a0001c0002t0023g0053 a0001c0002t0023g0107 a0001c0002t0024g0310 a0001c0002t0024g0311 a0001c0002t0028g0004 a0001c0002t0029g0006 a0001c0002t0030g0010 a0001c0002t0033g0058 a0001c0002t0034g0048 a0001c0002t0037g0083 a0001c0002t0038g0096 a0001c0002t0039g0100 a0001c0002t0043g0060 a0001c0008t0019g0011 a0005c0007t0067g0320 a0007c0015t0004g0078 a0009c0016t0002g0081 a0010c0017t0002g0101	71	322	0.2205	-27	c.872 others(46): Show c.872+16564_872+16590delTTTTTTTTTTTTTTTTTTTTTTTTTT G	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar

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