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
PCDH15_chr10_53797771_54806231	54774007	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp2 HG02922.hp1 others(6): Show HG00735.hp1 HG02615.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0017 a0035	a0001c0001 a0003c0003 a0005c0005 others(2): Show a0001c0001 a0003c0003 a0005c0005 a0017c0011 a0035c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0005c0005t0009 a0017c0011t0012 a0035c0025t0007	a0001c0001t0001g0089 a0001c0001t0003g0087 a0001c0001t0008g0003 others(6): Show a0001c0001t0001g0089 a0001c0001t0003g0087 a0001c0001t0008g0003 a0003c0003t0001g0084 a0003c0003t0003g0033 a0003c0003t0004g0088 a0005c0005t0009g0085 a0017c0011t0012g0086 a0035c0025t0007g0079	9	102	0.0882	-23	c.-29 others(42): Show c.-29+26895_-29+26917delAAAAAAAAAAAAAAAAAAAAAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888679	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG02258.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0028 a0001c0001t0001g0006 a0001c0001t0002g0028	2	94	0.0213	-23	c.350 others(44): Show c.3501+14541_3501+14563delATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54454300	GATAGATT others(16): Show GATAGATTATAAAGAATTTCATTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0001 a0017c0033t0001	a0017c0033t0001g0073 a0017c0033t0001g0073	1	94	0.0106	-23	c.157 others(42): Show c.157+73489_157+73511delAAATGAAATTCTTTATAATCTAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54774007	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp2 HG02922.hp1 others(6): Show HG00735.hp1 HG02615.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0015 a0031	a0001c0001 a0001c0007 a0003c0003 others(4): Show a0001c0001 a0001c0007 a0003c0003 a0003c0005 a0005c0036 a0015c0011 a0031c0032	a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 others(5): Show a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 a0003c0003t0002 a0003c0005t0001 a0005c0036t0001 a0015c0011t0001 a0031c0032t0001	a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0007t0001g0079 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0007t0001g0079 a0003c0003t0001g0030 a0003c0003t0002g0080 a0003c0005t0001g0076 a0005c0036t0001g0077 a0015c0011t0001g0078 a0031c0032t0001g0072	9	94	0.0957	-23	c.-29 others(42): Show c.-29+26895_-29+26917delAAAAAAAAAAAAAAAAAAAAAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	30739114	TATATATA others(16): Show TATATATATATTTTATATATAAAA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	214	0.0047	-23	c.317 others(44): Show c.3174+14539_3174+14561delAAAATATATATATTTTATATATA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30894479	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01993.hp2 others(2): Show HG01109.hp2 HG01496.hp2 HG01993.hp2 HG03710.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017	a0001c0001t0001g0185 a0001c0001t0006g0188 a0001c0001t0009g0208 others(2): Show a0001c0001t0001g0185 a0001c0001t0006g0188 a0001c0001t0009g0208 a0001c0001t0011g0202 a0001c0001t0017g0080	5	214	0.0234	-23	c.317 others(44): Show c.3175-25672_3175-25650delAAAAAAAAAAATATATATATATA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31056441	GGAAAGAA others(16): Show GGAAAGAAAGAAAGAAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp2 HG02615.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0021 a0001c0016t0032 a0001c0001t0021 a0001c0016t0032	a0001c0001t0021g0013 a0001c0016t0032g0101 a0001c0001t0021g0013 a0001c0016t0032g0101	2	214	0.0094	-23	c.339 others(44): Show c.3392-86012_3392-85990delGAAAGAAAGAAAGAAAGAAAGAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDHB12_chr5_141203719_141217571	141206444	CACTTAGA others(16): Show CACTTAGAACAATGAGTAGCATAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0003 a0025c0033t0003	a0025c0033t0003g0000 a0025c0033t0003g0000	1	432	0.0023	-23	c.-24 others(34): Show c.-2463_-2441delACTTAGAACAATGAGTAGCATAG	PCDHB12	ENSG00000120328.6	transcript	ENST00000239450.4	protein_coding		2274		chr5	TogoVar
PCDHGA10_chr5_141407987_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	306	0.0033	-23	c.243 others(42): Show c.2436+1895_2436+1917delAATATTTTGGCTGTCAACTCGTA	PCDHGA10	ENSG00000253846.3	transcript	ENST00000398610.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA11_chr5_141416051_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	310	0.0032	-23	c.-37 others(34): Show c.-3723_-3701delAAATATTTTGGCTGTCAACTCGT	PCDHGA11	ENSG00000253873.6	transcript	ENST00000398587.7	protein_coding		3546		chr5	TogoVar
PCDHGA1_chr5_141325514_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	268	0.0037	-23	c.242 others(44): Show c.2422-77301_2422-77279delAATATTTTGGCTGTCAACTCGTA	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	272	0.0037	-23	c.242 others(44): Show c.2424+76111_2424+76133delAATATTTTGGCTGTCAACTCGTA	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	270	0.0037	-23	c.242 others(44): Show c.2424+71049_2424+71071delAATATTTTGGCTGTCAACTCGTA	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	274	0.0037	-23	c.251 others(44): Show c.2514+59885_2514+59907delAATATTTTGGCTGTCAACTCGTA	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	292	0.0034	-23	c.242 others(44): Show c.2421+50755_2421+50777delAATATTTTGGCTGTCAACTCGTA	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	292	0.0034	-23	c.242 others(44): Show c.2424+40999_2424+41021delAATATTTTGGCTGTCAACTCGTA	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	292	0.0034	-23	c.242 others(44): Show c.2424+32183_2424+32205delAATATTTTGGCTGTCAACTCGTA	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0224	1	302	0.0033	-23	c.242 others(44): Show c.2424+22269_2424+22291delAATATTTTGGCTGTCAACTCGTA	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	302	0.0033	-23	c.242 others(44): Show c.2424+12130_2424+12152delAATATTTTGGCTGTCAACTCGTA	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	278	0.0036	-23	c.240 others(44): Show c.2409+64837_2409+64859delAATATTTTGGCTGTCAACTCGTA	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	288	0.0035	-23	c.242 others(44): Show c.2421+54950_2421+54972delAATATTTTGGCTGTCAACTCGTA	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0041 a0001c0010t0002g0041	1	296	0.0034	-23	c.241 others(44): Show c.2415+44697_2415+44719delAATATTTTGGCTGTCAACTCGTA	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	294	0.0034	-23	c.239 others(44): Show c.2397+27225_2397+27247delAATATTTTGGCTGTCAACTCGTA	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	300	0.0033	-23	c.239 others(44): Show c.2397+16982_2397+17004delAATATTTTGGCTGTCAACTCGTA	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	302	0.0033	-23	c.241 others(42): Show c.2418+6886_2418+6908delAATATTTTGGCTGTCAACTCGTA	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB7_chr5_141412677_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0264 a0002c0003t0004g0264	1	306	0.0033	-23	c.-35 others(32): Show c.-355_-333delAAATATTTTGGCTGTCAACTCGT	PCDHGB7	ENSG00000254122.3	transcript	ENST00000398594.4	protein_coding		172		chr5	TogoVar
PCGF3_chr4_700832_775089	706454	CCAGGGAG others(16): Show CCAGGGAGGGCAAAGACCCCAGAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 NA18906.hp1 others(1): Show HG02258.hp1 HG02451.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0361 others(1): Show a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362	4	366	0.0109	-23	c.-19 others(40): Show c.-190+495_-190+517delAAAGACCCCAGAACAGGGAGGGC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF5_chr10_91215663_91289337	91282063	AGACTTTG others(16): Show AGACTTTGGTAAAAGTGCCAACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0005 a0001c0001t0035g0005	1	318	0.0031	-23	c.37 others(34): Show c.3748_*3770delGACTTTGGTAAAAGTGCCAACAC	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	10/10	3748		chr10	TogoVar
PCID2_chr13_113172536_113213669	113208233	ACAGCACC others(16): Show ACAGCACCGCCCACAGCGGGCCCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02886.hp2 others(5): Show HG01884.hp2 HG02280.hp1 HG02886.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0188 a0001c0002t0004g0025 a0001c0002t0004g0055 others(3): Show a0001c0001t0003g0188 a0001c0002t0004g0025 a0001c0002t0004g0055 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187	8	414	0.0193	-23	c.36+ others(36): Show c.36+343_36+365delAGGGCCCGCTGTGGGCGGTGCTG	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding	1/13			chr13	TogoVar
PCNT_chr21_46319156_46450769	46380145	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01192.hp1 others(1): Show HG01069.hp1 HG01106.hp1 HG01192.hp1 NA20805.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0004 a0014c0014t0004	a0014c0014t0004g0329 a0014c0014t0004g0330 a0014c0014t0004g0331 others(1): Show a0014c0014t0004g0329 a0014c0014t0004g0330 a0014c0014t0004g0331 a0014c0014t0004g0332	4	332	0.0121	-23	c.316 others(42): Show c.3166-1533_3166-1511delTTTTTTTTTTTTTTTTTTTTTTT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK1N_chrX_48826096_48840610	48834777	AATCACAC others(16): Show AATCACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0059 a0001c0013t0001g0059	1	314	0.0032	-23	c.114 others(38): Show c.114+619_114+641delGTGTGTGTGTGTGTGTGTGTGAT	PCSK1N	ENSG00000102109.9	transcript	ENST00000218230.6	protein_coding	1/2			chrX	TogoVar
PCSK4_chr19_1476428_1495350	1493780	GAAGGCAC others(16): Show GAAGGCACTTAATAAATGTGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	400	0.0025	-23	c.-34 others(34): Show c.-3457_-3435delTCTGCACATTTATTAAGTGCCTT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3431		chr19	TogoVar
PCSK5_chr9_75885673_76367975	75994396	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03471.hp2 HG02922.hp1 HG02965.hp1 HG03471.hp2	a0001 a0011 a0044 a0001 a0011 a0044	a0001c0049 a0011c0043 a0044c0052 a0001c0049 a0011c0043 a0044c0052	a0001c0049t0013 a0011c0043t0024 a0044c0052t0049 a0001c0049t0013 a0011c0043t0024 a0044c0052t0049	a0001c0049t0013g0120 a0011c0043t0024g0136 a0044c0052t0049g0124 a0001c0049t0013g0120 a0011c0043t0024g0136 a0044c0052t0049g0124	3	166	0.0181	-23	c.411 others(40): Show c.411+8155_411+8177delCTTTTTTTTTTTTTTTTTTTTTT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDCD6_chr5_266646_319974	317814	AACCCTGC others(16): Show AACCCTGCACCTCCCCCAACAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	360	0.0028	-23	c.33 others(34): Show c.3300_*3322delACCCTGCACCTCCCCCAACAGCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		2841		chr5	TogoVar
PDCD6_chr5_266646_319974	318859	CTGGAGGC others(16): Show CTGGAGGCCCATGAAGAGCAGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	360	0.0028	-23	c.43 others(34): Show c.4345_*4367delTGGAGGCCCATGAAGAGCAGCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3886		chr5	TogoVar
PDE11A_chr2_177618244_178077777	178066958	CAGATTAT others(16): Show CAGATTATGTAGCTGGCCCTACTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0009 a0005c0021t0009	a0005c0021t0009g0105 a0005c0021t0009g0105	1	170	0.0059	-23	c.912 others(40): Show c.912+4545_912+4567delAAGTAGGGCCAGCTACATAATCT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	1/19			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31786934	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0239 a0001c0003t0004g0239	1	262	0.0038	-23	c.189 others(44): Show c.1892-11225_1892-11203delGATAGATAGATAGATAGATAGAT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31876447	CATAGAAA others(16): Show CATAGAAAAGAGGCTTCAATTTGG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	262	0.0038	-23	c.492 others(40): Show c.492+1500_492+1522delCCAAATTGAAGCCTCTTTTCTAT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	5/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31900973	TTTAAACA others(16): Show TTTAAACAATTACATAGTAAACCA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03486.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0007 a0001c0005t0003 a0001c0005t0007	a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0007g0001 others(2): Show a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0007g0001 a0001c0005t0007g0003 a0001c0005t0007g0004	5	262	0.0191	-23	c.129 others(42): Show c.129-20136_129-20114delTGGTTTACTATGTAATTGTTTAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	32027607	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	262	0.0038	-23	c.128 others(42): Show c.128+23924_128+23946delTTTTTTTTTTTTTTTTTTTTTTT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	32043169	AAAAGCAT others(16): Show AAAAGCATCAATAGTGCCATGGTT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	262	0.0038	-23	c.128 others(40): Show c.128+8362_128+8384delAACCATGGCACTATTGATGCTTT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	32066725	AACAAAAA others(16): Show AACAAAAAAGTAATTCAGAGGGAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01255.hp1 others(12): Show HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01884.hp1 HG02559.hp1 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 a0001c0005t0003 a0001c0006t0003 a0001c0009t0003 a0001c0009t0015 a0001c0018t0002	a0001c0001t0001g0013 a0001c0001t0002g0011 a0001c0001t0002g0015 others(12): Show a0001c0001t0001g0013 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0261 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0002t0003g0127 a0001c0002t0006g0017 a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0006t0003g0010 a0001c0009t0003g0007 a0001c0009t0015g0008 a0001c0018t0002g0009	15	262	0.0573	-23	c.101 others(40): Show c.101+3545_101+3567delGTCCCTCTGAATTACTTTTTTGT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	1/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20370389	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01257.hp2 others(1): Show HG00099.hp1 HG00099.hp2 HG01257.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0034 others(1): Show a0001c0001t0005 a0001c0001t0020 a0001c0001t0034 a0001c0001t0036	a0001c0001t0005g0005 a0001c0001t0020g0006 a0001c0001t0034g0004 others(1): Show a0001c0001t0005g0005 a0001c0001t0020g0006 a0001c0001t0034g0004 a0001c0001t0036g0007	4	198	0.0202	-23	c.960 others(38): Show c.960+164_960+186delTGTTTTTTTTTTTTTGTTTTTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20400379	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0135 a0001c0001t0104g0135	1	198	0.0051	-23	c.960 others(42): Show c.960+30158_960+30180delTTTTTTTTTTTTTTTTTTTTTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20467933	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	198	0.0051	-23	c.961 others(42): Show c.961-88702_961-88680delAAAAAAAAAAAAAAAAAAAAAAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE6C_chr10_93607537_93671010	93622642	TTTTTTTT others(16): Show TTTTTTTTGTTTTTTTTTTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02922.hp1 others(3): Show HG02615.hp2 HG02630.hp2 HG02922.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0013 a0002c0004 a0004c0013	a0002c0004t0001 a0004c0013t0001 a0002c0004t0001 a0004c0013t0001	a0002c0004t0001g0005 a0002c0004t0001g0364 a0002c0004t0001g0365 others(2): Show a0002c0004t0001g0005 a0002c0004t0001g0364 a0002c0004t0001g0365 a0002c0004t0001g0366 a0004c0013t0001g0085	6	384	0.0156	-23	c.864 others(38): Show c.864+578_864+600delGTTTTTTTTTTTGTTGTTTTTTT	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE8A_chr15_84976856_85144142	84982131	CCCGCCAG others(16): Show CCCGCCAGCGTGTCCGCGGCGCCG	C C	start_retained_variant start_retained_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	344	0.0029	-23	c.-23 others(29): Show c.-23_-1delGTGTCCGCGGCGCCGCCGCCAGC	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDGFA_chr7_492258_524846	495093	CTGGGGCC others(16): Show CTGGGGCCCAGCCCACCCCTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	302	0.0033	-23	c.34 others(34): Show c.3448_*3470delCCCCAGGGGTGGGCTGGGCCCCA	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		2164		chr7	TogoVar
PDGFA_chr7_492258_524846	497951	AAAAAAAA others(16): Show AAAAAAAACAAAAAAAAAAAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0021 a0001c0002t0053g0021	1	302	0.0033	-23	c.59 others(32): Show c.590_*612delGTTTTTTTTTTTTTTGTTTTTTT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	6/6	590		chr7	TogoVar
PDGFA_chr7_492258_524846	504294	GGAGAGGC others(16): Show GGAGAGGCCCGGCCCGAGGATGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0275 a0001c0001t0022g0275	1	302	0.0033	-23	c.454 others(40): Show c.454-3075_454-3053delTTCATCCTCGGGCCGGGCCTCTC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar

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