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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
PCDH15_chr10_53816099_54806231	53822122	CGTT CGTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG02622.hp2 HG03486.hp1 others(3): Show HG02486.hp1 HG02622.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG04184.hp2	a0016 a0021 a0023 others(3): Show a0016 a0021 a0023 a0026 a0030 a0031	a0016c0043 a0021c0038 a0023c0048 others(3): Show a0016c0043 a0021c0038 a0023c0048 a0026c0026 a0030c0028 a0031c0032	a0016c0043t0004 a0021c0038t0004 a0023c0048t0007 others(3): Show a0016c0043t0004 a0021c0038t0004 a0023c0048t0007 a0026c0026t0001 a0030c0028t0001 a0031c0032t0001	a0016c0043t0004g0058 a0021c0038t0004g0007 a0023c0048t0007g0002 others(3): Show a0016c0043t0004g0058 a0021c0038t0004g0007 a0023c0048t0007g0002 a0026c0026t0001g0056 a0030c0028t0001g0044 a0031c0032t0001g0072	6	94	0.0638	-3	c.560 others(12): Show c.5601_5603delAAC	p.Thr others(7): Show p.Thr1868del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	33/33	5938/6962	5601/5868	1867/1955		chr10	TogoVar
PCDH15_chr10_53816099_54806231	53822383	GGGAGGAG others(56): Show GGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAA GAGGAGCAGGAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp2 HG03130.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0008 a0027c0027t0008	a0027c0027t0008g0039 a0027c0027t0008g0039	1	94	0.0106	-63	c.528 others(72): Show c.5280_5342delTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTC TCCTTTTTCTCTTTTTTGTCCTCCTCC	p.Ala others(15): Show p.Ala1761_Pro1781del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	33/33	5677/6962	5280/5868	1760/1955		chr10	TogoVar
PCDHAC2_chr5_140961476_141017347	140966860	TTGCTGC TTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02109.hp2 HG02486.hp1 others(7): Show HG01884.hp2 HG02109.hp2 HG02486.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0008 others(1): Show a0002c0006 a0002c0007 a0002c0008 a0002c0010	a0002c0006t0006 a0002c0007t0001 a0002c0008t0001 others(1): Show a0002c0006t0006 a0002c0007t0001 a0002c0008t0001 a0002c0010t0001	a0002c0006t0006g0011 a0002c0006t0006g0012 a0002c0006t0006g0013 others(7): Show a0002c0006t0006g0011 a0002c0006t0006g0012 a0002c0006t0006g0013 a0002c0007t0001g0014 a0002c0007t0001g0015 a0002c0007t0001g0016 a0002c0008t0001g0168 a0002c0008t0001g0279 a0002c0008t0001g0292 a0002c0010t0001g0119	10	324	0.0309	-6	c.102 others(13): Show c.102_107delGCTGCT	p.Leu others(11): Show p.Leu35_Leu36del	PCDHAC2	ENSG00000243232.6	transcript	ENST00000289269.7	protein_coding	1/4	393/5725	102/3024	34/1007	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHB10_chr5_141187353_141200647	141194596	CAGGCCG CAGGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(225): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(11): Show a0002 a0003 a0005 a0008 a0013 a0014 a0017 a0022 a0023 a0024 a0025 a0026 a0028 a0032	a0002c0002 a0002c0042 a0002c0043 others(26): Show a0002c0002 a0002c0042 a0002c0043 a0002c0044 a0002c0045 a0002c0046 a0003c0004 a0003c0008 a0003c0013 a0003c0014 a0003c0018 a0003c0020 a0003c0022 a0003c0048 a0003c0050 a0003c0053 a0005c0005 a0005c0024 a0008c0011 a0013c0019 a0014c0051 a0017c0049 a0022c0038 a0023c0047 a0024c0040 a0025c0041 a0026c0039 a0028c0037 a0032c0054	a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 others(30): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 a0002c0042t0001 a0002c0043t0001 a0002c0044t0001 a0002c0045t0001 a0002c0046t0001 a0003c0004t0001 a0003c0004t0007 a0003c0004t0008 a0003c0008t0001 a0003c0013t0001 a0003c0014t0001 a0003c0018t0004 a0003c0020t0001 a0003c0022t0001 a0003c0048t0001 a0003c0050t0001 a0003c0053t0001 a0005c0005t0001 a0005c0024t0001 a0008c0011t0001 a0013c0019t0001 a0014c0051t0001 a0017c0049t0001 a0022c0038t0001 a0023c0047t0005 a0024c0040t0001 a0025c0041t0001 a0026c0039t0001 a0028c0037t0001 a0032c0054t0011	a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0002t0009g0000 others(30): Show a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0002t0009g0000 a0002c0042t0001g0000 a0002c0043t0001g0000 a0002c0044t0001g0000 a0002c0045t0001g0000 a0002c0046t0001g0000 a0003c0004t0001g0000 a0003c0004t0007g0000 a0003c0004t0008g0000 a0003c0008t0001g0000 a0003c0013t0001g0000 a0003c0014t0001g0000 a0003c0018t0004g0000 a0003c0020t0001g0000 a0003c0022t0001g0000 a0003c0048t0001g0000 a0003c0050t0001g0000 a0003c0053t0001g0000 a0005c0005t0001g0000 a0005c0024t0001g0000 a0008c0011t0001g0000 a0013c0019t0001g0000 a0014c0051t0001g0000 a0017c0049t0001g0000 a0022c0038t0001g0000 a0023c0047t0005g0000 a0024c0040t0001g0000 a0025c0041t0001g0000 a0026c0039t0001g0000 a0028c0037t0001g0000 a0032c0054t0011g0000	228	456	0.5000	-6	c.205 others(15): Show c.2052_2057delGGCCGA	p.Glu others(13): Show p.Glu684_Ala685del	PCDHB10	ENSG00000120324.9	transcript	ENST00000239446.6	protein_coding	1/1	2252/3295	2052/2403	684/800	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHB16_chr5_141177387_141191226	141183558	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01071.hp1 HG03225.hp1 HG01069.hp1 HG01071.hp1 HG03225.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0000 a0010c0014t0002g0000	3	452	0.0066	-3	c.100 others(12): Show c.1002_1004delCCT	p.Leu others(6): Show p.Leu335del	PCDHB16	ENSG00000272674.4	transcript	ENST00000609684.3	protein_coding	1/1	1175/3840	1002/2331	334/776	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141387924	CTGCCAG CTGCCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp1 HG01192.hp1 HG01891.hp2 others(3): Show HG01081.hp1 HG01192.hp1 HG01891.hp2 HG02109.hp1 HG03491.hp2 HG03492.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0002 a0003c0005t0001g0044 a0003c0005t0001g0045 others(3): Show a0003c0005t0001g0002 a0003c0005t0001g0044 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048	6	294	0.0204	-6	c.44_ others(11): Show c.44_49delCAGTGC	p.Pro others(11): Show p.Pro15_Val16del	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/4	231/4761	44/2772	15/923	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCNT_chr21_46319156_46450769	46334557	GTGGGATG others(32): Show GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01516.hp2 HG01516.hp2	a0069 a0069	a0069c0089 a0069c0089	a0069c0089t0001 a0069c0089t0001	a0069c0089t0001g0244 a0069c0089t0001g0244	1	332	0.0030	-39	c.467 others(46): Show c.467_505delATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAG C	p.His others(13): Show p.His156_Gln168del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	3/47	540/10526	467/10011	156/3336	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX3_chr11_65610776_65642439	65636776	ACCTCAGC others(5): Show ACCTCAGCCTCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02280.hp2 HG02572.hp1 others(4): Show HG02258.hp1 HG02280.hp2 HG02572.hp1 HG03041.hp2 HG03139.hp1 HG03491.hp2 HG06807.hp1	a0004 a0016 a0004 a0016	a0004c0007 a0016c0041 a0004c0007 a0016c0041	a0004c0007t0006 a0016c0041t0001 a0004c0007t0006 a0016c0041t0001	a0004c0007t0006g0012 a0004c0007t0006g0059 a0016c0041t0001g0002 a0004c0007t0006g0012 a0004c0007t0006g0059 a0016c0041t0001g0002	7	396	0.0177	-12	c.592 others(21): Show c.5924_5935delTCAGCCTCAGCC	p.Leu others(15): Show p.Leu1975_Ser1978del	PCNX3	ENSG00000197136.5	transcript	ENST00000355703.4	protein_coding	35/35	6460/7102	5924/6105	1975/2034	INFO_REALIGN_3_PRIME	chr11	TogoVar
PCSK6_chr15_101298933_101494707	101489563	GGCGCCCC others(2): Show GGCGCCCCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG01358.hp2 HG01884.hp2 others(29): Show HG01243.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0002 a0006 a0019 a0002 a0006 a0019	a0002c0008 a0002c0016 a0002c0017 others(10): Show a0002c0008 a0002c0016 a0002c0017 a0002c0018 a0002c0031 a0002c0032 a0002c0034 a0002c0035 a0006c0020 a0006c0021 a0006c0029 a0006c0030 a0019c0033	a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 others(14): Show a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0017t0001 a0002c0017t0003 a0002c0018t0001 a0002c0018t0013 a0002c0031t0001 a0002c0032t0003 a0002c0034t0001 a0002c0035t0007 a0006c0020t0001 a0006c0021t0001 a0006c0021t0002 a0006c0029t0001 a0006c0030t0001 a0019c0033t0001	a0002c0008t0001g0015 a0002c0008t0001g0018 a0002c0008t0001g0020 others(29): Show a0002c0008t0001g0015 a0002c0008t0001g0018 a0002c0008t0001g0020 a0002c0008t0001g0022 a0002c0008t0001g0026 a0002c0008t0001g0029 a0002c0008t0002g0014 a0002c0008t0002g0016 a0002c0008t0002g0023 a0002c0008t0002g0027 a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 a0002c0016t0001g0013 a0002c0017t0001g0030 a0002c0017t0001g0033 a0002c0017t0003g0021 a0002c0017t0003g0024 a0002c0018t0001g0017 a0002c0018t0001g0025 a0002c0018t0013g0031 a0002c0031t0001g0008 a0002c0032t0003g0009 a0002c0034t0001g0019 a0002c0035t0007g0032 a0006c0020t0001g0005 a0006c0020t0001g0007 a0006c0021t0001g0004 a0006c0021t0002g0002 a0006c0029t0001g0006 a0006c0030t0001g0003 a0019c0033t0001g0028	32	336	0.0952	-9	c.99_ others(15): Show c.99_107delGGGGGGCGC	p.Gly others(11): Show p.Gly34_Ala36del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/22	144/4272	99/2910	33/969		chr15	TogoVar
PDLIM7_chr5_177478394_177502604	177492556	CAGGCCCG others(5): Show CAGGCCCGGATCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp2 NA18982.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0157 a0009c0024t0001g0157	1	440	0.0023	-12	c.206 others(19): Show c.206_217delAGATCCGGGCCT	p.Lys others(17): Show p.Lys69_Cys73delinsSer	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	3/13	305/1712	206/1374	69/457		chr5	TogoVar
PDXDC1_chr16_14970026_15043332	15035995	GTCTGTCT others(19): Show GTCTGTCTGCCCTTTCTGTAGGCCAGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0066 a0010c0013t0001g0066	1	279	0.0036	-26	c.210 others(38): Show c.2108-20_2113delTCTGTCTGCCCTTTCTGTAGGCCAGA	p.Gly others(19): Show p.Gly703_Lys705delinsGlu	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	23/23		2108/2367	703/788		chr16	TogoVar
PDZD7_chr10_101002679_101036129	101010546	GCGGCTGC others(17): Show GCGGCTGCGGCTACGGCTGCGGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0002 a0019c0027t0002	a0019c0027t0002g0325 a0019c0027t0002g0325	1	432	0.0023	-24	c.231 others(33): Show c.2319_2342delTAGCCGCAGCCGTAGCCGCAGCCG	p.Ser others(13): Show p.Ser774_Arg781del	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	15/17	2564/4112	2319/3102	773/1033		chr10	TogoVar
PELP1_chr17_4664774_4709137	4672027	GGGAGGCA others(5): Show GGGAGGCAGAGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG02129.hp2 NA18955.hp2 others(6): Show HG00423.hp2 HG02129.hp2 NA18955.hp2 NA18979.hp1 NA18981.hp2 NA18990.hp1 NA18991.hp2 NA19083.hp2 NA19090.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0014 a0003c0005t0001g0112 a0003c0005t0001g0158 others(5): Show a0003c0005t0001g0014 a0003c0005t0001g0112 a0003c0005t0001g0158 a0003c0005t0001g0169 a0003c0005t0001g0175 a0003c0005t0001g0184 a0003c0005t0001g0190 a0003c0005t0001g0193	9	316	0.0285	-12	c.295 others(21): Show c.2952_2963delAGCTCTGCCTCC	p.Ala others(13): Show p.Ala985_Pro988del	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	16/17	2989/5084	2952/3393	984/1130		chr17	TogoVar
PELP1_chr17_4664774_4709137	4672141	ATCC ATCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02809.hp2 HG02976.hp2 others(2): Show HG02258.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2	a0004 a0004	a0004c0009 a0004c0017 a0004c0018 a0004c0009 a0004c0017 a0004c0018	a0004c0009t0007 a0004c0017t0007 a0004c0018t0007 a0004c0009t0007 a0004c0017t0007 a0004c0018t0007	a0004c0009t0007g0025 a0004c0009t0007g0026 a0004c0009t0007g0027 others(2): Show a0004c0009t0007g0025 a0004c0009t0007g0026 a0004c0009t0007g0027 a0004c0017t0007g0021 a0004c0018t0007g0022	5	316	0.0158	-3	c.284 others(12): Show c.2847_2849delGGA	p.Glu others(6): Show p.Glu949del	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	16/17	2875/5084	2847/3393	949/1130		chr17	TogoVar
PENK_chr8_56435957_56451641	56441740	CTTCATGA others(14): Show CTTCATGAAGCCTCCATACCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG02056.hp2 HG02622.hp2 others(2): Show HG01109.hp1 HG02056.hp2 HG02622.hp2 HG03098.hp1 NA18906.hp2	a0003 a0003	a0003c0005 a0003c0015 a0003c0005 a0003c0015	a0003c0005t0001 a0003c0015t0001 a0003c0005t0001 a0003c0015t0001	a0003c0005t0001g0012 a0003c0015t0001g0054 a0003c0005t0001g0012 a0003c0015t0001g0054	5	436	0.0115	-21	c.315 others(28): Show c.315_335delAAGGTATGGAGGCTTCATGAA	p.Arg others(13): Show p.Arg106_Lys112del	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding	4/4	467/1251	315/804	105/267		chr8	TogoVar
PER3_chr1_7779291_7850177	7830003	CAGGATCG others(47): Show CAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCACACTG TCCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0208 a0013c0023t0001g0208	1	410	0.0024	-54	c.305 others(63): Show c.3057_3110delAGGATCGCCTCCCATGAAGAATCCATCCCATCCTAC TGCCAGCACACTGTCCAT	p.Gly others(15): Show p.Gly1020_Met1037del	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	19/22	3367/6365	3057/3633	1019/1210		chr1	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAG AGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(144): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2	a0002 a0006 a0012 others(2): Show a0002 a0006 a0012 a0013 a0014	a0002c0002 a0002c0011 a0002c0019 others(4): Show a0002c0002 a0002c0011 a0002c0019 a0006c0008 a0012c0018 a0013c0013 a0014c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0027 a0002c0002t0030 a0002c0002t0051 a0002c0011t0001 a0002c0019t0001 a0006c0008t0001 a0006c0008t0049 a0012c0018t0001 a0013c0013t0001 a0014c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0012 others(24): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0030 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0002g0011 a0002c0002t0004g0002 a0002c0002t0006g0001 a0002c0002t0009g0022 a0002c0002t0011g0001 a0002c0002t0018g0011 a0002c0002t0019g0001 a0002c0002t0020g0001 a0002c0002t0027g0001 a0002c0002t0030g0001 a0002c0002t0051g0001 a0002c0011t0001g0001 a0002c0019t0001g0018 a0006c0008t0001g0001 a0006c0008t0001g0036 a0006c0008t0049g0001 a0012c0018t0001g0001 a0013c0013t0001g0001 a0014c0012t0001g0040	147	378	0.3889	-3	c.140 others(10): Show c.140_142delAGG	p.Glu others(5): Show p.Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	218/1926	140/804	47/267	INFO_REALIGN_3_PRIME	chr16	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAGGAG AGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG01516.hp1 others(4): Show HG00099.hp1 HG00099.hp2 HG01516.hp1 HG01517.hp2 HG03942.hp2 NA19240.hp1 NA20905.hp2	a0004 a0004	a0004c0005 a0004c0020 a0004c0005 a0004c0020	a0004c0005t0001 a0004c0005t0004 a0004c0005t0013 others(1): Show a0004c0005t0001 a0004c0005t0004 a0004c0005t0013 a0004c0020t0014	a0004c0005t0001g0001 a0004c0005t0004g0002 a0004c0005t0013g0001 others(1): Show a0004c0005t0001g0001 a0004c0005t0004g0002 a0004c0005t0013g0001 a0004c0020t0014g0007	7	378	0.0185	-6	c.137 others(13): Show c.137_142delAGGAGG	p.Glu others(11): Show p.Glu46_Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	215/1926	137/804	46/267	INFO_REALIGN_3_PRIME	chr16	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAGGAGG others(5): Show AGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp2 HG01257.hp2 HG01258.hp2 others(13): Show HG00621.hp2 HG01257.hp2 HG01258.hp2 HG02080.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18956.hp2 NA18966.hp2 NA19011.hp2 NA19012.hp1 NA19063.hp1 NA19065.hp1 NA19086.hp1	a0003 a0003	a0003c0004 a0003c0021 a0003c0004 a0003c0021	a0003c0004t0002 a0003c0004t0037 a0003c0021t0034 a0003c0004t0002 a0003c0004t0037 a0003c0021t0034	a0003c0004t0002g0003 a0003c0004t0002g0013 a0003c0004t0037g0025 others(1): Show a0003c0004t0002g0003 a0003c0004t0002g0013 a0003c0004t0037g0025 a0003c0021t0034g0003	16	378	0.0423	-12	c.131 others(19): Show c.131_142delAGGAGGAGGAGG	p.Glu others(11): Show p.Glu44_Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	209/1926	131/804	44/267	INFO_REALIGN_3_PRIME	chr16	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAGGAGG others(8): Show AGAGGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18998.hp2 NA19065.hp2 NA18998.hp2 NA19065.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0013 a0008c0010t0001 a0008c0010t0013	a0008c0010t0001g0001 a0008c0010t0013g0001 a0008c0010t0001g0001 a0008c0010t0013g0001	2	378	0.0053	-15	c.128 others(22): Show c.128_142delAGGAGGAGGAGGAGG	p.Glu others(11): Show p.Glu43_Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	206/1926	128/804	43/267	INFO_REALIGN_3_PRIME	chr16	TogoVar
PGBD5_chr1_230309490_230431332	230425752	GGAGGCGG others(14): Show GGAGGCGGCCGAGGAGGAGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0008 a0006c0009t0002g0008	1	288	0.0035	-21	c.156 others(28): Show c.156_176delGCGCTCCTCCTCGGCCGCCTC	p.Arg others(11): Show p.Arg53_Ser59del	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/7	580/10914	156/1575	52/524		chr1	TogoVar
PHC1_chr12_8909509_8946467	8932728	CGCAGCA CGCAGCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG03209.hp1 HG03453.hp2 others(3): Show HG02559.hp2 HG03209.hp1 HG03453.hp2 HG06807.hp2 NA18522.hp2 NA21309.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0009 a0004c0008t0002g0216 a0004c0008t0002g0009 a0004c0008t0002g0216	6	368	0.0163	-6	c.128 others(15): Show c.1284_1289delGCAGCA	p.Gln others(13): Show p.Gln429_Gln430del	PHC1	ENSG00000111752.11	transcript	ENST00000544916.6	protein_coding	8/15	1651/5390	1284/3015	428/1004	INFO_REALIGN_3_PRIME	chr12	TogoVar
PHF8_chrX_53931680_54049473	53940367	TGAG TGAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 HG02647.hp1 HG02809.hp2 others(1): Show HG02559.hp1 HG02647.hp1 HG02809.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0004 a0002c0006t0004 a0002c0002t0004 a0002c0006t0004	a0002c0002t0004g0147 a0002c0002t0004g0148 a0002c0002t0004g0163 others(1): Show a0002c0002t0004g0147 a0002c0002t0004g0148 a0002c0002t0004g0163 a0002c0006t0004g0149	4	186	0.0215	-3	c.279 others(12): Show c.2796_2798delCTC	p.Ser others(6): Show p.Ser933del	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	21/22	3602/6357	2796/3075	932/1024		chrX	TogoVar
PHLDA1_chr12_76020447_76036776	76031157	TTGC TTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(456): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0010 a0002c0002 others(7): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0004c0005 a0006c0007 a0007c0012 a0008c0011 a0010c0008 a0011c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(154): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0016 a0002c0002t0025 a0002c0002t0065 a0003c0003t0002 a0003c0003t0007 a0003c0003t0011 a0004c0005t0001 a0006c0007t0015 a0007c0012t0084 a0008c0011t0001 a0010c0008t0028 a0011c0006t0053	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(180): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0154 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0069 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0176 a0001c0001t0004g0003 a0001c0001t0004g0026 a0001c0001t0004g0174 a0001c0001t0005g0007 a0001c0001t0005g0011 a0001c0001t0006g0014 a0001c0001t0006g0022 a0001c0001t0006g0027 a0001c0001t0007g0006 a0001c0001t0007g0028 a0001c0001t0008g0013 a0001c0001t0008g0029 a0001c0001t0008g0038 a0001c0001t0009g0009 a0001c0001t0009g0039 a0001c0001t0010g0008 a0001c0001t0010g0070 a0001c0001t0010g0093 a0001c0001t0011g0033 a0001c0001t0011g0041 a0001c0001t0012g0016 a0001c0001t0012g0083 a0001c0001t0013g0040 a0001c0001t0013g0046 a0001c0001t0013g0175 a0001c0001t0014g0015 a0001c0001t0015g0020 a0001c0001t0016g0045 a0001c0001t0016g0068 a0001c0001t0017g0019 a0001c0001t0018g0021 a0001c0001t0019g0024 a0001c0001t0020g0025 a0001c0001t0021g0031 a0001c0001t0021g0130 a0001c0001t0022g0034 a0001c0001t0023g0032 a0001c0001t0024g0047 a0001c0001t0024g0168 a0001c0001t0025g0049 a0001c0001t0026g0035 a0001c0001t0027g0036 a0001c0001t0028g0061 a0001c0001t0029g0037 a0001c0001t0030g0043 a0001c0001t0031g0044 a0001c0001t0032g0048 a0001c0001t0033g0096 a0001c0001t0033g0169 a0001c0001t0034g0051 a0001c0001t0035g0052 a0001c0001t0036g0053 a0001c0001t0037g0054 a0001c0001t0038g0055 a0001c0001t0039g0056 a0001c0001t0040g0057 a0001c0001t0041g0058 a0001c0001t0042g0059 a0001c0001t0043g0060 a0001c0001t0044g0062 a0001c0001t0045g0063 a0001c0001t0046g0064 a0001c0001t0047g0065 a0001c0001t0048g0066 a0001c0001t0049g0067 a0001c0001t0050g0050 a0001c0001t0051g0071 a0001c0001t0052g0106 a0001c0001t0054g0107 a0001c0001t0055g0156 a0001c0001t0056g0108 a0001c0001t0057g0109 a0001c0001t0058g0110 a0001c0001t0059g0173 a0001c0001t0060g0084 a0001c0001t0061g0085 a0001c0001t0062g0157 a0001c0001t0063g0086 a0001c0001t0064g0087 a0001c0001t0066g0088 a0001c0001t0067g0089 a0001c0001t0068g0158 a0001c0001t0069g0111 a0001c0001t0070g0159 a0001c0001t0071g0160 a0001c0001t0072g0090 a0001c0001t0073g0161 a0001c0001t0074g0162 a0001c0001t0075g0163 a0001c0001t0076g0091 a0001c0001t0077g0092 a0001c0001t0078g0164 a0001c0001t0079g0165 a0001c0001t0080g0155 a0001c0001t0081g0166 a0001c0001t0082g0167 a0001c0001t0083g0094 a0001c0001t0085g0095 a0001c0001t0086g0112 a0001c0001t0087g0113 a0001c0001t0088g0114 a0001c0001t0089g0115 a0001c0001t0090g0170 a0001c0001t0091g0116 a0001c0001t0092g0117 a0001c0001t0093g0118 a0001c0001t0094g0119 a0001c0001t0095g0120 a0001c0001t0096g0121 a0001c0001t0097g0122 a0001c0001t0098g0123 a0001c0001t0099g0124 a0001c0001t0100g0125 a0001c0001t0101g0126 a0001c0001t0102g0127 a0001c0001t0103g0097 a0001c0001t0104g0171 a0001c0001t0105g0128 a0001c0001t0106g0129 a0001c0001t0107g0131 a0001c0001t0109g0132 a0001c0001t0110g0082 a0001c0001t0111g0133 a0001c0001t0112g0134 a0001c0001t0114g0135 a0001c0001t0115g0136 a0001c0001t0116g0137 a0001c0001t0117g0138 a0001c0001t0118g0139 a0001c0001t0119g0140 a0001c0001t0120g0172 a0001c0001t0121g0141 a0001c0001t0122g0142 a0001c0001t0123g0143 a0001c0001t0124g0144 a0001c0001t0125g0145 a0001c0001t0126g0146 a0001c0001t0127g0147 a0001c0001t0128g0148 a0001c0001t0129g0149 a0001c0001t0130g0150 a0001c0001t0131g0151 a0001c0001t0132g0152 a0001c0001t0133g0153 a0001c0001t0134g0098 a0001c0001t0135g0099 a0001c0001t0136g0100 a0001c0001t0137g0101 a0001c0001t0138g0102 a0001c0001t0139g0103 a0001c0001t0140g0104 a0001c0001t0141g0105 a0001c0001t0142g0177 a0001c0010t0001g0080 a0002c0002t0001g0185 a0002c0002t0002g0075 a0002c0002t0004g0074 a0002c0002t0005g0023 a0002c0002t0006g0030 a0002c0002t0008g0073 a0002c0002t0009g0042 a0002c0002t0016g0183 a0002c0002t0025g0186 a0002c0002t0065g0184 a0003c0003t0002g0018 a0003c0003t0007g0181 a0003c0003t0011g0182 a0004c0005t0001g0072 a0006c0007t0015g0077 a0007c0012t0084g0178 a0008c0011t0001g0081 a0010c0008t0028g0078 a0011c0006t0053g0076	459	462	0.9935	-3	c.582 others(10): Show c.582_584delGCA	p.Gln others(6): Show p.Gln195del	PHLDA1	ENSG00000139289.15	transcript	ENST00000266671.10	protein_coding	1/2	619/5913	582/1206	194/401		chr12	TogoVar
PHLPP1_chr18_62710541_62985433	62979014	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02451.hp2 HG02647.hp1 others(4): Show HG02280.hp1 HG02451.hp2 HG02647.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0159 others(4): Show a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0159 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0006t0001g0163 a0002c0006t0001g0164	7	192	0.0365	-3	c.474 others(12): Show c.4743_4745delGCA	p.Gln others(7): Show p.Gln1581del	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	17/17	4886/6299	4743/5154	1581/1717	INFO_REALIGN_3_PRIME	chr18	TogoVar
PHOX2A_chr11_72234077_72249176	72240115	GGCGCCCG others(2): Show GGCGCCCGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02280.hp1 HG02615.hp1 others(4): Show HG01884.hp2 HG02280.hp1 HG02615.hp1 HG02965.hp1 HG03516.hp2 NA18906.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0018 a0002c0002t0003g0017 a0002c0002t0003g0020 others(1): Show a0002c0002t0001g0018 a0002c0002t0003g0017 a0002c0002t0003g0020 a0002c0002t0003g0036	7	366	0.0191	-9	c.480 others(16): Show c.480_488delGGCGGGCGC	p.Ala others(13): Show p.Ala161_Ala163del	PHOX2A	ENSG00000165462.5	transcript	ENST00000298231.5	protein_coding	3/3	660/1699	480/855	160/284		chr11	TogoVar
PHOX2B_chr4_41739082_41753725	41745972	AGCTGCCG others(8): Show AGCTGCCGCCGCTGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02155.hp2 NA19070.hp1 NA19076.hp1 HG02155.hp2 NA19070.hp1 NA19076.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0017 a0002c0005t0001 a0002c0005t0017	a0002c0005t0001g0021 a0002c0005t0017g0039 a0002c0005t0001g0021 a0002c0005t0017g0039	3	382	0.0079	-15	c.765 others(22): Show c.765_779delGGCAGCGGCGGCAGC	p.Ala others(13): Show p.Ala256_Ala260del	PHOX2B	ENSG00000109132.7	transcript	ENST00000226382.4	protein_coding	3/3	894/2785	765/945	255/314		chr4	TogoVar
PHOX2B_chr4_41739082_41753725	41745975	TGCCGCCG others(14): Show TGCCGCCGCTGCCGCTGCCGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 NA18941.hp2 NA18952.hp2 HG02602.hp1 NA18941.hp2 NA18952.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0034 a0003c0004t0002g0017 a0003c0004t0001g0034 a0003c0004t0002g0017	3	382	0.0079	-21	c.756 others(28): Show c.756_776delGGCGGCAGCGGCAGCGGCGGC	p.Ala others(13): Show p.Ala253_Ala259del	PHOX2B	ENSG00000109132.7	transcript	ENST00000226382.4	protein_coding	3/3	891/2785	756/945	252/314		chr4	TogoVar
PHRF1_chr11_571470_617222	608502	CGGACGCG others(5): Show CGGACGCGCTCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01168.hp1 HG01169.hp1 others(21): Show HG00639.hp2 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0003 a0006 a0009 others(2): Show a0003 a0006 a0009 a0013 a0016	a0003c0004 a0006c0008 a0009c0012 others(3): Show a0003c0004 a0006c0008 a0009c0012 a0013c0021 a0013c0022 a0016c0020	a0003c0004t0003 a0006c0008t0004 a0006c0008t0010 others(4): Show a0003c0004t0003 a0006c0008t0004 a0006c0008t0010 a0009c0012t0003 a0013c0021t0008 a0013c0022t0008 a0016c0020t0009	a0003c0004t0003g0025 a0003c0004t0003g0083 a0003c0004t0003g0084 others(21): Show a0003c0004t0003g0025 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0164 a0003c0004t0003g0174 a0003c0004t0003g0175 a0003c0004t0003g0177 a0003c0004t0003g0190 a0003c0004t0003g0216 a0003c0004t0003g0222 a0003c0004t0003g0250 a0003c0004t0003g0269 a0006c0008t0004g0080 a0006c0008t0004g0081 a0006c0008t0004g0121 a0006c0008t0004g0178 a0006c0008t0004g0247 a0006c0008t0010g0068 a0009c0012t0003g0067 a0009c0012t0003g0082 a0009c0012t0003g0176 a0013c0021t0008g0251 a0013c0022t0008g0123 a0016c0020t0009g0249	24	279	0.0860	-12	c.305 others(21): Show c.3059_3070delGGACGCGCTCTG	p.Gly others(15): Show p.Gly1020_Ser1023del	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	14/18	3203/5539	3059/4950	1020/1649	INFO_REALIGN_3_PRIME	chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88731800	AATGGCCT others(8): Show AATGGCCTGGCGGTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp1 HG00558.hp1	a0063 a0063	a0063c0109 a0063c0109	a0063c0109t0001 a0063c0109t0001	a0063c0109t0001g0138 a0063c0109t0001g0138	1	282	0.0036	-15	c.308 others(24): Show c.3087_3101delGCACCGCCAGGCCAT	p.Arg others(21): Show p.Arg1029_Ile1034delinsSer	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/51	3357/8089	3087/7566	1029/2521		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88733964	GTCC GTCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG01891.hp1 HG02055.hp1 others(15): Show HG00639.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1	a0007 a0022 a0023 others(7): Show a0007 a0022 a0023 a0029 a0044 a0045 a0046 a0077 a0086 a0091	a0007c0014 a0007c0140 a0007c0141 others(9): Show a0007c0014 a0007c0140 a0007c0141 a0022c0038 a0023c0037 a0029c0028 a0044c0134 a0045c0138 a0046c0139 a0077c0112 a0086c0076 a0091c0146	a0007c0014t0003 a0007c0140t0001 a0007c0141t0003 others(10): Show a0007c0014t0003 a0007c0140t0001 a0007c0141t0003 a0022c0038t0003 a0023c0037t0012 a0029c0028t0001 a0029c0028t0010 a0044c0134t0003 a0045c0138t0001 a0046c0139t0003 a0077c0112t0014 a0086c0076t0001 a0091c0146t0003	a0007c0014t0003g0021 a0007c0014t0003g0023 a0007c0014t0003g0024 others(15): Show a0007c0014t0003g0021 a0007c0014t0003g0023 a0007c0014t0003g0024 a0007c0014t0003g0025 a0007c0140t0001g0212 a0007c0141t0003g0011 a0022c0038t0003g0013 a0022c0038t0003g0014 a0023c0037t0012g0268 a0023c0037t0012g0269 a0029c0028t0001g0221 a0029c0028t0010g0004 a0044c0134t0003g0015 a0045c0138t0001g0272 a0046c0139t0003g0022 a0077c0112t0014g0030 a0086c0076t0001g0176 a0091c0146t0003g0019	18	282	0.0638	-3	c.226 others(12): Show c.2268_2270delGGA	p.Glu others(6): Show p.Glu756del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	17/51	2526/8089	2268/7566	756/2521		chr16	TogoVar
PILRB_chr7_100353117_100372831	100359505	GCCT GCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00639.hp1 others(29): Show HG00099.hp2 HG00140.hp2 HG00639.hp1 HG01106.hp1 HG01106.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02165.hp1 HG02451.hp2 HG02602.hp2 HG02698.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03654.hp2 NA18953.hp2 NA18964.hp1 NA18987.hp2 NA19030.hp2 NA19066.hp1 NA19084.hp1 NA20129.hp2 NA20905.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0007 a0002c0002 a0003c0003 a0004c0007	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(4): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0003c0003t0004 a0004c0007t0006	a0002c0002t0002g0006 a0002c0002t0002g0023 a0002c0002t0002g0090 others(13): Show a0002c0002t0002g0006 a0002c0002t0002g0023 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0089 a0002c0002t0004g0096 a0002c0002t0005g0024 a0002c0002t0005g0033 a0002c0002t0006g0032 a0002c0002t0009g0092 a0003c0003t0004g0024 a0003c0003t0004g0033 a0004c0007t0006g0032	32	382	0.0838	-3	c.633 others(10): Show c.633_635delCCT	p.Leu others(6): Show p.Leu212del	PILRB	ENSG00000121716.21	transcript	ENST00000609309.3	protein_coding	3/4	819/1324	633/684	211/227	INFO_REALIGN_3_PRIME	chr7	TogoVar
PINX1_chr8_10759961_10844875	10765413	TTTC TTTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG02818.hp2 HG02965.hp2 HG02559.hp2 HG02818.hp2 HG02965.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0010 a0005c0010t0001 a0005c0010t0010	a0005c0010t0001g0037 a0005c0010t0001g0038 a0005c0010t0010g0330 a0005c0010t0001g0037 a0005c0010t0001g0038 a0005c0010t0010g0330	3	352	0.0085	-3	c.972 others(10): Show c.972_974delGAA	p.Lys others(6): Show p.Lys325del	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	7/7	1093/1546	972/987	324/328		chr8	TogoVar
PIP5K1C_chr19_3625183_3705468	3648693	GGGGATCC others(50): Show GGGGATCCCGCCCATCCTGGGGAGAGAGGCCGAGGGTACCATCAGCATCC CGCAGAGC	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0135 a0004c0009t0001g0135	1	332	0.0030	-57	c.112 others(69): Show c.1128-42_1142delGCTCTGCGGGATGCTGATGGTACCCTCGGCCTC TCTCCCCAGGATGGGCGGGATCCC	p.Met others(13): Show p.Met377_Pro381del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	9/18	1220/5069	1128/2007	376/668		chr19	TogoVar
PKDREJ_chr22_46250663_46268343	46262985	ACGAGCG ACGAGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01243.hp2 HG01433.hp1 others(51): Show HG00639.hp2 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0007 a0013 a0014 a0015 a0016	a0002c0004 a0002c0006 a0002c0008 others(9): Show a0002c0004 a0002c0006 a0002c0008 a0002c0012 a0004c0005 a0005c0007 a0007c0010 a0007c0021 a0013c0023 a0014c0020 a0015c0022 a0016c0024	a0002c0004t0002 a0002c0006t0002 a0002c0008t0002 others(10): Show a0002c0004t0002 a0002c0006t0002 a0002c0008t0002 a0002c0012t0002 a0004c0005t0003 a0004c0005t0004 a0005c0007t0002 a0007c0010t0004 a0007c0021t0002 a0013c0023t0001 a0014c0020t0002 a0015c0022t0008 a0016c0024t0002	a0002c0004t0002g0000 a0002c0006t0002g0000 a0002c0008t0002g0000 others(10): Show a0002c0004t0002g0000 a0002c0006t0002g0000 a0002c0008t0002g0000 a0002c0012t0002g0000 a0004c0005t0003g0000 a0004c0005t0004g0000 a0005c0007t0002g0000 a0007c0010t0004g0000 a0007c0021t0002g0000 a0013c0023t0001g0000 a0014c0020t0002g0000 a0015c0022t0008g0000 a0016c0024t0002g0000	54	304	0.1776	-6	c.332 others(13): Show c.332_337delCGCTCG	p.Ala others(13): Show p.Ala111_Leu112del	PKDREJ	ENSG00000130943.7	transcript	ENST00000253255.7	protein_coding	1/1	358/7681	332/6762	111/2253		chr22	TogoVar
PLBD1_chr12_14498661_14572883	14567620	GGCA GGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0007 others(7): Show a0001 a0002 a0007 a0008 a0010 a0012 a0013 a0016 a0017 a0018	a0001c0001 a0001c0004 a0001c0024 others(11): Show a0001c0001 a0001c0004 a0001c0024 a0002c0002 a0002c0005 a0002c0020 a0007c0008 a0008c0010 a0010c0013 a0012c0015 a0013c0016 a0016c0021 a0017c0022 a0018c0023	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0024t0001 a0002c0002t0001 a0002c0005t0001 a0002c0020t0001 a0007c0008t0001 a0008c0010t0001 a0010c0013t0001 a0012c0015t0001 a0013c0016t0001 a0016c0021t0001 a0017c0022t0001 a0018c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0055 others(232): Show a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0003g0171 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0059 a0001c0004t0001g0061 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0076 a0001c0004t0001g0078 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0104 a0001c0004t0001g0107 a0001c0004t0001g0113 a0001c0004t0001g0121 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0138 a0001c0004t0001g0170 a0001c0004t0001g0223 a0001c0004t0001g0254 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0263 a0001c0004t0001g0264 a0001c0024t0001g0271 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0054 a0002c0002t0001g0065 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0005t0001g0007 a0002c0005t0001g0051 a0002c0005t0001g0053 a0002c0005t0001g0062 a0002c0005t0001g0063 a0002c0005t0001g0068 a0002c0005t0001g0085 a0002c0005t0001g0086 a0002c0005t0001g0087 a0002c0005t0001g0090 a0002c0005t0001g0091 a0002c0005t0001g0092 a0002c0005t0001g0097 a0002c0005t0001g0120 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0245 a0002c0005t0001g0246 a0002c0005t0001g0251 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0258 a0002c0005t0001g0259 a0002c0005t0001g0275 a0002c0020t0001g0155 a0007c0008t0001g0004 a0007c0008t0001g0075 a0007c0008t0001g0102 a0007c0008t0001g0105 a0007c0008t0001g0106 a0007c0008t0001g0109 a0007c0008t0001g0110 a0007c0008t0001g0111 a0007c0008t0001g0114 a0007c0008t0001g0116 a0007c0008t0001g0118 a0007c0008t0001g0119 a0007c0008t0001g0125 a0007c0008t0001g0126 a0007c0008t0001g0136 a0007c0008t0001g0137 a0007c0008t0001g0231 a0008c0010t0001g0073 a0008c0010t0001g0103 a0008c0010t0001g0108 a0008c0010t0001g0115 a0008c0010t0001g0117 a0008c0010t0001g0127 a0008c0010t0001g0216 a0010c0013t0001g0112 a0010c0013t0001g0123 a0010c0013t0001g0124 a0012c0015t0001g0074 a0012c0015t0001g0122 a0013c0016t0001g0134 a0013c0016t0001g0135 a0016c0021t0001g0146 a0017c0022t0001g0143 a0018c0023t0001g0069	241	360	0.6694	-3	c.74_ others(8): Show c.74_76delTGC	p.Leu others(5): Show p.Leu25del	PLBD1	ENSG00000121316.11	transcript	ENST00000240617.10	protein_coding	1/11	263/1960	74/1662	25/553		chr12	TogoVar
PLEKHG5_chr1_6462122_6496667	6469122	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01175.hp1 HG01496.hp2 others(33): Show HG01074.hp2 HG01175.hp1 HG01496.hp2 HG01515.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp2 NA18522.hp2 NA18906.hp1 NA21309.hp1	a0003 a0004 a0025 a0003 a0004 a0025	a0003c0004 a0003c0012 a0003c0028 others(6): Show a0003c0004 a0003c0012 a0003c0028 a0004c0007 a0004c0010 a0004c0011 a0004c0033 a0004c0035 a0025c0017	a0003c0004t0002 a0003c0012t0002 a0003c0028t0002 others(6): Show a0003c0004t0002 a0003c0012t0002 a0003c0028t0002 a0004c0007t0002 a0004c0010t0002 a0004c0011t0002 a0004c0033t0002 a0004c0035t0001 a0025c0017t0002	a0003c0004t0002g0026 a0003c0004t0002g0027 a0003c0004t0002g0068 others(28): Show a0003c0004t0002g0026 a0003c0004t0002g0027 a0003c0004t0002g0068 a0003c0004t0002g0134 a0003c0004t0002g0154 a0003c0004t0002g0162 a0003c0004t0002g0163 a0003c0004t0002g0169 a0003c0004t0002g0170 a0003c0004t0002g0174 a0003c0004t0002g0175 a0003c0004t0002g0176 a0003c0012t0002g0114 a0003c0012t0002g0115 a0003c0012t0002g0120 a0003c0028t0002g0173 a0004c0007t0002g0019 a0004c0007t0002g0073 a0004c0007t0002g0075 a0004c0007t0002g0076 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0010t0002g0020 a0004c0010t0002g0105 a0004c0010t0002g0107 a0004c0011t0002g0030 a0004c0011t0002g0183 a0004c0011t0002g0184 a0004c0033t0002g0106 a0004c0035t0001g0100 a0025c0017t0002g0121	36	288	0.1250	-3	c.216 others(12): Show c.2166_2168delGGA	p.Glu others(6): Show p.Glu723del	PLEKHG5	ENSG00000171680.23	transcript	ENST00000377728.8	protein_coding	19/21	2286/3580	2166/3021	722/1006		chr1	TogoVar
PLEKHG5_chr1_6462122_6496667	6469122	TTCCTCC TTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp2 HG01169.hp2 HG02027.hp1 others(5): Show HG01167.hp2 HG01169.hp2 HG02027.hp1 HG02293.hp1 HG03195.hp1 HG03540.hp2 HG04115.hp2 NA19240.hp1	a0007 a0013 a0007 a0013	a0007c0006 a0013c0037 a0007c0006 a0013c0037	a0007c0006t0001 a0013c0037t0001 a0007c0006t0001 a0013c0037t0001	a0007c0006t0001g0022 a0007c0006t0001g0031 a0007c0006t0001g0042 others(3): Show a0007c0006t0001g0022 a0007c0006t0001g0031 a0007c0006t0001g0042 a0007c0006t0001g0142 a0007c0006t0001g0171 a0013c0037t0001g0056	8	288	0.0278	-6	c.216 others(15): Show c.2163_2168delGGAGGA	p.Glu others(13): Show p.Glu722_Glu723del	PLEKHG5	ENSG00000171680.23	transcript	ENST00000377728.8	protein_coding	19/21	2286/3580	2163/3021	721/1006		chr1	TogoVar
PLEKHH2_chr2_43632260_43772987	43765562	AAGC AAGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG01099.hp2 HG01884.hp2 others(10): Show HG00642.hp1 HG01099.hp2 HG01884.hp2 HG02559.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp2 NA21309.hp2	a0004 a0008 a0009 others(2): Show a0004 a0008 a0009 a0010 a0021	a0004c0010 a0004c0038 a0008c0017 others(3): Show a0004c0010 a0004c0038 a0008c0017 a0009c0021 a0010c0019 a0021c0052	a0004c0010t0005 a0004c0010t0006 a0004c0038t0006 others(4): Show a0004c0010t0005 a0004c0010t0006 a0004c0038t0006 a0008c0017t0006 a0009c0021t0005 a0010c0019t0005 a0021c0052t0006	a0004c0010t0005g0092 a0004c0010t0005g0094 a0004c0010t0005g0095 others(10): Show a0004c0010t0005g0092 a0004c0010t0005g0094 a0004c0010t0005g0095 a0004c0010t0006g0135 a0004c0010t0006g0206 a0004c0038t0006g0093 a0008c0017t0006g0162 a0008c0017t0006g0211 a0009c0021t0005g0253 a0009c0021t0005g0254 a0010c0019t0005g0071 a0010c0019t0005g0073 a0021c0052t0006g0144	13	256	0.0508	-3	c.445 others(12): Show c.4452_4454delCAG	p.Ser others(7): Show p.Ser1484del	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding	30/30	4575/6994	4452/4482	1484/1493	INFO_REALIGN_3_PRIME	chr2	TogoVar
PLIN4_chr19_4497192_4523486	4511029	TCCTTTGG others(191): Show TCCTTTGGCCACATTCACTGCCCCCGTGACTCCAGTAGTCACTGCATCCT TAGCGCCACTCAGCACCGTCTTGGCTGTGTCCACACCTGTCTGGACGGTC CCTTTGGCCACATTTACGGCACCAGTGACTCCACTGCAGACGGTGTCCTT GGTACCGGTCAGGACAGTCTTGCTGGTGTCCACGCCGGTCTGGACAGTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03453.hp2 HG03453.hp2	a0112 a0112	a0112c0058 a0112c0058	a0112c0058t0004 a0112c0058t0004	a0112c0058t0004g0061 a0112c0058t0004g0061	1	412	0.0024	-198	c.273 others(9): Show c.2733_2930del	p.Thr others(13): Show p.Thr912_Gly977del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	3049/6502	2733/4116	911/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511239	GTTCACAG others(389): Show GTTCACAGCCCCTGTGAGCCCAGTGGACACGGCATCTTTAGTGCCAGTCA GGACAGACTTTGTAGTGTCCAGGCCCCCCTGGACGGCCCCTTTGGCCACT TTCGCAGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTGTACCTGTTGC GATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCCTTGGCCACGT TCGCAGCACCGGTGACCCCACTGCAGACAGTGTCCTTGGTACCGGTCAGC ACGGTCTTGGCCGTGTCTACACCCATCTGGACGGCCCCCTTGGCCACATT CGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACA CAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02818.hp1 HG02818.hp1	a0113 a0113	a0113c0066 a0113c0066	a0113c0066t0027 a0113c0066t0027	a0113c0066t0027g0082 a0113c0066t0027g0082	1	412	0.0024	-396	c.232 others(9): Show c.2325_2720del	p.Lys others(13): Show p.Lys775_Val906del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2839/6502	2325/4116	775/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511338	TTTCGCAG others(389): Show TTTCGCAGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTGTACCTGTTG CGATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCCTTGGCCACG TTCGCAGCACCGGTGACCCCACTGCAGACAGTGTCCTTGGTACCGGTCAG CACGGTCTTGGCCGTGTCTACACCCATCTGGACGGCCCCCTTGGCCACAT TCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAAC ACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTT CACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGA CAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCTTTGGCCACA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01978.hp2 HG02055.hp1 HG04199.hp2 others(1): Show HG01978.hp2 HG02055.hp1 HG04199.hp2 NA21309.hp1	a0061 a0069 a0072 others(1): Show a0061 a0069 a0072 a0104	a0061c0118 a0069c0106 a0072c0100 others(1): Show a0061c0118 a0069c0106 a0072c0100 a0104c0055	a0061c0118t0001 a0069c0106t0001 a0072c0100t0001 others(1): Show a0061c0118t0001 a0069c0106t0001 a0072c0100t0001 a0104c0055t0008	a0061c0118t0001g0236 a0069c0106t0001g0136 a0072c0100t0001g0130 others(1): Show a0061c0118t0001g0236 a0069c0106t0001g0136 a0072c0100t0001g0130 a0104c0055t0008g0059	4	412	0.0097	-396	c.222 others(9): Show c.2226_2621del	p.Asn others(13): Show p.Asn742_Ala873del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2740/6502	2226/4116	742/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511635	CTTCACAG others(785): Show CTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCA GGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCTTTGGCCACA TTCGCAGCACCGGTCACCCCACTGCAGACGGTGTCCTTGGTACCAGTTAG GACAGTCTTGGTGGTGTCCACACTGGTCTGGACAGTCCCTTTGGCGACAT TCACTGCCCCCATGAGCCCAGTAGTGACTGTGTCCTTGGTGCCGGTCAGC ACGGTCTTGGCCGTGTCTACACCTGTCTGGGCAGCCCCTTTGGCCACATT CACAGCACTGGTCACCCCACTGCCAAAGGTGTTCTTTGTACCTGTCGCGA TATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCCCCCTTGGCCACGTTC ACGGCACTGGTGACCCCACTGTAGATGGTGTCCTTGGTACCGGTTAGGAC AGTTTTGGTGGTGTCCATGCCTGTCTGGACGGTCCCTTTGGCGACATTCA CTGCCCCCACGAGCCCAGTAGTCACTGTGTCCTTGGTGCCGGTCAGCACG GTCTTGGCTGTGTCTACACCTGTCTGGACAGCCCCCTTGGCCACATTCGC TGCCCCCGTGAGCCCAGTGGACATCGTGTCTTTTGTACCTATGACCACAG ACTTGGTGGTGTCCAGGCCCCCCTGGACGGCCCCTTTGGCCACGTTCACA GCACTGGTCACCCCACTGCAGACGGTGTCCTTGGTGCCGGTTAGGACAGT CTTGGTGGTGTCTACGCCGGTCTGGACGGTCCCTTTGGCCACG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19057.hp2 NA19057.hp2	a0071 a0071	a0071c0101 a0071c0101	a0071c0101t0001 a0071c0101t0001	a0071c0101t0001g0131 a0071c0101t0001g0131	1	412	0.0024	-792	c.153 others(9): Show c.1533_2324del	p.Asn others(13): Show p.Asn511_Val774del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2443/6502	1533/4116	511/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512587	GTGGTGTC others(488): Show GTGGTGTCCACGCCTGTCTGGATGGTTCCTCTGGCCAAATTCATGGCACC AGTCACCCCACTGCAGACGGTGTCCTTTGTACCTGTTGCGATATTTTGGG TTGTGTTCAGCCCAGTTTGCATGGCCCCCTTGGCCACATTCGCTGCCCCT GTGAGCCCAGTGGACATCGTGTCTTTCGTACCCATGACCATAGACTTGGT GGTATCCAGGCCCCCCTGGATGGCCTCTTTGGCCAAGTTCACGGCACCGG TCACCCCACTGCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTG GTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGT CACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGG TGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTC ACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp1 HG01070.hp2 HG01071.hp2 others(33): Show HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG04204.hp2 NA19043.hp1 NA20752.hp2 NA21309.hp2	a0007 a0010 a0025 others(16): Show a0007 a0010 a0025 a0026 a0043 a0054 a0101 a0102 a0103 a0104 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114	a0007c0010 a0007c0057 a0007c0059 others(21): Show a0007c0010 a0007c0057 a0007c0059 a0007c0070 a0010c0009 a0025c0028 a0025c0073 a0026c0018 a0043c0063 a0043c0064 a0054c0145 a0101c0072 a0102c0074 a0103c0071 a0104c0055 a0106c0068 a0107c0067 a0108c0065 a0109c0060 a0110c0062 a0111c0061 a0112c0058 a0113c0066 a0114c0056	a0007c0010t0004 a0007c0057t0004 a0007c0059t0004 others(23): Show a0007c0010t0004 a0007c0057t0004 a0007c0059t0004 a0007c0070t0004 a0010c0009t0001 a0010c0009t0007 a0010c0009t0014 a0025c0028t0004 a0025c0073t0008 a0026c0018t0008 a0043c0063t0024 a0043c0064t0011 a0054c0145t0007 a0101c0072t0002 a0102c0074t0002 a0103c0071t0004 a0104c0055t0008 a0106c0068t0001 a0107c0067t0004 a0108c0065t0007 a0109c0060t0004 a0110c0062t0033 a0111c0061t0035 a0112c0058t0004 a0113c0066t0027 a0114c0056t0004	a0007c0010t0004g0005 a0007c0010t0004g0062 a0007c0057t0004g0060 others(27): Show a0007c0010t0004g0005 a0007c0010t0004g0062 a0007c0057t0004g0060 a0007c0059t0004g0056 a0007c0070t0004g0064 a0010c0009t0001g0085 a0010c0009t0007g0088 a0010c0009t0007g0089 a0010c0009t0007g0090 a0010c0009t0014g0086 a0010c0009t0014g0087 a0025c0028t0004g0027 a0025c0073t0008g0058 a0026c0018t0008g0012 a0043c0063t0024g0080 a0043c0064t0011g0063 a0054c0145t0007g0092 a0101c0072t0002g0065 a0102c0074t0002g0095 a0103c0071t0004g0077 a0104c0055t0008g0059 a0106c0068t0001g0084 a0107c0067t0004g0083 a0108c0065t0007g0081 a0109c0060t0004g0057 a0110c0062t0033g0301 a0111c0061t0035g0079 a0112c0058t0004g0061 a0113c0066t0027g0082 a0114c0056t0004g0078	36	412	0.0874	-495	c.878 others(8): Show c.878_1372del	p.Ser others(13): Show p.Ser293_Thr457del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1491/6502	878/4116	293/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512847	GCAGACAG others(191): Show GCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGC CGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA CAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGGTGTCCACGCC GGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02559.hp1 HG02572.hp2 others(11): Show HG01884.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0013 a0044 a0045 others(7): Show a0013 a0044 a0045 a0046 a0047 a0053 a0088 a0089 a0090 a0091	a0013c0026 a0013c0079 a0013c0148 others(9): Show a0013c0026 a0013c0079 a0013c0148 a0044c0163 a0045c0164 a0046c0165 a0047c0162 a0053c0147 a0088c0076 a0089c0077 a0090c0075 a0091c0078	a0013c0026t0006 a0013c0079t0006 a0013c0148t0006 others(9): Show a0013c0026t0006 a0013c0079t0006 a0013c0148t0006 a0044c0163t0012 a0045c0164t0012 a0046c0165t0001 a0047c0162t0004 a0053c0147t0001 a0088c0076t0004 a0089c0077t0031 a0090c0075t0004 a0091c0078t0001	a0013c0026t0006g0013 a0013c0079t0006g0066 a0013c0148t0006g0067 others(9): Show a0013c0026t0006g0013 a0013c0079t0006g0066 a0013c0148t0006g0067 a0044c0163t0012g0069 a0045c0164t0012g0070 a0046c0165t0001g0071 a0047c0162t0004g0068 a0053c0147t0001g0305 a0088c0076t0004g0076 a0089c0077t0031g0306 a0090c0075t0004g0302 a0091c0078t0001g0285	14	412	0.0340	-198	c.915 others(8): Show c.915_1112del	p.Ser others(13): Show p.Ser306_Cys371del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1231/6502	915/4116	305/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512884	GTGGTGTC others(92): Show GTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACC AGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00741.hp2 HG01074.hp1 others(39): Show HG00423.hp2 HG00741.hp2 HG01074.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01993.hp2 HG02109.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03490.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19082.hp1 NA19091.hp1 NA20300.hp2	a0004 a0006 a0017 others(7): Show a0004 a0006 a0017 a0028 a0038 a0083 a0084 a0085 a0086 a0087	a0004c0004 a0004c0013 a0006c0005 others(9): Show a0004c0004 a0004c0013 a0006c0005 a0006c0030 a0017c0017 a0028c0042 a0038c0045 a0083c0083 a0084c0084 a0085c0082 a0086c0081 a0087c0080	a0004c0004t0002 a0004c0004t0003 a0004c0013t0003 others(12): Show a0004c0004t0002 a0004c0004t0003 a0004c0013t0003 a0006c0005t0001 a0006c0005t0003 a0006c0030t0001 a0006c0030t0015 a0017c0017t0001 a0028c0042t0004 a0038c0045t0013 a0083c0083t0001 a0084c0084t0004 a0085c0082t0001 a0086c0081t0015 a0087c0080t0018	a0004c0004t0002g0118 a0004c0004t0002g0168 a0004c0004t0002g0169 others(26): Show a0004c0004t0002g0118 a0004c0004t0002g0168 a0004c0004t0002g0169 a0004c0004t0003g0002 a0004c0004t0003g0038 a0004c0004t0003g0170 a0004c0013t0003g0171 a0004c0013t0003g0172 a0004c0013t0003g0173 a0004c0013t0003g0174 a0006c0005t0001g0007 a0006c0005t0001g0029 a0006c0005t0001g0165 a0006c0005t0001g0166 a0006c0005t0003g0016 a0006c0030t0001g0117 a0006c0030t0015g0116 a0017c0017t0001g0044 a0017c0017t0001g0263 a0017c0017t0001g0264 a0028c0042t0004g0265 a0028c0042t0004g0266 a0038c0045t0013g0293 a0038c0045t0013g0294 a0083c0083t0001g0175 a0084c0084t0004g0176 a0085c0082t0001g0167 a0086c0081t0015g0115 a0087c0080t0018g0303	42	412	0.1019	-99	c.977 others(107): Show c.977_1075delGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCTG TAGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCG GCGTGGACACCA	p.Ser others(13): Show p.Ser326_Thr358del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1194/6502	977/4116	326/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512884	GTGGTGTC others(191): Show GTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACC AGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCA GTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp2 HG02071.hp2	a0055 a0055	a0055c0146 a0055c0146	a0055c0146t0003 a0055c0146t0003	a0055c0146t0003g0262 a0055c0146t0003g0262	1	412	0.0024	-198	c.878 others(8): Show c.878_1075del	p.Ser others(13): Show p.Ser293_Thr358del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1194/6502	878/4116	293/1371		chr19	TogoVar
PLSCR1_chr3_146510180_146549607	146528692	AACTGGCT others(8): Show AACTGGCTGATTATAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0178 a0004c0006t0001g0178	1	342	0.0029	-15	c.219 others(22): Show c.219_233delATATAATCAGCCAGT	p.Tyr others(11): Show p.Tyr74_Val78del	PLSCR1	ENSG00000188313.13	transcript	ENST00000342435.9	protein_coding	4/9	387/1976	219/957	73/318		chr3	TogoVar
PMFBP1_chr16_72114097_72177155	72129192	ATCT ATCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG03041.hp2 HG03130.hp2 HG02486.hp1 HG03041.hp2 HG03130.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0075 a0006c0007t0001g0076 a0006c0007t0001g0077 a0006c0007t0001g0075 a0006c0007t0001g0076 a0006c0007t0001g0077	3	344	0.0087	-3	c.182 others(12): Show c.1821_1823delAGA	p.Glu others(6): Show p.Glu607del	PMFBP1	ENSG00000118557.16	transcript	ENST00000237353.15	protein_coding	13/21	1985/3427	1821/3024	607/1007		chr16	TogoVar
PNMA6E_chrX_153390639_153406350	153397984	ACAGCTCC others(11): Show ACAGCTCCTGCCTCACCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0001 a0018c0030t0001	a0018c0030t0001g0086 a0018c0030t0001g0086	1	346	0.0029	-18	c.848 others(25): Show c.848_865delCAGGTGAGGCAGGAGCTG	p.Ala others(13): Show p.Ala283_Ala288del	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1043/3389	848/1944	283/647		chrX	TogoVar

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Search Results (Total: 1873 hits)