Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
PDZD8_chr10_117272274_117380440	117370918	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0100 a0001c0002t0039g0100	1	322	0.0031	20	c.872 others(37): Show c.872+3418_872+3437dupCACACACACACACACACACA	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73402941	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA21309.hp2 HG02055.hp2 NA21309.hp2	a0004 a0005 a0004 a0005	a0004c0016 a0005c0025 a0004c0016 a0005c0025	a0004c0016t0006 a0005c0025t0001 a0004c0016t0006 a0005c0025t0001	a0004c0016t0006g0028 a0005c0025t0001g0030 a0004c0016t0006g0028 a0005c0025t0001g0030	2	216	0.0093	20	c.116 others(39): Show c.1166+1187_1166+1206dupAAAAAAAAAAAAAAAAAAAA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	4/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73452839	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG02280.hp1 others(5): Show HG01074.hp2 HG01515.hp2 HG02280.hp1 HG02615.hp2 HG02886.hp2 HG03098.hp1 HG03831.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0013 a0001c0023	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 a0001c0006t0001 a0001c0013t0004 a0001c0023t0001	a0001c0001t0002g0051 a0001c0001t0002g0157 a0001c0002t0001g0148 others(5): Show a0001c0001t0002g0051 a0001c0001t0002g0157 a0001c0002t0001g0148 a0001c0002t0002g0031 a0001c0005t0002g0210 a0001c0006t0001g0023 a0001c0013t0004g0195 a0001c0023t0001g0109	8	216	0.0370	20	c.919 others(39): Show c.919-48464_919-48445dupCACACACACACACACACACA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73562983	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01884.hp1 others(8): Show HG01167.hp1 HG01243.hp1 HG01884.hp1 HG02129.hp1 HG02895.hp2 HG03098.hp2 HG03669.hp1 NA19009.hp2 NA19011.hp1 NA19060.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0002c0003t0001 a0002c0021t0001	a0001c0001t0001g0052 a0001c0001t0002g0138 a0001c0002t0001g0103 others(8): Show a0001c0001t0001g0052 a0001c0001t0002g0138 a0001c0002t0001g0103 a0001c0002t0001g0133 a0001c0002t0002g0043 a0001c0002t0002g0054 a0001c0002t0002g0167 a0001c0002t0008g0034 a0002c0003t0001g0055 a0002c0003t0001g0089 a0002c0021t0001g0095	11	216	0.0509	20	c.918 others(39): Show c.918+39351_918+39370dupTATATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0062	1	216	0.0046	20	c.918 others(39): Show c.918+39340_918+39341insAAAATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73600337	A A	ACACACAC others(13): Show ACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0190 a0001c0010t0001g0190	1	216	0.0046	20	c.918 others(37): Show c.918+2016_918+2017insAGAGAGAGAGAGAGTGTGTG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTG others(13): Show GTTTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02148.hp1 HG02698.hp1 others(5): Show HG00438.hp2 HG02148.hp1 HG02698.hp1 NA18981.hp2 NA19056.hp2 NA19065.hp1 NA19088.hp1 NA20905.hp1	a0007 a0007	a0007c0014 a0007c0018 a0007c0045 a0007c0014 a0007c0018 a0007c0045	a0007c0014t0001 a0007c0014t0002 a0007c0018t0001 others(1): Show a0007c0014t0001 a0007c0014t0002 a0007c0018t0001 a0007c0045t0001	a0007c0014t0001g0127 a0007c0014t0001g0132 a0007c0014t0002g0130 others(5): Show a0007c0014t0001g0127 a0007c0014t0001g0132 a0007c0014t0002g0130 a0007c0014t0002g0131 a0007c0018t0001g0126 a0007c0018t0001g0128 a0007c0018t0001g0129 a0007c0045t0001g0125	8	206	0.0388	20	c.843 others(37): Show c.843+3730_843+3731insTTTTTTGTTTTGTTTTGTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(13): Show GTATACATACATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03704.hp2 NA19066.hp2 others(1): Show HG02683.hp2 HG03704.hp2 NA19066.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002	a0001c0001t0002 a0001c0004t0001 a0001c0011t0003 others(1): Show a0001c0001t0002 a0001c0004t0001 a0001c0011t0003 a0002c0002t0001	a0001c0001t0002g0061 a0001c0004t0001g0056 a0001c0011t0003g0052 others(1): Show a0001c0001t0002g0061 a0001c0004t0001g0056 a0001c0011t0003g0052 a0002c0002t0001g0184	4	206	0.0194	20	c.843 others(41): Show c.843+122864_843+122865insCATACATATATATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(13): Show GTATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG02109.hp1 others(6): Show HG00099.hp2 HG01243.hp2 HG02109.hp1 HG03130.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA19000.hp1 NA19000.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0010	a0001c0004 a0002c0002 a0002c0009 others(5): Show a0001c0004 a0002c0002 a0002c0009 a0002c0017 a0004c0003 a0004c0012 a0006c0007 a0010c0051	a0001c0004t0001 a0002c0002t0001 a0002c0009t0001 others(5): Show a0001c0004t0001 a0002c0002t0001 a0002c0009t0001 a0002c0017t0001 a0004c0003t0002 a0004c0012t0001 a0006c0007t0003 a0010c0051t0001	a0001c0004t0001g0080 a0002c0002t0001g0200 a0002c0009t0001g0172 others(6): Show a0001c0004t0001g0080 a0002c0002t0001g0200 a0002c0009t0001g0172 a0002c0009t0001g0185 a0002c0017t0001g0092 a0004c0003t0002g0057 a0004c0012t0001g0047 a0006c0007t0003g0025 a0010c0051t0001g0021	9	206	0.0437	20	c.843 others(41): Show c.843+122864_843+122865insCATATATATATATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41351980	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02055.hp1 HG02055.hp2 others(17): Show HG01169.hp1 HG02055.hp1 HG02055.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG06807.hp1 NA18522.hp1 NA18970.hp1 NA18980.hp1 NA18981.hp2 NA19010.hp1 NA19030.hp2 NA19086.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0008	a0001c0001 a0001c0010 a0001c0011 others(9): Show a0001c0001 a0001c0010 a0001c0011 a0001c0013 a0002c0002 a0002c0009 a0002c0017 a0002c0030 a0004c0003 a0005c0008 a0007c0018 a0008c0056	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0001c0010t0004 a0001c0011t0003 a0001c0013t0001 a0002c0002t0001 a0002c0009t0001 a0002c0017t0002 a0002c0030t0001 a0004c0003t0001 a0005c0008t0001 a0007c0018t0001 a0008c0056t0001	a0001c0001t0001g0119 a0001c0001t0002g0041 a0001c0001t0002g0154 others(17): Show a0001c0001t0001g0119 a0001c0001t0002g0041 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0001g0122 a0001c0010t0004g0118 a0001c0011t0003g0038 a0001c0011t0003g0052 a0001c0013t0001g0085 a0002c0002t0001g0099 a0002c0009t0001g0166 a0002c0017t0002g0019 a0002c0030t0001g0090 a0004c0003t0001g0067 a0004c0003t0001g0108 a0005c0008t0001g0182 a0007c0018t0001g0129 a0008c0056t0001g0160	20	206	0.0971	20	c.844 others(41): Show c.844-154468_844-154449dupTAAATAAATAAATAAATAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41446245	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp1 others(11): Show HG01167.hp1 HG01169.hp2 HG01243.hp1 HG02257.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG04115.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0013	a0001c0013 a0002c0002 a0002c0016 others(6): Show a0001c0013 a0002c0002 a0002c0016 a0002c0024 a0003c0031 a0004c0003 a0005c0008 a0008c0026 a0013c0062	a0001c0013t0001 a0002c0002t0002 a0002c0016t0001 others(6): Show a0001c0013t0001 a0002c0002t0002 a0002c0016t0001 a0002c0024t0002 a0003c0031t0001 a0004c0003t0001 a0005c0008t0001 a0008c0026t0001 a0013c0062t0001	a0001c0013t0001g0068 a0002c0002t0002g0164 a0002c0016t0001g0186 others(11): Show a0001c0013t0001g0068 a0002c0002t0002g0164 a0002c0016t0001g0186 a0002c0016t0001g0187 a0002c0024t0002g0133 a0002c0024t0002g0134 a0003c0031t0001g0001 a0004c0003t0001g0081 a0005c0008t0001g0012 a0005c0008t0001g0161 a0005c0008t0001g0203 a0005c0008t0001g0204 a0008c0026t0001g0147 a0013c0062t0001g0202	14	206	0.0680	20	c.844 others(39): Show c.844-60207_844-60188dupATTTATTTATTTATTTATTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41571335	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19086.hp1 NA18955.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0009 a0001c0004 a0002c0009	a0001c0004t0001 a0002c0009t0001 a0001c0004t0001 a0002c0009t0001	a0001c0004t0001g0060 a0002c0009t0001g0190 a0001c0004t0001g0060 a0002c0009t0001g0190	2	206	0.0097	20	c.158 others(38): Show c.1585-1006_1585-987dupTCTCTCTCTCTCTCTCTCTC	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77225666	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0203 a0005c0006t0011g0203	1	326	0.0031	20	c.-11 others(41): Show c.-115+26681_-115+26700dupTATATATATATATATATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	326	0.0031	20	c.-60 others(41): Show c.-602-11713_-602-11694dupAAAAAAAAAAAAAAAAAAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156892764	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00609.hp1 others(44): Show HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00741.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01952.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02698.hp1 HG03927.hp1 HG04184.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18964.hp1 NA18967.hp1 NA18975.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19080.hp2 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0009 a0013	a0001c0002 a0001c0007 a0001c0016 others(6): Show a0001c0002 a0001c0007 a0001c0016 a0001c0038 a0002c0006 a0002c0035 a0007c0015 a0009c0021 a0013c0023	a0001c0002t0003 a0001c0007t0003 a0001c0016t0003 others(6): Show a0001c0002t0003 a0001c0007t0003 a0001c0016t0003 a0001c0038t0003 a0002c0006t0005 a0002c0035t0005 a0007c0015t0005 a0009c0021t0003 a0013c0023t0003	a0001c0002t0003g0003 a0001c0002t0003g0007 a0001c0002t0003g0008 others(34): Show a0001c0002t0003g0003 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0025 a0001c0002t0003g0028 a0001c0002t0003g0057 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0078 a0001c0002t0003g0082 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0098 a0001c0002t0003g0101 a0001c0002t0003g0111 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0007t0003g0003 a0001c0007t0003g0255 a0001c0016t0003g0030 a0001c0016t0003g0104 a0001c0038t0003g0087 a0002c0006t0005g0014 a0002c0006t0005g0026 a0002c0006t0005g0060 a0002c0006t0005g0066 a0002c0006t0005g0067 a0002c0006t0005g0068 a0002c0006t0005g0069 a0002c0006t0005g0080 a0002c0035t0005g0076 a0007c0015t0005g0015 a0007c0015t0005g0107 a0009c0021t0003g0007 a0009c0021t0003g0083 a0013c0023t0003g0115	47	384	0.1224	20	c.-10 others(31): Show c.-1083_-1082insTTTTTTTTTTTTTGTTTTTG	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding		953		chr1	TogoVar
PEBP1_chr12_118131124_118150584	118133194	A A	ATTATTTT others(13): Show ATTATTTTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG03490.hp2 NA18522.hp1 others(5): Show HG00099.hp2 HG03490.hp2 NA18522.hp1 NA18981.hp2 NA18991.hp1 NA19011.hp2 NA19060.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014	a0001c0001t0004g0078 a0001c0001t0008g0046 a0001c0001t0008g0117 others(4): Show a0001c0001t0004g0078 a0001c0001t0008g0046 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0014g0116 a0001c0001t0014g0120	8	426	0.0188	20	c.-30 others(31): Show c.-3016_-3015insTTATTTTATTTTATTTTATT	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2929		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22728555	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 NA18999.hp1 HG03516.hp2 NA18906.hp2 NA18999.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0001 a0002c0002t0002 a0008c0010t0004 a0002c0002t0001 a0002c0002t0002 a0008c0010t0004	a0002c0002t0001g0043 a0002c0002t0002g0239 a0008c0010t0004g0169 a0002c0002t0001g0043 a0002c0002t0002g0239 a0008c0010t0004g0169	3	278	0.0108	20	c.358 others(37): Show c.358-1336_358-1335insGAAGGAAGGAAGGAAGGAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22728559	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01928.hp1 HG02135.hp1 others(5): Show HG00741.hp1 HG01928.hp1 HG02135.hp1 HG02809.hp2 HG03516.hp1 NA18971.hp1 NA19005.hp1 NA19009.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0012 a0003c0003 others(1): Show a0002c0002 a0002c0012 a0003c0003 a0004c0004	a0002c0002t0002 a0002c0012t0001 a0003c0003t0003 others(2): Show a0002c0002t0002 a0002c0012t0001 a0003c0003t0003 a0004c0004t0003 a0004c0004t0004	a0002c0002t0002g0223 a0002c0012t0001g0131 a0003c0003t0003g0040 others(5): Show a0002c0002t0002g0223 a0002c0012t0001g0131 a0003c0003t0003g0040 a0004c0004t0003g0053 a0004c0004t0003g0117 a0004c0004t0003g0151 a0004c0004t0004g0183 a0004c0004t0004g0224	8	278	0.0288	20	c.358 others(37): Show c.358-1359_358-1340dupGAAGGAAGGAAGGAAGGAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22728559	T T	TCTTTCTT others(13): Show TCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0037 a0005c0006t0001g0037	1	278	0.0036	20	c.358 others(37): Show c.358-1340_358-1339insGAAGGAAGGAAGGAAGAAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22728559	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0035 a0005c0006t0001g0035	1	278	0.0036	20	c.358 others(37): Show c.358-1340_358-1339insGAAGGAAGGAAGAAAGAAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22749805	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01243.hp2 HG01258.hp2 others(2): Show HG01071.hp2 HG01243.hp2 HG01258.hp2 HG01433.hp2 HG04115.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0004	a0001c0001t0001g0051 a0002c0002t0001g0092 a0002c0002t0002g0162 others(2): Show a0001c0001t0001g0051 a0002c0002t0001g0092 a0002c0002t0002g0162 a0002c0002t0002g0163 a0004c0004t0004g0255	5	278	0.0180	20	c.358 others(39): Show c.358-22586_358-22585insAAAAAAAAAAAAAAAAAAAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22765116	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01169.hp2 others(13): Show HG00639.hp1 HG01168.hp1 HG01169.hp2 HG02129.hp1 HG02738.hp2 HG02809.hp1 HG03098.hp2 NA18941.hp2 NA18951.hp1 NA18951.hp2 NA18962.hp1 NA18974.hp2 NA18983.hp2 NA18993.hp2 NA19063.hp1 NA19077.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0012 a0018	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0004c0008 a0006c0007 a0012c0028 a0018c0031	a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 a0002c0002t0001 a0002c0002t0012 a0003c0003t0003 a0003c0003t0004 a0004c0004t0003 a0004c0008t0008 a0006c0007t0004 a0012c0028t0003 a0018c0031t0001	a0001c0001t0001g0101 a0001c0001t0001g0144 a0001c0001t0001g0145 others(13): Show a0001c0001t0001g0101 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0002g0181 a0001c0001t0002g0235 a0001c0001t0002g0241 a0001c0005t0005g0012 a0002c0002t0001g0123 a0002c0002t0012g0161 a0003c0003t0003g0155 a0003c0003t0004g0260 a0004c0004t0003g0050 a0004c0008t0008g0014 a0006c0007t0004g0253 a0012c0028t0003g0061 a0018c0031t0001g0158	16	278	0.0576	20	c.358 others(39): Show c.358-37916_358-37897dupGAAGGAAGGAAGGAAGGAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22830113	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	278	0.0036	20	c.259 others(39): Show c.259-12398_259-12379dupCACACACACACACACACACA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22857241	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0034 a0003c0003t0003g0034	1	278	0.0036	20	c.259 others(39): Show c.259-39526_259-39507dupGTGTGTGTGTGTGTGTGTGT	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22860185	T T	TATATATG others(13): Show TATATATGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	278	0.0036	20	c.259 others(39): Show c.259-42451_259-42450insGTGTATATATATACATATAT	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22918929	G G	GCACATGT others(13): Show GCACATGTGCACACATGTGCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0093 a0001c0001t0001g0094	2	278	0.0072	20	c.258 others(37): Show c.258+1235_258+1254dupTGCACATGTGTGCACATGTG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64318949	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0132 a0003c0003t0006g0132	1	288	0.0035	20	c.48 others(31): Show c.4866_*4867insAAAAAAAAAAAAAAAAAAAA	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding		465		chr17	TogoVar
PECAM1_chr17_64314415_64395860	64377617	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG01891.hp2 others(2): Show HG01099.hp1 HG01884.hp2 HG01891.hp2 HG02965.hp2 NA21309.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0115 a0004c0008t0006g0116 a0004c0008t0006g0117 others(2): Show a0004c0008t0006g0115 a0004c0008t0006g0116 a0004c0008t0006g0117 a0004c0008t0006g0118 a0004c0008t0006g0119	5	288	0.0174	20	c.385 others(35): Show c.385+187_385+206dupCCTTCCTTCCTTCCTTCCTT	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	3/15			chr17	TogoVar
PECR_chr2_216033388_216086809	216074493	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18747.hp2 NA18948.hp2 others(5): Show HG00558.hp2 NA18747.hp2 NA18948.hp2 NA18952.hp1 NA18968.hp1 NA18978.hp2 NA19003.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0001c0001t0001 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0003t0003g0091 others(5): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0003t0003g0091 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0117	8	398	0.0201	20	c.124 others(37): Show c.124+7105_124+7124dupCCTTCCTTCCTTCCTTCCTT	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	1/7			chr2	TogoVar
PELP1_chr17_4664774_4709137	4668021	C C	CACACACA others(13): Show CACACACACACACACACACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0207 a0001c0001t0007g0207	1	316	0.0032	20	c.34 others(31): Show c.3417_*3418insTTGTGTGTGTGTGTGTGTGT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		1752		chr17	TogoVar
PELP1_chr17_4664774_4709137	4694497	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02809.hp2 others(2): Show HG01884.hp1 HG02615.hp1 HG02809.hp2 HG02895.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0013 a0004c0017 a0001c0002 a0001c0013 a0004c0017	a0001c0002t0005 a0001c0002t0006 a0001c0013t0015 others(1): Show a0001c0002t0005 a0001c0002t0006 a0001c0013t0015 a0004c0017t0007	a0001c0002t0005g0229 a0001c0002t0006g0228 a0001c0013t0015g0007 others(1): Show a0001c0002t0005g0229 a0001c0002t0006g0228 a0001c0013t0015g0007 a0004c0017t0007g0021	5	316	0.0158	20	c.250 others(37): Show c.250-3056_250-3055insTTTTTTTTTTTTTTTTTTTT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	1/16			chr17	TogoVar
PEMT_chr17_17500563_17596708	17586216	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	348	0.0029	20	c.96+ others(35): Show c.96+5295_96+5314dupCTTTCTTTCTTTCTTTCTTT	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PENK_chr8_56435957_56451641	56438727	T T	TGGGGGGG others(13): Show TGGGGGGGGGGGGAGTGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	436	0.0023	20	c.25 others(31): Show c.2544_*2545insCCAACACTCCCCCCCCCCCC	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding		2229		chr8	TogoVar
PEPD_chr19_33381950_33526791	33422818	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(12): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG01257.hp1 HG02055.hp1 HG02257.hp1 HG02559.hp2 HG02809.hp2 HG03453.hp1 HG03704.hp1 NA18967.hp2 NA18973.hp2 NA18989.hp1 NA19012.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0001c0001t0001 a0001c0003t0001 a0002c0002t0002	a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 others(12): Show a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0086 a0001c0003t0001g0097 a0001c0003t0001g0125 a0001c0003t0001g0285 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0184 a0002c0002t0002g0216 a0002c0002t0002g0306	15	314	0.0478	20	c.672 others(37): Show c.672-9195_672-9176dupGATAGATAGATAGATAGATA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33423095	T T	TCATCCAT others(13): Show TCATCCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01358.hp1 HG02258.hp1 others(4): Show HG00597.hp1 HG01358.hp1 HG02258.hp1 NA18975.hp2 NA19043.hp1 NA19060.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0018 a0001c0003t0001g0114 a0001c0003t0001g0115 others(4): Show a0001c0001t0001g0018 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0126 a0002c0002t0002g0094 a0002c0002t0005g0083 a0002c0002t0005g0171	7	314	0.0223	20	c.672 others(37): Show c.672-9472_672-9453dupGATGGATGGATGGATGGATG	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33431992	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	314	0.0032	20	c.672 others(39): Show c.672-18350_672-18349insTTTTTTTTTTTTTTTTTTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33432010	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0083 a0002c0002t0005g0083	1	314	0.0032	20	c.672 others(39): Show c.672-18368_672-18367insCTTTTTTTTTTTTTTTTTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33453317	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp2 HG02257.hp1 others(31): Show HG01099.hp2 HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18952.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18991.hp1 NA19079.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0014 a0002c0002 others(2): Show a0001c0001 a0001c0014 a0002c0002 a0004c0006 a0006c0010	a0001c0001t0001 a0001c0001t0004 a0001c0014t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0014t0001 a0002c0002t0002 a0004c0006t0001 a0006c0010t0002 a0006c0010t0005	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(31): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0206 a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0014t0001g0137 a0002c0002t0002g0306 a0004c0006t0001g0169 a0004c0006t0001g0173 a0004c0006t0001g0174 a0004c0006t0001g0175 a0004c0006t0001g0176 a0006c0010t0002g0040 a0006c0010t0005g0042	34	314	0.1083	20	c.671 others(37): Show c.671+9658_671+9677dupATTTATTTATTTATTTATTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33485491	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	314	0.0032	20	c.503 others(37): Show c.503+4504_503+4505insTTTTTTTTTTTTTTTTTTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	6/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01361.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG01361.hp2 NA18983.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0010 a0001c0003 a0006c0010	a0001c0003t0001 a0006c0010t0001 a0001c0003t0001 a0006c0010t0001	a0001c0003t0001g0106 a0001c0003t0001g0126 a0006c0010t0001g0124 others(1): Show a0001c0003t0001g0106 a0001c0003t0001g0126 a0006c0010t0001g0124 a0006c0010t0001g0125	4	410	0.0098	20	c.113 others(39): Show c.1137-2080_1137-2079insAAAAAAAAAAAATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	410	0.0024	20	c.113 others(39): Show c.1137-2080_1137-2079insAAAAAAAAAATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	410	0.0024	20	c.113 others(39): Show c.1137-2080_1137-2079insAAAAAAAATATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(13): Show CTTTATTTCTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0114 a0001c0001t0012g0113 a0001c0001t0001g0114 a0001c0001t0012g0113	2	408	0.0049	20	c.-26 others(31): Show c.-2692_-2691insATAAATAAATAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERP_chr6_138083505_138112419	138085105	A A	AGAGTTCC others(13): Show AGAGTTCCCATGCATACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01109.hp1 others(41): Show HG00323.hp1 HG00621.hp2 HG01109.hp1 HG01261.hp1 HG01358.hp2 HG01884.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02572.hp1 HG02735.hp1 HG03209.hp1 HG03225.hp1 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18961.hp2 NA18966.hp2 NA18968.hp1 NA18973.hp1 NA18979.hp1 NA18981.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19058.hp1 NA19062.hp1 NA19068.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0004 a0001c0001t0008 a0001c0001t0033 others(9): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0033 a0001c0001t0045 a0001c0001t0049 a0001c0001t0080 a0001c0001t0088 a0002c0002t0011 a0002c0002t0031 a0002c0002t0061 a0002c0002t0062 a0002c0008t0011	a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0023 others(22): Show a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0023 a0001c0001t0004g0043 a0001c0001t0004g0118 a0001c0001t0004g0138 a0001c0001t0004g0161 a0001c0001t0004g0193 a0001c0001t0004g0218 a0001c0001t0008g0054 a0001c0001t0033g0142 a0001c0001t0045g0148 a0001c0001t0045g0149 a0001c0001t0049g0061 a0001c0001t0080g0215 a0001c0001t0088g0150 a0002c0002t0011g0009 a0002c0002t0011g0058 a0002c0002t0011g0214 a0002c0002t0031g0067 a0002c0002t0031g0133 a0002c0002t0031g0173 a0002c0002t0061g0108 a0002c0002t0062g0121 a0002c0008t0011g0212	44	430	0.1023	20	c.69 others(31): Show c.6936_*6937insGTCAGTATGCATGGGAACTC	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		3399		chr6	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATAAATA others(13): Show AATAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01891.hp2 HG02145.hp1 others(5): Show HG00738.hp1 HG01891.hp2 HG02145.hp1 HG02486.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0021 a0002c0002t0010 a0004c0005t0074 a0001c0001t0021 a0002c0002t0010 a0004c0005t0074	a0001c0001t0021g0029 a0001c0001t0021g0051 a0002c0002t0010g0027 others(2): Show a0001c0001t0021g0029 a0001c0001t0021g0051 a0002c0002t0010g0027 a0002c0002t0010g0128 a0004c0005t0074g0251	8	430	0.0186	20	c.57 others(31): Show c.5727_*5728insATATATATATATATATTTAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02083.hp1 others(2): Show HG00597.hp1 HG00673.hp1 HG02083.hp1 HG03654.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0001c0001t0036 a0001c0001t0087 others(2): Show a0001c0001t0018 a0001c0001t0036 a0001c0001t0087 a0002c0002t0005 a0002c0002t0068	a0001c0001t0018g0017 a0001c0001t0036g0068 a0001c0001t0087g0154 others(2): Show a0001c0001t0018g0017 a0001c0001t0036g0068 a0001c0001t0087g0154 a0002c0002t0005g0020 a0002c0002t0068g0209	5	430	0.0116	20	c.57 others(31): Show c.5727_*5728insATATATATATATATATATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PET117_chr20_18132863_18148169	18138232	C C	CTGCAGCT others(13): Show CTGCAGCTCCCGGCGGGCGTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	424	0.0024	20	c.96+ others(33): Show c.96+188_96+207dupTCCCGGCGGGCGTGTGCAGC	PET117	ENSG00000232838.4	transcript	ENST00000432901.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
PEX10_chr1_2398974_2417564	2401376	C C	CCCTCCTC others(13): Show CCCTCCTCCTCCCTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0109 a0001c0006t0002g0109	1	358	0.0028	20	c.43 others(31): Show c.4389_*4390insAGGAAGGAGGGAGGAGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2597		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401396	C C	CCCTCCTT others(13): Show CCCTCCTTCCTCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	358	0.0028	20	c.43 others(31): Show c.4369_*4370insAGGAGGAGGGAGGAAGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2577		chr1	TogoVar
PEX11G_chr19_7471875_7494035	7474754	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01257.hp1 HG01258.hp1 others(19): Show HG01106.hp2 HG01257.hp1 HG01258.hp1 HG02129.hp1 HG02922.hp1 HG03098.hp1 HG03579.hp2 NA18906.hp2 NA18941.hp2 NA18947.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18985.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA19054.hp2 NA19066.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0025 others(12): Show a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0025 a0001c0002t0001g0031 a0001c0003t0001g0027 a0001c0003t0001g0052 a0001c0004t0001g0003 a0001c0004t0001g0028 a0001c0004t0001g0044 a0001c0004t0001g0049 a0001c0004t0001g0051 a0001c0004t0001g0053 a0001c0004t0001g0061 a0001c0005t0001g0006 a0001c0005t0001g0042	22	416	0.0529	20	c.24 others(31): Show c.2447_*2448insACACACACACACACACACAC	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		2120		chr19	TogoVar

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