Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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Samplehapid

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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
PACSIN2_chr22_42864773_43020149	42982887	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0273 a0001c0002t0003g0273	1	294	0.0034	15	c.-78 others(34): Show c.-78+32133_-78+32134insGTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982888	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	1	294	0.0034	15	c.-78 others(34): Show c.-78+32132_-78+32133insGTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42987530	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04184.hp2 HG00597.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0159 a0001c0001t0001g0068 a0001c0001t0002g0159	2	294	0.0068	15	c.-78 others(34): Show c.-78+27476_-78+27490dupAAAAAAAAAAAAAAA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43008701	A A	ATCCACAC others(8): Show ATCCACACCCAACTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	294	0.0034	15	c.-78 others(32): Show c.-78+6305_-78+6319dupAAAGTTGGGTGTGGA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17215378	T T	TTCATCAT others(8): Show TTCATCATCATCATCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0185 a0001c0003t0001g0185	1	406	0.0025	15	c.93- others(30): Show c.93-6909_93-6895dupATCATCATCATCATC	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI6_chr1_17367196_17406699	17398662	C C	CCCACCCA others(8): Show CCCACCCACCCACCCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0306 a0001c0016t0003g0306	1	412	0.0024	15	c.169 others(30): Show c.1690-22_1690-21insACCCACCCACCCACC	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135560545	T T	TATACACA others(8): Show TATACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	464	0.0022	15	c.-12 others(26): Show c.-1257_-1256insATACACACACACACA	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding		1210		chr9	TogoVar
PAEP_chr9_135556756_135571955	135560545	T T	TGTATACA others(8): Show TGTATACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0011 a0004c0006t0004	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0004g0011 a0001c0001t0004g0024 a0001c0001t0004g0031 a0001c0001t0006g0013 a0001c0001t0007g0023 a0001c0001t0008g0036 a0001c0001t0010g0064 a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0038 a0002c0002t0009g0020 a0002c0002t0011g0001 a0004c0006t0004g0024	344	464	0.7414	15	c.-12 others(26): Show c.-1257_-1256insGTATACACACACACA	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding		1210		chr9	TogoVar
PAFAH1B1_chr17_2588654_2690615	2593902	C C	CCCTCCCT others(8): Show CCCTCCCTCCCTCCTT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0251 a0001c0001t0034g0251	1	280	0.0036	15	c.-28 others(24): Show c.-284_-270dupTCCTTCCTCCCTCCC	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/11	44361	INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117149430	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(35): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00735.hp2 HG01074.hp2 HG01175.hp2 HG01258.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02080.hp2 HG02129.hp2 HG02257.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03704.hp1 HG04204.hp2 NA18947.hp1 NA18948.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18983.hp2 NA18990.hp1 NA19056.hp1 NA19063.hp2 NA19072.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(19): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0082	a0001c0001t0005g0004 a0001c0001t0005g0023 a0001c0001t0005g0024 others(28): Show a0001c0001t0005g0004 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0103 a0001c0001t0009g0004 a0001c0001t0009g0102 a0001c0001t0010g0268 a0001c0001t0013g0021 a0001c0001t0013g0070 a0001c0001t0016g0088 a0001c0001t0016g0089 a0001c0001t0022g0072 a0001c0001t0023g0071 a0001c0001t0023g0078 a0001c0001t0027g0100 a0001c0001t0027g0101 a0001c0001t0037g0091 a0001c0001t0038g0004 a0001c0001t0038g0098 a0001c0001t0039g0004 a0001c0001t0048g0048 a0001c0001t0049g0021 a0001c0001t0051g0045 a0001c0001t0057g0004 a0001c0001t0058g0097 a0001c0001t0059g0099 a0001c0001t0061g0092 a0001c0001t0062g0004 a0001c0001t0063g0114 a0001c0001t0066g0090 a0001c0001t0082g0081	38	432	0.0880	15	c.-7- others(30): Show c.-7-2997_-7-2996insTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117154476	G G	GGCACCAT others(8): Show GGCACCATTACAGCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02886.hp1 others(6): Show HG01243.hp1 HG02451.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03139.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0103 a0001c0001t0011 a0001c0001t0103	a0001c0001t0011g0029 a0001c0001t0011g0116 a0001c0001t0011g0117 others(5): Show a0001c0001t0011g0029 a0001c0001t0011g0116 a0001c0001t0011g0117 a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0134 a0001c0001t0011g0135 a0001c0001t0103g0205	9	432	0.0208	15	c.81+ others(30): Show c.81+1974_81+1988dupAGCTTGCACCATTAC	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168445	C C	CCGTTTGT others(8): Show CCGTTTGTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG04115.hp2 HG04184.hp1 HG02109.hp2 HG04115.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0068 a0001c0001t0041 a0001c0001t0068	a0001c0001t0041g0006 a0001c0001t0041g0076 a0001c0001t0068g0077 a0001c0001t0041g0006 a0001c0001t0041g0076 a0001c0001t0068g0077	3	432	0.0069	15	c.74 others(24): Show c.746_*747insCGTTTGTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	747		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTT others(8): Show GTTTGTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01258.hp1 HG02004.hp1 others(4): Show HG00738.hp1 HG01258.hp1 HG02004.hp1 HG02559.hp2 HG03195.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0048 a0001c0001t0085 a0001c0001t0024 a0001c0001t0048 a0001c0001t0085	a0001c0001t0024g0054 a0001c0001t0024g0055 a0001c0001t0024g0056 others(4): Show a0001c0001t0024g0054 a0001c0001t0024g0055 a0001c0001t0024g0056 a0001c0001t0024g0064 a0001c0001t0048g0048 a0001c0001t0048g0075 a0001c0001t0085g0065	7	432	0.0162	15	c.75 others(24): Show c.750_*751insGTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168456	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0211 a0001c0001t0090g0211	1	432	0.0023	15	c.77 others(24): Show c.771_*772insGTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	772	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117174164	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	432	0.0023	15	c.64 others(26): Show c.6465_*6466insGTGTGTGTGTGTGTG	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		3120		chr11	TogoVar
PAFAH2_chr1_25954767_26003063	25987237	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	310	0.0032	15	c.341 others(30): Show c.341+979_341+993dupATTTTATTTTATTTT	PAFAH2	ENSG00000158006.14	transcript	ENST00000374282.8	protein_coding	4/10			chr1	TogoVar
PAG1_chr8_80962810_81117068	81085972	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0016 a0001c0002t0025g0016	1	256	0.0039	15	c.-23 others(36): Show c.-233-15817_-233-15803dupAAAAAAAAAAAAAAA	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	1/8			chr8	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02647.hp1 HG02970.hp1 HG01993.hp2 HG02647.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0010 a0001c0001t0002g0166 a0001c0001t0006g0227 a0001c0001t0002g0010 a0001c0001t0002g0166 a0001c0001t0006g0227	3	312	0.0096	15	c.169 others(32): Show c.169-4955_169-4941dupTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102910811	T T	TCAACGTG others(8): Show TCAACGTGCTTGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show HG00741.hp1 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0002g0004 a0001c0001t0002g0009 others(10): Show a0001c0001t0001g0018 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017	14	312	0.0449	15	c.168 others(32): Show c.168+1979_168+1980insCTTTCAAGCACGTTG	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	350	0.0029	15	c.125 others(34): Show c.1253-1792_1253-1778dupTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAIP2B_chr2_71177738_71232103	71225447	A A	AACATGAT others(8): Show AACATGATGTTAAACT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19079.hp2 NA18961.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0045 a0001c0002t0003g0046	2	378	0.0053	15	c.-12 others(32): Show c.-12+1480_-12+1481insAGTTTAACATCATGT	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	1/3			chr2	TogoVar
PAIP2_chr5_139336854_139374717	139347517	A A	ACCCACCT others(8): Show ACCCACCTTGGCCTCC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	344	0.0029	15	c.-27 others(32): Show c.-27+5539_-27+5553dupCCACCTTGGCCTCCC	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAK1_chr11_77317017_77479094	77415976	G G	GTATTATT others(8): Show GTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01257.hp2 HG01261.hp2 others(12): Show HG00558.hp2 HG01257.hp2 HG01261.hp2 HG02040.hp1 HG02071.hp1 HG02155.hp1 HG02257.hp1 HG02523.hp2 HG04115.hp1 NA18972.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA19060.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0084 others(12): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0153 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0274	15	302	0.0497	15	c.-21 others(34): Show c.-21-23450_-21-23436dupATAATAATAATAATA	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02148.hp1 HG02273.hp1 others(7): Show HG02071.hp2 HG02148.hp1 HG02273.hp1 HG02683.hp1 HG02970.hp2 HG03942.hp2 HG04184.hp1 NA18945.hp2 NA18951.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0059	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0002g0097 a0001c0001t0003g0173 a0001c0002t0059g0113	10	178	0.0562	15	c.-48 others(26): Show c.-4885_-4884insAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196811335	C C	CCCTTCCC others(8): Show CCCTTCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0053 a0001c0001t0037g0053	1	178	0.0056	15	c.773 others(30): Show c.773+690_773+691insTCCCCTTCCTTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833464	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	178	0.0056	15	c.50 others(26): Show c.5059_*5060insTATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		818		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833466	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	178	0.0056	15	c.50 others(26): Show c.5061_*5062insTATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		820		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0175 a0001c0001t0040g0175	1	178	0.0056	15	c.50 others(26): Show c.5063_*5064insTATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 NA19005.hp2 HG02683.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0047 a0001c0001t0015 a0001c0001t0047	a0001c0001t0015g0005 a0001c0001t0047g0011 a0001c0001t0015g0005 a0001c0001t0047g0011	2	178	0.0112	15	c.50 others(26): Show c.5065_*5066insTATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		824		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	AAATATAT others(8): Show AAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	178	0.0056	15	c.50 others(26): Show c.5067_*5068insAATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		826		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 NA18940.hp1 NA19010.hp2 others(1): Show HG01934.hp2 NA18940.hp1 NA19010.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0002g0091 a0001c0001t0002g0095 others(1): Show a0001c0001t0001g0038 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0003g0144	4	178	0.0225	15	c.50 others(26): Show c.5067_*5068insTATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		826		chr3	TogoVar
PAK3_chrX_111091191_111232361	111160440	C C	CATTTTAT others(8): Show CATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG03540.hp2 others(1): Show HG02257.hp2 HG02970.hp2 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0031 a0001c0001t0003 a0001c0001t0022 a0001c0001t0031	a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0022g0186 others(1): Show a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0022g0186 a0001c0001t0031g0190	4	195	0.0205	15	c.469 others(32): Show c.469-2459_469-2445dupATTTTATTTTATTTT	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK3_chrX_111091191_111232361	111219235	T T	TAATAATA others(8): Show TAATAATAATAATAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	195	0.0051	15	c.154 others(34): Show c.1546-1121_1546-1120insTAATAATAATAAGAA	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK4_chr19_39120786_39184404	39148466	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01358.hp2 others(3): Show HG00544.hp2 HG00741.hp1 HG01358.hp2 HG02258.hp2 HG02622.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0005 a0001c0001t0001 a0001c0001t0002 a0002c0003t0005	a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0002g0280 others(3): Show a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0002g0280 a0001c0001t0002g0353 a0002c0003t0005g0138 a0002c0003t0005g0240	6	368	0.0163	15	c.-95 others(34): Show c.-95-19757_-95-19743dupTTTTTTTTTTTTTTT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165192	G G	GATAATAA others(8): Show GATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00597.hp2 others(13): Show HG00280.hp2 HG00544.hp1 HG00597.hp2 HG01192.hp2 HG01496.hp2 HG02145.hp1 HG02145.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02896.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0001g0081 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0274 a0001c0001t0001g0365 a0001c0001t0005g0074 a0001c0001t0005g0104 a0001c0001t0005g0162 a0001c0001t0005g0233 a0001c0001t0009g0153	16	368	0.0435	15	c.-95 others(32): Show c.-95-3036_-95-3035insAATAATAATAATAAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK5_chr20_9532370_9844076	9665929	C C	CTGGACCC others(8): Show CTGGACCCCTGGGTTA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0126 a0003c0003t0012g0126	1	208	0.0048	15	c.-11 others(34): Show c.-11-21605_-11-21591dupTAACCCAGGGGTCCA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9766386	A A	ATATATTC others(8): Show ATATATTCTACTTACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(86): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01981.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0004 a0001c0005 others(8): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0002c0001 a0002c0007 a0002c0017 a0003c0003 a0006c0014	a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 others(21): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0004t0004 a0001c0004t0015 a0001c0005t0008 a0001c0006t0002 a0001c0009t0006 a0001c0010t0019 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0011 a0002c0001t0013 a0002c0001t0014 a0002c0001t0023 a0002c0007t0001 a0002c0017t0009 a0003c0003t0003 a0003c0003t0006 a0003c0003t0012 a0003c0003t0015 a0003c0003t0024 a0006c0014t0004	a0001c0002t0002g0062 a0001c0002t0002g0129 a0001c0002t0002g0139 others(86): Show a0001c0002t0002g0062 a0001c0002t0002g0129 a0001c0002t0002g0139 a0001c0002t0002g0152 a0001c0002t0002g0167 a0001c0002t0006g0005 a0001c0002t0006g0008 a0001c0002t0006g0105 a0001c0002t0007g0068 a0001c0002t0007g0107 a0001c0004t0004g0018 a0001c0004t0004g0020 a0001c0004t0004g0046 a0001c0004t0004g0050 a0001c0004t0004g0060 a0001c0004t0004g0066 a0001c0004t0004g0108 a0001c0004t0004g0112 a0001c0004t0004g0179 a0001c0004t0004g0180 a0001c0004t0004g0193 a0001c0004t0004g0195 a0001c0004t0015g0098 a0001c0005t0008g0115 a0001c0005t0008g0116 a0001c0005t0008g0130 a0001c0006t0002g0002 a0001c0009t0006g0006 a0001c0010t0019g0082 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0027 a0002c0001t0001g0030 a0002c0001t0001g0039 a0002c0001t0001g0043 a0002c0001t0001g0048 a0002c0001t0001g0073 a0002c0001t0001g0121 a0002c0001t0001g0125 a0002c0001t0001g0133 a0002c0001t0001g0143 a0002c0001t0001g0170 a0002c0001t0001g0172 a0002c0001t0001g0177 a0002c0001t0001g0197 a0002c0001t0005g0032 a0002c0001t0005g0055 a0002c0001t0005g0067 a0002c0001t0005g0074 a0002c0001t0005g0097 a0002c0001t0005g0175 a0002c0001t0005g0176 a0002c0001t0005g0191 a0002c0001t0009g0042 a0002c0001t0009g0106 a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0011g0065 a0002c0001t0011g0100 a0002c0001t0011g0145 a0002c0001t0011g0189 a0002c0001t0013g0183 a0002c0001t0013g0190 a0002c0001t0014g0119 a0002c0001t0023g0041 a0002c0007t0001g0014 a0002c0007t0001g0028 a0002c0007t0001g0102 a0002c0007t0001g0142 a0002c0017t0009g0196 a0003c0003t0003g0025 a0003c0003t0003g0029 a0003c0003t0003g0054 a0003c0003t0003g0099 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0144 a0003c0003t0003g0199 a0003c0003t0006g0093 a0003c0003t0006g0124 a0003c0003t0012g0024 a0003c0003t0012g0057 a0003c0003t0012g0126 a0003c0003t0012g0181 a0003c0003t0015g0123 a0003c0003t0024g0182 a0006c0014t0004g0122	89	208	0.4279	15	c.-16 others(36): Show c.-161-54952_-161-54951insAGTAAGTAGAATATA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9807762	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp2 others(31): Show HG00140.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01433.hp1 HG02056.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02735.hp2 HG02895.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG04228.hp1 NA18747.hp1 NA18949.hp1 NA18957.hp2 NA18962.hp2 NA18967.hp1 NA18972.hp1 NA18979.hp2 NA18995.hp2 NA19070.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0005 others(5): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0002c0001 a0003c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(12): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0004t0004 a0001c0005t0008 a0001c0006t0002 a0001c0010t0019 a0001c0010t0020 a0001c0013t0010 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0011 a0003c0003t0003 a0003c0003t0006	a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0110 others(31): Show a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0110 a0001c0002t0003g0166 a0001c0002t0006g0008 a0001c0002t0006g0105 a0001c0002t0006g0169 a0001c0004t0004g0018 a0001c0004t0004g0046 a0001c0004t0004g0060 a0001c0004t0004g0108 a0001c0004t0004g0179 a0001c0004t0004g0195 a0001c0005t0008g0200 a0001c0006t0002g0178 a0001c0010t0019g0082 a0001c0010t0020g0089 a0001c0013t0010g0185 a0002c0001t0001g0010 a0002c0001t0001g0037 a0002c0001t0001g0135 a0002c0001t0001g0137 a0002c0001t0001g0148 a0002c0001t0001g0172 a0002c0001t0001g0177 a0002c0001t0005g0155 a0002c0001t0005g0175 a0002c0001t0005g0176 a0002c0001t0005g0186 a0002c0001t0009g0194 a0002c0001t0011g0065 a0003c0003t0003g0029 a0003c0003t0003g0144 a0003c0003t0006g0124	34	208	0.1635	15	c.-16 others(36): Show c.-162+30985_-162+30999dupATTATTATTATTATT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03471.hp2 HG01952.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0010 a0003c0004t0063 a0001c0001t0010 a0003c0004t0063	a0001c0001t0010g0388 a0003c0004t0063g0156 a0001c0001t0010g0388 a0003c0004t0063g0156	2	426	0.0047	15	c.187 others(32): Show c.1879-639_1879-625dupTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0011 a0001c0014t0011	a0001c0014t0011g0266 a0001c0014t0011g0266	1	308	0.0033	15	c.186 others(27): Show c.186-17_186-3dupCCCCCCCCCCCCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70557930	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0305 a0001c0001t0038g0305	1	308	0.0033	15	c.226 others(34): Show c.2263-6428_2263-6414dupTTTTTTTTTTTTTTT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168493783	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG01952.hp2 HG00735.hp2 HG01346.hp2 HG01952.hp2	a0002 a0004 a0002 a0004	a0002c0012 a0002c0017 a0004c0011 a0002c0012 a0002c0017 a0004c0011	a0002c0012t0001 a0002c0017t0003 a0004c0011t0001 a0002c0012t0001 a0002c0017t0003 a0004c0011t0001	a0002c0012t0001g0085 a0002c0017t0003g0084 a0004c0011t0001g0083 a0002c0012t0001g0085 a0002c0017t0003g0084 a0004c0011t0001g0083	3	156	0.0192	15	c.-34 others(26): Show c.-3494_-3493insAAAAAAAAAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding		3268		chr4	TogoVar
PALLD_chr4_168492052_168933441	168527422	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0024 a0002c0003 a0004c0024	a0002c0003t0003 a0004c0024t0003 a0002c0003t0003 a0004c0024t0003	a0002c0003t0003g0088 a0004c0024t0003g0014 a0002c0003t0003g0088 a0004c0024t0003g0014	2	156	0.0128	15	c.908 others(34): Show c.908+15018_908+15032dupAAAAAAAAAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168557032	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp2 HG03239.hp2 others(2): Show HG01099.hp2 HG02559.hp2 HG03239.hp2 HG03490.hp2 HG04204.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0007 a0002c0012 others(2): Show a0001c0001 a0002c0007 a0002c0012 a0003c0005 a0004c0011	a0001c0001t0005 a0002c0007t0004 a0002c0012t0019 others(2): Show a0001c0001t0005 a0002c0007t0004 a0002c0012t0019 a0003c0005t0001 a0004c0011t0013	a0001c0001t0005g0119 a0002c0007t0004g0027 a0002c0012t0019g0141 others(2): Show a0001c0001t0005g0119 a0002c0007t0004g0027 a0002c0012t0019g0141 a0003c0005t0001g0076 a0004c0011t0013g0004	5	156	0.0321	15	c.908 others(34): Show c.908+44636_908+44650dupTTTTGTTTTGTTTTG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168593436	C C	CAAAAAAA others(8): Show CAAAAAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01952.hp1 others(17): Show HG00280.hp1 HG00642.hp1 HG01952.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03491.hp2 HG03540.hp2 HG03669.hp2 NA18964.hp1 NA18966.hp2 NA19001.hp2 NA19068.hp2 NA19074.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0007 a0002c0010 a0002c0015 a0003c0008 a0004c0009 a0004c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0007 a0001c0004t0002 a0002c0003t0002 a0002c0003t0006 a0002c0007t0014 a0002c0010t0001 a0002c0015t0016 a0003c0008t0006 a0004c0009t0003 a0004c0025t0005	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0051 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0004g0002 a0001c0001t0005g0140 a0001c0001t0008g0006 a0001c0001t0008g0008 a0001c0001t0009g0105 a0001c0002t0007g0010 a0001c0004t0002g0130 a0002c0003t0002g0151 a0002c0003t0006g0113 a0002c0007t0014g0030 a0002c0010t0001g0082 a0002c0015t0016g0035 a0003c0008t0006g0152 a0004c0009t0003g0040 a0004c0025t0005g0101	20	156	0.1282	15	c.909 others(34): Show c.909-74750_909-74736dupAAAAAAAGAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168593440	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01175.hp2 others(9): Show HG00639.hp1 HG01099.hp2 HG01175.hp2 HG01346.hp2 HG02258.hp2 HG02559.hp2 HG02965.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp2 NA18906.hp1 NA18969.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007 a0002c0010 a0002c0012 a0003c0008 a0004c0011	a0001c0001t0004 a0001c0001t0020 a0001c0002t0007 others(9): Show a0001c0001t0004 a0001c0001t0020 a0001c0002t0007 a0001c0002t0010 a0001c0004t0006 a0002c0007t0001 a0002c0007t0004 a0002c0010t0006 a0002c0012t0001 a0002c0012t0019 a0003c0008t0004 a0004c0011t0013	a0001c0001t0004g0060 a0001c0001t0020g0098 a0001c0002t0007g0050 others(9): Show a0001c0001t0004g0060 a0001c0001t0020g0098 a0001c0002t0007g0050 a0001c0002t0010g0092 a0001c0004t0006g0096 a0002c0007t0001g0025 a0002c0007t0004g0027 a0002c0010t0006g0100 a0002c0012t0001g0085 a0002c0012t0019g0141 a0003c0008t0004g0052 a0004c0011t0013g0004	12	156	0.0769	15	c.909 others(34): Show c.909-74744_909-74743insAAAAAAAAGAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168681540	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03486.hp1 NA19030.hp1 HG02683.hp2 HG03486.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0008 a0001c0002t0007 a0002c0006t0007 a0001c0001t0008 a0001c0002t0007 a0002c0006t0007	a0001c0001t0008g0006 a0001c0002t0007g0050 a0002c0006t0007g0042 a0001c0001t0008g0006 a0001c0002t0007g0050 a0002c0006t0007g0042	3	156	0.0192	15	c.115 others(32): Show c.1154+151_1154+165dupTTTTTTTTTTTTTTT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168709613	A A	AGGGAGGG others(8): Show AGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02040.hp1 HG02258.hp1 others(2): Show HG00639.hp2 HG02040.hp1 HG02258.hp1 NA18966.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0021 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0021g0149 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0021g0149 a0001c0002t0003g0066 a0002c0003t0001g0049	5	156	0.0321	15	c.162 others(32): Show c.1621+466_1621+467insGGGAGGGAGGGAGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp2 HG02257.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0001 a0002c0003t0004	a0002c0003t0001g0037 a0002c0003t0004g0041 a0002c0003t0001g0037 a0002c0003t0004g0041	2	156	0.0128	15	c.196 others(36): Show c.1964+47280_1964+47281insAAAAAAAAAAATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109865096	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG06807.hp1 HG03579.hp2 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0006 a0001c0001t0001 a0005c0008t0006	a0001c0001t0001g0031 a0005c0008t0006g0192 a0001c0001t0001g0031 a0005c0008t0006g0192	2	222	0.0090	15	c.46- others(30): Show c.46-2389_46-2375dupTTTTTTTTTTTTTTT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar

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