Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OSTF1_chr9_75083514_75152265	75128543	TATTTTGT others(31): Show TATTTTGTCCATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	366	0.0027	-38	c.132 others(53): Show c.132+927_132+964delTTTGTCCATATATATATATATATATATATT TTGTCCAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOL1_chr3_161491808_161508942	161505349	TCATATAT others(31): Show TCATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(200): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp2 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0004c0006 a0008c0008	a0001c0001t0000 a0002c0002t0000 a0002c0003t0000 others(3): Show a0001c0001t0000 a0002c0002t0000 a0002c0003t0000 a0002c0009t0000 a0004c0006t0000 a0008c0008t0000	a0001c0001t0000g0002 a0002c0002t0000g0001 a0002c0002t0000g0002 others(25): Show a0001c0001t0000g0002 a0002c0002t0000g0001 a0002c0002t0000g0002 a0002c0002t0000g0003 a0002c0002t0000g0004 a0002c0002t0000g0006 a0002c0002t0000g0007 a0002c0002t0000g0008 a0002c0002t0000g0010 a0002c0002t0000g0013 a0002c0002t0000g0014 a0002c0002t0000g0015 a0002c0002t0000g0018 a0002c0002t0000g0019 a0002c0002t0000g0022 a0002c0002t0000g0031 a0002c0002t0000g0032 a0002c0002t0000g0034 a0002c0002t0000g0035 a0002c0002t0000g0036 a0002c0002t0000g0038 a0002c0002t0000g0039 a0002c0002t0000g0040 a0002c0003t0000g0005 a0002c0009t0000g0002 a0004c0006t0000g0001 a0004c0006t0000g0026 a0008c0008t0000g0006	203	450	0.4511	-38	c.14 others(49): Show c.1408_*1445delCATATATATATATATATATATATATATATATATA TATA	OTOL1	ENSG00000182447.4	transcript	ENST00000327928.4	protein_coding		1408		chr3	TogoVar
OTUD7A_chr15_31470398_31875673	31510974	TATGTATA others(31): Show TATGTATATCTATATGTAACATATGTATATCTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG02071.hp2 others(11): Show HG00621.hp1 HG01243.hp2 HG02071.hp2 HG02602.hp2 HG03942.hp1 NA18939.hp1 NA18950.hp1 NA18960.hp1 NA18981.hp1 NA18993.hp1 NA19000.hp1 NA19005.hp2 NA19085.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0016 a0002c0008 a0001c0002 a0001c0016 a0002c0008	a0001c0002t0001 a0001c0002t0036 a0001c0002t0039 others(3): Show a0001c0002t0001 a0001c0002t0036 a0001c0002t0039 a0001c0002t0053 a0001c0016t0001 a0002c0008t0009	a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0052 others(11): Show a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0156 a0001c0002t0001g0175 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0036g0119 a0001c0002t0039g0198 a0001c0002t0053g0226 a0001c0016t0001g0041 a0002c0008t0009g0084	14	244	0.0574	-38	c.894 others(55): Show c.894-7194_894-7157delTACATATAGATATACATATGTTACATAT AGATATACAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OXR1_chr8_106265190_106757694	106405141	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0003g0055 a0001c0001t0001g0056 a0001c0001t0003g0055	2	172	0.0116	-38	c.23+ others(55): Show c.23+45529_23+45566delTATATATATATATATATATATATATATA TATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106405166	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	172	0.0058	-38	c.23+ others(55): Show c.23+45531_23+45568delTATATATATATATATATATATATATATA TATATATAGT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16			chr8	TogoVar
PACSIN2_chr22_42864773_43020149	42981773	GTGGGTGG others(31): Show GTGGGTGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	294	0.0034	-38	c.-78 others(57): Show c.-78+33210_-78+33247delGACTGGGCGGCTGGCCGGGCGGGGGG CTGACCCACCCA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42990015	TACACACA others(31): Show TACACACATATGTATATATATGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(189): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18982.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0002t0003 a0001c0002t0007 a0001c0002t0022 a0001c0003t0003 a0001c0003t0009 a0001c0003t0010 a0001c0005t0005 a0001c0005t0023 a0002c0004t0003 a0003c0006t0003 a0003c0006t0021 a0005c0008t0001	a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0043 others(189): Show a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0002g0159 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0012g0145 a0001c0001t0014g0094 a0001c0001t0015g0172 a0001c0001t0016g0114 a0001c0001t0017g0086 a0001c0001t0018g0101 a0001c0001t0024g0287 a0001c0002t0003g0003 a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0162 a0001c0002t0003g0168 a0001c0002t0003g0240 a0001c0002t0003g0266 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0007g0267 a0001c0002t0007g0268 a0001c0002t0007g0272 a0001c0002t0022g0018 a0001c0003t0003g0028 a0001c0003t0009g0080 a0001c0003t0009g0085 a0001c0003t0010g0071 a0001c0003t0010g0125 a0001c0005t0005g0282 a0001c0005t0005g0283 a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0023g0281 a0002c0004t0003g0166 a0002c0004t0003g0167 a0002c0004t0003g0169 a0002c0004t0003g0170 a0002c0004t0003g0171 a0003c0006t0003g0004 a0003c0006t0021g0006 a0005c0008t0001g0154	192	294	0.6531	-38	c.-78 others(57): Show c.-78+24968_-78+25005delGTATATATATATATATACATATATAT ACATATGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172368	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19072.hp2 NA18986.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0098 a0001c0001t0001 a0001c0001t0098	a0001c0001t0001g0181 a0001c0001t0098g0159 a0001c0001t0001g0181 a0001c0001t0098g0159	2	432	0.0046	-38	c.46 others(49): Show c.4670_*4707delTATATATATATATATATATATATATATATATATA TATT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1324		chr11	TogoVar
PAK1_chr11_77317017_77479094	77440827	TTCCTCCC others(31): Show TTCCTCCCACCTCTATCTGCCCCTCCCACCTCTACCTGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG03041.hp1 HG02280.hp2 HG02895.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206	3	302	0.0099	-38	c.-22 others(57): Show c.-22+32687_-22+32724delGCAGGTAGAGGTGGGAGGGGCAGATA GAGGTGGGAGGA	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PALB2_chr16_23598165_23646310	23645107	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	326	0.0031	-38	c.-39 others(49): Show c.-3988_-3951delAAAAAAAATATATATATATATATATATATATATA TATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3798		chr16	TogoVar
PALD1_chr10_70473767_70573450	70508805	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGCAGGCCTGTGGGAGCTGCGGAACC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01255.hp2 others(15): Show HG00639.hp2 HG01071.hp1 HG01255.hp2 HG01496.hp2 HG01515.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03453.hp2 HG03516.hp1 HG03669.hp2 HG04115.hp1 NA18906.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0004c0033 a0015c0035	a0001c0001t0007 a0001c0001t0017 a0001c0001t0034 others(8): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0034 a0001c0001t0038 a0001c0004t0028 a0001c0006t0003 a0001c0006t0004 a0001c0006t0016 a0001c0013t0007 a0004c0033t0005 a0015c0035t0009	a0001c0001t0007g0186 a0001c0001t0017g0231 a0001c0001t0034g0219 others(15): Show a0001c0001t0007g0186 a0001c0001t0017g0231 a0001c0001t0034g0219 a0001c0001t0038g0305 a0001c0004t0028g0236 a0001c0006t0003g0067 a0001c0006t0003g0080 a0001c0006t0003g0095 a0001c0006t0003g0117 a0001c0006t0003g0154 a0001c0006t0004g0289 a0001c0006t0016g0234 a0001c0006t0016g0255 a0001c0006t0016g0256 a0001c0013t0007g0120 a0001c0013t0007g0304 a0004c0033t0005g0132 a0015c0035t0009g0185	18	308	0.0584	-38	c.-29 others(57): Show c.-29-17089_-29-17052delCTGCGGAACCTGTGTGTGTGTGTGCA GGCCTGTGGGAG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALMD_chr1_99641113_99699535	99683050	AAGAAAGA others(31): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03098.hp1 NA18940.hp2 others(4): Show HG00673.hp2 HG03098.hp1 NA18940.hp2 NA18998.hp1 NA19005.hp2 NA19086.hp2 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0265 a0004c0006t0001g0307	7	380	0.0184	-38	c.252 others(55): Show c.252-3618_252-3581delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99683078	GAGAGAGA others(31): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	380	0.0026	-38	c.252 others(55): Show c.252-3594_252-3557delGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALM_chr19_703935_753329	741481	AGGGGTGA others(31): Show AGGGGTGAGGGGAGCTGGGCTGCAGGGGTGAGGGGAGAC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19065.hp1 NA19070.hp1 NA18967.hp2 NA19065.hp1 NA19070.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0019 a0002c0005t0003 a0002c0005t0019	a0002c0005t0003g0311 a0002c0005t0003g0316 a0002c0005t0019g0176 a0002c0005t0003g0311 a0002c0005t0003g0316 a0002c0005t0019g0176	3	404	0.0074	-38	c.634 others(55): Show c.634+1012_634+1049delCTGGGCTGCAGGGGTGAGGGGAGACGGG GTGAGGGGAG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAQR5_chr15_69293912_69412780	69300625	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	284	0.0035	-38	c.-27 others(57): Show c.-277+1572_-277+1609delTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300629	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	284	0.0035	-38	c.-27 others(57): Show c.-277+1576_-277+1613delTCTTTCTTTCTTTCTTTCTTTTCTTT CTTTCTTTCATT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300899	TCCTTCCT others(31): Show TCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03669.hp1 NA18998.hp2 HG00544.hp2 HG03669.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0087	3	284	0.0106	-38	c.-27 others(57): Show c.-277+1844_-277+1881delCCTTCCTTCCTTCCTTTCTCTCTCTC TCTCTCTCTCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300900	CCTTCCTT others(31): Show CCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	284	0.0035	-38	c.-27 others(57): Show c.-277+1848_-277+1885delCCTTCCTTCCTTTCTCTCTCTCTCTC TCTCTCTCTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300935	CTCTCTTT others(31): Show CTCTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02922.hp1 others(2): Show HG02572.hp1 HG02647.hp2 HG02922.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0123 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125	5	284	0.0176	-38	c.-27 others(57): Show c.-277+1883_-277+1920delCTTTCTTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34684778	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02970.hp2 HG02559.hp2 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0017 a0001c0002t0007 a0001c0001t0002 a0001c0001t0017 a0001c0002t0007	a0001c0001t0002g0016 a0001c0001t0017g0040 a0001c0002t0007g0017 a0001c0001t0002g0016 a0001c0001t0017g0040 a0001c0002t0007g0017	3	100	0.0300	-38	c.222 others(57): Show c.222+11502_222+11539delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80185968	GCACCCTC others(31): Show GCACCCTCACACACGCATATACCCTCAGACATGCTCGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0209 a0001c0001t0020g0209	1	382	0.0026	-38	c.295 others(57): Show c.295+16704_295+16741delTGCGAGCATGTCTGAGGGTATATGCG TGTGTGAGGGTG	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARP2_chr14_20338635_20362904	20347364	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	420	0.0024	-38	c.324 others(53): Show c.324+453_324+490delATATATATATATATATATATATATATATAT ATATTTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24473517	ATAGAGAA others(31): Show ATAGAGAAGGAAGCAGTTCCAGCAATTCCCCTCTCCCAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18906.hp2 HG03209.hp1 NA18906.hp2	a0002 a0033 a0002 a0033	a0002c0002 a0033c0030 a0002c0002 a0033c0030	a0002c0002t0001 a0033c0030t0001 a0002c0002t0001 a0033c0030t0001	a0002c0002t0001g0101 a0033c0030t0001g0102 a0002c0002t0001g0101 a0033c0030t0001g0102	2	362	0.0055	-38	c.191 others(57): Show c.1914+1917_1914+1954delCTGGGAGAGGGGAATTGCTGGAACTG CTTCCTTCTCTA	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	15/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24479665	CACCAATC others(31): Show CACCAATCAGCGCCCTGTCAAAACAGACCACCCTACTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0038 a0038	a0038c0047 a0038c0047	a0038c0047t0002 a0038c0047t0002	a0038c0047t0002g0355 a0038c0047t0002g0355	1	362	0.0028	-38	c.144 others(57): Show c.1449-1427_1449-1390delAGAGTAGGGTGGTCTGTTTTGACAGG GCGCTGATTGGT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	12/33			chr13	TogoVar
PAWR_chr12_79579879_79695964	79613949	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0194 a0002c0002t0020g0194	1	256	0.0039	-38	c.649 others(53): Show c.649-378_649-341delAAAAAAAATATATATATATATATATATATA TATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613951	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG04204.hp2 NA19006.hp1 HG00673.hp2 HG04204.hp2 NA19006.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0153 a0002c0002t0001g0195 a0002c0002t0001g0236 a0001c0001t0002g0153 a0002c0002t0001g0195 a0002c0002t0001g0236	3	256	0.0117	-38	c.649 others(53): Show c.649-380_649-343delAAAAAAAAAATATATATATATATATATATA TATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613953	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0189 a0002c0002t0012g0189	1	256	0.0039	-38	c.649 others(53): Show c.649-382_649-345delAAAAAAAAAAAATATATATATATATATATA TATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613955	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp2 HG03453.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0187 a0002c0002t0001g0175 a0002c0002t0001g0187	2	256	0.0078	-38	c.649 others(53): Show c.649-384_649-347delAAAAAAAAAAAAAATATATATATATATATA TATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613957	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0233 a0002c0002t0005g0233	1	256	0.0039	-38	c.649 others(53): Show c.649-386_649-349delAAAAAAAAAAAAAAAATATATATATATATA TATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613959	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	256	0.0039	-38	c.649 others(53): Show c.649-388_649-351delAAAAAAAAAAAAAAAAAATATATATATATA TATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632288	AATATATA others(31): Show AATATATACATATATATATACATACATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02896.hp1 HG03195.hp2 others(2): Show HG01074.hp2 HG02896.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0009 a0002c0002t0001 a0003c0004t0009	a0002c0002t0001g0175 a0003c0004t0009g0157 a0003c0004t0009g0158 others(2): Show a0002c0002t0001g0175 a0003c0004t0009g0157 a0003c0004t0009g0158 a0003c0004t0009g0159 a0003c0004t0009g0160	5	256	0.0195	-38	c.517 others(57): Show c.517-11119_517-11082delATATATATATATATGTATGTATATAT ATATGTATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79638878	ATATATAT others(31): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 NA19240.hp2 HG02922.hp2 HG03453.hp1 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0003 a0003c0005t0007g0164 a0003c0005t0007g0165 a0003c0005t0007g0003 a0003c0005t0007g0164 a0003c0005t0007g0165	3	256	0.0117	-38	c.517 others(57): Show c.517-17709_517-17672delAAAAAAAAAAAAAAAAAAAATATATA TATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAXBP1_chr21_32728899_32776755	32771859	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG00642.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	360	0.0056	-38	c.-22 others(47): Show c.-229_-192delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		105		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771911	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02683.hp1 HG01346.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0134 a0001c0001t0001g0138	2	360	0.0056	-38	c.-28 others(47): Show c.-281_-244delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		157		chr21	TogoVar
PBLD_chr10_68277660_68337928	68319514	CTCTACTA others(31): Show CTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18612.hp2 NA18965.hp1 HG00558.hp2 NA18612.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0119	3	364	0.0082	-38	c.-59 others(57): Show c.-59-12649_-59-12612delTGCCACCACACCTGGCTAATTTTTGT ATTTTTAGTAGA	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54655278	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01884.hp1 others(2): Show HG00738.hp1 HG00741.hp1 HG01884.hp1 HG03942.hp1 NA18945.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0038 a0001c0001 a0019c0038	a0001c0001t0001 a0001c0001t0003 a0019c0038t0001 a0001c0001t0001 a0001c0001t0003 a0019c0038t0001	a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0003g0010 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0003g0010 a0001c0001t0003g0015 a0019c0038t0001g0040	5	102	0.0490	-38	c.91+ others(53): Show c.91+8856_91+8893delGTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTCTCTCT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	2/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54655278	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01884.hp1 others(2): Show HG00738.hp2 HG00741.hp1 HG01884.hp1 HG03942.hp1 NA18945.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0036 a0004c0004t0001g0037	5	94	0.0532	-38	c.91+ others(53): Show c.91+8856_91+8893delGTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTCTCTCT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	2/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	31079309	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00621.hp2 others(27): Show HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01123.hp1 HG01496.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02145.hp2 HG02155.hp1 HG02683.hp1 HG02717.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18945.hp1 NA18953.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18983.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19066.hp2 NA19070.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0029 a0001c0002t0035 a0001c0002t0040 a0001c0003t0012 a0001c0005t0034	a0001c0001t0001g0115 a0001c0001t0001g0172 a0001c0001t0002g0071 others(27): Show a0001c0001t0001g0115 a0001c0001t0001g0172 a0001c0001t0002g0071 a0001c0001t0002g0187 a0001c0001t0002g0199 a0001c0001t0003g0058 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0084 a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0004g0198 a0001c0001t0005g0022 a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0008g0025 a0001c0001t0008g0044 a0001c0001t0015g0001 a0001c0002t0001g0127 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0002g0163 a0001c0002t0029g0152 a0001c0002t0035g0164 a0001c0002t0040g0145 a0001c0003t0012g0006 a0001c0005t0034g0105	30	214	0.1402	-38	c.339 others(59): Show c.3392-63146_3392-63109delTATATATATATATATATATATATA TATATATATATATA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	66756504	TCTTTTGT others(31): Show TCTTTTGTAGGATAATCTTTGCAGTGAGGTCAACAAAGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02132.hp1 HG03195.hp1 others(3): Show HG00642.hp2 HG02132.hp1 HG03195.hp1 HG03239.hp1 NA18950.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0003g0070 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0003g0070 a0001c0001t0016g0080 a0001c0002t0002g0021 a0001c0002t0002g0023	6	80	0.0750	-38	c.313 others(61): Show c.3139-125131_3139-125094delGCTTTGTTGACCTCACTGCAAA GATTATCCTACAAAAG	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCNX1_chr14_70902459_71120382	71006103	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01891.hp1 others(11): Show HG01109.hp2 HG01192.hp1 HG01891.hp1 HG02145.hp1 HG02280.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0028 a0001c0003t0013 a0001c0010t0071 others(1): Show a0001c0001t0028 a0001c0003t0013 a0001c0010t0071 a0001c0010t0072	a0001c0001t0028g0128 a0001c0003t0013g0134 a0001c0003t0013g0135 others(11): Show a0001c0001t0028g0128 a0001c0003t0013g0134 a0001c0003t0013g0135 a0001c0003t0013g0136 a0001c0003t0013g0137 a0001c0003t0013g0138 a0001c0003t0013g0139 a0001c0003t0013g0140 a0001c0003t0013g0141 a0001c0003t0013g0142 a0001c0003t0013g0143 a0001c0003t0013g0144 a0001c0010t0071g0351 a0001c0010t0072g0350	14	352	0.0398	-38	c.263 others(57): Show c.2630-3501_2630-3464delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCP4L1_chr1_161253745_161290450	161277102	TAGAGTTA others(31): Show TAGAGTTAATAAATGATTTCAGCAAAGTTGTTGGATACA	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	402	0.0025	-38	c.10- others(53): Show c.10-6562_10-6525delGTTAATAAATGATTTCAGCAAAGTTGTTGG ATACAAGA	PCP4L1	ENSG00000248485.2	transcript	ENST00000504449.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCSK5_chr9_75885673_76367975	76040347	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG03540.hp2 HG02976.hp2 HG03041.hp1 HG03540.hp2	a0027 a0037 a0042 a0027 a0037 a0042	a0027c0079 a0037c0086 a0042c0062 a0027c0079 a0037c0086 a0042c0062	a0027c0079t0041 a0037c0086t0001 a0042c0062t0004 a0027c0079t0041 a0037c0086t0001 a0042c0062t0004	a0027c0079t0041g0073 a0037c0086t0001g0159 a0042c0062t0004g0062 a0027c0079t0041g0073 a0037c0086t0001g0159 a0042c0062t0004g0062	3	166	0.0181	-38	c.632 others(57): Show c.632+13339_632+13376delTCTCTCTCTGTCTCTCTCTCTCTCTC TCTCTCTCTCTC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDE11A_chr2_177618244_178077777	177631496	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG03453.hp2 others(1): Show HG02818.hp1 HG02970.hp1 HG03453.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0003c0008 a0001c0003 a0001c0005 a0003c0008	a0001c0003t0051 a0001c0003t0052 a0001c0005t0053 others(1): Show a0001c0003t0051 a0001c0003t0052 a0001c0005t0053 a0003c0008t0050	a0001c0003t0051g0092 a0001c0003t0052g0029 a0001c0005t0053g0015 others(1): Show a0001c0003t0051g0092 a0001c0003t0052g0029 a0001c0005t0053g0015 a0003c0008t0050g0163	4	170	0.0235	-38	c.264 others(57): Show c.2647-1972_2647-1935delATATATATATATATATATATATTTTT TTTTTTTTTTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19			chr2	TogoVar
PDE4D_chr5_58964038_59898726	59574081	TATTTATA others(31): Show TATTTATATATATAAATATATATTTATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02818.hp1 HG02451.hp1 HG02723.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0021 a0001c0001t0023 a0001c0001t0009 a0001c0001t0021 a0001c0001t0023	a0001c0001t0009g0070 a0001c0001t0021g0069 a0001c0001t0023g0065 a0001c0001t0009g0070 a0001c0001t0021g0069 a0001c0001t0023g0065	3	74	0.0405	-38	c.455 others(59): Show c.455+319049_455+319086delTTATATATATATATAAATATATAT TTATATATATAAAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE6B_chr4_620573_675782	635340	TACCTGCC others(31): Show TACCTGCCTGCCTGCCTGCCCGCGTGTTCTGTGCCACGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp1 HG02723.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0004 a0001c0005t0001 a0001c0002t0004 a0001c0005t0001	a0001c0002t0004g0059 a0001c0005t0001g0262 a0001c0002t0004g0059 a0001c0005t0001g0262	2	308	0.0065	-38	c.621 others(53): Show c.621+512_622-502delACCTGCCTGCCTGCCTGCCCGCGTGTTCTG TGCCACGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21			chr4	TogoVar
PDE6B_chr4_620573_675782	669666	GCCATGCT others(31): Show GCCATGCTATTCCCGCTACCCCATGCTATTCCCGCTACC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	308	0.0033	-38	c.250 others(55): Show c.2504-328_2504-291delGCTACCCCATGCTATTCCCGCTACCCCA TGCTATTCCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE7A_chr8_65709334_65847064	65745938	CTTTGAGA others(31): Show CTTTGAGACAGGGTCTCACACTCACTGTCACCAAGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02647.hp2 others(3): Show HG02145.hp1 HG02622.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 others(3): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0001t0042 a0001c0001t0085 a0001c0001t0088	a0001c0001t0012g0058 a0001c0001t0013g0057 a0001c0001t0025g0021 others(3): Show a0001c0001t0012g0058 a0001c0001t0013g0057 a0001c0001t0025g0021 a0001c0001t0042g0030 a0001c0001t0085g0236 a0001c0001t0088g0242	6	248	0.0242	-38	c.436 others(53): Show c.436-506_436-469delCAGCCTTGGTGACAGTGAGTGTGAGACCCT GTCTCAAA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	4/12			chr8	TogoVar
PDE9A_chr21_42648621_42780509	42670320	TCACATTC others(31): Show TCACATTCACACACATTCACATACATTTACACACACATC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	324	0.0031	-38	c.70- others(55): Show c.70-15867_70-15830delTTCACACACATTCACATACATTTACACA CACATCCACA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFC_chr4_156755454_156976799	156824307	TATATATA others(31): Show TATATATATATATATATATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG03098.hp2 others(3): Show HG02572.hp1 HG02818.hp2 HG03098.hp2 HG03195.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0035 a0001c0001t0009g0099 a0001c0001t0009g0172 others(3): Show a0001c0001t0009g0035 a0001c0001t0009g0099 a0001c0001t0009g0172 a0001c0001t0009g0173 a0001c0001t0016g0182 a0001c0001t0016g0184	6	208	0.0289	-38	c.315 others(57): Show c.315-13328_315-13291delGTGTGTGTGTGTGTGTGTATATATAT ATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824311	TATATATA others(31): Show TATATATATATATATATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02965.hp2 others(2): Show HG02486.hp2 HG02615.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0127 a0001c0001t0004g0128 others(2): Show a0001c0001t0004g0093 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0137	5	208	0.0240	-38	c.315 others(57): Show c.315-13332_315-13295delGTGTGTGTGTGTGTGTGTGTGTATAT ATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar

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