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 limited to 10,000 hits. Refine your search for more specific results.

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
PCSK6_chr15_101298933_101494707	101316910	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp1 others(32): Show HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00733.hp1 HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG02004.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02683.hp1 HG02717.hp1 HG02976.hp1 HG03017.hp1 HG03486.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA19000.hp1 NA19004.hp2 NA19011.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0019 a0001c0061 a0002c0032 a0003c0015 a0003c0023 a0004c0049 a0007c0068	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0004t0006 a0001c0004t0011 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0009t0001 a0001c0010t0001 a0001c0010t0003 a0001c0012t0001 a0001c0019t0001 a0001c0061t0001 a0002c0032t0003 a0003c0015t0001 a0003c0015t0003 a0003c0023t0001 a0004c0049t0014 a0007c0068t0001	a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0001g0234 others(32): Show a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0002g0226 a0001c0002t0001g0151 a0001c0002t0001g0172 a0001c0002t0001g0188 a0001c0002t0001g0275 a0001c0002t0002g0225 a0001c0002t0006g0283 a0001c0003t0001g0133 a0001c0003t0005g0143 a0001c0003t0005g0144 a0001c0004t0001g0058 a0001c0004t0006g0076 a0001c0004t0011g0125 a0001c0006t0001g0111 a0001c0006t0001g0115 a0001c0007t0001g0137 a0001c0007t0006g0068 a0001c0009t0001g0208 a0001c0010t0001g0223 a0001c0010t0001g0249 a0001c0010t0001g0287 a0001c0010t0001g0297 a0001c0010t0003g0291 a0001c0012t0001g0102 a0001c0019t0001g0306 a0001c0061t0001g0309 a0002c0032t0003g0009 a0003c0015t0001g0314 a0003c0015t0003g0318 a0003c0023t0001g0311 a0004c0049t0014g0145 a0007c0068t0001g0326	35	336	0.1042	9	c.256 others(28): Show c.2569+1400_2569+1408dupAAAAAAAAA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	19/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101342129	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00733.hp1 others(20): Show HG00323.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01981.hp1 HG02004.hp1 HG02257.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 NA18973.hp2 NA18983.hp2 NA19011.hp2 NA19065.hp1 NA19090.hp1 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0001c0061 a0002c0008 a0002c0016 a0012c0055	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0004t0003 a0001c0009t0001 a0001c0012t0001 a0001c0061t0001 a0002c0008t0001 a0002c0016t0001 a0012c0055t0001	a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0228 others(20): Show a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0277 a0001c0001t0002g0201 a0001c0002t0001g0172 a0001c0002t0001g0275 a0001c0002t0003g0266 a0001c0002t0005g0187 a0001c0003t0001g0066 a0001c0003t0001g0089 a0001c0003t0001g0136 a0001c0004t0003g0038 a0001c0009t0001g0208 a0001c0009t0001g0237 a0001c0012t0001g0102 a0001c0061t0001g0309 a0002c0008t0001g0022 a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 a0012c0055t0001g0153	23	336	0.0685	9	c.185 others(30): Show c.1859-10107_1859-10099dupTTTTTTTTT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215362	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01074.hp1 others(27): Show HG00323.hp2 HG00609.hp1 HG01074.hp1 HG01243.hp2 HG01261.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG03225.hp2 NA18947.hp1 NA18948.hp2 NA18957.hp2 NA18965.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19080.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 others(1): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001	a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0014 others(24): Show a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0036 a0001c0003t0002g0038 a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0087 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0136 a0001c0003t0002g0138 a0001c0003t0002g0164 a0001c0003t0002g0225 a0001c0003t0002g0261 a0001c0003t0002g0274 a0001c0003t0002g0295 a0001c0003t0002g0329 a0001c0003t0002g0331 a0001c0003t0004g0165 a0001c0003t0004g0166 a0001c0003t0004g0330 a0001c0003t0007g0134 a0001c0004t0001g0375	30	460	0.0652	9	c.153 others(28): Show c.1534+3103_1534+3104insAAAAAAAAA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215406	A A	ATATACTT others(2): Show ATATACTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01074.hp1 others(16): Show HG00323.hp2 HG00609.hp1 HG01074.hp1 HG01243.hp2 HG01261.hp2 HG02165.hp2 HG02257.hp2 HG02602.hp1 NA18957.hp2 NA18965.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 others(1): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0007t0006	a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0014 others(13): Show a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0036 a0001c0003t0002g0038 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0138 a0001c0003t0002g0164 a0001c0003t0002g0225 a0001c0003t0002g0261 a0001c0003t0002g0274 a0001c0003t0002g0295 a0001c0003t0004g0166 a0001c0003t0007g0134 a0001c0007t0006g0254	19	460	0.0413	9	c.153 others(28): Show c.1534+3059_1534+3060insAAAAGTATA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYOX1_chr2_70253137_70286185	70283096	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01361.hp2 HG01975.hp2 others(8): Show HG01358.hp1 HG01361.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02300.hp1 NA18612.hp1 NA18988.hp1 NA18999.hp1 NA19012.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0003 a0001c0001t0004g0093 a0001c0001t0004g0137 others(3): Show a0001c0001t0004g0003 a0001c0001t0004g0093 a0001c0001t0004g0137 a0001c0001t0004g0191 a0001c0001t0014g0003 a0001c0001t0014g0016	11	424	0.0259	9	c.57 others(20): Show c.5704_*5705insAAAAAAAAA	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		1912		chr2	TogoVar
PCYOX1_chr2_70253137_70286185	70283122	A A	AAAAAAAA others(2): Show AAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02809.hp1 others(7): Show HG01256.hp2 HG01258.hp2 HG02809.hp1 HG04184.hp1 NA18961.hp2 NA18975.hp2 NA18993.hp1 NA19001.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0024 a0002c0004t0001 a0001c0001t0001 a0001c0001t0024 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0024g0120 a0002c0004t0001g0001 a0002c0004t0001g0010	10	424	0.0236	9	c.57 others(20): Show c.5730_*5731insAAAAAAAAC	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		1938		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24571500	T T	TATCATCA others(2): Show TATCATCATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02056.hp1 others(27): Show HG01109.hp1 HG01884.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA18954.hp2 NA18977.hp1 NA19004.hp1 NA19074.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0023 a0001c0001t0032 a0001c0001t0035 a0001c0001t0080 a0001c0001t0081 a0001c0001t0084 a0001c0001t0090 a0001c0001t0101 a0001c0001t0104 a0001c0001t0105 a0001c0002t0059 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0071 a0001c0002t0072 a0001c0002t0092 a0001c0002t0093	a0001c0001t0001g0072 a0001c0001t0001g0111 a0001c0001t0005g0197 others(27): Show a0001c0001t0001g0072 a0001c0001t0001g0111 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0202 a0001c0001t0005g0223 a0001c0001t0005g0249 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0173 a0001c0001t0023g0196 a0001c0001t0023g0244 a0001c0001t0023g0246 a0001c0001t0032g0079 a0001c0001t0035g0228 a0001c0001t0080g0165 a0001c0001t0081g0162 a0001c0001t0084g0175 a0001c0001t0090g0174 a0001c0001t0101g0239 a0001c0001t0104g0254 a0001c0001t0105g0255 a0001c0002t0059g0125 a0001c0002t0063g0147 a0001c0002t0064g0146 a0001c0002t0065g0170 a0001c0002t0071g0184 a0001c0002t0072g0161 a0001c0002t0092g0171 a0001c0002t0093g0172	30	260	0.1154	9	c.897 others(26): Show c.897+3621_897+3629dupGATGATGAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	7/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24629559	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18747.hp1 NA18955.hp1 others(1): Show HG04115.hp1 NA18747.hp1 NA18955.hp1 NA19006.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0017 a0001c0001t0055 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0055 a0002c0004t0002	a0001c0001t0001g0011 a0001c0001t0017g0027 a0001c0001t0055g0019 others(1): Show a0001c0001t0001g0011 a0001c0001t0017g0027 a0001c0001t0055g0019 a0002c0004t0002g0075	4	260	0.0154	9	c.118 others(28): Show c.118-10484_118-10476dupTTTTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66865220	C C	CCCCCAGC others(2): Show CCCCCAGCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02647.hp1 others(1): Show HG02145.hp1 HG02615.hp1 HG02647.hp1 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0007c0009t0001g0185	4	274	0.0146	9	c.118 others(26): Show c.1185+958_1185+966dupAGGCTGGGG	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	11/22			chr11	TogoVar
PC_chr11_66843420_66963383	66889902	A A	ATTTATGA others(2): Show ATTTATGATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00621.hp2 others(56): Show HG00099.hp2 HG00323.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01361.hp2 HG02055.hp1 HG02132.hp1 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02818.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03654.hp1 HG06807.hp2 NA18747.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18978.hp2 NA18982.hp2 NA18984.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19058.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 a0002c0002t0001 a0007c0009t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(56): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0003g0132 a0001c0001t0003g0152 a0001c0011t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0007c0009t0001g0185	59	274	0.2153	9	c.1-1 others(24): Show c.1-17744_1-17743insAATCATAAA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PC_chr11_66843420_66963383	66955772	T T	TTTTTTTT others(2): Show TTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01884.hp1 others(17): Show HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0012 a0001c0001 a0001c0004 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0005c0012t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(17): Show a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0004t0001g0255 a0005c0012t0001g0251	20	274	0.0730	9	c.-22 others(28): Show c.-227-1345_-227-1337dupGAAAAAAAA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	1/22			chr11	TogoVar
PDCD1_chr2_241844884_241863894	241850723	G G	GGCAGCAG others(2): Show GGCAGCAGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02615.hp2 others(2): Show HG02055.hp2 HG02109.hp1 HG02615.hp2 HG02818.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0063 a0001c0001t0007g0067 others(1): Show a0001c0001t0007g0037 a0001c0001t0007g0063 a0001c0001t0007g0067 a0001c0001t0007g0098	5	407	0.0123	9	c.32 others(18): Show c.326_*334dupTGCTGCTGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding	5/5	334		chr2	TogoVar
PDCD5_chr19_32576190_32592453	32592293	A A	AGGCTTCT others(2): Show AGGCTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp2 others(14): Show HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG03834.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18990.hp1 NA18992.hp2 NA19004.hp1 NA19012.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0041 a0001c0003t0001g0006 a0001c0003t0001g0041	17	422	0.0403	9	c.49 others(20): Show c.4993_*4994insGGCTTCTGC	PDCD5	ENSG00000105185.12	transcript	ENST00000590247.7	protein_coding		4841		chr19	TogoVar
PDCD7_chr15_65112379_65138808	65135935	T T	TTTGTTGT others(2): Show TTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03139.hp1 HG03471.hp1 others(1): Show HG02559.hp1 HG03139.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0005t0001g0123 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0005t0001g0123 a0001c0005t0001g0124	4	218	0.0184	9	c.-21 others(20): Show c.-2155_-2154insCAACAACAA	PDCD7	ENSG00000090470.15	transcript	ENST00000204549.9	protein_coding		2128		chr15	TogoVar
PDE11A_chr2_177618244_178077777	177979611	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01071.hp1 HG01081.hp1 others(36): Show HG00609.hp1 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01361.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18945.hp1 NA18950.hp1 NA19065.hp1 NA20300.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0008 a0010	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0014 a0002c0002 a0002c0029 a0002c0034 a0005c0012 a0005c0021 a0006c0013 a0008c0025 a0010c0022	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(25): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0031 a0001c0003t0007 a0001c0003t0011 a0001c0003t0016 a0001c0003t0023 a0001c0005t0026 a0001c0009t0062 a0001c0014t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 a0002c0002t0035 a0002c0002t0043 a0002c0029t0001 a0002c0034t0006 a0005c0012t0009 a0005c0021t0009 a0006c0013t0001 a0006c0013t0038 a0008c0025t0048 a0010c0022t0019	a0001c0001t0002g0089 a0001c0001t0005g0085 a0001c0001t0008g0084 others(36): Show a0001c0001t0002g0089 a0001c0001t0005g0085 a0001c0001t0008g0084 a0001c0001t0010g0154 a0001c0001t0016g0090 a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 a0001c0001t0031g0078 a0001c0003t0007g0126 a0001c0003t0011g0098 a0001c0003t0016g0093 a0001c0003t0023g0091 a0001c0005t0026g0019 a0001c0009t0062g0008 a0001c0014t0007g0155 a0001c0014t0007g0156 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0094 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0135 a0002c0002t0004g0070 a0002c0002t0004g0077 a0002c0002t0012g0102 a0002c0002t0012g0144 a0002c0002t0035g0021 a0002c0002t0043g0074 a0002c0029t0001g0157 a0002c0034t0006g0169 a0005c0012t0009g0088 a0005c0021t0009g0105 a0006c0013t0001g0068 a0006c0013t0038g0104 a0008c0025t0048g0097 a0010c0022t0019g0069	39	170	0.2294	9	c.107 others(30): Show c.1071+34682_1071+34690dupAAAAAAAAA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE12_chr3_57551274_57571848	57558488	C C	CTATTATT others(2): Show CTATTATTAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03041.hp1 others(2): Show HG02280.hp1 HG02572.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0046 a0001c0001t0047 a0001c0001t0017 a0001c0001t0046 a0001c0001t0047	a0001c0001t0017g0006 a0001c0001t0046g0006 a0001c0001t0047g0006 a0001c0001t0017g0006 a0001c0001t0046g0006 a0001c0001t0047g0006	5	388	0.0129	9	c.130 others(26): Show c.1309-808_1309-800dupATTATTATT	PDE12	ENSG00000174840.9	transcript	ENST00000311180.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDE1A_chr2_182135041_182432036	182384458	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01928.hp2 HG02148.hp1 others(14): Show HG00609.hp1 HG01928.hp2 HG02148.hp1 HG02293.hp2 HG02451.hp1 HG02615.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 NA18940.hp1 NA18961.hp2 NA18979.hp2 NA18999.hp2 NA19007.hp1 NA19057.hp2 NA19066.hp2 NA19075.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0003c0005t0004	a0001c0001t0001g0172 a0001c0001t0002g0076 a0001c0001t0002g0077 others(14): Show a0001c0001t0001g0172 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0192 a0001c0001t0004g0145 a0001c0001t0004g0228 a0001c0001t0008g0036 a0001c0001t0008g0245 a0001c0001t0009g0035 a0001c0001t0010g0160 a0001c0001t0011g0037 a0001c0001t0011g0247 a0003c0005t0004g0032	17	264	0.0644	9	c.53+ others(26): Show c.53+42111_53+42119dupATTATTATT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31851101	T T	TACACACA others(2): Show TACACACATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02300.hp2 HG02486.hp1 others(1): Show HG01167.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0001c0001t0001 a0001c0001t0003 a0001c0006t0001	a0001c0001t0001g0128 a0001c0001t0001g0257 a0001c0001t0003g0067 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0257 a0001c0001t0003g0067 a0001c0006t0001g0184	4	262	0.0153	9	c.751 others(24): Show c.751-361_751-360insTATGTGTGT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	7/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31998010	T T	TTTATTTT others(2): Show TTTATTTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp2 others(47): Show HG00408.hp1 HG00423.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18939.hp2 NA18959.hp1 NA18961.hp1 NA18973.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19074.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0017 a0002c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0017t0002 a0002c0024t0001	a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0097 others(47): Show a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0097 a0001c0001t0001g0161 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0004g0120 a0001c0001t0005g0225 a0001c0001t0006g0074 a0001c0001t0006g0201 a0001c0001t0009g0204 a0001c0002t0001g0150 a0001c0002t0001g0258 a0001c0002t0002g0148 a0001c0003t0001g0135 a0001c0003t0002g0149 a0001c0003t0002g0151 a0001c0003t0006g0041 a0001c0004t0001g0166 a0001c0005t0001g0101 a0001c0005t0001g0195 a0001c0005t0001g0217 a0001c0006t0001g0228 a0001c0017t0002g0130 a0002c0024t0001g0091	50	262	0.1908	9	c.128 others(28): Show c.128+53543_128+53544insTAAAAATAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	32005578	A A	AAAAAAAA others(2): Show AAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp2 HG02486.hp2 others(3): Show HG01255.hp2 HG02145.hp2 HG02486.hp2 HG02615.hp1 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0070 a0001c0001t0001g0125 a0001c0001t0003g0116 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0125 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0005g0072 a0001c0001t0006g0065	6	262	0.0229	9	c.128 others(28): Show c.128+45975_128+45976insGTTTTTTTT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE2A_chr11_72571141_72679422	72573442	C C	CGTCCCCG others(2): Show CGTCCCCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02965.hp1 others(3): Show HG02622.hp1 HG02630.hp1 HG02965.hp1 HG02965.hp2 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0015 a0001c0001 a0001c0013 a0001c0015	a0001c0001t0001 a0001c0001t0009 a0001c0013t0003 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0013t0003 a0001c0015t0005	a0001c0001t0001g0051 a0001c0001t0001g0079 a0001c0001t0001g0080 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0009g0264 a0001c0013t0003g0036 a0001c0015t0005g0104	6	292	0.0206	9	c.39 others(20): Show c.3941_*3942insAGCGGGGAC	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding		2698		chr11	TogoVar
PDE2A_chr11_72571141_72679422	72664364	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02602.hp2 others(8): Show HG01891.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG03041.hp1 HG03139.hp1 HG03654.hp2 HG04204.hp2 NA18944.hp1 NA18970.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0004 a0001c0020t0001	a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0002t0001g0198 others(8): Show a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0002t0001g0198 a0001c0003t0001g0043 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0202 a0001c0005t0004g0110 a0001c0020t0001g0201	11	292	0.0377	9	c.71+ others(24): Show c.71+9764_71+9772dupAAAAAAAAA	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	1/30			chr11	TogoVar
PDE3A_chr12_20363537_20693583	20481764	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01169.hp2 others(17): Show HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03471.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG04228.hp2 NA18522.hp2 NA19006.hp1 NA19043.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0009 a0001c0001t0012 a0001c0001t0040 others(16): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0040 a0001c0001t0082 a0001c0001t0086 a0001c0001t0094 a0001c0001t0144 a0001c0003t0005 a0002c0002t0023 a0002c0002t0024 a0002c0002t0111 a0002c0002t0120 a0002c0002t0140 a0002c0002t0142 a0002c0004t0076 a0002c0004t0128 a0002c0004t0135 a0002c0004t0136 a0002c0005t0013	a0001c0001t0009g0136 a0001c0001t0012g0106 a0001c0001t0040g0129 others(17): Show a0001c0001t0009g0136 a0001c0001t0012g0106 a0001c0001t0040g0129 a0001c0001t0082g0064 a0001c0001t0086g0063 a0001c0001t0094g0122 a0001c0001t0144g0145 a0001c0003t0005g0131 a0002c0002t0023g0146 a0002c0002t0024g0067 a0002c0002t0111g0065 a0002c0002t0120g0133 a0002c0002t0140g0035 a0002c0002t0142g0082 a0002c0004t0076g0029 a0002c0004t0128g0163 a0002c0004t0135g0186 a0002c0004t0136g0197 a0002c0005t0013g0104 a0002c0005t0013g0148	20	198	0.1010	9	c.961 others(28): Show c.961-74882_961-74874dupTTTTTTTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20558691	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00741.hp2 others(13): Show HG00140.hp2 HG00558.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG02148.hp1 HG02486.hp1 HG02572.hp2 HG02698.hp2 HG02970.hp2 HG04204.hp2 HG04228.hp1 NA19004.hp1 NA19043.hp2 NA19065.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0027 a0001c0001t0029 others(10): Show a0001c0001t0002 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0086 a0001c0001t0094 a0001c0001t0107 a0001c0001t0147 a0001c0001t0149 a0002c0002t0003 a0002c0002t0010 a0002c0002t0022	a0001c0001t0002g0033 a0001c0001t0002g0055 a0001c0001t0002g0111 others(13): Show a0001c0001t0002g0033 a0001c0001t0002g0055 a0001c0001t0002g0111 a0001c0001t0027g0124 a0001c0001t0029g0039 a0001c0001t0030g0190 a0001c0001t0039g0089 a0001c0001t0086g0063 a0001c0001t0094g0122 a0001c0001t0107g0069 a0001c0001t0147g0083 a0001c0001t0149g0027 a0002c0002t0003g0117 a0002c0002t0010g0116 a0002c0002t0022g0019 a0002c0002t0022g0020	16	198	0.0808	9	c.101 others(28): Show c.1011+2002_1011+2010dupTAATAATAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20598174	A A	AATTATTA others(2): Show AATTATTATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 NA18906.hp2 HG02258.hp1 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0092 a0001c0001t0148 a0001c0001t0001 a0001c0001t0092 a0001c0001t0148	a0001c0001t0001g0079 a0001c0001t0092g0123 a0001c0001t0148g0021 a0001c0001t0001g0079 a0001c0001t0092g0123 a0001c0001t0148g0021	3	198	0.0152	9	c.101 others(30): Show c.1012-15253_1012-15245dupATTATTATT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4B_chr1_65787895_66379574	65895932	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02559.hp2 HG02647.hp1 others(1): Show HG01255.hp1 HG02559.hp2 HG02647.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0071 a0001c0001t0005g0064 a0001c0001t0006g0033 others(1): Show a0001c0001t0001g0071 a0001c0001t0005g0064 a0001c0001t0006g0033 a0001c0001t0009g0038	4	118	0.0339	9	c.-70 others(28): Show c.-70-17284_-70-17276dupATAATAATA	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	65924077	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02165.hp2 HG02559.hp1 others(7): Show HG02145.hp2 HG02165.hp2 HG02559.hp1 HG02647.hp2 HG03239.hp1 NA18940.hp2 NA18944.hp2 NA18986.hp1 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0080 others(7): Show a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0080 a0001c0001t0003g0001 a0001c0001t0004g0035 a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0063 a0001c0002t0001g0097 a0001c0002t0001g0117	10	118	0.0848	9	c.281 others(26): Show c.281+5249_281+5257dupTTTTTTTTT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090616	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01981.hp1 HG02145.hp2 others(4): Show HG01167.hp1 HG01981.hp1 HG02145.hp2 HG02647.hp2 HG03209.hp2 HG03453.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0066 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0118 a0001c0001t0002g0009 a0001c0002t0001g0117 a0002c0003t0002g0065	7	118	0.0593	9	c.282 others(30): Show c.282-156844_282-156843insTATATATAT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16			chr1	TogoVar
PDE4D_chr5_58964038_59898726	58980685	T T	TGGGGGGA others(2): Show TGGGGGGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp1 HG02451.hp2 others(3): Show HG00140.hp2 HG01952.hp1 HG02451.hp2 HG02895.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013	a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0072 others(3): Show a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0008g0047 a0001c0001t0008g0057 a0001c0001t0013g0009	6	74	0.0811	9	c.155 others(28): Show c.1553-3349_1553-3341dupCTTCCCCCC	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	11/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59079666	T T	TTAATAAT others(2): Show TTAATAATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp2 NA18966.hp1 others(1): Show HG01884.hp1 HG02896.hp2 NA18966.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022	a0001c0001t0001g0003 a0001c0001t0010g0035 a0001c0001t0011g0017 others(1): Show a0001c0001t0001g0003 a0001c0001t0010g0035 a0001c0001t0011g0017 a0001c0001t0022g0025	4	74	0.0541	9	c.809 others(28): Show c.809-40704_809-40696dupTTATTATTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59081518	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp2 HG01884.hp2 others(15): Show HG00140.hp2 HG01261.hp2 HG01884.hp2 HG01952.hp1 HG02451.hp1 HG02451.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 NA18945.hp1 NA18966.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0004t0007	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0037 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0002g0060 a0001c0001t0003g0042 a0001c0001t0006g0067 a0001c0001t0006g0071 a0001c0001t0008g0047 a0001c0001t0008g0057 a0001c0001t0009g0070 a0001c0001t0010g0035 a0001c0001t0012g0054 a0001c0001t0012g0061 a0001c0001t0015g0066 a0001c0001t0021g0069 a0001c0001t0023g0065 a0001c0004t0007g0011	18	74	0.2432	9	c.809 others(28): Show c.809-42556_809-42548dupTTTTTTTTT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59081518	T T	TTAAAAAA others(2): Show TTAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02698.hp1 HG01257.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0048 a0001c0001t0001g0055	2	74	0.0270	9	c.809 others(28): Show c.809-42548_809-42547insTTTTTTTTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59133983	T T	TTTGTTGT others(2): Show TTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02965.hp2 others(1): Show HG02723.hp1 HG02895.hp2 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021	a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0004g0031 others(1): Show a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0004g0031 a0001c0001t0021g0069	4	74	0.0541	9	c.808 others(28): Show c.808+46603_808+46611dupCAACAACAA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59156320	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02717.hp1 HG02818.hp2 others(1): Show HG01257.hp2 HG02717.hp1 HG02818.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022	a0001c0001t0002g0020 a0001c0001t0004g0028 a0001c0001t0006g0071 others(1): Show a0001c0001t0002g0020 a0001c0001t0004g0028 a0001c0001t0006g0071 a0001c0001t0022g0025	4	74	0.0541	9	c.808 others(28): Show c.808+24274_808+24275insATATATATA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59821237	G G	GCAACAAC others(2): Show GCAACAACAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp1 HG01891.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0067 a0001c0001t0010g0068 a0001c0001t0006g0067 a0001c0001t0010g0068	2	74	0.0270	9	c.455 others(28): Show c.455+71922_455+71930dupTTGTTGTTG	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59872300	C C	CACACACA others(2): Show CACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01515.hp1 HG01517.hp2 others(1): Show HG01257.hp2 HG01515.hp1 HG01517.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0002g0020 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0002g0020 a0001c0001t0006g0071	4	74	0.0541	9	c.455 others(28): Show c.455+20867_455+20868insTGTGTGTGT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE5A_chr4_119489403_119633804	119592456	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG01978.hp2 others(7): Show HG00741.hp1 HG01361.hp1 HG01978.hp2 HG02074.hp1 HG02148.hp1 HG02300.hp1 HG02486.hp1 HG03486.hp2 NA19001.hp2 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011	a0001c0002t0002g0064 a0001c0002t0002g0073 a0001c0002t0002g0118 others(7): Show a0001c0002t0002g0064 a0001c0002t0002g0073 a0001c0002t0002g0118 a0001c0002t0002g0121 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0004g0317 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0011g0117	10	336	0.0298	9	c.831 others(26): Show c.831+4058_831+4066dupTTTTTTTTT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding	3/20			chr4	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02572.hp1 others(4): Show HG02109.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02896.hp1 HG03225.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0013	a0001c0005 a0003c0007 a0006c0019 others(1): Show a0001c0005 a0003c0007 a0006c0019 a0013c0028	a0001c0005t0047 a0003c0007t0001 a0003c0007t0016 others(2): Show a0001c0005t0047 a0003c0007t0001 a0003c0007t0016 a0006c0019t0006 a0013c0028t0065	a0001c0005t0047g0320 a0003c0007t0001g0314 a0003c0007t0001g0317 others(4): Show a0001c0005t0047g0320 a0003c0007t0001g0314 a0003c0007t0001g0317 a0003c0007t0001g0318 a0003c0007t0016g0315 a0006c0019t0006g0004 a0013c0028t0065g0224	7	328	0.0213	9	c.106 others(26): Show c.1065+784_1065+792dupTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149947611	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01928.hp1 HG02027.hp1 others(9): Show HG00544.hp1 HG01928.hp1 HG02027.hp1 HG02071.hp1 HG02572.hp1 HG02572.hp2 HG02970.hp1 HG03225.hp1 NA18906.hp1 NA19000.hp1 NA19000.hp2 NA20805.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0001c0033 others(4): Show a0001c0001 a0001c0002 a0001c0033 a0002c0003 a0002c0011 a0002c0012 a0013c0028	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0033t0002 a0002c0003t0001 a0002c0011t0045 a0002c0012t0006 a0013c0028t0065	a0001c0001t0002g0025 a0001c0001t0002g0070 a0001c0001t0005g0034 others(9): Show a0001c0001t0002g0025 a0001c0001t0002g0070 a0001c0001t0005g0034 a0001c0002t0001g0287 a0001c0002t0002g0292 a0001c0002t0005g0246 a0001c0002t0016g0270 a0001c0033t0002g0251 a0002c0003t0001g0212 a0002c0011t0045g0206 a0002c0012t0006g0217 a0013c0028t0065g0224	12	328	0.0366	9	c.-29 others(20): Show c.-2939_-2938insAAAAAAAAA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding		2819		chr5	TogoVar
PDE6C_chr10_93607537_93671010	93611339	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp2 others(41): Show HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG01361.hp1 HG01891.hp1 HG01952.hp1 HG02015.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18939.hp1 NA18939.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19062.hp1 NA19066.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003 a0004c0013 a0005c0012 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0004c0013t0001 a0005c0012t0001 a0005c0012t0002 a0006c0014t0001	a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0045 others(41): Show a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0250 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0002g0075 a0001c0007t0001g0252 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0212 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0003t0001g0006 a0002c0003t0001g0175 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0253 a0002c0003t0001g0256 a0002c0003t0002g0349 a0002c0003t0002g0350 a0002c0003t0003g0351 a0004c0013t0001g0352 a0004c0013t0001g0353 a0005c0012t0001g0374 a0005c0012t0002g0375 a0006c0014t0001g0254	44	384	0.1146	9	c.-13 others(20): Show c.-1387_-1386insAAAAAAAAA	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding		1197		chr10	TogoVar
PDE6C_chr10_93607537_93671010	93636395	T T	TGTGTGTG others(2): Show TGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02717.hp1 others(3): Show HG02486.hp1 HG02630.hp1 HG02717.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0120 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0322 a0001c0001t0001g0323 a0002c0004t0001g0146	6	384	0.0156	9	c.141 others(26): Show c.1414-599_1414-591dupGTGTGTGTG	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE7A_chr8_65709334_65847064	65841963	G G	GGCCGCCG others(2): Show GGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02486.hp1 others(3): Show HG02145.hp1 HG02257.hp1 HG02486.hp1 HG03098.hp1 HG03195.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0084 a0001c0001t0085 others(2): Show a0001c0001t0035 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087	a0001c0001t0035g0240 a0001c0001t0035g0241 a0001c0001t0084g0239 others(3): Show a0001c0001t0035g0240 a0001c0001t0035g0241 a0001c0001t0084g0239 a0001c0001t0085g0236 a0001c0001t0086g0237 a0001c0001t0087g0238	6	248	0.0242	9	c.-46 others(18): Show c.-464_-456dupGGCGGCGGC	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/13	456		chr8	TogoVar
PDE7B_chr6_135846701_136200574	136123094	C C	CTAAGGCC others(2): Show CTAAGGCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp1 others(138): Show HG00099.hp1 HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005 a0002c0007 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0002t0004 a0001c0002t0010 a0001c0002t0016 a0001c0002t0018 a0001c0002t0021 a0001c0003t0006 a0001c0003t0027 a0001c0006t0028 a0002c0005t0014 a0002c0005t0020 a0002c0007t0014 a0003c0004t0013 a0003c0004t0038	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 others(138): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0136 a0001c0001t0003g0142 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0005g0070 a0001c0001t0005g0087 a0001c0001t0006g0116 a0001c0001t0007g0035 a0001c0001t0007g0037 a0001c0001t0007g0139 a0001c0001t0008g0043 a0001c0001t0008g0050 a0001c0001t0008g0075 a0001c0001t0009g0056 a0001c0001t0009g0128 a0001c0001t0011g0111 a0001c0001t0011g0138 a0001c0001t0012g0110 a0001c0001t0012g0137 a0001c0001t0015g0018 a0001c0001t0015g0093 a0001c0001t0017g0120 a0001c0001t0019g0141 a0001c0001t0022g0098 a0001c0001t0023g0126 a0001c0001t0024g0080 a0001c0001t0025g0010 a0001c0001t0026g0119 a0001c0001t0029g0009 a0001c0001t0030g0053 a0001c0001t0031g0034 a0001c0001t0032g0029 a0001c0001t0033g0055 a0001c0001t0034g0004 a0001c0001t0035g0054 a0001c0001t0036g0052 a0001c0001t0037g0040 a0001c0001t0039g0038 a0001c0001t0040g0015 a0001c0002t0004g0008 a0001c0002t0010g0017 a0001c0002t0010g0069 a0001c0002t0016g0003 a0001c0002t0018g0002 a0001c0002t0021g0068 a0001c0003t0006g0001 a0001c0003t0006g0021 a0001c0003t0027g0074 a0001c0006t0028g0032 a0002c0005t0014g0028 a0002c0005t0020g0140 a0002c0007t0014g0067 a0003c0004t0013g0024 a0003c0004t0013g0108 a0003c0004t0038g0039	141	142	0.9930	9	c.166 others(28): Show c.166+14283_166+14284insGGCCTGTAA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85097126	T T	TGTCCTGT others(2): Show TGTCCTGTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01891.hp2 others(24): Show HG01109.hp2 HG01496.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG04204.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 others(24): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0006c0008t0001g0176 a0006c0008t0001g0181	27	344	0.0785	9	c.853 others(24): Show c.853-821_853-813dupGTCCTGTTG	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02109.hp2 HG02148.hp1 others(3): Show HG02027.hp2 HG02109.hp2 HG02148.hp1 NA18948.hp1 NA18987.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0169 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0169 a0001c0001t0001g0237 a0001c0001t0001g0269 a0001c0001t0001g0281	6	344	0.0174	9	c.173 others(28): Show c.1735-1324_1735-1316dupAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77372201	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG03041.hp1 others(2): Show HG02615.hp2 HG02723.hp2 HG03041.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0007 a0001c0001t0008 a0001c0003t0007 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0003t0007 a0001c0012t0002	a0001c0001t0007g0025 a0001c0001t0008g0029 a0001c0001t0008g0030 others(2): Show a0001c0001t0007g0025 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0003t0007g0135 a0001c0012t0002g0308	5	314	0.0159	9	c.116 others(30): Show c.1167+18816_1167+18824dupCAACAACAA	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653537	G G	GAAGGGGG others(2): Show GAAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(101): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01346.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19088.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0002c0008 a0003c0007 a0004c0012	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0004 a0002c0008t0001 a0003c0007t0001 a0004c0012t0004	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0046 others(101): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0312 a0001c0001t0009g0212 a0001c0002t0001g0048 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0001g0124 a0001c0002t0001g0131 a0001c0002t0001g0148 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0205 a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0227 a0001c0002t0001g0247 a0001c0002t0001g0256 a0001c0002t0001g0270 a0001c0002t0001g0284 a0001c0002t0001g0289 a0001c0002t0005g0261 a0001c0003t0001g0056 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0072 a0001c0003t0001g0079 a0001c0003t0001g0083 a0001c0003t0001g0089 a0001c0003t0001g0091 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0134 a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0162 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0226 a0001c0003t0001g0228 a0001c0003t0001g0266 a0001c0004t0001g0082 a0001c0004t0001g0159 a0001c0005t0001g0268 a0001c0006t0001g0153 a0001c0006t0001g0154 a0001c0009t0004g0243 a0002c0008t0001g0272 a0003c0007t0001g0288 a0004c0012t0004g0259	104	324	0.3210	9	c.-27 others(18): Show c.-278_-277insAAGGGGGGA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		83		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42653539	A A	AGGGGGGA others(2): Show AGGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02280.hp2 HG02486.hp1 others(5): Show HG01257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0003c0007t0001	a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0280 others(5): Show a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0280 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0170 a0001c0005t0001g0169 a0003c0007t0001g0172	8	324	0.0247	9	c.-27 others(18): Show c.-276_-275insGGGGGGAGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		81		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726620	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG01978.hp1 others(8): Show HG01346.hp1 HG01884.hp2 HG01978.hp1 HG02280.hp2 HG02572.hp2 HG02723.hp2 HG02922.hp2 HG03017.hp2 HG03654.hp1 HG03831.hp1 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0007 others(1): Show a0001c0001 a0001c0003 a0003c0007 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0003c0007t0001 a0004c0012t0004	a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0173 others(8): Show a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0002g0064 a0001c0001t0003g0020 a0001c0003t0001g0062 a0001c0003t0001g0063 a0003c0007t0001g0172 a0004c0012t0004g0259	11	324	0.0340	9	c.263 others(26): Show c.263-5149_263-5148insTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726622	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(20): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01981.hp1 HG02027.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp1 HG03239.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18979.hp2 NA18995.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0075 a0001c0001t0001g0077 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0145 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0002g0081 a0001c0001t0002g0102 a0001c0001t0002g0120 a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0002t0001g0067 a0001c0002t0001g0175 a0001c0002t0002g0031 a0001c0002t0002g0050 a0001c0002t0003g0016 a0001c0003t0001g0083 a0001c0003t0001g0226 a0001c0003t0002g0070 a0001c0003t0003g0018 a0001c0004t0001g0082	23	324	0.0710	9	c.263 others(26): Show c.263-5147_263-5146insTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar

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