Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PACSIN1_chr6_34461076_34540223	34462414	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01255.hp1 others(13): Show HG00544.hp1 HG00735.hp2 HG01255.hp1 HG02258.hp2 HG02486.hp2 HG02723.hp2 HG02886.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0001c0001t0030	a0001c0001t0001g0005 a0001c0001t0001g0064 a0001c0001t0001g0133 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0064 a0001c0001t0001g0133 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0287 a0001c0001t0002g0071 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0186 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0009g0220 a0001c0001t0019g0184 a0001c0001t0030g0076	16	310	0.0516	-12	c.-39 others(23): Show c.-3919_-3908delGTGTGTGTGTGT	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding		3661		chr6	TogoVar
PACSIN1_chr6_34461076_34540223	34503269	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp2 HG03710.hp2 HG02818.hp1 HG02970.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0241 a0001c0001t0002g0171 a0001c0001t0005g0242 a0001c0001t0001g0241 a0001c0001t0002g0171 a0001c0001t0005g0242	3	310	0.0097	-12	c.-63 others(31): Show c.-63-22968_-63-22957delAAAAAAGAAAAA	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42865810	TACCCTAA others(5): Show TACCCTAACCCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02572.hp2 others(4): Show HG01884.hp1 HG02055.hp2 HG02572.hp2 HG02970.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0024 a0001c0005t0005 a0001c0005t0023 a0001c0001t0024 a0001c0005t0005 a0001c0005t0023	a0001c0001t0024g0287 a0001c0005t0005g0282 a0001c0005t0005g0283 others(4): Show a0001c0001t0024g0287 a0001c0005t0005g0282 a0001c0005t0005g0283 a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0023g0281	7	294	0.0238	-12	c.55 others(23): Show c.5535_*5546delTAGGGTTAGGGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding		3962		chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42886415	TGTAGGTA others(5): Show TGTAGGTAGGTAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	294	0.0034	-12	c.610 others(29): Show c.610-1866_610-1855delCTACCTACCTAC	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	5/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42919786	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02486.hp2 others(5): Show HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(5): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079	8	294	0.0272	-12	c.-77 others(29): Show c.-77-7641_-77-7630delCTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42931250	AAACCAGC others(5): Show AAACCAGCTGGGT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	294	0.0034	-12	c.-77 others(31): Show c.-77-19105_-77-19094delACCCAGCTGGTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42980534	CGAGCCAA others(5): Show CGAGCCAAAGCTG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03579.hp2 HG02559.hp2 HG02630.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0013g0130 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0013g0130	3	294	0.0102	-12	c.-78 others(31): Show c.-78+34475_-78+34486delCAGCTTTGGCTC	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43012154	AATACATA others(5): Show AATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG00741.hp1 others(19): Show HG00280.hp1 HG00738.hp1 HG00741.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA18945.hp2 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0005c0008	a0001c0001t0001 a0001c0003t0004 a0001c0003t0020 others(2): Show a0001c0001t0001 a0001c0003t0004 a0001c0003t0020 a0002c0004t0003 a0005c0008t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(19): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0020g0251 a0002c0004t0003g0188 a0002c0004t0003g0248 a0002c0004t0003g0249 a0002c0004t0003g0250 a0002c0004t0003g0255 a0005c0008t0001g0154	22	294	0.0748	-12	c.-78 others(29): Show c.-78+2855_-78+2866delGTATGTATGTAT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN3_chr11_47172522_47191434	47190100	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18972.hp1 NA19077.hp1 others(1): Show NA18961.hp2 NA18972.hp1 NA19077.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	364	0.0110	-12	c.-38 others(23): Show c.-3867_-3856delTTTTTTTTTTTT	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding		3667		chr11	TogoVar
PADI1_chr1_17200128_17251007	17227530	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp1 others(39): Show HG00408.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01109.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG02027.hp2 HG02132.hp2 HG02258.hp1 HG02698.hp2 HG02717.hp1 HG02922.hp1 HG03471.hp1 HG03540.hp1 HG03831.hp2 HG04115.hp2 NA18906.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18969.hp2 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0016 a0003c0012 a0003c0030 a0006c0024	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0003t0004 a0001c0003t0014 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0016t0001 a0003c0012t0001 a0003c0030t0001 a0006c0024t0016	a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0308 others(39): Show a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0308 a0001c0001t0001g0350 a0001c0001t0001g0359 a0001c0001t0001g0365 a0001c0001t0012g0049 a0001c0001t0012g0316 a0001c0002t0001g0151 a0001c0002t0001g0224 a0001c0002t0001g0238 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0320 a0001c0002t0001g0342 a0001c0002t0002g0375 a0001c0002t0007g0225 a0001c0003t0001g0130 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0152 a0001c0003t0001g0160 a0001c0003t0001g0164 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0271 a0001c0003t0001g0289 a0001c0003t0001g0294 a0001c0003t0001g0297 a0001c0003t0004g0279 a0001c0003t0014g0328 a0001c0005t0001g0197 a0001c0006t0001g0123 a0001c0006t0001g0182 a0001c0006t0002g0298 a0001c0016t0001g0016 a0003c0012t0001g0069 a0003c0030t0001g0112 a0006c0024t0016g0153	42	406	0.1035	-12	c.653 others(29): Show c.653-1054_653-1043delAAATAAATAAAT	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI3_chr1_17244098_17289233	17252341	CAGCACAA others(5): Show CAGCACAAACCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01255.hp2 others(11): Show HG01106.hp1 HG01109.hp2 HG01255.hp2 HG02083.hp2 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02738.hp1 HG03098.hp1 NA18939.hp1 NA19054.hp2 NA19240.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0007c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0002t0001 a0001c0011t0005 a0007c0013t0001	a0001c0001t0002g0005 a0001c0001t0002g0113 a0001c0001t0004g0109 others(8): Show a0001c0001t0002g0005 a0001c0001t0002g0113 a0001c0001t0004g0109 a0001c0001t0014g0114 a0001c0001t0017g0111 a0001c0001t0019g0108 a0001c0001t0026g0005 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0011t0005g0024 a0007c0013t0001g0115	14	368	0.0380	-12	c.92+ others(27): Show c.92+3121_92+3132delCCTTAGCACAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17313498	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01928.hp1 HG01346.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0296 a0002c0002t0001g0145 a0002c0002t0001g0296	2	372	0.0054	-12	c.92+ others(27): Show c.92+5196_92+5207delAAAAAAAAAAAA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17316703	AAATAAAT others(5): Show AAATAAATTAATT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	372	0.0027	-12	c.92+ others(27): Show c.92+8393_92+8404delAAATTAATTAAT	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17323247	CAGGCAGA others(5): Show CAGGCAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18987.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0014 a0016 a0018 a0019	a0001c0001 a0001c0005 a0001c0009 others(13): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011 a0001c0016 a0001c0025 a0002c0002 a0003c0003 a0004c0006 a0006c0007 a0010c0028 a0011c0018 a0014c0017 a0016c0027 a0018c0024 a0019c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0001c0005t0002 a0001c0009t0003 a0001c0011t0001 a0001c0016t0001 a0001c0025t0001 a0002c0002t0001 a0003c0003t0001 a0004c0006t0001 a0006c0007t0001 a0010c0028t0002 a0011c0018t0001 a0014c0017t0001 a0016c0027t0001 a0018c0024t0002 a0019c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(193): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0337 a0001c0001t0005g0053 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0256 a0001c0005t0001g0344 a0001c0005t0001g0345 a0001c0005t0001g0347 a0001c0005t0001g0348 a0001c0005t0001g0349 a0001c0005t0001g0350 a0001c0005t0001g0352 a0001c0005t0001g0359 a0001c0005t0002g0346 a0001c0009t0003g0074 a0001c0009t0003g0075 a0001c0009t0003g0078 a0001c0009t0003g0176 a0001c0011t0001g0007 a0001c0011t0001g0251 a0001c0011t0001g0341 a0001c0016t0001g0041 a0001c0016t0001g0069 a0001c0025t0001g0090 a0002c0002t0001g0080 a0002c0002t0001g0081 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0302 a0004c0006t0001g0253 a0004c0006t0001g0260 a0004c0006t0001g0301 a0004c0006t0001g0304 a0004c0006t0001g0358 a0006c0007t0001g0364 a0006c0007t0001g0365 a0006c0007t0001g0366 a0006c0007t0001g0367 a0010c0028t0002g0191 a0011c0018t0001g0168 a0011c0018t0001g0169 a0014c0017t0001g0037 a0014c0017t0001g0038 a0016c0027t0001g0023 a0018c0024t0002g0199 a0019c0032t0001g0149	199	372	0.5350	-12	c.93- others(27): Show c.93-7707_93-7696delGCAGAGAGAGAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17324915	AGCCTATT others(5): Show AGCCTATTTCTGT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19057.hp1 NA18982.hp2 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0208 a0002c0002t0001g0160 a0002c0002t0001g0208	2	372	0.0054	-12	c.93- others(27): Show c.93-6053_93-6042delGCCTATTTCTGT	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	1/15			chr1	TogoVar
PADI6_chr1_17367196_17406699	17381657	GAGACTGG others(5): Show GAGACTGGAAACA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	412	0.0024	-12	c.554 others(27): Show c.554-295_554-284delACTGGAAACAAG	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135571918	AATCGGAA others(5): Show AATCGGAAAAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	464	0.0022	-12	c.53 others(23): Show c.5367_*5378delATCGGAAAAATC	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding		4964		chr9	TogoVar
PAF1_chr19_39380629_39396106	39393072	CTTTCTTT others(5): Show CTTTCTTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01257.hp2 others(34): Show HG00140.hp1 HG01071.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18975.hp2 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19011.hp2 NA19081.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0001t0001 a0001c0001t0004 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0004g0011 a0001c0006t0001g0037	37	368	0.1005	-12	c.-22 others(23): Show c.-2220_-2209delAAAGAAAAGAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1967		chr19	TogoVar
PAF1_chr19_39380629_39396106	39394556	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-12	c.-37 others(23): Show c.-3704_-3693delAAAAAAAAAAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		3451		chr19	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621605	GTCTTTTT others(5): Show GTCTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG01109.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0014 a0001c0001t0015g0017 a0001c0001t0012g0014 a0001c0001t0015g0017	2	280	0.0071	-12	c.-19 others(33): Show c.-190-16492_-190-16481delCTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621607	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02165.hp2 NA18965.hp2 HG02074.hp1 HG02165.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0004 a0001c0001t0005g0089 a0001c0001t0005g0090	3	280	0.0107	-12	c.-19 others(33): Show c.-190-16467_-190-16456delTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2633148	TTTTTTCT others(5): Show TTTTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0272 a0001c0001t0037g0272	1	280	0.0036	-12	c.-19 others(31): Show c.-190-4941_-190-4930delTTCTTTTTCTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2655183	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 NA18951.hp1 others(2): Show HG03453.hp1 HG03471.hp1 NA18951.hp1 NA18954.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0108 a0001c0001t0002g0171 a0001c0001t0002g0194 others(2): Show a0001c0001t0002g0108 a0001c0001t0002g0171 a0001c0001t0002g0194 a0001c0001t0013g0218 a0001c0001t0013g0253	5	280	0.0179	-12	c.33- others(29): Show c.33-10167_33-10156delGTGTGTGTGTGT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2662378	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG01168.hp2 others(21): Show HG00438.hp2 HG00733.hp1 HG01168.hp2 HG01258.hp2 HG01261.hp2 HG01993.hp2 HG02004.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG02922.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG04184.hp2 NA19030.hp1 NA19060.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0034 a0001c0001t0038 a0001c0004t0036	a0001c0001t0001g0006 a0001c0001t0002g0234 a0001c0001t0003g0217 others(21): Show a0001c0001t0001g0006 a0001c0001t0002g0234 a0001c0001t0003g0217 a0001c0001t0004g0192 a0001c0001t0004g0229 a0001c0001t0004g0232 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0011g0233 a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0270 a0001c0001t0034g0251 a0001c0001t0038g0238 a0001c0004t0036g0205	24	280	0.0857	-12	c.33- others(27): Show c.33-2959_33-2948delTGTGTGTGTGTG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2679514	ATGGATGG others(5): Show ATGGATGGATGAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG06807.hp1 HG02896.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0019 a0001c0001t0028g0018 a0001c0001t0001g0019 a0001c0001t0028g0018	2	280	0.0071	-12	c.100 others(29): Show c.1003-639_1003-628delATTGGATGGATG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2679622	TTGGATGA others(5): Show TTGGATGATTGGA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18979.hp2 NA19030.hp1 others(3): Show NA18946.hp1 NA18979.hp2 NA19030.hp1 NA19062.hp2 NA19063.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0017 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0020 a0001c0004t0036	a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 others(3): Show a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0017g0010 a0001c0001t0020g0226 a0001c0004t0036g0205	6	280	0.0214	-12	c.100 others(29): Show c.1003-535_1003-524delATTGGATGGATG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2685622	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	280	0.0036	-12	c.38 others(23): Show c.3821_*3832delTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding		8		chr17	TogoVar
PAFAH2_chr1_25954767_26003063	25977014	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp1 HG03516.hp2 HG02257.hp2 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0039	3	310	0.0097	-12	c.667 others(27): Show c.667-253_667-242delAAAAAAAAAAAA	PAFAH2	ENSG00000158006.14	transcript	ENST00000374282.8	protein_coding	7/10			chr1	TogoVar
PAGE1_chrX_49682447_49700984	49689565	AAAAAAAA others(5): Show AAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	322	0.0031	-12	c.293 others(25): Show c.293-34_293-23delATTTTTTTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689824	ATGTGTAT others(5): Show ATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0154 a0001c0001t0001g0155	2	322	0.0062	-12	c.293 others(27): Show c.293-293_293-282delCATATATACACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689944	TGTATATA others(5): Show TGTATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	322	0.0031	-12	c.293 others(27): Show c.293-413_293-402delGTGTGTATATAC	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690123	GTATATAT others(5): Show GTATATATACACA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	322	0.0031	-12	c.293 others(27): Show c.293-592_293-581delTGTGTATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE2_chrX_55084018_55097842	55090328	GTCTATCT others(5): Show GTCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	316	0.0032	-12	c.85- others(25): Show c.85-147_85-136delTATCTATCTATC	PAGE2	ENSG00000234068.7	transcript	ENST00000374968.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAH_chr12_102831889_102922244	102868051	TATATATA others(5): Show TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02723.hp1 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0004 a0001c0006t0002 a0001c0006t0004	a0001c0006t0002g0211 a0001c0006t0004g0297 a0001c0006t0002g0211 a0001c0006t0004g0297	2	312	0.0064	-12	c.442 others(29): Show c.442-1400_442-1389delGTGTATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102868126	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02486.hp1 others(4): Show HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02886.hp2 HG03139.hp1 HG03579.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0009 a0003c0013 a0001c0006 a0001c0009 a0003c0013	a0001c0006t0001 a0001c0009t0005 a0001c0009t0013 others(1): Show a0001c0006t0001 a0001c0009t0005 a0001c0009t0013 a0003c0013t0005	a0001c0006t0001g0213 a0001c0009t0005g0235 a0001c0009t0005g0236 others(4): Show a0001c0006t0001g0213 a0001c0009t0005g0235 a0001c0009t0005g0236 a0001c0009t0005g0238 a0001c0009t0013g0239 a0001c0009t0013g0240 a0003c0013t0005g0237	7	312	0.0224	-12	c.442 others(29): Show c.442-1475_442-1464delTATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102882665	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp1 others(4): Show HG00741.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG02145.hp2 HG02717.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0004t0026 a0001c0010t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0004g0232 others(3): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0004g0232 a0001c0001t0009g0306 a0001c0004t0026g0304 a0001c0010t0001g0001	7	312	0.0224	-12	c.353 others(29): Show c.353-5127_353-5116delTTATATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	3/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102889402	CATAGATA others(5): Show CATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01256.hp2 others(11): Show HG00741.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01884.hp2 HG02258.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0002t0011 a0001c0008t0023 a0001c0008t0024	a0001c0001t0001g0018 a0001c0001t0002g0004 a0001c0001t0002g0013 others(10): Show a0001c0001t0001g0018 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0002t0011g0030 a0001c0008t0023g0242 a0001c0008t0024g0241	14	312	0.0449	-12	c.352 others(29): Show c.352+5321_352+5332delCTATCTATCTAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	3/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102889534	GGATAGAT others(5): Show GGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00597.hp2 others(40): Show HG00099.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01943.hp2 HG02040.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG03491.hp1 HG03492.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18954.hp1 NA18960.hp2 NA18968.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0004c0016	a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 others(3): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0002c0005t0003 a0004c0016t0003	a0001c0001t0003g0271 a0001c0003t0001g0121 a0001c0003t0003g0006 others(39): Show a0001c0001t0003g0271 a0001c0003t0001g0121 a0001c0003t0003g0006 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0259 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0267 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0280 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0014g0278 a0001c0003t0014g0279 a0002c0005t0003g0246 a0002c0005t0003g0247 a0002c0005t0003g0248 a0002c0005t0003g0249 a0002c0005t0003g0250 a0002c0005t0003g0251 a0002c0005t0003g0252 a0002c0005t0003g0253 a0002c0005t0003g0254 a0004c0016t0003g0281	43	312	0.1378	-12	c.352 others(29): Show c.352+5189_352+5200delTATCTATCTATC	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	3/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102918560	GTTTTTTT others(5): Show GTTTTTTTTTGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	312	0.0032	-12	c.-14 others(23): Show c.-1442_-1431delAACAAAAAAAAA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1317		chr12	TogoVar
PAICS_chr4_56431260_56469578	56437256	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03491.hp2 HG02615.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0067 a0001c0001t0001 a0001c0001t0067	a0001c0001t0001g0285 a0001c0001t0067g0165 a0001c0001t0001g0285 a0001c0001t0067g0165	2	380	0.0053	-12	c.16+ others(25): Show c.16+959_16+970delGTGTGTGTGTGT	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAICS_chr4_56431260_56469578	56438371	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(53): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01243.hp2 HG01516.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp1 NA18939.hp1 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18983.hp2 NA18989.hp1 NA18992.hp2 NA18998.hp1 NA19001.hp1 NA19009.hp2 NA19058.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(13): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0033 a0001c0001t0049 a0001c0001t0050 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0003c0003t0025	a0001c0001t0004g0011 a0001c0001t0004g0017 a0001c0001t0004g0019 others(46): Show a0001c0001t0004g0011 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0063 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0092 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0118 a0001c0001t0006g0009 a0001c0001t0006g0021 a0001c0001t0006g0027 a0001c0001t0006g0046 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0101 a0001c0001t0006g0104 a0001c0001t0006g0127 a0001c0001t0010g0010 a0001c0001t0010g0019 a0001c0001t0010g0117 a0001c0001t0010g0164 a0001c0001t0015g0011 a0001c0001t0015g0072 a0001c0001t0024g0009 a0001c0001t0024g0069 a0001c0001t0026g0079 a0001c0001t0026g0103 a0001c0001t0032g0026 a0001c0001t0032g0122 a0001c0001t0033g0010 a0001c0001t0033g0093 a0001c0001t0049g0120 a0001c0001t0050g0098 a0001c0001t0060g0045 a0001c0001t0062g0094 a0001c0001t0063g0166 a0001c0001t0064g0011 a0001c0001t0065g0097 a0003c0003t0025g0082 a0003c0003t0025g0083	56	380	0.1474	-12	c.16+ others(27): Show c.16+2064_16+2075delTATATATATATA	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAIP1_chr5_43521267_43562077	43539452	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02572.hp2 others(5): Show HG01167.hp2 HG01884.hp2 HG02572.hp2 HG02976.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0012 a0001c0001t0004g0329 a0001c0001t0004g0330 others(4): Show a0001c0001t0004g0012 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0003t0004g0326	8	350	0.0229	-12	c.735 others(27): Show c.735-429_735-418delGTGTGTGTGTGT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	4/10			chr5	TogoVar
PAIP1_chr5_43521267_43562077	43547042	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	350	0.0029	-12	c.621 others(27): Show c.621+674_621+685delTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	3/10			chr5	TogoVar
PAIP1_chr5_43521267_43562077	43560060	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG04199.hp1 HG03927.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0181 a0001c0001t0001g0184	2	350	0.0057	-12	c.-32 others(23): Show c.-3226_-3215delTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding		2984		chr5	TogoVar
PAIP2B_chr2_71177738_71232103	71191093	ATAGGCCT others(5): Show ATAGGCCTCTTGC	A A	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0221 a0001c0002t0020g0221	1	378	0.0027	-12	c.139 others(29): Show c.139-1084_139-1073delGCAAGAGGCCTA	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	2/3			chr2	TogoVar
PAIP2B_chr2_71177738_71232103	71194459	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01496.hp2 others(11): Show HG00438.hp2 HG01109.hp2 HG01496.hp2 HG01517.hp1 HG02257.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03486.hp2 NA18992.hp2 NA19010.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0027 a0001c0003t0036 others(2): Show a0001c0003t0007 a0001c0003t0027 a0001c0003t0036 a0001c0003t0037 a0001c0003t0038	a0001c0003t0007g0042 a0001c0003t0007g0043 a0001c0003t0007g0103 others(9): Show a0001c0003t0007g0042 a0001c0003t0007g0043 a0001c0003t0007g0103 a0001c0003t0007g0105 a0001c0003t0007g0110 a0001c0003t0007g0184 a0001c0003t0007g0188 a0001c0003t0007g0253 a0001c0003t0027g0190 a0001c0003t0036g0102 a0001c0003t0037g0189 a0001c0003t0038g0104	14	378	0.0370	-12	c.139 others(29): Show c.139-4450_139-4439delCACACACACACA	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	2/3			chr2	TogoVar
PAIP2B_chr2_71177738_71232103	71200997	TTGTGTGT others(5): Show TTGTGTGTGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0160 a0001c0001t0005g0160	1	378	0.0027	-12	c.138 others(29): Show c.138+1443_138+1454delCCCACACACACA	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	2/3			chr2	TogoVar
PAIP2B_chr2_71177738_71232103	71201008	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02257.hp2 others(7): Show HG01243.hp1 HG01891.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02809.hp2 HG02922.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0011 a0001c0001t0013	a0001c0001t0011g0006 a0001c0001t0011g0093 a0001c0001t0013g0013 a0001c0001t0011g0006 a0001c0001t0011g0093 a0001c0001t0013g0013	10	378	0.0265	-12	c.138 others(29): Show c.138+1432_138+1443delACACACACACAC	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	2/3			chr2	TogoVar
PAIP2_chr5_139336854_139374717	139338723	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 NA18522.hp1 NA18974.hp2 others(2): Show HG02976.hp1 NA18522.hp1 NA18974.hp2 NA18998.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0172 a0001c0001t0001g0173	5	344	0.0145	-12	c.-32 others(23): Show c.-3283_-3272delAAAAAAAAAAAA	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding		3130		chr5	TogoVar
PAIP2_chr5_139336854_139374717	139365141	TTAAATAA others(5): Show TTAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02129.hp1 others(9): Show HG01167.hp2 HG01169.hp2 HG02129.hp1 HG03453.hp1 NA18906.hp1 NA18956.hp2 NA18981.hp1 NA18986.hp1 NA18989.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0051 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255	12	344	0.0349	-12	c.318 others(27): Show c.318+429_318+440delAATAAATAAATA	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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