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
PEX5L_chr3_179789958_180041937	179843656	CATCCAGA others(5): Show CATCCAGAGATAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0218 a0001c0001t0097g0218	1	220	0.0046	-12	c.822 others(31): Show c.822+15394_822+15405delTTATCTCTGGAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	8/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	179874725	GGTTTTTT others(5): Show GGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01081.hp1 others(25): Show HG00140.hp1 HG00741.hp1 HG01081.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02451.hp2 HG02559.hp1 HG02698.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG03017.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG04204.hp1 HG04204.hp2 NA18947.hp2 NA19002.hp1 NA19057.hp1 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0039 a0001c0001t0064 a0001c0001t0074 a0001c0001t0078 a0001c0001t0086 a0001c0001t0088 a0001c0001t0091 a0001c0001t0097 a0001c0001t0098	a0001c0001t0001g0020 a0001c0001t0001g0161 a0001c0001t0005g0022 others(25): Show a0001c0001t0001g0020 a0001c0001t0001g0161 a0001c0001t0005g0022 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0193 a0001c0001t0006g0017 a0001c0001t0010g0141 a0001c0001t0012g0168 a0001c0001t0013g0012 a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0016g0197 a0001c0001t0019g0014 a0001c0001t0020g0127 a0001c0001t0021g0182 a0001c0001t0023g0102 a0001c0001t0030g0174 a0001c0001t0039g0202 a0001c0001t0064g0109 a0001c0001t0074g0063 a0001c0001t0078g0068 a0001c0001t0086g0103 a0001c0001t0088g0011 a0001c0001t0091g0181 a0001c0001t0097g0218 a0001c0001t0098g0219	28	220	0.1273	-12	c.630 others(27): Show c.630-314_630-303delAAAAAAAAAAAC	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	6/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	179961195	ATGTGTAT others(5): Show ATGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	220	0.0046	-12	c.93+ others(29): Show c.93+10387_93+10398delCACACATACACA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	2/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	179968721	GTCTGTGT others(5): Show GTCTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01069.hp2 others(6): Show HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01175.hp2 HG02145.hp1 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0024 a0001c0001t0035 a0001c0001t0085	a0001c0001t0003g0044 a0001c0001t0009g0031 a0001c0001t0009g0034 others(6): Show a0001c0001t0003g0044 a0001c0001t0009g0031 a0001c0001t0009g0034 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0018g0043 a0001c0001t0024g0024 a0001c0001t0035g0032 a0001c0001t0085g0033	9	220	0.0409	-12	c.93+ others(27): Show c.93+2861_93+2872delGACACACACAGA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	2/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	179984680	GTCAATTT others(5): Show GTCAATTTGTCTT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	220	0.0046	-12	c.22- others(29): Show c.22-13027_22-13016delAAGACAAATTGA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180023767	CACACAGA others(5): Show CACACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02965.hp1 others(1): Show HG02280.hp2 HG02630.hp1 HG02965.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0041 a0001c0001t0042 others(1): Show a0001c0001t0016 a0001c0001t0041 a0001c0001t0042 a0001c0001t0094	a0001c0001t0016g0197 a0001c0001t0041g0195 a0001c0001t0042g0194 others(1): Show a0001c0001t0016g0197 a0001c0001t0041g0195 a0001c0001t0042g0194 a0001c0001t0094g0196	4	220	0.0182	-12	c.21+ others(29): Show c.21+12800_21+12811delCTCTCTCTGTGT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180023769	CACAGAGA others(5): Show CACAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02109.hp2 others(7): Show HG01261.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp2 HG03453.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0026 a0001c0001t0037 others(4): Show a0001c0001t0003 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0081 a0001c0003t0040 a0001c0003t0057	a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 others(7): Show a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0026g0216 a0001c0001t0037g0215 a0001c0001t0038g0217 a0001c0001t0081g0214 a0001c0003t0040g0052 a0001c0003t0040g0054 a0001c0003t0057g0053	10	220	0.0455	-12	c.21+ others(29): Show c.21+12798_21+12809delCTCTCTCTCTGT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024363	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02109.hp2 others(7): Show HG01261.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp2 HG03453.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0026 a0001c0001t0037 others(4): Show a0001c0001t0003 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0081 a0001c0003t0040 a0001c0003t0057	a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 others(7): Show a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0026g0216 a0001c0001t0037g0215 a0001c0001t0038g0217 a0001c0001t0081g0214 a0001c0003t0040g0052 a0001c0003t0040g0054 a0001c0003t0057g0053	10	220	0.0455	-12	c.21+ others(29): Show c.21+12204_21+12215delGTATATATATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7200903	TAGGGAGA others(5): Show TAGGGAGAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0204 a0001c0001t0017g0204	1	428	0.0023	-12	c.552 others(27): Show c.552-831_552-820delAGAGGGAGAGGG	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203181	ATGCACTG others(5): Show ATGCACTGCACTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01167.hp1 others(25): Show HG00099.hp1 HG00642.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0003 a0001c0001t0004 a0007c0007t0003 a0001c0001t0003 a0001c0001t0004 a0007c0007t0003	a0001c0001t0003g0032 a0001c0001t0003g0195 a0001c0001t0003g0196 others(21): Show a0001c0001t0003g0032 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0298 a0007c0007t0003g0197	28	428	0.0654	-12	c.847 others(27): Show c.847-250_847-239delTGCACTGCACTG	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15			chr12	TogoVar
PEX6_chr6_42958865_42984181	42963226	TGGGGTGG others(5): Show TGGGGTGGGGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02976.hp2 HG03139.hp1 others(3): Show HG02040.hp1 HG02976.hp2 HG03139.hp1 NA18966.hp1 NA18974.hp2 NA19058.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0001 a0002c0002t0001g0165 a0002c0002t0001g0173 others(2): Show a0002c0002t0001g0001 a0002c0002t0001g0165 a0002c0002t0001g0173 a0002c0002t0001g0188 a0003c0004t0001g0022	6	378	0.0159	-12	c.10 others(23): Show c.1097_*1108delCACCCCCACCCC	PEX6	ENSG00000124587.14	transcript	ENST00000304611.13	protein_coding		638		chr6	TogoVar
PEX6_chr6_42958865_42984181	42979627	GGGTTGCA others(5): Show GGGTTGCAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	378	0.0027	-12	c.-48 others(21): Show c.-489_-478delTTTCCTGCAACC	PEX6	ENSG00000124587.14	transcript	ENST00000304611.13	protein_coding		447		chr6	TogoVar
PEX7_chr6_136817592_136918934	136827504	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG02280.hp1 others(9): Show HG01106.hp1 HG01192.hp2 HG02280.hp1 HG02615.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp1 HG03239.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0188 a0001c0001t0002g0196 a0001c0001t0002g0197 others(9): Show a0001c0001t0002g0188 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0314 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0316	12	330	0.0364	-12	c.339 others(29): Show c.339+1069_339+1080delGTGTGTGTGTGT	PEX7	ENSG00000112357.14	transcript	ENST00000318471.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PFAS_chr17_8244289_8275486	8246965	CTTATTTA others(5): Show CTTATTTATTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(60): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18950.hp2 NA18952.hp1 NA18967.hp2 NA18973.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19063.hp1 NA19085.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0011 a0019 a0020 a0021 a0023	a0001c0001 a0002c0002 a0002c0009 others(11): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0004c0004 a0006c0008 a0006c0012 a0008c0007 a0010c0010 a0011c0011 a0019c0022 a0020c0030 a0021c0033 a0023c0032	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(17): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0017 a0002c0002t0019 a0002c0009t0002 a0003c0003t0001 a0004c0004t0002 a0004c0004t0003 a0006c0008t0001 a0006c0012t0004 a0008c0007t0003 a0008c0007t0020 a0010c0010t0003 a0011c0011t0003 a0019c0022t0002 a0020c0030t0002 a0021c0033t0002 a0023c0032t0002	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0151 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0151 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0042 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0004g0003 a0002c0002t0005g0057 a0002c0002t0005g0080 a0002c0002t0017g0051 a0002c0002t0019g0004 a0002c0009t0002g0004 a0003c0003t0001g0005 a0004c0004t0002g0076 a0004c0004t0003g0007 a0004c0004t0003g0025 a0006c0008t0001g0054 a0006c0012t0004g0003 a0008c0007t0003g0018 a0008c0007t0003g0072 a0008c0007t0003g0075 a0008c0007t0020g0018 a0010c0010t0003g0007 a0010c0010t0003g0078 a0011c0011t0003g0007 a0011c0011t0003g0074 a0019c0022t0002g0077 a0020c0030t0002g0004 a0021c0033t0002g0067 a0023c0032t0002g0004	63	388	0.1624	-12	c.-24 others(23): Show c.-2453_-2442delTTATTTATTTAT	PFAS	ENSG00000178921.14	transcript	ENST00000314666.11	protein_coding		2323		chr17	TogoVar
PFDN1_chr5_140240035_140308101	140264020	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG03225.hp2 others(2): Show HG01243.hp1 HG02615.hp2 HG03225.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0110	5	330	0.0152	-12	c.285 others(31): Show c.285+17417_285+17428delTTTTTTTTTTTT	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3			chr5	TogoVar
PFDN1_chr5_140240035_140308101	140265392	GCTATACT others(5): Show GCTATACTTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	330	0.0030	-12	c.285 others(31): Show c.285+16045_285+16056delGGAAAAGTATAG	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3			chr5	TogoVar
PFDN2_chr1_161095561_161123037	161097676	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	370	0.0027	-12	c.29 others(23): Show c.2995_*3006delTAGAGAGAGAGA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2884		chr1	TogoVar
PFDN2_chr1_161095561_161123037	161097728	CTCTCTCT others(5): Show CTCTCTCTCTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00280.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	370	0.0054	-12	c.29 others(23): Show c.2943_*2954delCACAGAGAGAGA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2832		chr1	TogoVar
PFDN2_chr1_161095561_161123037	161097730	CTCTCTCT others(5): Show CTCTCTCTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA19080.hp1 NA18997.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0002 a0001c0001t0001g0087	2	370	0.0054	-12	c.29 others(23): Show c.2941_*2952delCACACAGAGAGA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2830		chr1	TogoVar
PFDN2_chr1_161095561_161123037	161097732	CTCTCTGT others(5): Show CTCTCTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01934.hp1 HG02080.hp1 others(8): Show HG01884.hp1 HG01934.hp1 HG02080.hp1 HG03831.hp2 NA18612.hp1 NA18942.hp1 NA18946.hp2 NA19005.hp1 NA19012.hp2 NA19082.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0146	11	370	0.0297	-12	c.29 others(23): Show c.2939_*2950delCACACACAGAGA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2828		chr1	TogoVar
PFDN2_chr1_161095561_161123037	161097736	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02559.hp2 HG01358.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0138 a0001c0001t0001g0009 a0001c0001t0001g0138	2	370	0.0054	-12	c.29 others(23): Show c.2935_*2946delCACACACACACA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2824		chr1	TogoVar
PFKFB1_chrX_54927961_54999188	54980710	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	222	0.0045	-12	c.97+ others(29): Show c.97+13189_97+13200delGTGTGTGTGTGT	PFKFB1	ENSG00000158571.11	transcript	ENST00000375006.8	protein_coding	1/13			chrX	TogoVar
PFKFB1_chrX_54927961_54999188	54991567	GTGTGTTT others(5): Show GTGTGTTTGTATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	222	0.0045	-12	c.97+ others(27): Show c.97+2332_97+2343delTATACAAACACA	PFKFB1	ENSG00000158571.11	transcript	ENST00000375006.8	protein_coding	1/13			chrX	TogoVar
PFKFB2_chr1_207048275_207082817	207061051	TTTTATAT others(5): Show TTTTATATATATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(1): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0142	4	342	0.0117	-12	c.86- others(25): Show c.86-880_86-869delATCTTTATATAT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB2_chr1_207048275_207082817	207061073	ATCTTTAT others(5): Show ATCTTTATATATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 HG03209.hp1 HG02280.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0008 a0001c0001t0018	a0001c0001t0008g0161 a0001c0001t0008g0163 a0001c0001t0018g0162 a0001c0001t0008g0161 a0001c0001t0008g0163 a0001c0001t0018g0162	3	342	0.0088	-12	c.86- others(25): Show c.86-878_86-867delCTTTATATATCT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB2_chr1_207048275_207082817	207061109	CTATATAT others(5): Show CTATATATCTTTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(10): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG01069.hp1 HG01109.hp2 HG02280.hp2 HG02895.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0140 others(10): Show a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0246 a0001c0001t0008g0161 a0001c0001t0008g0163 a0001c0001t0015g0065 a0001c0001t0015g0071 a0001c0001t0017g0075 a0001c0001t0018g0162	13	342	0.0380	-12	c.86- others(25): Show c.86-812_86-801delCTTTATATATAT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB4_chr3_48512684_48561803	48559898	CCACACAC others(5): Show CCACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02615.hp2 HG02818.hp1 HG01261.hp1 HG02615.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0135 a0001c0001t0001g0172 a0001c0001t0001g0176	3	246	0.0122	-12	c.-31 others(23): Show c.-3133_-3122delTGTGTGTGTGTG	PFKFB4	ENSG00000114268.12	transcript	ENST00000232375.8	protein_coding		3096		chr3	TogoVar
PFKL_chr21_44295053_44332373	44311150	GCACACAC others(5): Show GCACACACAGACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02145.hp2 others(23): Show HG01261.hp1 HG02055.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0065 a0001c0001t0001g0116 a0001c0001t0001g0119 others(19): Show a0001c0001t0001g0065 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0014 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0111 a0001c0001t0002g0172 a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0121 a0001c0001t0006g0024 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0004t0001g0032	26	392	0.0663	-12	c.237 others(25): Show c.237+78_237+89delCACACACACAGA	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKM_chr12_48114364_48151404	48119627	AGGAATCT others(5): Show AGGAATCTGGGAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	412	0.0024	-12	c.-9+ others(25): Show c.-9+224_-9+235delAATCTGGGATGG	PFKM	ENSG00000152556.17	transcript	ENST00000359794.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3062739	TCATTCAC others(5): Show TCATTCACTCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0186 a0001c0005t0003g0186	1	402	0.0025	-12	c.-48 others(23): Show c.-4856_-4845delCATTCACTCACC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		4808		chr10	TogoVar
PFKP_chr10_3062548_3141802	3064908	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0367 a0001c0003t0001g0367	1	402	0.0025	-12	c.-26 others(23): Show c.-2687_-2676delAAAAAAAAAAAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		2639		chr10	TogoVar
PFKP_chr10_3062548_3141802	3077248	ACTTTTTT others(5): Show ACTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02735.hp2 HG03834.hp2 HG02300.hp2 HG02735.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0020 a0001c0001 a0001c0009 a0001c0020	a0001c0001t0003 a0001c0009t0001 a0001c0020t0001 a0001c0001t0003 a0001c0009t0001 a0001c0020t0001	a0001c0001t0003g0323 a0001c0009t0001g0322 a0001c0020t0001g0324 a0001c0001t0003g0323 a0001c0009t0001g0322 a0001c0020t0001g0324	3	402	0.0075	-12	c.113 others(29): Show c.113-5127_113-5116delCTTTTTTTTTTT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3081977	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02559.hp2 HG03942.hp1 others(4): Show HG02155.hp1 HG02559.hp2 HG03942.hp1 NA18747.hp1 NA19043.hp1 NA19063.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 others(1): Show a0001c0002 a0001c0003 a0001c0011 a0001c0017	a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 others(2): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0011t0006 a0001c0017t0011	a0001c0002t0002g0129 a0001c0003t0001g0123 a0001c0003t0001g0151 others(4): Show a0001c0002t0002g0129 a0001c0003t0001g0123 a0001c0003t0001g0151 a0001c0003t0001g0367 a0001c0003t0007g0149 a0001c0011t0006g0188 a0001c0017t0011g0003	7	402	0.0174	-12	c.113 others(27): Show c.113-390_113-379delTTTTTTTTTTTT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3096879	CCATCCTG others(5): Show CCATCCTGGCTAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(127): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp1 HG01884.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18981.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0028 a0001c0038 a0001c0039 a0001c0043 a0001c0049 a0001c0052 a0001c0055 a0001c0056 a0001c0057 a0001c0062 a0001c0064 a0001c0066 a0003c0030 a0008c0051 a0009c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(53): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0001c0003t0012 a0001c0003t0014 a0001c0004t0004 a0001c0004t0006 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0005t0008 a0001c0006t0001 a0001c0006t0007 a0001c0006t0013 a0001c0006t0021 a0001c0007t0005 a0001c0007t0017 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0009t0007 a0001c0010t0001 a0001c0012t0002 a0001c0012t0004 a0001c0015t0001 a0001c0016t0009 a0001c0017t0011 a0001c0018t0005 a0001c0019t0004 a0001c0021t0002 a0001c0022t0001 a0001c0025t0009 a0001c0026t0001 a0001c0028t0007 a0001c0038t0002 a0001c0039t0005 a0001c0043t0002 a0001c0049t0005 a0001c0052t0006 a0001c0055t0005 a0001c0056t0003 a0001c0057t0009 a0001c0062t0001 a0001c0064t0002 a0001c0066t0007 a0003c0030t0003 a0008c0051t0004 a0009c0054t0003	a0001c0001t0002g0052 a0001c0001t0002g0251 a0001c0001t0002g0298 others(127): Show a0001c0001t0002g0052 a0001c0001t0002g0251 a0001c0001t0002g0298 a0001c0001t0002g0339 a0001c0001t0002g0363 a0001c0001t0002g0381 a0001c0001t0003g0007 a0001c0001t0003g0034 a0001c0001t0003g0070 a0001c0001t0003g0230 a0001c0001t0003g0260 a0001c0001t0004g0017 a0001c0001t0004g0256 a0001c0001t0004g0274 a0001c0001t0004g0329 a0001c0001t0006g0127 a0001c0002t0002g0029 a0001c0002t0002g0040 a0001c0002t0002g0047 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0076 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0112 a0001c0002t0002g0148 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0246 a0001c0002t0002g0290 a0001c0002t0002g0374 a0001c0002t0002g0377 a0001c0002t0003g0155 a0001c0002t0003g0314 a0001c0002t0004g0283 a0001c0002t0006g0189 a0001c0003t0001g0021 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0151 a0001c0003t0001g0169 a0001c0003t0001g0284 a0001c0003t0001g0301 a0001c0003t0001g0367 a0001c0003t0007g0149 a0001c0003t0007g0157 a0001c0003t0009g0190 a0001c0003t0012g0263 a0001c0003t0014g0228 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0006g0049 a0001c0004t0006g0153 a0001c0004t0006g0293 a0001c0005t0002g0004 a0001c0005t0002g0282 a0001c0005t0002g0326 a0001c0005t0004g0013 a0001c0005t0004g0175 a0001c0005t0006g0046 a0001c0005t0006g0053 a0001c0005t0006g0217 a0001c0005t0006g0285 a0001c0005t0008g0306 a0001c0006t0001g0008 a0001c0006t0001g0065 a0001c0006t0001g0095 a0001c0006t0001g0203 a0001c0006t0001g0218 a0001c0006t0001g0291 a0001c0006t0001g0327 a0001c0006t0007g0082 a0001c0006t0007g0250 a0001c0006t0013g0019 a0001c0006t0021g0144 a0001c0007t0005g0093 a0001c0007t0005g0179 a0001c0007t0005g0232 a0001c0007t0005g0281 a0001c0007t0005g0368 a0001c0007t0005g0388 a0001c0007t0005g0389 a0001c0007t0017g0160 a0001c0008t0001g0267 a0001c0008t0005g0105 a0001c0008t0005g0299 a0001c0008t0005g0387 a0001c0008t0005g0393 a0001c0008t0005g0401 a0001c0009t0001g0096 a0001c0009t0007g0081 a0001c0010t0001g0080 a0001c0010t0001g0163 a0001c0010t0001g0231 a0001c0010t0001g0355 a0001c0010t0001g0358 a0001c0012t0002g0041 a0001c0012t0004g0242 a0001c0015t0001g0379 a0001c0016t0009g0180 a0001c0017t0011g0003 a0001c0017t0011g0357 a0001c0018t0005g0012 a0001c0018t0005g0174 a0001c0019t0004g0083 a0001c0019t0004g0084 a0001c0021t0002g0143 a0001c0022t0001g0280 a0001c0025t0009g0187 a0001c0026t0001g0171 a0001c0026t0001g0400 a0001c0028t0007g0214 a0001c0028t0007g0244 a0001c0038t0002g0325 a0001c0039t0005g0372 a0001c0043t0002g0371 a0001c0049t0005g0370 a0001c0052t0006g0099 a0001c0055t0005g0233 a0001c0056t0003g0331 a0001c0057t0009g0332 a0001c0062t0001g0176 a0001c0064t0002g0147 a0001c0066t0007g0257 a0003c0030t0003g0039 a0008c0051t0004g0110 a0009c0054t0003g0265	130	402	0.3234	-12	c.187 others(29): Show c.187-2393_187-2382delTCCTGGCTAACA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM1_chr10_97421191_97438444	97421856	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(206): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0004t0002 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0006g0065 a0001c0001t0008g0001 a0001c0004t0002g0006 a0001c0005t0001g0003	209	438	0.4772	-12	c.-44 others(23): Show c.-4451_-4440delAAATAAATAAAT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		4334		chr10	TogoVar
PGAM5_chr12_132705842_132727734	132722216	CTTTTATG others(5): Show CTTTTATGCTTAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0093 a0001c0001t0033g0093	1	394	0.0025	-12	c.13 others(23): Show c.1389_*1400delTTTTATGCTTAG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	6/6	1389		chr12	TogoVar
PGAP1_chr2_196828004_196931707	196828230	TCACACAC others(5): Show TCACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG06807.hp2 NA18522.hp2 others(1): Show HG01496.hp1 HG06807.hp2 NA18522.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0158 a0001c0001t0009g0003 a0001c0001t0009g0096 a0001c0001t0002g0158 a0001c0001t0009g0003 a0001c0001t0009g0096	4	188	0.0213	-12	c.12 others(25): Show c.12992_*13003delTGTGTGTGTGTG	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		4773		chr2	TogoVar
PGAP1_chr2_196828004_196931707	196922565	CACACACA others(5): Show CACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0179 a0001c0003t0007g0179	1	188	0.0053	-12	c.148 others(29): Show c.148-2427_148-2416delCTGTGTGTGTGT	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding	1/26			chr2	TogoVar
PGAP1_chr2_196828004_196931707	196927409	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01168.hp1 others(7): Show HG00642.hp1 HG00733.hp1 HG01168.hp1 HG01169.hp1 HG02717.hp1 HG03491.hp1 NA18971.hp1 NA19057.hp2 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0002 a0001c0001t0011 a0001c0001t0018	a0001c0001t0002g0133 a0001c0001t0002g0150 a0001c0001t0002g0151 others(7): Show a0001c0001t0002g0133 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0011g0142 a0001c0001t0011g0169 a0001c0001t0018g0159	10	188	0.0532	-12	c.-80 others(21): Show c.-805_-794delTTTTTTTTTTTT	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		703		chr2	TogoVar
PGAP2_chr11_3803560_3831371	3811663	AACAGAGT others(5): Show AACAGAGTTTGAC	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	418	0.0024	-12	c.165 others(27): Show c.165+243_165+254delGAGTTTGACACA	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGAP2_chr11_3803560_3831371	3814748	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01123.hp2 others(10): Show HG00735.hp1 HG01106.hp1 HG01123.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG03540.hp1 HG03654.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0038	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(9): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0266 a0001c0001t0006g0267 a0001c0001t0006g0272 a0001c0001t0009g0018 a0001c0001t0009g0067 a0001c0001t0009g0258 a0001c0001t0009g0259 a0001c0001t0010g0195 a0001c0001t0038g0018	13	418	0.0311	-12	c.166 others(29): Show c.166-2551_166-2540delTTCTTTCTTTCT	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGAP2_chr11_3803560_3831371	3814804	CTTTCTTT others(5): Show CTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG02129.hp2 others(8): Show HG01255.hp1 HG01255.hp2 HG02129.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp2 HG02735.hp2 HG03017.hp2 NA18943.hp2 NA18998.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0005c0004t0005	a0001c0001t0001g0041 a0001c0001t0001g0097 a0001c0001t0001g0176 others(7): Show a0001c0001t0001g0041 a0001c0001t0001g0097 a0001c0001t0001g0176 a0001c0001t0002g0099 a0001c0001t0002g0175 a0001c0001t0008g0085 a0001c0001t0008g0098 a0001c0001t0011g0095 a0001c0001t0026g0061 a0005c0004t0005g0096	11	418	0.0263	-12	c.166 others(29): Show c.166-2547_166-2536delTTCTTTCTCTTT	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGAP2_chr11_3803560_3831371	3814905	GCCCTTTC others(5): Show GCCCTTTCCCTTT	G G	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	418	0.0024	-12	c.166 others(29): Show c.166-2433_166-2422delCTTTCCCTTTCC	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGAP2_chr11_3803560_3831371	3823024	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01433.hp2 others(10): Show HG00639.hp2 HG01106.hp1 HG01433.hp2 HG02451.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0026 a0001c0001t0033 a0002c0002t0023 a0002c0002t0027	a0001c0001t0006g0027 a0001c0001t0006g0261 a0001c0001t0006g0267 others(8): Show a0001c0001t0006g0027 a0001c0001t0006g0261 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0008g0269 a0001c0001t0009g0259 a0001c0001t0012g0251 a0001c0001t0026g0061 a0001c0001t0033g0265 a0002c0002t0023g0270 a0002c0002t0027g0186	13	418	0.0311	-12	c.349 others(27): Show c.349-840_349-829delTTTTTTTTTTTT	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGAP4_chr9_101468170_101492173	101491812	GATATATA others(5): Show GATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp2 NA18940.hp1 others(1): Show HG02071.hp1 HG02071.hp2 NA18940.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0001 a0001c0001t0002g0007	4	460	0.0087	-12	c.-49 others(23): Show c.-4953_-4942delATATATATATAT	PGAP4	ENSG00000165152.9	transcript	ENST00000374848.8	protein_coding		4640		chr9	TogoVar
PGAP6_chr16_365788_386978	378504	CCCCACCC others(5): Show CCCCACCCGCACT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02818.hp1 HG03041.hp2 others(1): Show HG00738.hp2 HG02818.hp1 HG03041.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0005 a0002c0002t0003 a0001c0007t0005 a0002c0002t0003	a0001c0007t0005g0016 a0001c0007t0005g0027 a0002c0002t0003g0146 a0001c0007t0005g0016 a0001c0007t0005g0027 a0002c0002t0003g0146	4	376	0.0106	-12	c.122 others(27): Show c.122-668_122-657delAGTGCGGGTGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	381884	CCGGGCAG others(5): Show CCGGGCAGCCTCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0175 a0002c0002t0022g0175	1	376	0.0027	-12	c.-75 others(19): Show c.-75_-64delAGAGGCTGCCCG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/13	64		chr16	TogoVar
PGBD1_chr6_28276572_28307549	28297816	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0102 a0002c0003t0003g0102	1	408	0.0025	-12	c.773 others(25): Show c.773-61_773-50delTTTTTTTTTTTT	PGBD1	ENSG00000137338.6	transcript	ENST00000682144.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
PGBD5_chr1_230309490_230431332	230335361	AGACACAC others(5): Show AGACACACAGACT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01978.hp1 others(38): Show HG00741.hp2 HG01255.hp1 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02109.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18971.hp2 NA18974.hp1 NA18986.hp1 NA18998.hp1 NA19091.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0024 a0001c0001t0028 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0060 a0001c0001t0076 a0001c0001t0081 a0001c0001t0090 a0001c0001t0116 a0001c0001t0119 a0001c0001t0131 a0001c0001t0138 a0001c0002t0001 a0001c0002t0003 a0001c0002t0123 a0004c0010t0006	a0001c0001t0002g0217 a0001c0001t0004g0092 a0001c0001t0004g0139 others(38): Show a0001c0001t0002g0217 a0001c0001t0004g0092 a0001c0001t0004g0139 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0156 a0001c0001t0004g0172 a0001c0001t0004g0227 a0001c0001t0007g0190 a0001c0001t0007g0191 a0001c0001t0007g0198 a0001c0001t0007g0233 a0001c0001t0010g0019 a0001c0001t0010g0024 a0001c0001t0010g0057 a0001c0001t0010g0087 a0001c0001t0010g0116 a0001c0001t0024g0117 a0001c0001t0024g0118 a0001c0001t0024g0119 a0001c0001t0028g0018 a0001c0001t0028g0051 a0001c0001t0040g0029 a0001c0001t0040g0129 a0001c0001t0042g0003 a0001c0001t0045g0007 a0001c0001t0054g0189 a0001c0001t0055g0143 a0001c0001t0058g0199 a0001c0001t0060g0044 a0001c0001t0076g0064 a0001c0001t0081g0147 a0001c0001t0090g0009 a0001c0001t0116g0086 a0001c0001t0119g0056 a0001c0001t0131g0269 a0001c0001t0138g0255 a0001c0002t0001g0176 a0001c0002t0003g0259 a0001c0002t0123g0110 a0004c0010t0006g0037	41	288	0.1424	-12	c.107 others(31): Show c.1075+1735_1075+1746delAGTCTGTGTGTC	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	4/6			chr1	TogoVar
PGBD5_chr1_230309490_230431332	230335612	CACACACA others(5): Show CACACACACAGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp2 HG02965.hp2 others(2): Show HG02109.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0040 a0001c0001t0024 a0001c0001t0040	a0001c0001t0024g0117 a0001c0001t0024g0118 a0001c0001t0024g0119 others(2): Show a0001c0001t0024g0117 a0001c0001t0024g0118 a0001c0001t0024g0119 a0001c0001t0040g0029 a0001c0001t0040g0129	5	288	0.0174	-12	c.107 others(31): Show c.1075+1484_1075+1495delACCTGTGTGTGT	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	4/6			chr1	TogoVar

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