Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUDT2_chr9_34324569_34348699	34346370	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	433	0.0023	-50	c.29 others(61): Show c.2931_*2980delTATATATATATATATATATATATATATATATATA TATATATATATATATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2672		chr9	TogoVar
NUP155_chr5_37283137_37376106	37295970	TGCCCGGC others(43): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGAGGGGGGGGTCAGCCCCC C	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04199.hp2 HG03017.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0038 a0001c0003t0001 a0001c0003t0038	a0001c0003t0001g0242 a0001c0003t0038g0283 a0001c0003t0001g0242 a0001c0003t0038g0283	2	298	0.0067	-50	c.379 others(69): Show c.3794-1555_3794-1506delGGGGGGCTGACCCCCCCCTCCTCCCT CCCGGATGGGGCGGCTGGCCGGGC	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	32/34			chr5	TogoVar
NUP54_chr4_76109664_76153397	76125276	TCTCACAG others(43): Show TCTCACAGAAACAAAAAACAAAAAACAGAGTGAGACTCCATCACACACAC A	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0064 a0002c0002t0003g0064	1	366	0.0027	-50	c.105 others(67): Show c.1057-570_1057-521delTGTGTGTGTGATGGAGTCTCACTCTGTT TTTTGTTTTTTGTTTCTGTGAG	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUSAP1_chr15_41327881_41386046	41382480	GCAGCCAC others(43): Show GCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp1 others(13): Show HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0171 a0002c0002t0001g0010 a0002c0002t0001g0237 others(12): Show a0001c0001t0001g0171 a0002c0002t0001g0010 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0276 a0002c0002t0001g0277	16	290	0.0552	-50	c.22 others(61): Show c.2295_*2344delCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGC	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		1435		chr15	TogoVar
NWD2_chr4_37239743_37454463	37405421	TAATAGAA others(43): Show TAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA G	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	30	0.0333	-50	c.358 others(69): Show c.358-25128_358-25079delTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2B_chrX_102355395_102445008	102412526	AAGAAGAA others(43): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGA G	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	54	0.0185	-50	c.-54 others(69): Show c.-54+25977_-54+26026delCTCTTCTTCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
OCA2_chr15_27749875_28104315	28070438	ATGGGGGG others(43): Show ATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCAGTCCGGGAGGGAG G	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0001 a0004c0040t0001	a0004c0040t0001g0081 a0004c0040t0001g0081	1	108	0.0093	-50	c.227 others(69): Show c.227+11160_227+11209delCCTCCCTCCCGGACTGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCCCA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar
ODAD3_chr19_11415605_11440121	11425022	CATATGTG others(43): Show CATATGTGCATATATACATATGTGTATATATGTGTATATGTGTATATATG T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02280.hp2 others(6): Show HG01884.hp1 HG01891.hp2 HG02280.hp2 HG02486.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0142	9	382	0.0236	-50	c.964 others(66): Show c.964-1043_964-994delACATATATACACATATACACATATATACA CATATGTATATATGCACATAT	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF2L_chr1_86341837_86401323	86371612	CAAATATT others(43): Show CAAATATTCAGGGTTCATTATAGTGTTATCAGTAATACATTTCAAATAAT A	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19006.hp1 NA19079.hp1 NA18961.hp1 NA19006.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0160 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0160	3	404	0.0074	-50	c.921 others(65): Show c.921-509_921-460delTATTATTTGAAATGTATTACTGATAACACT ATAATGAACCCTGAATATTT	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding	9/16			chr1	TogoVar
ODF3_chr11_191761_205258	191841	AACCCTAA others(43): Show AACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01106.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	386	0.0052	-50	c.-52 others(61): Show c.-5213_-5164delACCCTAACCCTAACCCCTAACCCCTAACCCTAAC CCTAACCCTAACCCCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		4919		chr11	TogoVar
OGFOD3_chr17_82384210_82423586	82388826	GGAACCCC others(43): Show GGAACCCCTCCCCGGAGCCCCTCCCCGGAGCCCTCCCCGGAACCCTCCCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG04199.hp1 HG02976.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0027 a0001c0001t0003 a0001c0002t0027	a0001c0001t0003g0232 a0001c0002t0027g0097 a0001c0001t0003g0232 a0001c0002t0027g0097	2	345	0.0058	-50	c.35 others(61): Show c.3522_*3571delTGGGGAGGGTTCCGGGGAGGGCTCCGGGGAGGGG CTCCGGGGAGGGGTTC	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		383		chr17	TogoVar
OIP5_chr15_41304273_41337591	41321208	TCAGCCCC others(43): Show TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTGGT C	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	354	0.0056	-50	c.390 others(67): Show c.390-1478_390-1429delGACCACCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTG	OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	2/4			chr15	TogoVar
OIP5_chr15_41304273_41337591	41321239	GGGAGGGA others(43): Show GGGAGGGAGGTGGGGTGGTCCAGCCCCCCGCCCGGCCAGCCGTCCCGTCC T	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp1 HG03831.hp2 others(2): Show HG03017.hp2 HG03239.hp1 HG03831.hp2 HG03834.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0006t0001g0078	5	354	0.0141	-50	c.390 others(67): Show c.390-1509_390-1460delAGGACGGGACGGCTGGCCGGGCGGGGGG CTGGACCACCCCACCTCCCTCC	OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	2/4			chr15	TogoVar
OMP_chr11_77097840_77108331	77098782	ACCCCCCA others(43): Show ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0000 a0006c0006t0001g0000	1	433	0.0023	-50	c.-40 others(61): Show c.-4057_-4008delCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4057		chr11	TogoVar
OR11G2_chr14_20185896_20206075	20187168	GACAGAGC others(43): Show GACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAAGAGAA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	480	0.0021	-50	c.-45 others(61): Show c.-4502_-4453delACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAA GAAAAAAAAAGAGAAA	OR11G2	ENSG00000196832.5	transcript	ENST00000641879.2	protein_coding		3727		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636345	TCCCTCTC others(43): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC C	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	354	0.0028	-50	c.-27 others(67): Show c.-27-1557_-27-1508delGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR8S1_chr12_48520632_48531570	48521340	GTGGAAAG others(43): Show GTGGAAAGAGAGGGAGAGGGAGACGGTGGAAAGAGAGGGAGAGGGAGACC A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01943.hp1 HG03225.hp1 HG01884.hp1 HG01943.hp1 HG03225.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0006c0007t0001 a0002c0002t0001 a0006c0007t0001	a0002c0002t0001g0000 a0006c0007t0001g0000 a0002c0002t0001g0000 a0006c0007t0001g0000	3	320	0.0094	-50	c.-42 others(61): Show c.-4291_-4242delTGGAAAGAGAGGGAGAGGGAGACGGTGGAAAGAG AGGGAGAGGGAGACCA	OR8S1	ENSG00000284723.2	transcript	ENST00000641651.1	protein_coding		4291		chr12	TogoVar
OR8S1_chr12_48520632_48531570	48521364	GGTGGAAA others(43): Show GGTGGAAAGAGAGGGAGAGGGAGACCATGGAAAGAGAGGGAGAGGGAGAC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA19005.hp2 NA19009.hp1 NA18966.hp2 NA19005.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	315	0.0095	-50	c.-42 others(61): Show c.-4267_-4218delGTGGAAAGAGAGGGAGAGGGAGACCATGGAAAGA GAGGGAGAGGGAGACC	OR8S1	ENSG00000284723.2	transcript	ENST00000641651.1	protein_coding		4267		chr12	TogoVar
OSBPL10_chr3_31655825_31986262	31812768	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02647.hp2 others(1): Show HG01891.hp2 HG02559.hp2 HG02647.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0028 others(1): Show a0001c0001 a0001c0002 a0001c0028 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0028t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0028t0001 a0002c0003t0001	a0001c0001t0001g0066 a0001c0002t0001g0133 a0001c0028t0001g0093 others(1): Show a0001c0001t0001g0066 a0001c0002t0001g0133 a0001c0028t0001g0093 a0002c0003t0001g0139	4	184	0.0217	-50	c.729 others(69): Show c.729+17222_729+17271delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812797	AGAAAGAA others(43): Show AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA C	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0164 a0002c0014t0003g0164	1	184	0.0054	-50	c.729 others(69): Show c.729+17193_729+17242delGTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTTTCTTTCTTTCTTTCTTTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL6_chr2_178189512_178407893	178226268	GGGATGCT others(43): Show GGGATGCTGGGTGGTGCAGTCACCTTCCATGCTGGTAGCACAGTGGGCAA A	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG01515.hp1 others(4): Show HG01169.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG04228.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0022	a0001c0001t0001g0051 a0001c0001t0005g0039 a0001c0001t0005g0065 others(4): Show a0001c0001t0001g0051 a0001c0001t0005g0039 a0001c0001t0005g0065 a0001c0001t0007g0064 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0022g0066	7	198	0.0354	-50	c.-35 others(71): Show c.-351+31630_-351+31679delAGCACAGTGGGCAAAGGATGCTGG GTGGTGCAGTCACCTTCCATGCTGGT	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
OSTF1_chr9_75083514_75152265	75128456	CATATATA others(43): Show CATATATATATATATTTTGTCCATATATATATATATATATTTTGTCCATA T	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0299 a0001c0001t0023g0299	1	264	0.0038	-50	c.132 others(65): Show c.132+902_132+951delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510505	TACATATA others(43): Show TACATATATATGTATATCTATATGTAACATACATATGTATATCTATATGT A	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0044 a0006c0019t0044	a0006c0019t0044g0056 a0006c0019t0044g0056	1	241	0.0041	-50	c.894 others(67): Show c.894-6737_894-6688delTACATATAGATATACATATGTATGTTAC ATATAGATATACATATATATGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510511	TATATGTA others(43): Show TATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA C	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18962.hp2 NA19065.hp2 HG02572.hp2 NA18962.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0050 a0002c0007t0003 a0001c0004t0050 a0002c0007t0003	a0001c0004t0050g0010 a0002c0007t0003g0158 a0002c0007t0003g0159 a0001c0004t0050g0010 a0002c0007t0003g0158 a0002c0007t0003g0159	3	224	0.0134	-50	c.894 others(67): Show c.894-6743_894-6694delGTATGTTACATATAGATATACATATGTA TGTTACATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511068	TATATGTA others(43): Show TATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA C	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp2 HG03942.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0069 a0002c0003t0003g0076 a0002c0003t0003g0069 a0002c0003t0003g0076	2	238	0.0084	-50	c.894 others(67): Show c.894-7300_894-7251delGTATGTTACATATAGATATACATATGTA TGTTACATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(43): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT C	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02809.hp2 others(6): Show HG02257.hp2 HG02630.hp1 HG02809.hp2 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 a0004c0006t0003	a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0178 others(5): Show a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0178 a0001c0001t0003g0226 a0001c0001t0003g0272 a0001c0002t0002g0055 a0001c0002t0008g0054 a0004c0006t0003g0053	9	352	0.0256	-50	c.-18 others(71): Show c.-180+16038_-180+16087delGAAATGAAATGAAATGAAATGAAA TAAAATAAAATAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368629	TATTTCAT others(43): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT C	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp2 HG04204.hp1 others(2): Show HG01346.hp1 HG01943.hp2 HG04204.hp1 NA18975.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120	5	151	0.0331	-50	c.-18 others(71): Show c.-180+16013_-180+16062delGACATGAAATGAAATGAAATGAAA TGAAATGAAATGAAATGAAATGAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PA2G4_chr12_56099559_56118910	56116455	AAAACCAA others(43): Show AAAACCAAATACTCGGTCTTCCGAAAGAACTAACTCAACCTACCCTTCTA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	350	0.0029	-50	c.35 others(61): Show c.3568_*3617delAAACCAAATACTCGGTCTTCCGAAAGAACTAACT CAACCTACCCTTCTAC	PA2G4	ENSG00000170515.14	transcript	ENST00000303305.11	protein_coding		2546		chr12	TogoVar
PAAF1_chr11_73871999_73936114	73897187	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02630.hp1 others(2): Show HG01891.hp2 HG02145.hp1 HG02630.hp1 HG03130.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0002c0002t0002 a0003c0003t0002 a0001c0001t0005 a0002c0002t0002 a0003c0003t0002	a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 others(2): Show a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0002c0002t0002g0077 a0003c0003t0002g0301	5	366	0.0137	-50	c.283 others(67): Show c.283-1922_283-1873delGGCGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABIR2_chrX_134764566_134802205	134788222	TTATATAT others(43): Show TTATATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTT A	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA21309.hp1 HG02572.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	204	0.0098	-50	c.435 others(65): Show c.435+458_435+507delTAACGTGTATATATTACACATATATAACGT GTATATATTACACATATATA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172362	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02559.hp1 others(3): Show HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02647.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0032 a0001c0001t0043 a0001c0001t0023 a0001c0001t0032 a0001c0001t0043	a0001c0001t0023g0020 a0001c0001t0032g0121 a0001c0001t0032g0123 others(1): Show a0001c0001t0023g0020 a0001c0001t0032g0121 a0001c0001t0032g0123 a0001c0001t0043g0120	6	430	0.0140	-50	c.46 others(61): Show c.4664_*4713delTATATATATATATATATATATATATATATATATA TATATATATTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1318		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172366	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG03579.hp1 HG01074.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0124 a0001c0001t0028g0126 a0001c0001t0028g0124 a0001c0001t0028g0126	2	424	0.0047	-50	c.46 others(61): Show c.4668_*4717delTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1322		chr11	TogoVar
PAH_chr12_102831889_102922244	102868038	ACCTATAT others(43): Show ACCTATATATATGTATATATATACACATATATATACATATATGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	312	0.0032	-50	c.442 others(67): Show c.442-1425_442-1376delCACACACACATATATGTATATATATGTG TATATATATACATATATATAGG	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102868088	GTATATAT others(43): Show GTATATATATATATATACACATATATATACATATATGTGTATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0255 a0001c0003t0005g0255	1	242	0.0041	-50	c.442 others(67): Show c.442-1475_442-1426delTATATATATATACACATATATGTATATA TATGTGTATATATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PALD1_chr10_70473767_70573450	70508793	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGCAGGCCTGTGGGAGCTGCGGAAC C	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0229 a0001c0001t0015g0229	1	306	0.0033	-50	c.-29 others(69): Show c.-29-17115_-29-17066delTGTGTGTGTGTGCAGGCCTGTGGGAG CTGCGGAACCTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALMD_chr1_99641113_99699535	99683038	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG00741.hp1 others(35): Show HG00438.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG02683.hp1 HG02896.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18980.hp2 NA18992.hp2 NA18999.hp2 NA19001.hp1 NA19011.hp2 NA19068.hp1 NA19091.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0330 a0001c0001t0001g0331 a0010c0013t0001g0308	38	378	0.1005	-50	c.252 others(67): Show c.252-3618_252-3569delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300898	TTCCTTCC others(43): Show TTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTC C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18986.hp2 NA19000.hp2 HG02109.hp2 NA18986.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0003g0131 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0003g0131	3	278	0.0108	-50	c.-27 others(69): Show c.-277+1844_-277+1893delCCTTCCTTCCTTCCTTTCTCTCTCTC TCTCTCTCTCTCTCTTTCTTTCCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300900	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCCT T	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	270	0.0037	-50	c.-27 others(69): Show c.-277+1848_-277+1897delCCTTCCTTCCTTTCTCTCTCTCTCTC TCTCTCTCTCTTTCTTTCCTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44122512	GAGAGAGA others(43): Show GAGAGAGACAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGA C	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG03225.hp1 others(4): Show HG02258.hp2 HG02630.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0003c0033	a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 others(4): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0002t0001 a0003c0006t0005 a0003c0006t0056 a0003c0033t0002	a0001c0001t0008g0149 a0001c0001t0009g0321 a0001c0001t0023g0109 others(4): Show a0001c0001t0008g0149 a0001c0001t0009g0321 a0001c0001t0023g0109 a0001c0002t0001g0118 a0003c0006t0005g0097 a0003c0006t0056g0317 a0003c0033t0002g0195	7	321	0.0218	-50	c.376 others(67): Show c.376+3380_376+3429delCAGAGAGACAGAGAGAGAGAGAGAGAGA GAGAGACACAGAGACAGAGAGA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAX5_chr9_36828269_37039268	36973083	CGGAAAGG others(43): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA A	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0097 a0001c0002t0063g0097	1	216	0.0046	-50	c.605 others(67): Show c.605-6409_605-6360delTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973085	GAAAGGAA others(43): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(68): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02738.hp1 HG02976.hp1 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18990.hp2 NA18994.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp1 NA19074.hp1 NA19077.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0049 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0089 a0001c0001t0091 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0021 a0001c0002t0083 a0001c0004t0015	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(68): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0255 a0001c0001t0002g0136 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0225 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0046 a0001c0001t0003g0071 a0001c0001t0008g0262 a0001c0001t0008g0265 a0001c0001t0008g0266 a0001c0001t0009g0048 a0001c0001t0009g0059 a0001c0001t0014g0031 a0001c0001t0016g0120 a0001c0001t0016g0177 a0001c0001t0017g0009 a0001c0001t0019g0019 a0001c0001t0032g0003 a0001c0001t0033g0004 a0001c0001t0034g0005 a0001c0001t0036g0006 a0001c0001t0049g0050 a0001c0001t0070g0172 a0001c0001t0071g0206 a0001c0001t0072g0168 a0001c0001t0077g0167 a0001c0001t0078g0132 a0001c0001t0079g0153 a0001c0001t0081g0151 a0001c0001t0089g0271 a0001c0001t0091g0273 a0001c0002t0004g0217 a0001c0002t0005g0257 a0001c0002t0006g0119 a0001c0002t0007g0137 a0001c0002t0007g0146 a0001c0002t0007g0186 a0001c0002t0010g0067 a0001c0002t0010g0068 a0001c0002t0010g0069 a0001c0002t0021g0027 a0001c0002t0021g0028 a0001c0002t0083g0215 a0001c0004t0015g0180	71	247	0.2874	-50	c.605 others(67): Show c.605-6411_605-6362delTCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAXBP1_chr21_32728899_32776755	32771859	TGAGAGAG others(43): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG03710.hp2 HG01256.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0005 a0001c0001t0001g0063	2	338	0.0059	-50	c.-24 others(59): Show c.-241_-192delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		105		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771899	AGAGAGAG others(43): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02148.hp2 HG02257.hp1 others(5): Show HG01952.hp1 HG02148.hp2 HG02257.hp1 HG02615.hp1 HG03471.hp2 NA18968.hp1 NA18991.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0143	8	358	0.0223	-50	c.-28 others(59): Show c.-281_-232delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		145		chr21	TogoVar
PBDC1_chrX_76168062_76183314	76178074	CCCTTGTA others(43): Show CCCTTGTATGAACTGGTCTAAAGACTGTTAGTGGGGTGTTAGTTGATTTT T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	291	0.0034	-50	c.17 others(59): Show c.170_*219delTGTATGAACTGGTCTAAAGACTGTTAGTGGGGTGTT AGTTGATTTTTCCT	PBDC1	ENSG00000102390.11	transcript	ENST00000373358.8	protein_coding	6/6	170	INFO_REALIGN_3_PRIME	chrX	TogoVar
PBX3_chr9_125742373_125972377	125780716	ACGGGGGG others(43): Show ACGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03710.hp1 HG03927.hp1 HG00099.hp2 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0171 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0002g0171 a0001c0001t0003g0170 a0001c0001t0003g0172	3	292	0.0103	-50	c.274 others(69): Show c.274+32112_274+32161delCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45814442	GGTGAGTG others(43): Show GGTGAGTGGTGAGTGGTGAGTGATGAGTGGTGAGTGAGTGATGAGTGGTG A	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(183): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0025 a0001c0003t0020 a0001c0004t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 others(182): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0003g0231 a0001c0001t0003g0262 a0001c0001t0004g0017 a0001c0001t0004g0022 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0005g0001 a0001c0001t0005g0272 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0285 a0001c0001t0005g0291 a0001c0001t0007g0235 a0001c0001t0007g0239 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0259 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0114 a0001c0001t0009g0103 a0001c0001t0011g0280 a0001c0001t0011g0281 a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0015g0021 a0001c0001t0016g0011 a0001c0001t0017g0098 a0001c0001t0018g0265 a0001c0001t0019g0225 a0001c0001t0021g0071 a0001c0001t0022g0216 a0001c0001t0023g0112 a0001c0001t0024g0237 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0006g0010 a0001c0002t0006g0033 a0001c0002t0006g0077 a0001c0002t0006g0086 a0001c0002t0006g0104 a0001c0002t0009g0217 a0001c0002t0009g0284 a0001c0002t0025g0015 a0001c0003t0020g0223 a0001c0004t0002g0087 a0001c0004t0002g0088	186	290	0.6414	-50	c.-12 others(71): Show c.-125-35454_-125-35405delGTGAGTGATGAGTGGTGAGTGAGT GATGAGTGGTGAGTGAGTGGTGAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45861400	TGCCCCAG others(43): Show TGCCCCAGCCAGCTGGGGCAACAGCCTGGGCCCTTGCCAGCCTGGGTGCC A	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0104 a0001c0002t0006g0104	1	290	0.0034	-50	c.10+ others(67): Show c.10+11312_10+11361delGCCAGCTGGGGCAACAGCCTGGGCCCTT GCCAGCCTGGGTGCCAGCCCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54307054	ATATATAT others(43): Show ATATATATATATATATATATATATATACATATATATATATGTGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	100	0.0100	-50	c.876 others(69): Show c.876+10167_876+10216delCACACACACACATATATATATATGTA TATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307054	ATATATAT others(43): Show ATATATATATATATATATATATATATACATATATATATATGTGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0001 a0028c0038t0001	a0028c0038t0001g0093 a0028c0038t0001g0093	1	92	0.0109	-50	c.876 others(69): Show c.876+10167_876+10216delCACACACACACATATATATATATGTA TATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCGF3_chr4_700832_775089	731848	TCCCCTCC others(43): Show TCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT C	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18984.hp2 NA18999.hp2 NA18945.hp2 NA18984.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0304 a0001c0001t0007g0006 a0001c0001t0007g0304	3	355	0.0085	-50	c.-10 others(65): Show c.-10+842_-10+891delCTCCCCTCGTGGGTGGGCGTGGTCCTCAGG GGCGTAGGGCGGGGCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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