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 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLGRKT_chr9_5352971_5442925	5442011	CATGTGTG others(45): Show CATGTGTGTATATACACACGTATATACGTGTGTATATACACACGTATATA CAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	414	0.0024	-52	c.-44 others(63): Show c.-4407_-4356delATGTATATACGTGTGTATATACACACGTATATAC GTGTGTATATACACACAT		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding					4087		chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5442037	CGTGTGTA others(45): Show CGTGTGTATATACACACGTATATACATGTGTGTATATACACACGTATATA CAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	414	0.0024	-52	c.-44 others(63): Show c.-4433_-4382delATGTATATACGTGTGTATATACACACATGTATAT ACGTGTGTATATACACAC		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding					4113		chr9	TogoVar
PLXDC2_chr10_19811432_20294856	19943676	CCTAAAGA others(45): Show CCTAAAGAAATACTTCAAGTAGGAACAGTCTCTAAAGAAGTAGGAACAGC CTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0124 a0001c0001t0047g0124	1	180	0.0056	-52	c.113 others(71): Show c.113-58067_113-58016delTAAAGAAGTAGGAACAGCCTTCTAAA GAAATACTTCAAGTAGGAACAGTCTC		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20014379	CTTGCTTC others(45): Show CTTGCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0115 a0003c0003t0009g0115	1	180	0.0056	-52	c.324 others(71): Show c.324+12396_324+12447delGCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCTTT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNC1_chr12_94143577_94312675	94177200	CGTATATA others(45): Show CGTATATATATATGTGTGTGTATATATATACATATATATATATATATATA TAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03239.hp2 HG02602.hp1 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0269 a0001c0005t0002g0268 a0001c0002t0001g0269 a0001c0005t0002g0268	2	298	0.0067	-52	c.120 others(71): Show c.1204-4232_1204-4181delTGTGTGTATATATATACATATATATA TATATATATATATGTATATATATATG		PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR3G_chr5_90469864_90519557	90516606	AAATTCAT others(45): Show AAATTCATTTCTTTCCTAAACAGATTAGAACCATAATTCAATATGTAACC TTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0140 a0001c0001t0034g0140	1	366	0.0027	-52	c.44 others(63): Show c.4468_*4519delAATTCATTTCTTTCCTAAACAGATTAGAACCATA ATTCAATATGTAACCTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding					2050		chr5	TogoVar
POM121_chr7_72920095_72953299	72947873	GAGTGGTG others(45): Show GAGTGGTGGCGGGGCTGCTCCTTCCCACCCCTCAGAACAGCTCTGATCCT CGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG03453.hp2 HG01243.hp2 HG02809.hp1 HG03453.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0023 a0009c0023t0051 a0009c0023t0023 a0009c0023t0051	a0009c0023t0023g0015 a0009c0023t0051g0015 a0009c0023t0023g0015 a0009c0023t0051g0015	3	424	0.0071	-52	c.16 others(63): Show c.1640_*1691delAGTGGTGGCGGGGCTGCTCCTTCCCACCCCTCAG AACAGCTCTGATCCTCGT		POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding	13/13				1640		chr7	TogoVar
POR_chr7_75910155_75991855	75988749	GGGGGGCT others(45): Show GGGGGGCTGGAGGGGAAGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCG GGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0252 a0001c0004t0001g0252	1	278	0.0036	-52	c.22 others(63): Show c.2269_*2320delGGGGGCTGGAGGGGAAGAAGGCCGGGTGGGGGGC TGGAGGGGAAGGCCGGGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					1895		chr7	TogoVar
POTEH_chr22_15685026_15726631	15689260	TGCGCACG others(45): Show TGCGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCACGCCG CAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0003 a0003c0001t0002g0003	1	3	0.3333	-52	c.-81 others(61): Show c.-817_-766delGCGCACGCCGCACGCGCACGCCGCACGCGCACGCCG CACGCGCACGCCGCAC		POTEH	ENSG00000198062.16	transcript	ENST00000343518.11	protein_coding					765		chr22	TogoVar
POTEM_chr14_18962434_19008752	18969283	ACACATGT others(45): Show ACACATGTATATATATGTATATACGTATATATATGTATATATATATATAT ACG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0009 a0014c0019t0009	a0014c0019t0009g0003 a0014c0019t0009g0003	1	67	0.0149	-52	c.521 others(69): Show c.521+1278_521+1329delCACATGTATATATATGTATATACGTATA TATATGTATATATATATATATACG		POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10						chr14	TogoVar
POU2AF1_chr11_111347255_111384275	111352963	GAGGAAGG others(45): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA GGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0040 a0002c0004t0040	a0002c0004t0040g0280 a0002c0004t0040g0280	1	384	0.0026	-52	c.12 others(63): Show c.1246_*1297delTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCT		POU2AF1	ENSG00000110777.12	transcript	ENST00000393067.8	protein_coding	5/5				1246		chr11	TogoVar
PPM1J_chr1_112704998_112720332	112706462	CACCACAC others(45): Show CACCACACACACACACACACACACACACACACACACACACACACACACAC ACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01256.hp2 HG01258.hp2 others(2): Show HG01255.hp2 HG01256.hp2 HG01258.hp2 HG02148.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	422	0.0119	-52	c.36 others(63): Show c.3649_*3700delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGGT		PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding					3535		chr1	TogoVar
PPP1R16A_chr8_144472982_144507121	144488132	TTGCTTTG others(45): Show TTGCTTTGGGAGGGCAGGAGAGAAAAGGCAAGGGAAGCTCTTTCCAGGGG ATA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	356	0.0028	-52	c.-91 others(71): Show c.-913-1801_-913-1750delGATATGCTTTGGGAGGGCAGGAGAGA AAAGGCAAGGGAAGCTCTTTCCAGGG		PPP1R16A	ENSG00000160972.10	transcript	ENST00000435887.2	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP1R8_chr1_27825782_27856676	27854461	TGCCCGGC others(45): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGGTCAGCCCCC CCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	340	0.0029	-52	c.40 others(63): Show c.4016_*4067delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGGTCAGCCCCCCCC		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					2786		chr1	TogoVar
PPP2R5B_chr11_64919689_64939475	64933190	GATGAATG others(45): Show GATGAATGGGAAGCTGTTTGATGAGCTCACAGCCTCCTACAAGCTGGAAA AGC	G G	frameshift_variant frameshift_variant	HIGH	NA19065.hp1 NA19065.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0002 a0000c0005t0002	a0000c0005t0002g0047 a0000c0005t0002g0047	1	428	0.0023	-52	c.129 others(61): Show c.1292_1343delTGAATGGGAAGCTGTTTGATGAGCTCACAGCCTCCT ACAAGCTGGAAAAGCA	p.Met others(5): Show p.Met431fs	PPP2R5B	ENSG00000068971.14	transcript	ENST00000164133.7	protein_coding	13/14	1896/2729	1292/1494	431/497		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP2R5E_chr14_63366364_63548377	63430349	ACATACAT others(45): Show ACATACATACATACATACATACATGCATGCATACATACATACATACATAC ATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 NA18994.hp1 others(1): Show HG00408.hp1 HG02040.hp2 NA18994.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0003g0148 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0003g0148 a0001c0001t0003g0187	4	252	0.0159	-52	c.355 others(69): Show c.355-8307_355-8256delCATGTATGTATGTATGTATGTATGCATG CATGTATGTATGTATGTATGTATG		PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13						chr14	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(45): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01496.hp1 others(31): Show HG00140.hp2 HG01175.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp2 HG02132.hp1 HG02683.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18953.hp2 NA18964.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA19000.hp2 NA19001.hp2 NA19057.hp2 NA19068.hp1 NA19081.hp2 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0001t0001 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(31): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0003t0001g0283 a0001c0003t0001g0314 a0001c0003t0001g0317 a0001c0003t0001g0322 a0001c0003t0001g0330 a0001c0003t0001g0340 a0001c0006t0001g0321	34	394	0.0863	-52	c.135 others(69): Show c.1356-641_1356-590delCACACACACACACACACACACACACACA CACACACACACACACACACACACA		PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R1_chr19_55224779_55264017	55260762	TTTAATGA others(45): Show TTTAATGACTGAAGTCTGGATTTCCACCCAGCAGAACTCACAGATATACA TTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	378	0.0027	-52	c.-23 others(63): Show c.-2386_-2335delCAATGTATATCTGTGAGTTCTGCTGGGTGGAAAT CCAGACTTCAGTCATTAA		PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding					1746		chr19	TogoVar
PRAMEF7_chr1_12911610_12925751	12915512	TCTTTCTT others(45): Show TCTTTCTTTCTTTCTTTCTTTCTTTCATTTCCTTCCTTCCCTCCCTCCCT CCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0016 a0004c0007t0001g0016	1	254	0.0039	-52	c.-12 others(63): Show c.-1200_-1149delCTTTCTTTCTTTCTTTCTTTCTTTCATTTCCTTC CTTCCCTCCCTCCCTCCC		PRAMEF7	ENSG00000204510.6	transcript	ENST00000697200.1	protein_coding					1097		chr1	TogoVar
PRDM15_chr21_41793225_41884344	41806267	CCCATCAC others(45): Show CCCATCACCACCACCACCATCACCATCACCACCACCATCACCACCACCAC CAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0045 a0001c0049t0045	a0001c0049t0045g0234 a0001c0049t0045g0234	1	406	0.0025	-52	c.265 others(71): Show c.2653-1705_2653-1654delATGGTGGTGGTGGTGATGGTGGTGGT GATGGTGATGGTGGTGGTGGTGATGG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM16_chr1_3064203_3443621	3181828	ACACATTC others(45): Show ACACATTCAGTCTTACACACGGTCTTACACACGCAGTCTTACACACGGTC TTG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	210	0.0048	-52	c.38- others(67): Show c.38-4292_38-4241delTTCAGTCTTACACACGGTCTTACACACGCA GTCTTACACACGGTCTTGCACA		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3264385	GGAGGAAA others(45): Show GGAGGAAAGGGGAGAGGCATAGAGGAGCATCCGAGGACCCTAGGCCAGGA GGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02895.hp1 others(3): Show HG02622.hp2 HG02647.hp2 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 others(2): Show a0001c0001 a0001c0008 a0001c0013 a0001c0016 a0001c0025	a0001c0001t0001 a0001c0001t0023 a0001c0008t0085 others(3): Show a0001c0001t0001 a0001c0001t0023 a0001c0008t0085 a0001c0013t0001 a0001c0016t0020 a0001c0025t0044	a0001c0001t0001g0006 a0001c0001t0023g0072 a0001c0008t0085g0003 others(3): Show a0001c0001t0001g0006 a0001c0001t0023g0072 a0001c0008t0085g0003 a0001c0013t0001g0104 a0001c0016t0020g0108 a0001c0025t0044g0109	6	210	0.0286	-52	c.438 others(71): Show c.438+20318_438+20369delATAGAGGAGCATCCGAGGACCCTAGG CCAGGAGGAGAGGAAAGGGGAGAGGC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM6_chr5_123084241_123199266	123089102	TCTCTCTC others(45): Show TCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACAC ACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0228 a0001c0001t0014g0228	1	312	0.0032	-52	c.-43 others(61): Show c.-432_-381delCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACA CACACACACACACACA		PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding					138		chr5	TogoVar
PRKCB_chr16_23830983_24225611	23865483	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGT GTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp1 HG02717.hp1 others(1): Show HG01496.hp1 HG02615.hp1 HG02717.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0009 others(1): Show a0001c0005 a0001c0006 a0001c0009 a0001c0012	a0001c0005t0006 a0001c0006t0039 a0001c0009t0073 others(1): Show a0001c0005t0006 a0001c0006t0039 a0001c0009t0073 a0001c0012t0024	a0001c0005t0006g0028 a0001c0006t0039g0025 a0001c0009t0073g0031 others(1): Show a0001c0005t0006g0028 a0001c0006t0039g0025 a0001c0009t0073g0031 a0001c0012t0024g0022	4	148	0.0270	-52	c.205 others(71): Show c.205+28079_205+28130delATATATATATATATATATATATATAT ATATATATGTGTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865497	ATATATAT others(45): Show ATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0016 a0001c0003t0025g0016	1	148	0.0068	-52	c.205 others(71): Show c.205+28093_205+28144delATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKN_chr6_161342417_162732766	161350714	TATTTTTA others(45): Show TATTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATAT TTA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	32	0.0313	-52	c.128 others(69): Show c.1286-555_1286-504delTAAATATAAATATATAAAAATATATATA TTTTAAATATAAATATATAAAAAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161944030	AATCAGCC others(45): Show AATCAGCCTGAGGGACCAGCCTGAGGGATCAGCCTGAGGGATCAGCCTGA GGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	32	0.0313	-52	c.734 others(71): Show c.734+29220_734+29271delCCCTCAGGCTGATCCCTCAGGCTGAT CCCTCAGGCTGGTCCCTCAGGCTGAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRR36_chr19_7863719_7879390	7877937	TATATATA others(45): Show TATATATACATATATACATATATATACATATATACATATATACGTATATA CGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01123.hp2 others(4): Show HG00099.hp1 HG00140.hp2 HG01123.hp2 HG01515.hp1 HG01517.hp2 HG01975.hp1 HG02717.hp1	a0002 a0003 a0039 a0002 a0003 a0039	a0002c0002 a0003c0003 a0039c0048 a0002c0002 a0003c0003 a0039c0048	a0002c0002t0001 a0003c0003t0001 a0039c0048t0001 a0002c0002t0001 a0003c0003t0001 a0039c0048t0001	a0002c0002t0001g0004 a0003c0003t0001g0002 a0039c0048t0001g0046 a0002c0002t0001g0004 a0003c0003t0001g0002 a0039c0048t0001g0046	7	386	0.0181	-52	c.-37 others(63): Show c.-3711_-3660delGCGTATATACGTATATATGTATATATGTATATAT ATGTATATATGTATATAT		PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding					3548		chr19	TogoVar
PRSS33_chr16_2778953_2792560	2791399	ATCTCTGC others(45): Show ATCTCTGCCTGTTCAGCGGGAGCTGGGTCTCTGCCTGTTCAGCGGGAGCT GGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02895.hp1 HG02572.hp1 HG02622.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	386	0.0078	-52	c.-39 others(63): Show c.-3976_-3925delCCCAGCTCCCGCTGAACAGGCAGAGACCCAGCTC CCGCTGAACAGGCAGAGA		PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding					3840		chr16	TogoVar
PRSS58_chr7_142247143_142263058	142256306	GGATGTTA others(45): Show GGATGTTAAATGGTGATTAGTGCTATGGAAAAACACACAAGTAAACTATA TAT	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	405	0.0025	-52	c.41- others(65): Show c.41-685_41-634delATATATAGTTTACTTGTGTGTTTTTCCATAGC ACTAATCACCATTTAACATC		PRSS58	ENSG00000258223.6	transcript	ENST00000547058.6	protein_coding	2/5						chr7	TogoVar
PSAPL1_chr4_7425285_7439930	7430729	CTAGGCCC others(45): Show CTAGGCCCAGTAGGGCCAGCTGCTCTTCTCCTGGGCTGGTATCTCCTCTC CCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0000 a0001c0001t0034g0000	1	456	0.0022	-52	c.25 others(63): Show c.2533_*2584delTGGGAGAGGAGATACCAGCCCAGGAGAAGAGCAG CTGGCCCTACTGGGCCTA		PSAPL1	ENSG00000178597.7	transcript	ENST00000319098.7	protein_coding	1/1				2533		chr4	TogoVar
PSD3_chr8_18522303_19018703	18594195	CATATTAT others(45): Show CATATTATATAATATATATTATTATATATATTATATAATATATATTATTA TAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	228	0.0044	-52	c.248 others(71): Show c.2481+6117_2481+6168delATATAATAATATATATTATATAATAT ATATAATAATATATATTATATAATAT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18752528	AATTATAT others(45): Show AATTATATATTATATATATTATATATAATTATATATATTATATATATAAT TAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 NA19043.hp2 HG01884.hp2 HG02615.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0025 a0001c0001 a0001c0013 a0001c0025	a0001c0001t0021 a0001c0013t0001 a0001c0025t0023 a0001c0001t0021 a0001c0013t0001 a0001c0025t0023	a0001c0001t0021g0130 a0001c0013t0001g0121 a0001c0025t0023g0162 a0001c0001t0021g0130 a0001c0013t0001g0121 a0001c0025t0023g0162	3	228	0.0132	-52	c.217 others(73): Show c.2172+12869_2172+12920delATAATTATATATATAATATATATA ATTATATATAATATATATAATATATAAT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18865244	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT TTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0004c0009t0012 a0001c0001t0002 a0004c0009t0012	a0001c0001t0002g0166 a0004c0009t0012g0153 a0001c0001t0002g0166 a0004c0009t0012g0153	2	228	0.0088	-52	c.163 others(71): Show c.1634+2378_1634+2429delAAAAAAAAAATATATATATATATATA TATATATATATATATATATATATATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15						chr8	TogoVar
PSMD1_chr2_231051867_231177827	231165024	TTATATAT others(45): Show TTATATATATTTATATATATATATATATATATATATATATATATATATAT ATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01433.hp1 others(2): Show HG00280.hp2 HG01069.hp2 HG01433.hp1 HG01993.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 others(2): Show a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351	5	364	0.0137	-52	c.248 others(69): Show c.2482-166_2482-115delTTATATATATATATATATATATATATAT ATATATATATATATATATATATAT		PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTGER4_chr5_40674915_40698735	40697074	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAAGAAAGAGAAAAGAAAGAAAGGAAAGAAAAAAGAA AGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	406	0.0025	-52	c.46 others(63): Show c.4697_*4748delAAGGAAGGAAGGAAAGAAAGAGAAAAGAAAGAAA GGAAAGAAAAAAGAAAGA		PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding					3340		chr5	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(45): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA TAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0018 a0001c0001t0155g0018	1	354	0.0028	-52	c.68 others(61): Show c.689_*740delATATATATATATATATATATATAATATAATATATAT ATATATATATATATTT		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				689		chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(45): Show AATATATATATATATATATATATTATATTATATATATATATATATATATA TAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0225 a0001c0001t0149g0225	1	354	0.0028	-52	c.68 others(61): Show c.687_*738delATATATATATATATATATATATATAATATAATATAT ATATATATATATATAT		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				687		chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141395615	CAGGATAG others(45): Show CAGGATAGGTGCATGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTA CCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG03453.hp1 others(1): Show HG02572.hp1 HG02630.hp1 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0001t0001 a0001c0001t0007 a0001c0001t0018	a0001c0001t0001g0066 a0001c0001t0001g0289 a0001c0001t0007g0067 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0289 a0001c0001t0007g0067 a0001c0001t0018g0068	4	323	0.0124	-52	c.-85 others(71): Show c.-854+3532_-854+3583delAGGATAGGTGCATGGGCCACCCCTCC CTCCTGCAGCCCCCGTTCATCTACCT		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5						chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141395620	TAGGTGCA others(45): Show TAGGTGCATGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCTGG GGA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	323	0.0031	-52	c.-85 others(71): Show c.-854+3543_-854+3594delATGGGCCACCCCTCCCTCCTGCAGCC CCCGTTCATCTACCTGGGGAAGGTGC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141395627	ATGGGCCA others(45): Show ATGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCTGGGGAAGGT GCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp2 others(3): Show HG01884.hp1 HG02055.hp1 HG02109.hp2 HG03486.hp1 HG06807.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0039 a0001c0001t0001 a0001c0001t0006 a0001c0001t0039	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0193 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0193 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0039g0043	6	323	0.0186	-52	c.-85 others(71): Show c.-854+3583_-854+3634delTGGGGAAGGTGCGTGGGCCACCCCTC CCTCCTGCAGCCCCCGTTCATCTACC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141395672	AAGGTGCG others(45): Show AAGGTGCGTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCCGG GGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02451.hp2 others(16): Show HG01891.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0027	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 others(16): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0044 a0001c0001t0007g0022 a0001c0001t0007g0045 a0001c0001t0008g0020 a0001c0001t0008g0024 a0001c0001t0008g0026 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0012g0021 a0001c0001t0014g0033 a0001c0001t0023g0025 a0001c0001t0027g0027	19	323	0.0588	-52	c.-85 others(71): Show c.-854+3636_-854+3687delGGGGTAGGTGCGTGGGCCACCCCTCC CTCCTGCAGCCCCCGTTCATCTACCC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN2_chr18_12787152_12889237	12870284	CATATACA others(45): Show CATATACATATATATGTGTATATATACATATATATGTGTATATATATGTA TAT	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0241 a0001c0001t0016g0241	1	370	0.0027	-52	c.70- others(69): Show c.70-11082_70-11031delATATACATATATATACACATATATATGT ATATATACACATATATATGTATAT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8						chr18	TogoVar
PTPRD_chr9_8309246_10618002	8782058	CGTTTATG others(45): Show CGTTTATGGTATAAAACATACCATAATGTTTATGGTATAAAACATACCAT AAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01243.hp2 others(14): Show HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01981.hp1 HG02055.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG03139.hp2 HG03225.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0017 a0003c0008 a0004c0016	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(13): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0003t0023 a0001c0004t0003 a0001c0004t0018 a0001c0006t0026 a0001c0012t0016 a0001c0014t0025 a0001c0017t0002 a0003c0008t0008 a0004c0016t0020	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0013g0022 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0013g0022 a0001c0001t0014g0008 a0001c0001t0022g0012 a0001c0002t0001g0009 a0001c0002t0005g0025 a0001c0002t0009g0017 a0001c0003t0023g0031 a0001c0004t0003g0001 a0001c0004t0018g0015 a0001c0006t0026g0034 a0001c0012t0016g0028 a0001c0014t0025g0033 a0001c0017t0002g0005 a0003c0008t0008g0003 a0004c0016t0020g0011	17	34	0.5000	-52	c.-10 others(73): Show c.-103-48164_-103-48113delATTATGGTATGTTTTATACCATAA ACATTATGGTATGTTTTATACCATAAAC		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45						chr9	TogoVar
PTPRM_chr18_7562316_8411856	8289535	CACATATA others(45): Show CACATATATATATATACATATATATACACATATATATATATACATATATA TAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02258.hp2 others(6): Show HG01891.hp2 HG02109.hp1 HG02258.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0002 a0001c0005t0002 a0001c0005t0003 a0001c0021t0001	a0001c0001t0001g0058 a0001c0001t0002g0037 a0001c0003t0001g0018 others(6): Show a0001c0001t0001g0058 a0001c0001t0002g0037 a0001c0003t0001g0018 a0001c0003t0001g0040 a0001c0004t0002g0021 a0001c0005t0002g0024 a0001c0005t0002g0043 a0001c0005t0003g0076 a0001c0021t0001g0062	9	80	0.1125	-52	c.275 others(71): Show c.2755-6829_2755-6778delTATATATATATACATATATATACACA TATATATATATACATATATATATACA		PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15513083	AGAAAGAA others(45): Show AGAAAGAAAGAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG AAG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02683.hp2 HG02723.hp2 others(3): Show HG01981.hp1 HG02683.hp2 HG02723.hp2 HG03471.hp2 HG04184.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0003 a0001c0008t0004 a0001c0002t0001 a0001c0002t0003 a0001c0008t0004	a0001c0002t0001g0019 a0001c0002t0001g0137 a0001c0002t0001g0155 others(3): Show a0001c0002t0001g0019 a0001c0002t0001g0137 a0001c0002t0001g0155 a0001c0002t0003g0028 a0001c0002t0003g0133 a0001c0008t0004g0040	6	164	0.0366	-52	c.146 others(71): Show c.1465-2411_1465-2360delAGAAAGAAGAAAGAAAGAAAGAAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA		PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	42278268	CTTCTCTG others(45): Show CTTCTCTGTTAAGATATTTATCTATTAAGGAGACATATATAGTAGCCAAA GCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp1 HG01261.hp2 others(9): Show HG00438.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02965.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0002 a0001c0003 a0001c0008 others(6): Show a0001c0002 a0001c0003 a0001c0008 a0001c0022 a0002c0004 a0002c0015 a0003c0006 a0007c0010 a0008c0012	a0001c0002t0023 a0001c0003t0001 a0001c0003t0018 others(9): Show a0001c0002t0023 a0001c0003t0001 a0001c0003t0018 a0001c0003t0029 a0001c0008t0001 a0001c0022t0021 a0002c0004t0002 a0002c0004t0004 a0002c0015t0001 a0003c0006t0009 a0007c0010t0009 a0008c0012t0005	a0001c0002t0023g0044 a0001c0003t0001g0038 a0001c0003t0018g0046 others(9): Show a0001c0002t0023g0044 a0001c0003t0001g0038 a0001c0003t0018g0046 a0001c0003t0029g0048 a0001c0008t0001g0060 a0001c0022t0021g0045 a0002c0004t0002g0007 a0002c0004t0004g0026 a0002c0015t0001g0013 a0003c0006t0009g0051 a0007c0010t0009g0021 a0008c0012t0005g0017	12	62	0.1936	-52	c.217 others(71): Show c.2176+4169_2176+4220delTGCTTTGGCTACTATATATGTCTCCT TAATAGATAAATATCTTAACAGAGAA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	13/30						chr20	TogoVar
PUS1_chr12_131924276_131950896	131946143	AGTGGTGC others(45): Show AGTGGTGCGATCATAGTTCAGTACAGCCTCCACCTCCTGGGATCAAGCTA TCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	382	0.0026	-52	c.25 others(63): Show c.2558_*2609delGTGGTGCGATCATAGTTCAGTACAGCCTCCACCT CCTGGGATCAAGCTATCC		PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding					248		chr12	TogoVar
PWWP2A_chr5_160086339_160124450	160121682	CTGATTAC others(45): Show CTGATTACCTCTTGTAGTAATTCATTACAAGATGCTGCAATGAGTAATTT ACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	384	0.0026	-52	c.-23 others(63): Show c.-2346_-2295delTGTAAATTACTCATTGCAGCATCTTGTAATGAAT TACTACAAGAGGTAATCA		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding					2233		chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132403984	TGCTCCCG others(45): Show TGCTCCCGTAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCC AGG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 others(6): Show HG00738.hp2 HG01167.hp1 HG01169.hp2 HG01884.hp1 HG02109.hp1 HG02922.hp2 HG03195.hp1 HG03688.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0003c0008 a0001c0009 a0003c0008	a0001c0009t0001 a0001c0009t0006 a0003c0008t0001 a0001c0009t0001 a0001c0009t0006 a0003c0008t0001	a0001c0009t0001g0021 a0001c0009t0001g0074 a0001c0009t0001g0116 others(5): Show a0001c0009t0001g0021 a0001c0009t0001g0074 a0001c0009t0001g0116 a0001c0009t0006g0021 a0003c0008t0001g0027 a0003c0008t0001g0061 a0003c0008t0001g0088 a0003c0008t0001g0115	9	374	0.0241	-52	c.126 others(67): Show c.126-636_126-585delCGTAGGACGGCATTCTCCAGGGCTCCTGCA GGACGGCATTCTCCAGGGCTCC		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar

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