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
PIK3C2A_chr11_17081575_17212986	17181615	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATACACA C	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	339	0.0029	-50	c.-65 others(69): Show c.-65-11859_-65-11810delGTGTGTATATATATATATATATATAT ATATATATATATATATATATATAT	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(43): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02602.hp1 HG01070.hp1 HG01071.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0023 a0001c0001t0001g0181 a0001c0001t0001g0197	3	74	0.0405	-50	c.-84 others(67): Show c.-84-1222_-84-1173delCATGTGAGAATACCAATGAAGCCATCAT GTGAGAATACCAGTGAAGCCAT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2G_chr12_18256518_18653416	18650700	GTGTGTAT others(43): Show GTGTGTATATATCTATATATATATATATATATATATATATATATATATAT A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG01433.hp1 others(12): Show HG00544.hp2 HG01069.hp1 HG01433.hp1 HG01517.hp1 HG02486.hp2 HG02630.hp2 HG02738.hp2 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03540.hp1 NA18984.hp2 NA19043.hp1 NA19084.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0031 a0002c0005 others(8): Show a0001c0001 a0001c0031 a0002c0005 a0002c0018 a0003c0003 a0003c0020 a0003c0035 a0004c0006 a0004c0034 a0005c0011 a0006c0007	a0001c0001t0002 a0001c0031t0001 a0002c0005t0002 others(8): Show a0001c0001t0002 a0001c0031t0001 a0002c0005t0002 a0002c0018t0001 a0003c0003t0002 a0003c0020t0001 a0003c0035t0002 a0004c0006t0001 a0004c0034t0001 a0005c0011t0001 a0006c0007t0002	a0001c0001t0002g0063 a0001c0031t0001g0059 a0002c0005t0002g0009 others(12): Show a0001c0001t0002g0063 a0001c0031t0001g0059 a0002c0005t0002g0009 a0002c0005t0002g0050 a0002c0005t0002g0104 a0002c0018t0001g0108 a0003c0003t0002g0054 a0003c0020t0001g0051 a0003c0035t0002g0165 a0004c0006t0001g0144 a0004c0034t0001g0140 a0005c0011t0001g0042 a0005c0011t0001g0047 a0005c0011t0001g0048 a0006c0007t0002g0004	15	170	0.0882	-50	c.26 others(61): Show c.2673_*2722delTGTGTATATATCTATATATATATATATATATATA TATATATATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2285		chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18650702	GTGTATAT others(43): Show GTGTATATATCTATATATATATATATATATATATATATATATATATATAT A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02895.hp2 others(2): Show HG02109.hp2 HG02630.hp1 HG02895.hp2 HG02976.hp1 NA18906.hp2	a0004 a0005 a0008 a0004 a0005 a0008	a0004c0006 a0004c0015 a0005c0011 others(1): Show a0004c0006 a0004c0015 a0005c0011 a0008c0051	a0004c0006t0002 a0004c0015t0001 a0005c0011t0002 others(1): Show a0004c0006t0002 a0004c0015t0001 a0005c0011t0002 a0008c0051t0001	a0004c0006t0002g0013 a0004c0006t0002g0014 a0004c0015t0001g0150 others(2): Show a0004c0006t0002g0013 a0004c0006t0002g0014 a0004c0015t0001g0150 a0005c0011t0002g0044 a0008c0051t0001g0049	5	157	0.0318	-50	c.26 others(61): Show c.2675_*2724delTGTATATATCTATATATATATATATATATATATA TATATATATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2287		chr12	TogoVar
PIK3C3_chr18_41950234_42092830	42054126	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02965.hp1 others(4): Show HG02451.hp1 HG02922.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0034 a0001c0001t0014 a0001c0001t0033 a0001c0001t0034	a0001c0001t0014g0001 a0001c0001t0014g0007 a0001c0001t0014g0008 others(3): Show a0001c0001t0014g0001 a0001c0001t0014g0007 a0001c0001t0014g0008 a0001c0001t0014g0011 a0001c0001t0033g0009 a0001c0001t0034g0010	7	59	0.1186	-50	c.226 others(69): Show c.2264-3740_2264-3691delTATATATATATATATATATATATATA TATATATATATATATATATATATA	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3C3_chr18_41950234_42092830	42076097	TATATATA others(43): Show TATATATATATATATATATATATATGCGCATATATATATATATATATGCG C	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03516.hp1 NA18906.hp2 HG03041.hp1 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0045 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0045	3	338	0.0089	-50	c.265 others(69): Show c.2650-5011_2650-4962delATATATATATGCGCATATATATATAT ATATATGCGCATATATATATATAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIN4_chrX_72176757_72203340	72178796	CGTCCGGG others(43): Show CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	305	0.0033	-50	c.-29 others(61): Show c.-2989_-2940delGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCA	PIN4	ENSG00000102309.15	transcript	ENST00000373669.8	protein_coding		2960		chrX	TogoVar
PIP4K2A_chr10_22529854_22719578	22664102	TACATATA others(43): Show TACATATATATATACATATATATATATACATATATATATACATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0066 a0001c0005t0005g0066	1	203	0.0049	-50	c.144 others(69): Show c.144+50031_144+50080delGTATATATATGTATATATATATGTAT ATATATATATGTATATATATATGT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP5K1C_chr19_3625183_3705468	3643703	GCTTGGCC others(43): Show GCTTGGCCACACGGGCTCCTTGCTGTTCCCTCAGCAGGTGTGGTCCTGCC C	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	330	0.0030	-50	c.151 others(67): Show c.1510+334_1511-323delGGGCAGGACCACACCTGCTGAGGGAACA GCAAGGAGCCCGTGTGGCCAAG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	12/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649038	GGGGAGTT others(43): Show GGGGAGTTAATTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCG C	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	328	0.0030	-50	c.112 others(67): Show c.1128-380_1128-331delGCGCTGGGCAGGGGACGTGTGGGCATGG TGCCGGGTGACAATTAACTCCC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649048	TTGTCACC others(43): Show TTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(20): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG01071.hp1 HG01123.hp1 HG01261.hp1 HG02273.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp2 NA18952.hp2 NA18960.hp2 NA18994.hp2 NA20905.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0002 a0001c0026 a0004c0014 others(1): Show a0001c0002 a0001c0026 a0004c0014 a0009c0016	a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 others(6): Show a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 a0001c0002t0025 a0001c0002t0041 a0001c0002t0043 a0001c0026t0005 a0004c0014t0005 a0009c0016t0005	a0001c0002t0005g0002 a0001c0002t0005g0027 a0001c0002t0005g0034 others(19): Show a0001c0002t0005g0002 a0001c0002t0005g0027 a0001c0002t0005g0034 a0001c0002t0005g0078 a0001c0002t0005g0081 a0001c0002t0005g0093 a0001c0002t0005g0099 a0001c0002t0005g0144 a0001c0002t0005g0222 a0001c0002t0011g0033 a0001c0002t0011g0096 a0001c0002t0011g0107 a0001c0002t0014g0028 a0001c0002t0014g0076 a0001c0002t0014g0077 a0001c0002t0025g0217 a0001c0002t0025g0234 a0001c0002t0041g0275 a0001c0002t0043g0128 a0001c0026t0005g0324 a0004c0014t0005g0193 a0009c0016t0005g0094	23	189	0.1217	-50	c.112 others(67): Show c.1128-390_1128-341delGTTAACTCCCGCGCTGGGCAGGGGACGT GTGGGCATGGTGCCGGGTGACA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649463	GTGCCCAC others(43): Show GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01433.hp2 HG02523.hp2 others(15): Show HG00323.hp2 HG01433.hp2 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp2 HG03098.hp2 HG03704.hp1 HG04199.hp2 NA18951.hp2 NA18960.hp2 NA18961.hp1 NA18989.hp1 NA18998.hp1 NA19009.hp2 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0020 a0001c0002t0041	a0001c0001t0002g0026 a0001c0001t0005g0061 a0001c0001t0005g0062 others(15): Show a0001c0001t0002g0026 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0231 a0001c0001t0013g0320 a0001c0002t0003g0162 a0001c0002t0005g0071 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0185 a0001c0002t0005g0189 a0001c0002t0005g0269 a0001c0002t0005g0272 a0001c0002t0005g0274 a0001c0002t0006g0150 a0001c0002t0020g0252 a0001c0002t0041g0275	18	312	0.0577	-50	c.112 others(67): Show c.1128-805_1128-756delTGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649513	ATGCCCAC others(43): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0095 a0001c0002t0011g0095	1	48	0.0208	-50	c.112 others(67): Show c.1128-854_1128-805delGGTGCCGGGTGACAGTTAACTCCCGCGC TGGGCAGGGGACGTGTGGGCAT	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6560588	TTCCTTCT others(43): Show TTCCTTCTCCTTCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCGTAGTCCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0019 a0001c0002t0057g0019	1	212	0.0047	-50	c.-42 others(61): Show c.-4232_-4183delGAGGACTACGAGGAAGAGGAGAAGGAGGAGGAAG AGGAGAAGGAGAAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4034		chr17	TogoVar
PJA2_chr5_109329722_109414974	109342098	TGGGGATG others(43): Show TGGGGATGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0088 a0003c0003t0002g0088	1	343	0.0029	-50	c.200 others(69): Show c.2001+2042_2001+2091delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKD1_chr16_2083708_2140898	2091243	GCTGCCGG others(43): Show GCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGC C	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02735.hp2 NA20752.hp1 HG01346.hp2 HG02735.hp2 NA20752.hp1	a0003 a0015 a0003 a0015	a0003c0042 a0015c0106 a0015c0120 a0003c0042 a0015c0106 a0015c0120	a0003c0042t0011 a0015c0106t0011 a0015c0120t0013 a0003c0042t0011 a0015c0106t0011 a0015c0120t0013	a0003c0042t0011g0203 a0015c0106t0011g0205 a0015c0120t0013g0202 a0003c0042t0011g0203 a0015c0106t0011g0205 a0015c0120t0013g0202	3	214	0.0140	-50	c.117 others(68): Show c.11713-119_11713-70delGGCCCCGCCCCGGCAGCGTCCCGCCCC CTCGTAGGGCCCCGCCCCGGCAG	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314989	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAA G	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	287	0.0035	-50	c.349 others(69): Show c.349+14172_349+14221delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP2_chr12_32785755_32901777	32803983	ACAGTTAA others(43): Show ACAGTTAAAAATATGATATGCCATTAATACAGTTAAAAAAAATAATGTGT T	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0003 a0002c0019t0003	a0002c0019t0003g0215 a0002c0019t0003g0215	1	340	0.0029	-50	c.201 others(69): Show c.2014-1477_2014-1428delAACACATTATTTTTTTTAACTGTATT AATGGCATATCATATTTTTAACTG	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	9/12			chr12	TogoVar
PKP2_chr12_32785755_32901777	32858085	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATTTATATATATTTTATATT T	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02965.hp2 HG03098.hp2 others(1): Show HG00741.hp2 HG02965.hp2 HG03098.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0015 a0002c0002t0002 a0002c0002t0005 a0002c0002t0015	a0002c0002t0002g0237 a0002c0002t0005g0234 a0002c0002t0005g0318 others(1): Show a0002c0002t0002g0237 a0002c0002t0005g0234 a0002c0002t0005g0318 a0002c0002t0015g0236	4	251	0.0159	-50	c.117 others(69): Show c.1171-7162_1171-7113delAAATATAAAATATATATAAATATATA TATATATATATATATATATATATA	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PLCB1_chr20_8127266_8889900	8821486	AAAAAAAA others(43): Show AAAAAAAAAAAATATGTATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03041.hp1 others(1): Show HG02615.hp2 HG02622.hp2 HG03041.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0025 a0001c0002 a0001c0006 a0002c0025	a0001c0002t0001 a0001c0002t0003 a0001c0006t0002 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0006t0002 a0002c0025t0001	a0001c0002t0001g0031 a0001c0002t0003g0079 a0001c0006t0002g0055 others(1): Show a0001c0002t0001g0031 a0001c0002t0003g0079 a0001c0006t0002g0055 a0002c0025t0001g0044	4	106	0.0377	-50	c.342 others(71): Show c.3423+31227_3423+31276delAAAAAAAAAATATGTATATATATA TATATATATATATATATATATATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCH1_chr3_155474881_155750071	155566300	CACATATA others(43): Show CACATATATATACATATATACATATATATACGTATATATACACATATATA T	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0028 a0001c0002t0001g0029	2	262	0.0076	-50	c.866 others(67): Show c.866-1232_866-1183delATATATATGTGTATATATACGTATATAT ATGTATATATGTATATATATGT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	7/22			chr3	TogoVar
PLCXD3_chr5_41301952_41515601	41471803	TTCCCCTC others(43): Show TTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC C	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	240	0.0042	-50	c.103 others(69): Show c.103+38571_103+38620delGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGACGGGAGGGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41471848	CTCCCCTC others(43): Show CTCCCCTCCCTTCCCTTCCCTTCCCTTCCCCTCCCTTCCCCTCCCCTCCC T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0239 a0001c0001t0024g0239	1	225	0.0044	-50	c.103 others(69): Show c.103+38526_103+38575delAGGGAGGGGAGGGGAAGGGAGGGGAA GGGAAGGGAAGGGAAGGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLD1_chr3_171595404_171815483	171764874	AGAAAGAA others(43): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0088 a0001c0005t0010g0088	1	283	0.0035	-50	c.-31 others(69): Show c.-31-26842_-31-26793delCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTTCTTTC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764899	GGAAGGAA others(43): Show GGAAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAA A	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0289 a0002c0003t0003g0289	1	283	0.0035	-50	c.-31 others(69): Show c.-31-26867_-31-26818delTTTCTTTCTTTCTTTCCTTTCTTTCC TTTCTTTCTTTCCTTCCTTCCTTC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLEKHH2_chr2_43632260_43772987	43677904	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGAC G	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0197 a0001c0003t0001g0197	1	254	0.0039	-50	c.124 others(65): Show c.124-955_124-906delGCGGCTGGCCGGGCGGGGGGCTGATCCCCC CACCTCCCTCCCAGACGGGG	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5441985	CACACGTA others(43): Show CACACGTATATACATGTGTGTATATACATGTGTGTATATACACACGTATA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03831.hp1 HG02602.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0002 a0001c0001t0001g0030	2	412	0.0049	-50	c.-43 others(61): Show c.-4379_-4330delATATACGTGTGTATATACACACATGTATATACAC ACATGTATATACGTGT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding		4061		chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5442003	TGTATATA others(43): Show TGTATATACATGTGTGTATATACACACGTATATACGTGTGTATATACACA C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18972.hp2 NA18970.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0284 a0001c0001t0001g0166 a0001c0001t0001g0284	2	345	0.0058	-50	c.-43 others(61): Show c.-4397_-4348delGTGTGTATATACACACGTATATACGTGTGTATAT ACACACATGTATATAC	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding		4079		chr9	TogoVar
PLPPR3_chr19_807488_826955	816572	CCCAGCCA others(43): Show CCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACCCATTCATCA T	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	396	0.0051	-50	c.76- others(63): Show c.76-771_76-722delATGATGAATGGGTGGATGATGGATGGATGGAT AGATGAATGAATGGCTGG	PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	2/7			chr19	TogoVar
PLSCR4_chr3_146187335_146256105	146224821	TACAAAGG others(43): Show TACAAAGGTTCTCCACGTCCCCATCAGATTAGTTAGATACAGAGTATGGA C	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(75): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02135.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18982.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19063.hp2 NA19065.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0008 a0003c0003 a0002c0002 a0002c0008 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0015 a0002c0002t0029 a0002c0002t0031 a0002c0008t0002 a0003c0003t0001	a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0040 others(56): Show a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0127 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0245 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0259 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0281 a0002c0002t0001g0284 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0039 a0002c0002t0002g0129 a0002c0002t0002g0242 a0002c0002t0002g0253 a0002c0002t0002g0256 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0269 a0002c0002t0002g0280 a0002c0002t0002g0282 a0002c0002t0002g0287 a0002c0002t0002g0291 a0002c0002t0003g0271 a0002c0002t0003g0289 a0002c0002t0004g0002 a0002c0002t0004g0037 a0002c0002t0004g0041 a0002c0002t0004g0246 a0002c0002t0004g0247 a0002c0002t0004g0251 a0002c0002t0004g0257 a0002c0002t0004g0283 a0002c0002t0005g0043 a0002c0002t0005g0044 a0002c0002t0005g0243 a0002c0002t0005g0244 a0002c0002t0005g0286 a0002c0002t0006g0288 a0002c0002t0007g0285 a0002c0002t0007g0290 a0002c0002t0008g0042 a0002c0002t0008g0045 a0002c0002t0008g0270 a0002c0002t0008g0275 a0002c0002t0008g0279 a0002c0002t0015g0258 a0002c0002t0029g0272 a0002c0002t0031g0268 a0002c0008t0002g0260 a0003c0003t0001g0293 a0003c0003t0001g0294	78	378	0.2063	-50	c.-21 others(67): Show c.-21-2779_-21-2730delGTCCATACTCTGTATCTAACTAATCTGA TGGGGACGTGGAGAACCTTTGT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding	1/8			chr3	TogoVar
PLXDC2_chr10_19811432_20294856	20126615	CACACACG others(43): Show CACACACGTTATATATGTATATATAACACACACGTTATATATGTATATAT A	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02630.hp1 others(1): Show HG00642.hp1 HG01884.hp1 HG02630.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0061 others(1): Show a0001c0001t0004 a0001c0001t0027 a0001c0001t0061 a0001c0001t0130	a0001c0001t0004g0107 a0001c0001t0027g0156 a0001c0001t0061g0030 others(1): Show a0001c0001t0004g0107 a0001c0001t0027g0156 a0001c0001t0061g0030 a0001c0001t0130g0154	4	178	0.0225	-50	c.542 others(69): Show c.542-16649_542-16600delACGTTATATATGTATATATAACACAC GTTATATATGTATATATAACACAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
POFUT2_chr21_45258935_45292895	45268871	GCACCCCG others(43): Show GCACCCCGGGCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG C	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	434	0.0023	-50	c.101 others(67): Show c.1012+918_1012+967delGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGCCCGGGGTG	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	7/8			chr21	TogoVar
POLG_chr15_89311320_89339824	89325061	TGAGTGAG others(43): Show TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAG A	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	388	0.0026	-50	c.194 others(67): Show c.1949+339_1949+388delTCTCTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325093	TGAGTGAG others(43): Show TGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG A	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0056 a0001c0011t0001g0056	1	392	0.0026	-50	c.194 others(67): Show c.1949+307_1949+356delTCTCACTCACTCTCTCACTCACTCACTC ACTCTCTCTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLR3F_chr20_18462390_18489646	18486123	TATAAATA others(43): Show TATAAATATATATAAAAATATATATGTAAATATAAATATATATATATGTA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03490.hp2 HG03471.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0109 a0001c0002t0009g0042 a0001c0001t0001g0109 a0001c0002t0009g0042	2	450	0.0044	-50	c.25 others(61): Show c.2566_*2615delATAAATATATATAAAAATATATATGTAAATATAA ATATATATATATGTAA	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1478		chr20	TogoVar
POR_chr7_75910155_75991855	75988695	GGGTGGAG others(43): Show GGGTGGAGGGGTGGAGGGGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18980.hp2 HG02040.hp1 NA18980.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0171 a0002c0001t0002g0174 a0002c0001t0002g0171 a0002c0001t0002g0174	2	274	0.0073	-50	c.22 others(61): Show c.2215_*2264delGGTGGAGGGGTGGAGGGGAAGGCCGGGTGGGGGG CTGGAGGGGAAGGCCA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1841		chr7	TogoVar
POR_chr7_75910155_75991855	75988740	AGGCCAGG others(43): Show AGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGGGTGGGGGGCTGGAGG G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02300.hp2 NA18977.hp1 others(1): Show HG02273.hp2 HG02300.hp2 NA18977.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 others(1): Show a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0217	4	276	0.0145	-50	c.22 others(61): Show c.2260_*2309delGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGG GTGGGGGGCTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1886		chr7	TogoVar
POR_chr7_75910155_75991855	75988855	GGTGTGGA others(43): Show GGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGG T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00621.hp1 others(50): Show HG00323.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp1 HG03017.hp2 HG03041.hp1 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp2 NA19060.hp1 NA19070.hp2 NA19079.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0024 a0001c0025	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0001c0024t0001 a0001c0025t0001	a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0035 others(50): Show a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0035 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0074 a0001c0002t0001g0090 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0139 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0213 a0001c0002t0001g0246 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0005t0001g0081 a0001c0005t0001g0254 a0001c0005t0001g0256 a0001c0005t0001g0266 a0001c0005t0001g0267 a0001c0009t0001g0002 a0001c0009t0001g0003 a0001c0009t0001g0004 a0001c0009t0001g0005 a0001c0024t0001g0234 a0001c0025t0001g0010	53	247	0.2146	-50	c.23 others(61): Show c.2375_*2424delGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGG GGAAGGCCGGGTGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2001		chr7	TogoVar
POTEF_chr2_130068535_130134222	130120968	ATGCGCGT others(43): Show ATGCGCGTGCAAGCCATTACAGGCCAGCCAAGCCGTTACGCGCGTGCGGC G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp1 HG02809.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp2	a0003 a0006 a0016 a0003 a0006 a0016	a0003c0004 a0006c0008 a0016c0019 a0003c0004 a0006c0008 a0016c0019	a0003c0004t0003 a0006c0008t0003 a0016c0019t0003 a0003c0004t0003 a0006c0008t0003 a0016c0019t0003	a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0083 a0006c0008t0003g0001 a0016c0019t0003g0084	12	164	0.0732	-50	c.-93 others(65): Show c.-93-410_-93-361delCGCCGCACGCGCGTAACGGCTTGGCTGGCC TGTAATGGCTTGCACGCGCA	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	2/16			chr2	TogoVar
POTEJ_chr2_130606440_130663037	130613265	CATATATA others(43): Show CATATATATACATATGTATATATACATATATATACATATGTATATATACA T	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02896.hp2 HG01884.hp2 HG02559.hp2 HG02896.hp2	a0006 a0006	a0006c0008 a0006c0033 a0006c0008 a0006c0033	a0006c0008t0001 a0006c0033t0001 a0006c0008t0001 a0006c0033t0001	a0006c0008t0001g0012 a0006c0008t0001g0013 a0006c0033t0001g0016 a0006c0008t0001g0012 a0006c0008t0001g0013 a0006c0033t0001g0016	3	127	0.0236	-50	c.410 others(67): Show c.410+1331_410+1380delTACATATGTATATATACATATATATACA TATGTATATATACATATATATA	POTEJ	ENSG00000222038.4	transcript	ENST00000409602.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
POU6F2_chr7_38972909_39473601	39454655	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG02559.hp2 others(5): Show HG01109.hp1 HG01261.hp1 HG02559.hp2 HG02809.hp2 HG03041.hp1 HG03453.hp2 NA18983.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0066 others(5): Show a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0161	8	14	0.5714	-50	c.148 others(69): Show c.1489+2978_1489+3027delTATATATATATATATATATATATATA TATATATATATATATATATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA1_chr10_70197835_70238429	70220739	TTATATAT others(43): Show TTATATATATATAATATATATAATTTATATATATATAATATATATAATTT A	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20129.hp1 HG00639.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0228 a0001c0001t0003g0222 a0001c0001t0003g0228	2	324	0.0062	-50	c.124 others(67): Show c.124-1972_124-1923delTAAATTATATATATTATATATATATAAA TTATATATATTATATATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70220925	TTATATAT others(43): Show TTATATATACTATATATATAATTTATATATAATATATATAATTTTTATAT A	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	294	0.0034	-50	c.124 others(67): Show c.124-2158_124-2109delTATATAAAAATTATATATATTATATATA AATTATATATATAGTATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPIAL4A_chr1_120884771_120895530	120889436	AAAAAAAG others(43): Show AAAAAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	273	0.0037	-50	c.-38 others(59): Show c.-384_-335delAAAAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	PPIAL4A	ENSG00000263353.4	transcript	ENST00000577856.3	protein_coding		334		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706464	CCACACAC others(43): Show CCACACACACACACACACACACACACACACACACACACACACACACACAC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	346	0.0029	-50	c.36 others(61): Show c.3649_*3698delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3533		chr1	TogoVar
PPP1R14C_chr6_150138044_150255392	150165251	GTAAATAT others(43): Show GTAAATATTCAATAAATATCAGCTGGTTGGTGGACAGGTCTGAACTTGCC T	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	310	0.0032	-50	c.306 others(69): Show c.306+21755_306+21804delAAATATTCAATAAATATCAGCTGGTT GGTGGACAGGTCTGAACTTGCCTT	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R8_chr1_27825782_27856676	27853193	ATGGGGGG others(43): Show ATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAG G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(42): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0096 a0001c0004t0001g0014	45	338	0.1331	-50	c.27 others(61): Show c.2748_*2797delTGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGGAGG	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		1518		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853388	TGCCCGGC others(43): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	338	0.0030	-50	c.29 others(61): Show c.2943_*2992delGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCC	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		1713		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27854315	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCACCCAGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA18966.hp2 HG02451.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0084 a0001c0001t0008g0093 a0001c0001t0001g0084 a0001c0001t0008g0093	2	334	0.0060	-50	c.38 others(61): Show c.3870_*3919delGGGGGGGTCAGCCCCCCACCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTG	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2640		chr1	TogoVar
PPP2R2C_chr4_6315581_6477614	6353867	GCCCCCCC others(43): Show GCCCCCCCACACCGACAGCCCCCAACACCGACAGCCCCCAACACCGACAG C	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	296	0.0034	-50	c.626 others(67): Show c.626-5907_626-5858delGCTGTCGGTGTTGGGGGCTGTCGGTGTT GGGGGCTGTCGGTGTGGGGGGG	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar

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