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
P2RY12_chr3_151331843_151389753	151368629	TATTTCAT others(68): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT CATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0327 a0001c0001t0001g0328	2	396	0.0051	-75	c.-18 others(96): Show c.-180+15988_-180+16062delGAAATGAAATGAAATAAAATGAAA TGACATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAA T	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PACS2_chr14_105309748_105403147	105349802	TGTGGCTA others(68): Show TGTGGCTAATAGCAGGACCCCAAGAACTTCCAGGAGTGCGTGGCTAATGC AGGACCCGGAGAACTTCCAGGAGAGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0024 a0002c0018t0024	a0002c0018t0024g0202 a0002c0018t0024g0202	1	210	0.0048	-75	c.207 others(92): Show c.207+1243_207+1317delAAGAACTTCCAGGAGTGCGTGGCTAATG CAGGACCCGGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PANX2_chr22_50165731_50185295	50168175	CTGGTTTA others(68): Show CTGGTTTATCTGGCAGTGACTGGGTTATCTGGGGTGAATAGGTTATGTGA GGGGTGCCCGGGTTATTTGGGGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA19066.hp1 NA19087.hp1 NA18961.hp1 NA19066.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0002 a0002c0006t0002 a0001c0003t0002 a0002c0006t0002	a0001c0003t0002g0030 a0002c0006t0002g0030 a0001c0003t0002g0030 a0002c0006t0002g0030	3	440	0.0068	-75	c.-25 others(86): Show c.-2555_-2481delTGGTTTATCTGGCAGTGACTGGGTTATCTGGGGT GAATAGGTTATGTGAGGGGTGCCCGGGTTATTTGGGGTGAT	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		2555		chr22	TogoVar
PANX2_chr22_50165731_50185295	50168822	ATTATGTG others(68): Show ATTATGTGAGGGGTGCCTGGGTTATTTGGGGTGATTGGTTTATCTGGCAG TGACTGGGTTATCTGGGGTGAATAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02735.hp1 HG02602.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	440	0.0046	-75	c.-19 others(86): Show c.-1908_-1834delTTATGTGAGGGGTGCCTGGGTTATTTGGGGTGAT TGGTTTATCTGGCAGTGACTGGGTTATCTGGGGTGAATAGG	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		1908		chr22	TogoVar
PAQR5_chr15_69293912_69412780	69300862	TTTCTTTC others(68): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTT CCTTTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	284	0.0035	-75	c.-27 others(94): Show c.-277+1808_-277+1882delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAXBP1_chr21_32728899_32776755	32771847	AAAGAGAG others(68): Show AAAGAGAGAGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	360	0.0028	-75	c.-25 others(84): Show c.-254_-180delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCTCTCTT	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		93		chr21	TogoVar
PCSK6_chr15_101298933_101494707	101311756	CGTCACCC others(68): Show CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0001 a0009c0041t0001	a0009c0041t0001g0085 a0009c0041t0001g0085	1	336	0.0030	-75	c.269 others(94): Show c.2699+1545_2699+1619delCATGGGGTGGGCTGTGAGGGGTGACG ATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDE1A_chr2_182135041_182432036	182385704	GCTCTCCC others(68): Show GCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02683.hp2 HG02738.hp1 others(6): Show HG02040.hp1 HG02683.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03654.hp1 NA18939.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0046	a0001c0001t0002g0044 a0001c0001t0002g0119 a0001c0001t0007g0058 others(6): Show a0001c0001t0002g0044 a0001c0001t0002g0119 a0001c0001t0007g0058 a0001c0001t0008g0036 a0001c0001t0010g0042 a0001c0001t0011g0037 a0001c0001t0012g0158 a0001c0001t0021g0142 a0001c0001t0046g0043	9	264	0.0341	-75	c.53+ others(92): Show c.53+40799_53+40873delGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE6B_chr4_620573_675782	668561	CCTACCCC others(68): Show CCTACCCCATGCTAGTACCACTACCCCATGCTATTCCCGCTACCCCATGC TATTCCCCTACCCCATGCTATTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02622.hp2 others(1): Show HG00642.hp2 HG01358.hp2 HG02622.hp2 HG02683.hp1	a0004 a0007 a0004 a0007	a0004c0007 a0007c0028 a0004c0007 a0007c0028	a0004c0007t0008 a0007c0028t0008 a0004c0007t0008 a0007c0028t0008	a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 others(1): Show a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 a0007c0028t0008g0256	4	308	0.0130	-75	c.250 others(92): Show c.2503+568_2503+642delAGTACCACTACCCCATGCTATTCCCGCT ACCCCATGCTATTCCCCTACCCCATGCTATTCCCGCTACCCCATGCT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668622	CCCATGCT others(68): Show CCCATGCTATTCCCGCTACCCCATGCTGCTCCCACTACCCCACGCTATTC CCCTACCCCATGCTATTCCCGCTATG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02622.hp1 HG01891.hp1 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0050 a0001c0009t0009g0263 a0001c0009t0009g0264 a0001c0009t0009g0050 a0001c0009t0009g0263 a0001c0009t0009g0264	3	308	0.0097	-75	c.250 others(92): Show c.2503+630_2503+704delGCTACCCCATGCTGCTCCCACTACCCCA CGCTATTCCCCTACCCCATGCTATTCCCGCTATGCCATGCTATTCCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PHF21B_chr22_44876162_45015005	44884136	ATCACCAC others(68): Show ATCACCACCACCACCATCACTGTGATCAGCACCATCACCACCATCATTAC CACCATCACCACCACGATCACCAACG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	300	0.0033	-75	c.137 others(92): Show c.1378-907_1378-833delCGTTGGTGATCGTGGTGGTGATGGTGGT AATGATGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGTGGTGA	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
PKD2L1_chr10_100283149_100335228	100314989	AGGAAGGA others(68): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0132 a0005c0006t0001g0132	1	306	0.0033	-75	c.349 others(94): Show c.349+14147_349+14221delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100315244	TACATAGG others(68): Show TACATAGGTATACATGTGCCACGGTGGTTTGCTGCACCTATCAACCCGTC ATCTAGGTTTTAAGCCCAGGTTTGTC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	306	0.0033	-75	c.349 others(94): Show c.349+13892_349+13966delGACAAACCTGGGCTTAAAACCTAGAT GACGGGTTGATAGGTGCAGCAAACCACCGTGGCACATGTATACCTATGT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLCB3_chr11_64246530_64272923	64270899	AGACACAC others(68): Show AGACACACACACACACACACACACACACACACACGCCTGGAGTGGGATCT AGACTACAGATCCCAGCATGCCCTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00639.hp2 others(20): Show HG00423.hp2 HG00609.hp1 HG00639.hp2 HG02040.hp1 HG02155.hp1 HG03017.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18965.hp1 NA18971.hp2 NA19002.hp2 NA19009.hp1 NA19056.hp1 NA19075.hp2 NA19081.hp1 NA19086.hp2 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0001 a0001c0003t0002 a0001c0017t0001 a0001c0003t0001 a0001c0003t0002 a0001c0017t0001	a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0018 others(6): Show a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0018 a0001c0003t0001g0032 a0001c0003t0001g0063 a0001c0003t0001g0101 a0001c0003t0001g0139 a0001c0003t0002g0002 a0001c0017t0001g0002	23	382	0.0602	-75	c.33 others(86): Show c.3344_*3418delGACACACACACACACACACACACACACACACACG CCTGGAGTGGGATCTAGACTACAGATCCCAGCATGCCCTGT	PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding		2977		chr11	TogoVar
PLCXD1_chrX_276381_308356	280493	GAGGGGGG others(68): Show GAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGG CCGTGCAGGGGGAAGGGGGGCCGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01346.hp1 others(12): Show HG00423.hp2 HG00544.hp2 HG01346.hp1 HG01346.hp2 HG02165.hp2 HG02280.hp1 HG03017.hp1 HG03486.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp1 NA18993.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(11): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0080 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0092 a0001c0003t0054 a0001c0003t0056 a0001c0003t0104 a0001c0014t0062	a0001c0001t0005g0096 a0001c0001t0010g0087 a0001c0001t0014g0083 others(12): Show a0001c0001t0005g0096 a0001c0001t0010g0087 a0001c0001t0014g0083 a0001c0001t0016g0082 a0001c0001t0016g0098 a0001c0001t0024g0101 a0001c0001t0080g0088 a0001c0001t0083g0085 a0001c0001t0084g0091 a0001c0001t0085g0090 a0001c0001t0092g0089 a0001c0003t0054g0094 a0001c0003t0056g0092 a0001c0003t0104g0093 a0001c0014t0062g0095	15	176	0.0852	-75	c.-12 others(86): Show c.-1212_-1138delAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTG CAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		887		chrX	TogoVar
PLCXD3_chr5_41301952_41515601	41471803	TTCCCCTC others(68): Show TTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCTTCCCTTCCCTTCCCTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0068 a0001c0001t0053 a0001c0001t0068	a0001c0001t0053g0186 a0001c0001t0068g0187 a0001c0001t0053g0186 a0001c0001t0068g0187	2	244	0.0082	-75	c.103 others(94): Show c.103+38546_103+38620delGGGGAAGGGAAGGGAAGGGAAGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGACGGGAGGGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLD5_chr1_242077986_242529697	242144150	TGAGCCAC others(68): Show TGAGCCACCACACCCAGCCTCAAATTTTATTTTTTTAAAAAATATTATTA AACAAACCAAAATTTCTGCAGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01978.hp2 HG02055.hp1 others(13): Show HG01168.hp1 HG01978.hp2 HG02055.hp1 HG02080.hp2 HG02572.hp1 HG02647.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04204.hp1 NA18906.hp2 NA18965.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0038 a0001c0001t0079 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0074 a0001c0006t0007 a0002c0003t0006	a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0043 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0005g0014 a0001c0001t0007g0048 a0001c0001t0015g0036 a0001c0001t0038g0045 a0001c0001t0079g0182 a0001c0002t0003g0128 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0009g0169 a0001c0002t0011g0142 a0001c0002t0074g0163 a0001c0006t0007g0021 a0002c0003t0006g0081	16	188	0.0851	-75	c.736 others(94): Show c.736-19560_736-19486delCCAGCCTGCAGAAATTTTGGTTTGTT TAATAATATTTTTTAAAAAAATAAAATTTGAGGCTGGGTGTGGTGGCTC	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLEKHA4_chr19_48832097_48873617	48834564	GAGCCTGG others(68): Show GAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAAGGGCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	300	0.0033	-75	c.26 others(86): Show c.2650_*2724delTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCT	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2532		chr19	TogoVar
PLEKHN1_chr1_961482_980865	964631	CGGGTCCG others(68): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGATGTGCTGCCGGGAGGGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0037 a0001c0001t0016g0037	1	422	0.0024	-75	c.-19 others(86): Show c.-1900_-1826delGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGG GCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1850		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964661	GGGGGGCG others(68): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA18960.hp2 HG03669.hp2 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0042 a0003c0003t0001 a0001c0001t0042 a0003c0003t0001	a0001c0001t0042g0001 a0003c0003t0001g0004 a0001c0001t0042g0001 a0003c0003t0001g0004	2	422	0.0047	-75	c.-18 others(86): Show c.-1870_-1796delGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCG GGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1820		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964699	GGGGGGCG others(68): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18998.hp2 HG00558.hp1 NA18998.hp2	a0001 a0005 a0001 a0005	a0001c0012 a0005c0014 a0001c0012 a0005c0014	a0001c0012t0009 a0005c0014t0004 a0001c0012t0009 a0005c0014t0004	a0001c0012t0009g0012 a0005c0014t0004g0012 a0001c0012t0009g0012 a0005c0014t0004g0012	2	422	0.0047	-75	c.-18 others(86): Show c.-1832_-1758delGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCG GGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1782		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964737	GGGGGGCG others(68): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-75	c.-17 others(86): Show c.-1794_-1720delGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCG GGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1744		chr1	TogoVar
POLR3A_chr10_77970149_78034515	78030491	TTTTTTTT others(68): Show TTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCTAGACTGGAGTGCAGTGGCGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02717.hp1 HG00642.hp2 HG02717.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0020 a0001c0001t0001 a0004c0010t0020	a0001c0001t0001g0303 a0004c0010t0020g0304 a0001c0001t0001g0303 a0004c0010t0020g0304	2	374	0.0054	-75	c.-11 others(86): Show c.-1159_-1085delTCGCCACTGCACTCCAGTCTAGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAAAA	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding		977		chr10	TogoVar
PPFIA2_chr12_81252975_81764350	81518495	CTAGCTAT others(68): Show CTAGCTATTCATCTTAGATAGTACAACCCATCATGGTAAGCACTTTCTTA CTGACACCTTCACCTTTCTAAGCATT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	168	0.0060	-75	c.304 others(94): Show c.304-60704_304-60630delAATGCTTAGAAAGGTGAAGGTGTCAG TAAGAAAGTGCTTACCATGATGGGTTGTACTATCTAAGATGAATAGCTA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP2R2D_chr10_131896008_131964834	131952166	GCGGGTGT others(68): Show GCGGGTGTGCAGGGGGTTTCACTGTCTTAGCAGTGACTTGCGGGTGTGCG GGGGGGTTCACTGTCTTAGCAGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(82): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(36): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0065 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0005t0018 a0003c0004t0113	a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 others(80): Show a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0004g0147 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0113 a0001c0001t0006g0115 a0001c0001t0006g0119 a0001c0001t0006g0135 a0001c0001t0006g0202 a0001c0001t0006g0347 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0017g0013 a0001c0001t0017g0133 a0001c0001t0017g0257 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0033g0090 a0001c0001t0033g0134 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0038g0121 a0001c0001t0039g0097 a0001c0001t0065g0092 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0086g0122 a0001c0001t0089g0086 a0001c0001t0091g0166 a0001c0001t0092g0053 a0001c0001t0093g0165 a0001c0001t0095g0114 a0001c0001t0096g0056 a0001c0001t0097g0001 a0001c0001t0098g0096 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0103g0108 a0001c0001t0104g0001 a0001c0001t0105g0013 a0001c0001t0106g0087 a0001c0001t0107g0079 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0005t0018g0255 a0003c0004t0113g0103	85	394	0.2157	-75	c.108 others(94): Show c.1083-3517_1083-3443delCGGGTGTGCAGGGGGTTTCACTGTCT TAGCAGTGACTTGCGGGTGTGCGGGGGGGTTCACTGTCTTAGCAGTGAC	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8			chr10	TogoVar
PRKCA_chr17_66297613_66815743	66798623	GTGATGGT others(68): Show GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	178	0.0056	-75	c.185 others(94): Show c.1855-5247_1855-5173delATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799508	GTGATGGT others(68): Show GTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19043.hp2 NA19240.hp1 HG03098.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0057 a0001c0001t0071 a0001c0001t0015 a0001c0001t0057 a0001c0001t0071	a0001c0001t0015g0100 a0001c0001t0057g0054 a0001c0001t0071g0153 a0001c0001t0015g0100 a0001c0001t0057g0054 a0001c0001t0071g0153	3	178	0.0169	-75	c.185 others(94): Show c.1855-4362_1855-4288delATGGTAATGGTGGTGGTGATGGTGGT GGTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799529	ATGGTGGT others(68): Show ATGGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0109 a0001c0002t0015g0109	1	178	0.0056	-75	c.185 others(94): Show c.1855-4333_1855-4259delAGTGACGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2106695	CCCTCCGG others(68): Show CCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCTGGTGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	286	0.0035	-75	c.335 others(94): Show c.335-28561_335-28487delGGTGGGCGAGGACCTCCATGCGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121526	GGCAGTAG others(68): Show GGCAGTAGTTAGGGTTATATCAGTAGTTAGGGCTATGGCTGTAGTTAGGG TGATGGTGGTAGTTAAGGTCACAGCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	286	0.0035	-75	c.335 others(94): Show c.335-13734_335-13660delCAGTAGTTAGGGTTATATCAGTAGTT AGGGCTATGGCTGTAGTTAGGGTGATGGTGGTAGTTAAGGTCACAGCAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122121	ACGGTGGT others(68): Show ACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGT GGTGGTTAGGGTTGTGGTGGTTAGGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	286	0.0035	-75	c.335 others(94): Show c.335-13140_335-13066delCGGTGGTGGTTAGGGTCGTGGTGGTT AGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122122	CGGTGGTG others(68): Show CGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTG GTGGTTAGGGTTGTGGTGGTTAGGGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	286	0.0035	-75	c.335 others(94): Show c.335-13119_335-13045delTGGTTAGGGTCGTGGTGGTTAGGGTC GTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122143	TGGTTAGG others(68): Show TGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTT AGGGTGGTGGTGGTTAGGGTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	286	0.0035	-75	c.335 others(94): Show c.335-13115_335-13041delTAGGGTCGTGGTGGTTAGGGTCGTGG TGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122637	GGTGGTTA others(68): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0215 a0001c0002t0004g0215	1	286	0.0035	-75	c.335 others(94): Show c.335-12619_335-12545delTAGGGTTGTGGTGGTTAGGGTCGTGG CGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124042	CACGGCGG others(68): Show CACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTA GGGTCACGGCGACGGTTAGGGTCACG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01433.hp1 others(16): Show HG01109.hp1 HG01192.hp1 HG01433.hp1 HG02602.hp1 HG02683.hp2 HG03654.hp1 HG03942.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp1 NA18983.hp1 NA19055.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0091 others(16): Show a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0229 a0001c0002t0004g0149 a0001c0003t0001g0114 a0001c0003t0001g0259	19	286	0.0664	-75	c.335 others(94): Show c.335-11219_335-11145delACGGCGGCGGTTAGGGTCACGGCGGC GGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGACGGTTAGGGTCACG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKD3_chr2_37245502_37329833	37249568	CACACACA others(68): Show CACACACACACACACACACACACACACACACACACAGAGGGGAGATCGCT CCGTTGCACTGTAGCCTGTGATAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0053 a0001c0009t0053	a0001c0009t0053g0377 a0001c0009t0053g0377	1	388	0.0026	-75	c.35 others(86): Show c.3534_*3608delCTCTATCACAGGCTACAGTGCAACGGAGCGATCT CCCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		933		chr2	TogoVar
PSCA_chr8_142675495_142687725	142685268	AACCGGGC others(68): Show AACCGGGCAGCTCAGGAGGCTGCTTCCAATGGTTGACCAGATACAGTGGA GATCAGAGCCTTGGCTATATTTATGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	432	0.0023	-75	c.31 others(86): Show c.3137_*3211delACCGGGCAGCTCAGGAGGCTGCTTCCAATGGTTG ACCAGATACAGTGGAGATCAGAGCCTTGGCTATATTTATGC	PSCA	ENSG00000167653.5	transcript	ENST00000301258.5	protein_coding		2544		chr8	TogoVar
PTK2_chr8_140652900_141006282	141002969	TAAGTATT others(68): Show TAAGTATTTGTCAAGTGAATGAACGAAGCTTTGGGTGATGTGAAGTGAGA GCTTATTATTAAAAGGATAAGAAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	290	0.0035	-75	c.-20 others(86): Show c.-2041_-1967delCTTTTCTTATCCTTTTAATAATAAGCTCTCACTT CACATCACCCAAAGCTTCGTTCATTCACTTGACAAATACTT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding		1688		chr8	TogoVar
PUM1_chr1_30926506_31070717	30972269	AAGGGAAG others(68): Show AAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	334	0.0030	-75	c.150 others(94): Show c.1506+2307_1506+2381delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972274	AAGGGAAG others(68): Show AAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	334	0.0030	-75	c.150 others(94): Show c.1506+2302_1506+2376delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972392	GGGAGGGG others(68): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	334	0.0030	-75	c.150 others(94): Show c.1506+2184_1506+2258delTCTTCTCTTCTCTTCTCTTCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PVR_chr19_44638910_44671162	44667703	TTATATAA others(68): Show TTATATAAATATATATAAATTATATATTTATATATATAATATATAAATTA TATAAATTATATATATTTATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0148 a0001c0001t0039g0148	1	412	0.0024	-75	c.58 others(86): Show c.5893_*5967delTATATAAATATATATAAATTATATATTTATATAT ATAATATATAAATTATATAAATTATATATATTTATATATAA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1542		chr19	TogoVar
PXDN_chr2_1626887_1749515	1695906	CTGGACAG others(68): Show CTGGACAGAGAGGTGCTGTCCCATCCACAAGCCCCTATGCCCTGGGTCTG AGCACCTGAGAGGTGGCCTAGAGTGA	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0002 a0010c0031t0002	a0010c0031t0002g0120 a0010c0031t0002g0120	1	322	0.0031	-75	c.201 others(92): Show c.201-2847_201-2773delTCACTCTAGGCCACCTCTCAGGTGCTCA GACCCAGGGCATAGGGGCTTGTGGATGGGACAGCACCTCTCTGTCCA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB40C_chr16_585066_634268	631733	CCCACCCC others(68): Show CCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCCTCTCCTC CCATCCACTCCTCCCATCCACTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	350	0.0029	-75	c.41 others(86): Show c.4112_*4186delCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCC TCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTTCTT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2466		chr16	TogoVar
RADIL_chr7_4792055_4888716	4802271	CACCTCGG others(68): Show CACCTCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCAGGTACCTCGGGGC ATGCTGGCTGGGCCCCCTCCCCGGGT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0089 a0001c0001t0018g0089	1	292	0.0034	-75	c.250 others(92): Show c.2500-351_2500-277delACCCGGGGAGGGGGCCCAGCCAGCATGC CCCGAGGTACCTGGGGAGGGGGCCCCCCAGCCAGCGTGCCCCGAGGT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4802878	TCTGGCTG others(68): Show TCTGGCTGGGGGGCCCCCTCCCCGGGCACCTCGGGGAATGCTGGCTGGGT CCCCTCCCCGGGCACCTCGGGGCACG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01074.hp2 others(33): Show HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01361.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03453.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2 NA19240.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0003 a0005 a0014 others(2): Show a0003 a0005 a0014 a0028 a0029	a0003c0005 a0003c0013 a0003c0021 others(4): Show a0003c0005 a0003c0013 a0003c0021 a0005c0003 a0014c0019 a0028c0055 a0029c0045	a0003c0005t0005 a0003c0005t0013 a0003c0005t0016 others(15): Show a0003c0005t0005 a0003c0005t0013 a0003c0005t0016 a0003c0005t0043 a0003c0005t0060 a0003c0013t0001 a0003c0013t0002 a0003c0013t0016 a0003c0021t0013 a0003c0021t0047 a0005c0003t0001 a0005c0003t0002 a0005c0003t0005 a0005c0003t0034 a0014c0019t0019 a0014c0019t0026 a0028c0055t0026 a0029c0045t0002	a0003c0005t0005g0075 a0003c0005t0005g0093 a0003c0005t0005g0097 others(33): Show a0003c0005t0005g0075 a0003c0005t0005g0093 a0003c0005t0005g0097 a0003c0005t0005g0098 a0003c0005t0005g0099 a0003c0005t0005g0144 a0003c0005t0013g0078 a0003c0005t0013g0079 a0003c0005t0016g0167 a0003c0005t0016g0168 a0003c0005t0043g0094 a0003c0005t0060g0160 a0003c0013t0001g0179 a0003c0013t0001g0180 a0003c0013t0002g0145 a0003c0013t0002g0155 a0003c0013t0016g0212 a0003c0021t0013g0096 a0003c0021t0047g0118 a0005c0003t0001g0163 a0005c0003t0001g0186 a0005c0003t0002g0020 a0005c0003t0002g0031 a0005c0003t0002g0033 a0005c0003t0002g0036 a0005c0003t0002g0037 a0005c0003t0002g0039 a0005c0003t0002g0041 a0005c0003t0002g0057 a0005c0003t0005g0095 a0005c0003t0034g0068 a0014c0019t0019g0050 a0014c0019t0019g0052 a0014c0019t0026g0164 a0028c0055t0026g0190 a0029c0045t0002g0102	36	292	0.1233	-75	c.249 others(92): Show c.2499+593_2499+667delCGTGCCCCGAGGTGCCCGGGGAGGGGAC CCAGCCAGCATTCCCCGAGGTGCCCGGGGAGGGGGCCCCCCAGCCAG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4803067	GCTGGCTG others(68): Show GCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGGGGC CCCCTCCCCGGGTACCTCGGGGCACT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	292	0.0034	-75	c.249 others(92): Show c.2499+404_2499+478delAGTGCCCCGAGGTACCCGGGGAGGGGGC CCCCCAGCCAGCGTGCCCCGAGGTGCCCGGGGAGGGGACCCAGCCAG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RAG1_chr11_36563007_36584762	36583569	CTCTAAAT others(68): Show CTCTAAATGCATAGCCGCACACTAGTAGGTGTTATGAAGGAAAAACACTA AATGTGATCAGAGCACAATAGGTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	390	0.0026	-75	c.71 others(86): Show c.7134_*7208delTCTAAATGCATAGCCGCACACTAGTAGGTGTTAT GAAGGAAAAACACTAAATGTGATCAGAGCACAATAGGTGCA	RAG1	ENSG00000166349.11	transcript	ENST00000299440.6	protein_coding		3808		chr11	TogoVar
RASA3_chr13_113972783_114137623	114005883	TTCTCCCC others(68): Show TTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTC CTGCCCTGCTGGATGCCACCTTACCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0011 a0001c0001t0006g0012	2	67	0.0299	-75	c.174 others(94): Show c.1742+1575_1742+1649delGGGTAAGGTGGCATCCAGCAGGGCAG GAGTGGGGAGAAGGGTAAGGTGGCGTCCGGCAGGGCAGGAGGGGGGAGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099118	CCCCCCAG others(68): Show CCCCCCAGACCACAGCAGTCGGGGCCCGGCCACCCGAGCCCCCCAGACCA CAGCAGTCGGGGCCCGGCCACCCGAG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	67	0.0149	-75	c.56- others(92): Show c.56-25356_56-25282delCTCGGGTGGCCGGGCCCCGACTGCTGTG GTCTGGGGGGCTCGGGTGGCCGGGCCCCGACTGCTGTGGTCTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar

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