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
PIEZO1_chr16_88710338_88790220	88741716	CCAGGTGC others(83): Show CCAGGTGCGGGTGGGAGTGTGGATGGGTCTCCAGGTGCGGGTGGGAGTGT GGATGGGTCTCCAGGTGCGGGTGAGAGTGTGGATGGGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01106.hp1 others(3): Show HG00140.hp1 HG00323.hp1 HG01106.hp1 HG01261.hp1 HG02559.hp1 HG02683.hp2	a0007 a0007	a0007c0008 a0007c0079 a0007c0008 a0007c0079	a0007c0008t0004 a0007c0079t0004 a0007c0008t0004 a0007c0079t0004	a0007c0008t0004g0162 a0007c0008t0004g0163 a0007c0008t0004g0165 others(3): Show a0007c0008t0004g0162 a0007c0008t0004g0163 a0007c0008t0004g0165 a0007c0008t0004g0224 a0007c0008t0004g0267 a0007c0079t0004g0166	6	280	0.0214	-90	c.327 others(105): Show c.327-190_327-101delCAGACCCATCCACACTCTCACCCGCACCTG GAGACCCATCCACACTCCCACCCGCACCTGGAGACCCATCCACACTCCCA CCCGCACCTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	4/50			chr16	TogoVar
PIK3C2G_chr12_18256518_18653416	18369434	TGATCATA others(83): Show TGATCATATAACGATCGTATAATTGACATATGATCATATAACGATCGTAT AATTGACATATGATCATATAACGATCGTATAATTGACATAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03490.hp2 NA20129.hp1 HG02559.hp2 HG03490.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0004c0042 a0001c0001 a0004c0006 a0004c0042	a0001c0001t0001 a0004c0006t0002 a0004c0042t0002 a0001c0001t0001 a0004c0006t0002 a0004c0042t0002	a0001c0001t0001g0159 a0004c0006t0002g0107 a0004c0042t0002g0175 a0001c0001t0001g0159 a0004c0006t0002g0107 a0004c0042t0002g0175	3	174	0.0172	-90	c.174 others(109): Show c.1749-1656_1749-1567delCGATCATATAACGATCGTATAATTGA CATATGATCATATAACGATCGTATAATTGACATATGATCATATAACGATC GTATAATTGACATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18369747	GTCGTATA others(83): Show GTCGTATAATTGACATATGATCATATAACGATCGTATAATTGACATATGA TCATATAACGATCGTATAATTGACATATGATCATATAACGA	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0002 a0005c0022t0002	a0005c0022t0002g0078 a0005c0022t0002g0078	1	57	0.0175	-90	c.174 others(109): Show c.1749-1433_1749-1344delGTCGTATAATTGACATATGATCATAT AACGATCGTATAATTGACATATGATCATATAACGATCGTATAATTGACAT ATGATCATATAACG	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32			chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18369747	GTCGTATA others(83): Show GTCGTATAATTGACATATGATCATATAACGATCGTATAATTGACATATGA TCATATAACGATCGTATAATTGACATATGATCATATAACGA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19043.hp2 NA18977.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0033 a0002c0002t0002g0120 a0001c0001t0001g0033 a0002c0002t0002g0120	2	58	0.0345	-90	c.174 others(109): Show c.1749-1195_1749-1106delCGATCGTATAATTGACATATGATCAT ATAACGATCGTATAATTGACATATGATCATATAACGATCGTATAATTGAC ATATGATCATATAA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C3_chr18_41950234_42092830	42009616	CTACATTA others(83): Show CTACATTATGTAATGTACATTATGTAATGCTTACATTATGTAATGTACAT TATGTAATGCTTACATTATGTAATGTACATTATGTAATGCT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	90	0.0111	-90	c.117 others(109): Show c.1171-3760_1171-3671delTATGTAATGTACATTATGTAATGCTT ACATTATGTAATGTACATTATGTAATGCTTACATTATGTAATGTACATTA TGTAATGCTTACAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PKP3_chr11_389209_409908	402540	CCGCTCAC others(83): Show CCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCC GACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0047 a0004c0015t0001g0047	1	214	0.0047	-90	c.173 others(107): Show c.1738-536_1738-447delGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCG CTCACCCCCGAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLD5_chr1_242077986_242529697	242394404	GTATATAT others(83): Show GTATATATGAGTATATATGTGTGTATATGAGTATATATGTGTGTATATGA GTATATATGTGAACATATATATGTGTATATATGTGAACATA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0089 a0001c0001t0017g0089	1	92	0.0109	-90	c.190 others(109): Show c.190-46252_190-46163delTATGTTCACATATATACACATATATA TGTTCACATATATACTCATATACACACATATATACTCATATACACACATA TATACTCATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394637	TATATATG others(83): Show TATATATGTGTATATATGTGAACATATATATGTGTATATATGTGAACATA TATGTGTATATATGTGAACATATATGTGTATATATGTGAAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG04184.hp1 HG01975.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0078 a0001c0001t0040g0013 a0001c0001t0001g0078 a0001c0001t0040g0013	2	174	0.0115	-90	c.190 others(109): Show c.190-46485_190-46396delGTTCACATATATACACATATATGTTC ACATATATACACATATATGTTCACATATATACACATATATATGTTCACAT ATATACACATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	164809	CACTAATG others(83): Show CACTAATGCTGTGACGGAGCGGAGCTCACACTAATGCTGTGACAGGGGGC GGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01515.hp1 others(3): Show HG01243.hp1 HG01256.hp1 HG01515.hp1 HG01928.hp1 HG02683.hp1 HG03098.hp2	a0003 a0031 a0003 a0031	a0003c0009 a0003c0056 a0031c0060 a0003c0009 a0003c0056 a0031c0060	a0003c0009t0007 a0003c0056t0007 a0031c0060t0020 a0003c0009t0007 a0003c0056t0007 a0031c0060t0020	a0003c0009t0007g0050 a0003c0009t0007g0087 a0003c0009t0007g0091 others(3): Show a0003c0009t0007g0050 a0003c0009t0007g0087 a0003c0009t0007g0091 a0003c0009t0007g0092 a0003c0056t0007g0080 a0031c0060t0020g0187	6	208	0.0288	-90	c.347 others(109): Show c.3476+1262_3476+1351delACTAATGCTGTGACGGAGCGGAGCTC ACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGG CGGAGCTCACACAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLEKHJ1_chr19_2228153_2241329	2240988	AAGCTGCC others(83): Show AAGCTGCCGGCCATGAGGACGCATGGGTGGGCGCTGTGGAGAGTGCAGGC TTGGGGGTAGAGACCAGTGATGGCTCTGCAGAGCTTAGCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-90	c.-48 others(101): Show c.-4830_-4741delAGGCTAAGCTCTGCAGAGCCATCACTGGTCTCTA CCCCCAAGCCTGCACTCTCCACAGCGCCCACCCATGCGTCCTCATGGCCG GCAGCT	PLEKHJ1	ENSG00000104886.12	transcript	ENST00000326631.7	protein_coding		4660		chr19	TogoVar
PLEKHN1_chr1_961482_980865	977926	CACCACCC others(83): Show CACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0133 a0001c0001t0010g0133	1	419	0.0024	-90	c.33 others(101): Show c.3352_*3441delACCACCCCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGC CTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2062		chr1	TogoVar
PLVAP_chr19_17346455_17382342	17349136	TTCTTTCT others(83): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG04228.hp2 HG01515.hp1 HG01517.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0002g0128 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0002g0128	3	434	0.0069	-90	c.31 others(101): Show c.3136_*3225delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2318		chr19	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(83): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01261.hp2 others(24): Show HG00639.hp1 HG00738.hp2 HG01261.hp2 HG01346.hp1 HG02056.hp2 HG02074.hp1 HG02559.hp2 HG03710.hp1 NA18944.hp2 NA18950.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA19005.hp1 NA19056.hp1 NA19062.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0046	a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0219 others(24): Show a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0221 a0001c0001t0005g0171 a0001c0001t0005g0212 a0001c0001t0005g0214 a0001c0001t0005g0218 a0001c0001t0005g0226 a0001c0001t0007g0166 a0001c0001t0013g0209 a0001c0001t0018g0165 a0001c0001t0018g0222 a0001c0001t0019g0217 a0001c0001t0019g0220 a0001c0001t0037g0229 a0001c0001t0038g0228 a0001c0001t0039g0215 a0001c0001t0042g0169 a0001c0001t0046g0174	27	38	0.7105	-90	c.292 others(109): Show c.292-24722_292-24633delTTATCTTCAGGTGTACTGAAGATAAA TGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTAC TGAAGATAAATGAA	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP1R12C_chr19_55085918_55122637	55096864	CGTCTTCG others(83): Show CGTCTTCGCCCCTTCCCCGCAGTTCACCACCGTCTTCGCCCCTTCCCCGC AGTTCACCACCGTCTTCGCCCCTTCCCTGCAGTTCACCACT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	388	0.0026	-90	c.952 others(105): Show c.952-619_952-530delAGTGGTGAACTGCAGGGAAGGGGCGAAGAC GGTGGTGAACTGCGGGGAAGGGGCGAAGACGGTGGTGAACTGCGGGGAAG GGGCGAAGAC	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP3CA_chr4_101018418_101352526	101090833	GACATATC others(83): Show GACATATCTGTGTCTATATTATAATATACACACATATCTGTGTCTATATT ATAATATACACACATATCTGTGTCTATATTATAATATACAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01074.hp2 others(31): Show HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01175.hp1 HG01175.hp2 HG01258.hp2 HG01884.hp2 HG01975.hp1 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03669.hp1 NA18522.hp2 NA19030.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0048 a0001c0001t0057 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0002t0007 a0001c0002t0016 a0001c0002t0019 a0001c0002t0021 a0001c0002t0024 a0001c0002t0052	a0001c0001t0001g0135 a0001c0001t0002g0027 a0001c0001t0002g0050 others(31): Show a0001c0001t0001g0135 a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0035 a0001c0001t0013g0189 a0001c0001t0015g0005 a0001c0001t0015g0007 a0001c0001t0017g0043 a0001c0001t0017g0044 a0001c0001t0022g0091 a0001c0001t0036g0030 a0001c0001t0039g0032 a0001c0001t0041g0048 a0001c0001t0043g0019 a0001c0001t0048g0033 a0001c0001t0057g0097 a0001c0001t0067g0165 a0001c0001t0068g0118 a0001c0001t0070g0148 a0001c0001t0071g0124 a0001c0002t0007g0087 a0001c0002t0007g0088 a0001c0002t0007g0095 a0001c0002t0007g0096 a0001c0002t0016g0017 a0001c0002t0019g0093 a0001c0002t0019g0094 a0001c0002t0021g0085 a0001c0002t0024g0137 a0001c0002t0024g0139 a0001c0002t0052g0090	34	121	0.2810	-90	c.782 others(107): Show c.782+2853_782+2942delGTGTATATTATAATATAGACACAGATAT GTGTGTATATTATAATATAGACACAGATATGTGTGTATATTATAATATAG ACACAGATATGT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	6/13			chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151603340	GTCCTCAC others(83): Show GTCCTCACCGCACACGGAGGCACCCGCTCCGTCCTCACCGCACACGGAGG GACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG01884.hp2 others(7): Show HG00735.hp1 HG01243.hp2 HG01884.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02922.hp2 HG03139.hp2 HG03831.hp2 NA19240.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0008 a0005c0012 a0001c0001 a0004c0008 a0005c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0029 a0004c0008t0006 a0005c0012t0006	a0001c0001t0001g0035 a0001c0001t0006g0023 a0001c0001t0006g0033 others(7): Show a0001c0001t0001g0035 a0001c0001t0006g0023 a0001c0001t0006g0033 a0001c0001t0006g0158 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0019g0003 a0001c0001t0029g0244 a0004c0008t0006g0206 a0005c0012t0006g0151	10	250	0.0400	-90	c.755 others(107): Show c.755-7976_755-7887delTGGAGCGTGTCCCTCCGTGTGCGGTGAG GACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGGGTGCCTCCGT GTGCGGTGAGGA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603453	ACGCTCCG others(83): Show ACGCTCCGTCCTCACCGCACACGGAGGCACCCGCTCCGTCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGCACC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02965.hp2 HG02258.hp1 HG02486.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0099 a0001c0001t0001g0135 a0001c0001t0009g0004 a0001c0001t0001g0099 a0001c0001t0001g0135 a0001c0001t0009g0004	3	249	0.0120	-90	c.755 others(107): Show c.755-8089_755-8000delGGTGCCTCCGTGTGCGGTGAGGACGGAG CGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGGGTGCCTCCGTGTGCGGT GAGGACGGAGCG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151874171	GATGTATA others(83): Show GATGTATATGTATATGTATATGTATATGATGTATATGTATATGTATATGA TGTATATGTATATGATGTATATGTATATGTATATGATGTAT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0251 a0001c0001t0016g0251	1	183	0.0055	-90	c.114 others(107): Show c.114+2246_114+2335delATACATCATATACATATACATATACATC ATATACATATACATCATATACATATACATATACATCATATACATATACAT ATACATATACAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799088	GTGGTGGT others(83): Show GTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0064 a0001c0003t0010g0064	1	153	0.0065	-90	c.185 others(109): Show c.1855-4767_1855-4678delATGGTGACGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2121586	AGTTAAGG others(83): Show AGTTAAGGTCACAGCAGTAATTAGGGTCATGGTGGTGGTTAGGGTCACAG TGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	267	0.0037	-90	c.335 others(109): Show c.335-13671_335-13582delAGGTCACAGCAGTAATTAGGGTCATG GTGGTGGTTAGGGTCACAGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGT CGTGGTGGTGGTTA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122637	GGTGGTTA others(83): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19010.hp2 NA19070.hp2 HG00408.hp2 NA19010.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0253 a0001c0002t0001g0217 a0001c0003t0001g0115 a0001c0001t0001g0253 a0001c0002t0001g0217 a0001c0003t0001g0115	3	238	0.0126	-90	c.335 others(109): Show c.335-12619_335-12530delTAGGGTTGTGGTGGTTAGGGTCGTGG CGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123453	GGGTTGTG others(83): Show GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03017.hp2 HG01192.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0186 a0001c0003t0003g0193 a0001c0003t0003g0186 a0001c0003t0003g0193	2	283	0.0071	-90	c.335 others(109): Show c.335-11804_335-11715delGTGGTGGTTAGGGTTGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTTGTGGTGGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51553886	TATATAAT others(83): Show TATATAATATATGTATGTATTAGATACGTGTATATAATATATGTATGTAT TAGATACGTGTATATAATATATGTATGTATTAGATACGTGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG02615.hp1 others(11): Show HG00639.hp2 HG00735.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03579.hp1 HG03688.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0002t0006 a0001c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0054 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0002g0004 a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0001t0003g0060 a0001c0001t0005g0064 a0001c0001t0007g0006 a0001c0001t0014g0032 a0001c0002t0001g0017 a0001c0002t0001g0052 a0001c0002t0006g0013 a0001c0008t0001g0020	14	63	0.2222	-90	c.592 others(109): Show c.592+86055_592+86144delAATATATGTATGTATTAGATACGTGT ATATAATATATGTATGTATTAGATACGTGTATATAATATATGTATGTATT AGATACGTGCATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRSS41_chr16_2793470_2810304	2802000	CGGCTGGC others(83): Show CGGCTGGCCGGGCGTGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG TGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGATGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02717.hp1 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0033 a0002c0002t0001g0034	2	423	0.0047	-90	c.542 others(107): Show c.542-2383_542-2294delGCCGGGCGTGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAG ATGGGGTGGCTG	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
PSEN1_chr14_73131507_73228691	73184267	CCCTCCCG others(83): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp2 HG02080.hp2 others(14): Show HG00558.hp2 HG02015.hp2 HG02080.hp2 NA18943.hp1 NA18948.hp2 NA18963.hp2 NA18971.hp1 NA18975.hp2 NA18988.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19062.hp1 NA19068.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0345 others(14): Show a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0345 a0001c0001t0002g0350 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0005g0339	17	376	0.0452	-90	c.481 others(107): Show c.481-2532_481-2443delCCGGACGGGGCGGCTGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184340	GGGCAGAG others(83): Show GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCTCCGACGGGGCGGCTGGCCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show HG00408.hp1 HG00544.hp2 HG01081.hp2 HG01975.hp1 HG02056.hp1 HG02145.hp2 HG02738.hp1 HG03579.hp2 HG03704.hp2 HG03942.hp1 NA18747.hp2 NA18947.hp2 NA18948.hp1 NA18965.hp1 NA18974.hp2 NA18992.hp2 NA19063.hp1 NA19072.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0006 a0001c0001t0015 a0001c0006t0006 others(1): Show a0001c0001t0006 a0001c0001t0015 a0001c0006t0006 a0002c0005t0006	a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 others(16): Show a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0147 a0001c0001t0006g0256 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0015g0300 a0001c0001t0015g0301 a0001c0006t0006g0152 a0002c0005t0006g0273	19	376	0.0505	-90	c.481 others(107): Show c.481-2504_481-2415delCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCTCCGACGGGGCGGCTG GCCTGGCAGAGG	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG3_chr19_42716642_42745481	42719765	AAATACCA others(83): Show AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCAAAAGGAC TATAAATCATGCTGCTATTAAGACACATGCACATGTATGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	366	0.0027	-90	c.22 others(101): Show c.2276_*2365delAACATACATGTGCATGTGTCTTAATAGCAGCATG ATTTATAGTCCTTTTGGTATATACCCAGTAATGGGATGGCTGGGTCAAAT GGTATT	PSG3	ENSG00000221826.10	transcript	ENST00000327495.10	protein_coding		1876		chr19	TogoVar
PUM1_chr1_30926506_31070717	30972274	AAGGGAAG others(83): Show AAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20905.hp1 HG01361.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0328 a0001c0001t0005g0147 a0001c0001t0005g0328	2	161	0.0124	-90	c.150 others(109): Show c.1506+2287_1506+2376delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTTCCCTTCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972377	GGGAGGGG others(83): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18952.hp1 NA18960.hp1 others(1): Show HG03225.hp2 NA18952.hp1 NA18960.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0197 a0001c0001t0001g0267 a0001c0001t0004g0262 others(1): Show a0001c0001t0001g0197 a0001c0001t0001g0267 a0001c0001t0004g0262 a0001c0001t0011g0264	4	322	0.0124	-90	c.150 others(109): Show c.1506+2184_1506+2273delTCTTCTCTTCTCTTCTCTTCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972379	GAGGGGAG others(83): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03710.hp2 HG02451.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0143 a0001c0001t0001g0012 a0001c0001t0001g0143	2	328	0.0061	-90	c.150 others(109): Show c.1506+2182_1506+2271delTCTCTTCTCTTCTCTTCTCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20333264	TGGCTCAT others(83): Show TGGCTCATGCCTGTAATCCTAACACATTATTGAGGCTATGGTGGGAGGAT CGCTTGAGGCCAGGAATTCAAGACCATCCTTGGCAACATAG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	356	0.0028	-90	c.-18 others(107): Show c.-18-5976_-18-5887delCTATGTTGCCAAGGATGGTCTTGAATTC CTGGCCTCAAGCGATCCTCCCACCATAGCCTCAATAATGTGTTAGGATTA CAGGCATGAGCC	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20			chr2	TogoVar
RASA3_chr13_113972783_114137623	114030382	ACTCACAC others(83): Show ACTCACACAGGAGGCAAGACTCACGCAGAGAGCAAGACTCACACAGAGGG CAAGGCTCACACAGAGGGCAAGGCTCACACAGAGGGCAAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp2 others(27): Show HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02300.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18973.hp1 NA18975.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0005t0001 a0001c0009t0008 a0001c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0002g0032 a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0001t0007g0033 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0009t0008g0048 a0001c0011t0001g0045	30	61	0.4918	-90	c.373 others(105): Show c.373-585_373-496delCCTTGCCCTCTGTGTGAGCCTTGCCCTCTG TGTGAGCCTTGCCCTCTGTGTGAGTCTTGCTCTCTGCGTGAGTCTTGCCT CCTGTGTGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114030436	GCTCACAC others(83): Show GCTCACACAGAGGGCAAGGCTCACACAGAGGGCAAGGCTCACACAGAGGG CAAGACTCACACAGAGGGCAAGACTCACACAGAGAGCAAGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 NA18954.hp2 others(1): Show HG01993.hp1 HG01993.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 others(1): Show a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	4	62	0.0645	-90	c.373 others(105): Show c.373-639_373-550delTCTTGCTCTCTGTGTGAGTCTTGCCCTCTG TGTGAGTCTTGCCCTCTGTGTGAGCCTTGCCCTCTGTGTGAGCCTTGCCC TCTGTGTGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7029114	ACACACAC others(83): Show ACACACACATATACGTATATATATATGTGTATATATGTATATATATACAC ATATATATACGTATACGTGTATATATACACATATGTATACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18994.hp1 HG00280.hp2 NA18994.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0034 a0001c0001t0001 a0003c0003t0034	a0001c0001t0001g0025 a0003c0003t0034g0061 a0001c0001t0001g0025 a0003c0003t0034g0061	2	68	0.0294	-90	c.-15 others(109): Show c.-15-22942_-15-22853delCACACACATATACGTATATATATATG TGTATATATGTATATATATACACATATATATACGTATACGTGTATATATA CACATATGTATACG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229744	AAGGAAGG others(83): Show AAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGA GAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02965.hp1 HG03209.hp2 others(1): Show HG02148.hp1 HG02965.hp1 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 others(1): Show a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0035	a0001c0001t0010g0037 a0001c0001t0018g0052 a0001c0001t0019g0055 others(1): Show a0001c0001t0010g0037 a0001c0001t0018g0052 a0001c0001t0019g0055 a0001c0001t0035g0065	4	60	0.0667	-90	c.27+ others(109): Show c.27+177718_27+177807delAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGG AAGGGAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229816	AAGGAAGG others(83): Show AAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	37	0.0270	-90	c.27+ others(109): Show c.27+177772_27+177861delAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGG AAGGGAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79491102	GGGAGGAG others(83): Show GGGAGGAGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	152	0.0066	-90	c.-31 others(109): Show c.-319-8594_-319-8505delTCTCTCCTCCCCTCCCCTCTCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC CTCCCCTCTCCTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM19_chr12_113817057_113971325	113837018	CACACACA others(83): Show CACACACACACACACGTCCCAAGCAATGCTTATGTGTCAGGCATACCTAT CCCCCTACTTACTACATACATACATACATACATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0229 a0002c0007t0001g0229	1	354	0.0028	-90	c.278 others(109): Show c.2785+7560_2785+7649delATGTATGTATGTATGTATGTATGTAT GTAGTAAGTAGGGGGATAGGTATGCCTGACACATAAGCATTGCTTGGGAC GTGTGTGTGTGTGT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM8A_chr1_145916556_145932484	145928045	GGGAGGCT others(83): Show GGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAAACGGAAGCTGATT AGCTGGGCGTGGTGGAGTGCACCTGTAATCCCAGCTACCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02717.hp2 others(2): Show HG02486.hp1 HG02559.hp1 HG02717.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0024 a0001c0001t0008g0014 a0001c0001t0008g0024	5	380	0.0132	-90	c.-70 others(99): Show c.-709_-620delTAGGTAGCTGGGATTACAGGTGCACTCCACCACGCC CAGCTAATCAGCTTCCGTTTCTCGGGTTCAAGCGATTCTCCTGCCTCAGC CTCC	RBM8A	ENSG00000265241.8	transcript	ENST00000583313.7	protein_coding		562		chr1	TogoVar
RCC1L_chr7_75037183_75078802	75053163	GCTGGGGG others(83): Show GCTGGGGGTGGTGCATGGAGCTGGGGTCTGGGGGTGGTGGACAGGGCTGG GGGTAGTGCATGGAGTTGGGGTCTGGGGGTGGTGGACAGGT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	268	0.0037	-90	c.123 others(107): Show c.1232-457_1232-368delACCTGTCCACCACCCCCAGACCCCAACT CCATGCACTACCCCCAGCCCTGTCCACCACCCCCAGACCCCAGCTCCATG CACCACCCCCAG	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	9/10			chr7	TogoVar
RGL3_chr19_11389060_11424314	11414403	TTATATAT others(83): Show TTATATATATATACCTTTATATATATATACCTTCATATATATACATATAT ATATATACCTTCATATATATATATATATATACACCTTCATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0181	1	399	0.0025	-90	c.637 others(107): Show c.637+1444_637+1533delTATGAAGGTGTATATATATATATATATA TGAAGGTATATATATATATGTATATATATGAAGGTATATATATATAAAGG TATATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGPD3_chr2_106398406_106473413	106467602	AAGGCAGC others(83): Show AAGGCAGCCGCCGGGCCGGGTCGAGGCAGCCGCCTCCACAGAGCGCGCCA GGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	366	0.0027	-90	c.72+ others(103): Show c.72+525_72+614delCGATGGCTCAGGCGTCATGGCTCCCGACGGGC GCTGCTCCCTGGCGCGCTCTGTGGAGGCGGCTGCCTCGACCCGGCCCGGC GGCTGCCT	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467811	CGGCCTCA others(83): Show CGGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACG CCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCCGG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0002 a0028c0034t0002	a0028c0034t0002g0375 a0028c0034t0002g0375	1	379	0.0026	-90	c.72+ others(103): Show c.72+316_72+405delCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGA TGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTG TTGAGGCC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827146	TGGCCCGG others(83): Show TGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18974.hp1 HG00558.hp1 NA18974.hp1	a0001 a0052 a0001 a0052	a0001c0043 a0052c0042 a0001c0043 a0052c0042	a0001c0043t0001 a0052c0042t0004 a0001c0043t0001 a0052c0042t0004	a0001c0043t0001g0363 a0052c0042t0004g0364 a0001c0043t0001g0363 a0052c0042t0004g0364	2	371	0.0054	-90	c.72+ others(103): Show c.72+106_72+195delCGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGC GGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGAC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827405	CGGCCTCG others(83): Show CGGCCTCGACCCGGCCCGGCCGCGGCCGCGATGGCTCAGGCGTCATGGCT CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	372	0.0027	-90	c.72+ others(103): Show c.72+339_72+428delCCGCGGCCGCGATGGCTCAGGCGTCATGGCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGAGGCCTCGACC CGGCCCGG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827432	GCGATGGC others(83): Show GCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGC TCTGTTGAGGCGGAGGCCTCGACCCGGCCCGGTGGCGGCCT	G G	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	358	0.0028	-90	c.72+ others(103): Show c.72+410_72+499delAGGCCTCGACCCGGCCCGGTGGCGGCCTCGAT GGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGT TGAGGCGG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827600	CCGGCGGC others(83): Show CCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGC TCCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00609.hp1 others(106): Show HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0007 a0010 a0011 a0017 a0025 a0026 a0031 a0032 a0038 a0042 a0043 a0045 a0046 a0050 a0054 a0057	a0002c0003 a0002c0010 a0002c0014 others(21): Show a0002c0003 a0002c0010 a0002c0014 a0002c0029 a0003c0002 a0003c0013 a0003c0066 a0004c0004 a0007c0009 a0010c0012 a0011c0016 a0017c0023 a0025c0073 a0026c0068 a0031c0074 a0032c0056 a0038c0075 a0042c0072 a0043c0062 a0045c0069 a0046c0067 a0050c0070 a0054c0065 a0057c0064	a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 others(35): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0021 a0002c0003t0028 a0002c0003t0034 a0002c0003t0037 a0002c0003t0042 a0002c0010t0002 a0002c0014t0002 a0002c0029t0002 a0003c0002t0003 a0003c0002t0017 a0003c0002t0025 a0003c0013t0003 a0003c0066t0026 a0004c0004t0002 a0004c0004t0032 a0004c0004t0035 a0007c0009t0002 a0007c0009t0013 a0010c0012t0008 a0011c0016t0022 a0011c0016t0043 a0017c0023t0011 a0025c0073t0002 a0026c0068t0002 a0031c0074t0002 a0032c0056t0008 a0038c0075t0006 a0042c0072t0002 a0043c0062t0003 a0045c0069t0029 a0046c0067t0002 a0050c0070t0033 a0054c0065t0003 a0057c0064t0003	a0002c0003t0001g0167 a0002c0003t0002g0083 a0002c0003t0002g0084 others(106): Show a0002c0003t0001g0167 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0095 a0002c0003t0002g0103 a0002c0003t0002g0105 a0002c0003t0002g0122 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0140 a0002c0003t0002g0147 a0002c0003t0002g0151 a0002c0003t0002g0152 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0156 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0166 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0173 a0002c0003t0002g0368 a0002c0003t0007g0143 a0002c0003t0007g0149 a0002c0003t0007g0155 a0002c0003t0007g0165 a0002c0003t0007g0172 a0002c0003t0009g0365 a0002c0003t0009g0366 a0002c0003t0009g0367 a0002c0003t0009g0369 a0002c0003t0021g0145 a0002c0003t0021g0164 a0002c0003t0028g0174 a0002c0003t0034g0146 a0002c0003t0037g0148 a0002c0003t0042g0091 a0002c0010t0002g0117 a0002c0010t0002g0118 a0002c0010t0002g0119 a0002c0010t0002g0120 a0002c0010t0002g0121 a0002c0014t0002g0087 a0002c0014t0002g0088 a0002c0014t0002g0089 a0002c0029t0002g0086 a0003c0002t0003g0010 a0003c0002t0003g0019 a0003c0002t0003g0023 a0003c0002t0003g0024 a0003c0002t0017g0021 a0003c0002t0025g0017 a0003c0013t0003g0013 a0003c0013t0003g0014 a0003c0013t0003g0015 a0003c0066t0026g0011 a0004c0004t0002g0096 a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0100 a0004c0004t0002g0101 a0004c0004t0002g0107 a0004c0004t0002g0108 a0004c0004t0002g0109 a0004c0004t0002g0110 a0004c0004t0002g0112 a0004c0004t0002g0114 a0004c0004t0002g0128 a0004c0004t0002g0129 a0004c0004t0002g0132 a0004c0004t0002g0134 a0004c0004t0002g0135 a0004c0004t0002g0136 a0004c0004t0002g0137 a0004c0004t0002g0142 a0004c0004t0032g0099 a0004c0004t0035g0116 a0007c0009t0002g0144 a0007c0009t0002g0150 a0007c0009t0002g0157 a0007c0009t0002g0158 a0007c0009t0002g0159 a0007c0009t0002g0160 a0007c0009t0013g0006 a0010c0012t0008g0183 a0010c0012t0008g0184 a0010c0012t0008g0185 a0010c0012t0008g0186 a0011c0016t0022g0130 a0011c0016t0022g0131 a0011c0016t0043g0106 a0017c0023t0011g0018 a0025c0073t0002g0163 a0026c0068t0002g0111 a0031c0074t0002g0370 a0032c0056t0008g0187 a0038c0075t0006g0020 a0042c0072t0002g0175 a0043c0062t0003g0016 a0045c0069t0029g0104 a0046c0067t0002g0133 a0050c0070t0033g0141 a0054c0065t0003g0022 a0057c0064t0003g0012	109	372	0.2930	-90	c.72+ others(103): Show c.72+516_72+605delCGGCGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCACGCTCTGTTGAGGCGGCGGCCTCG ACCTGGCT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827601	CGGCGGCG others(83): Show CGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCT CCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0371 a0002c0003t0013g0371	1	371	0.0027	-90	c.72+ others(103): Show c.72+526_72+615delCTCGATGGCTCAGGCGTCATGGCTCCCGACGG GCGCTGCTCCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCTGG GCGGCGGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827711	TGGCCCGG others(83): Show TGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCTGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0007 a0007	a0007c0047 a0007c0047	a0007c0047t0002 a0007c0047t0002	a0007c0047t0002g0289 a0007c0047t0002g0289	1	363	0.0028	-90	c.72+ others(103): Show c.72+662_72+751delGCTCCTGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAG GCGTCATG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827946	ATCATGGC others(83): Show ATCATGGCTCCCGACGGGCGCTGCTCCCTGACGCGCTCTGTTGAGGCGGC GGCCTCGACCCGGCCCGGCGGCGGCCGCGATGGCTCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01361.hp2 others(4): Show HG00099.hp2 HG01099.hp2 HG01361.hp2 HG01516.hp2 HG04115.hp1 NA18522.hp2 NA19240.hp2	a0003 a0022 a0003 a0022	a0003c0002 a0022c0027 a0003c0002 a0022c0027	a0003c0002t0003 a0022c0027t0020 a0003c0002t0003 a0022c0027t0020	a0003c0002t0003g0027 a0003c0002t0003g0028 a0003c0002t0003g0029 others(4): Show a0003c0002t0003g0027 a0003c0002t0003g0028 a0003c0002t0003g0029 a0003c0002t0003g0030 a0003c0002t0003g0031 a0022c0027t0020g0177 a0022c0027t0020g0178	7	243	0.0288	-90	c.72+ others(103): Show c.72+891_72+980delACGCGCTCTGTTGAGGCGGCGGCCTCGACCCG GCCCGGCGGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCT GCTCCCTG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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