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
PPP1R14B_chr11_64239479_64251943	64243105	GGCGTGGG others(51): Show GGCGTGGGGGGGCAGCTTGATGGGGAAAGCAGCTGAGGGAGGGGGTGTCA GGGGTGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	365	0.0027	-58	c.15 others(69): Show c.1591_*1648delGACCACCCCTGACACCCCCTCCCTCAGCTGCTTT CCCCATCAAGCTGCCCCCCCACGC	PPP1R14B	ENSG00000173457.11	transcript	ENST00000309318.8	protein_coding		1373		chr11	TogoVar
PPP2R2B_chr5_146575742_146883757	146626171	AAGCTAAT others(51): Show AAGCTAATACAGAGAGAAAGAGGTGAACTTTGATTTCACTGTGGAGGGGA AAAACGGGC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp1 HG01981.hp2 HG01496.hp2 HG01928.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0002t0001g0119 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0002t0001g0119	3	170	0.0177	-58	c.790 others(77): Show c.790+12022_790+12079delGCCCGTTTTTCCCCTCCACAGTGAAA TCAAAGTTCACCTCTTTCTCTCTGTATTAGCT	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	7/9			chr5	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(51): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01358.hp1 others(11): Show HG00733.hp1 HG00738.hp2 HG01358.hp1 HG01943.hp1 HG02451.hp2 HG02738.hp2 HG03579.hp2 HG03834.hp1 NA18952.hp2 NA18959.hp1 NA18979.hp1 NA18992.hp2 NA19012.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001	a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 others(10): Show a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0338 a0001c0005t0001g0179 a0001c0007t0001g0008 a0001c0009t0001g0365	14	394	0.0355	-58	c.135 others(75): Show c.1356-647_1356-590delCACACACACACACACACACACACACACA CACACACACACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPT2_chr6_32149141_32168675	32165683	CTGAGGCA others(51): Show CTGAGGCAGGAGAATCACTTGAACCTGGGGGGCGGAGGTCGTGCGGTGAG GCAAGAACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	423	0.0024	-58	c.27 others(69): Show c.2734_*2791delTGAGGCAGGAGAATCACTTGAACCTGGGGGGCGG AGGTCGTGCGGTGAGGCAAGAACA	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding		2009		chr6	TogoVar
PRAG1_chr8_8312736_8391439	8379007	AGTTTCTG others(51): Show AGTTTCTGAACTGGATCAGGGTGAGGGGTGGCTTCTGAACCGGATCAGAG TGAGGGGTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp2 HG01074.hp2 HG01192.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0208 a0016c0025t0001g0209 a0016c0025t0001g0208 a0016c0025t0001g0209	2	336	0.0060	-58	c.331 others(73): Show c.331-987_331-930delCACCCCTCACTCTGATCCGGTTCAGAAGCC ACCCCTCACCCTGATCCAGTTCAGAAAC	PRAG1	ENSG00000275342.6	transcript	ENST00000615670.5	protein_coding	2/5			chr8	TogoVar
PRAMEF19_chr1_13363431_13376947	13370266	TTTATCAT others(51): Show TTTATCATATTAACTTTAAACACACTTCCTAACAAGGAATTCACAAAAGC TATTCATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG02965.hp2 HG03041.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0015 a0001c0001 a0012c0015	a0001c0001t0001 a0012c0015t0001 a0001c0001t0001 a0012c0015t0001	a0001c0001t0001g0022 a0012c0015t0001g0030 a0001c0001t0001g0022 a0012c0015t0001g0030	2	450	0.0044	-58	c.866 others(73): Show c.866+325_866+382delGTATGAATAGCTTTTGTGAATTCCTTGTTA GGAAGTGTGTTTAAAGTTAATATGATAA	PRAMEF19	ENSG00000204480.9	transcript	ENST00000376101.4	protein_coding	2/2			chr1	TogoVar
PRDM15_chr21_41793225_41884344	41844751	TCCCCCTC others(51): Show TCCCCCTCACAGGGACACACACAGTCCCTCCCCCCTCACAGGGACACACA CAGTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0045 a0001c0049t0045	a0001c0049t0045g0234 a0001c0049t0045g0234	1	406	0.0025	-58	c.640 others(75): Show c.640+2281_640+2338delGAGGGACTGTGTGTGTCCCTGTGAGGGG GGAGGGACTGTGTGTGTCCCTGTGAGGGGG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3167807	TGCTCCTG others(51): Show TGCTCCTGCCATCCTCCCGCCCCACCCCTGCCTCCCAGCGCCTCTGTGGC ATCGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00735.hp2 others(12): Show HG00408.hp1 HG00597.hp2 HG00735.hp2 HG01069.hp2 HG01255.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02258.hp1 HG03654.hp1 HG03669.hp2 HG04204.hp1 NA18939.hp1 NA18970.hp1 NA18970.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0004c0010 others(1): Show a0001c0001 a0001c0002 a0004c0010 a0008c0027	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0001t0035 a0001c0001t0048 a0001c0001t0076 a0001c0001t0083 a0001c0001t0088 a0001c0002t0003 a0001c0002t0071 a0004c0010t0026 a0008c0027t0078	a0001c0001t0001g0150 a0001c0001t0008g0064 a0001c0001t0021g0088 others(12): Show a0001c0001t0001g0150 a0001c0001t0008g0064 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0035g0194 a0001c0001t0048g0151 a0001c0001t0076g0170 a0001c0001t0083g0027 a0001c0001t0088g0090 a0001c0002t0003g0052 a0001c0002t0003g0074 a0001c0002t0003g0144 a0001c0002t0071g0099 a0004c0010t0026g0207 a0008c0027t0078g0082	15	210	0.0714	-58	c.38- others(75): Show c.38-18212_38-18155delGCATCGCCCCCGCTCCTGCCATCCTCCC GCCCCACCCCTGCCTCCCAGCGCCTCTGTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3325997	CCCCCCTT others(51): Show CCCCCCTTGGCCATCCTCGACCATCCTTGGCCCTCCTTGGCCATCCTCGG CCCTCTTGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01081.hp1 others(8): Show HG00438.hp1 HG00673.hp1 HG01081.hp1 HG01169.hp2 HG02132.hp2 HG02300.hp1 HG04204.hp2 NA18943.hp2 NA18950.hp1 NA18970.hp2 NA19004.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0004c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0030 a0001c0001t0031 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0002t0080 a0001c0009t0074 a0004c0010t0026	a0001c0001t0002g0176 a0001c0001t0003g0013 a0001c0001t0005g0184 others(8): Show a0001c0001t0002g0176 a0001c0001t0003g0013 a0001c0001t0005g0184 a0001c0001t0030g0162 a0001c0001t0031g0167 a0001c0002t0001g0095 a0001c0002t0003g0147 a0001c0002t0017g0202 a0001c0002t0080g0076 a0001c0009t0074g0117 a0004c0010t0026g0207	11	210	0.0524	-58	c.439 others(77): Show c.439-59149_439-59092delTTGGCCATCCTCGACCATCCTTGGCC CTCCTTGGCCATCCTCGGCCCTCTTGGCCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151873991	GTATATGA others(51): Show GTATATGATGTATATGTATAAGTATATGTATATGATGTATATGTATATGA TGTATATGT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0144 a0001c0002t0007g0144	1	252	0.0040	-58	c.114 others(75): Show c.114+2458_114+2515delACATATACATCATATACATATACATCAT ATACATATACTTATACATATACATCATATA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2106410	TAGTGGGC others(51): Show TAGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAGGCGACTCTCAGCA AGCCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	286	0.0035	-58	c.335 others(77): Show c.335-28825_335-28768delGCCAGGCCAGGCGACTCTCAGCAAGC CCCTCCAGTGGGCGAGGACCTCCACACGTGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106449	GACTCTCA others(51): Show GACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACCA GGCCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02056.hp2 others(15): Show HG00621.hp1 HG00621.hp2 HG02056.hp2 HG02155.hp1 HG02155.hp2 HG03927.hp2 NA18942.hp1 NA18948.hp2 NA18971.hp2 NA18980.hp2 NA18993.hp2 NA18997.hp1 NA19004.hp2 NA19011.hp1 NA19065.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0082 a0001c0002t0001g0004 a0001c0002t0001g0006 others(15): Show a0001c0001t0001g0082 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0143 a0001c0002t0002g0043 a0001c0002t0004g0144 a0001c0002t0011g0012 a0001c0004t0001g0005 a0001c0004t0001g0008 a0001c0004t0001g0009 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0056 a0001c0004t0001g0145 a0001c0004t0002g0036 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0007t0001g0116	18	286	0.0629	-58	c.335 others(77): Show c.335-28794_335-28737delCAGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106469	AGTGGGCG others(51): Show AGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03704.hp2 NA18968.hp1 HG02809.hp2 HG03704.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0236 a0001c0002t0001g0281 a0001c0003t0001g0155 a0001c0001t0001g0236 a0001c0002t0001g0281 a0001c0003t0001g0155	3	286	0.0105	-58	c.335 others(77): Show c.335-28736_335-28679delTGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106527	GGTGGGCG others(51): Show GGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	286	0.0035	-58	c.335 others(77): Show c.335-28678_335-28621delCAGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106700	CGGTGGGC others(51): Show CGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCA AGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	286	0.0035	-58	c.335 others(77): Show c.335-28543_335-28486delTGCGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCTGGTGGGCGAGGACCTCCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106720	GCGTGTCA others(51): Show GCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGG ACCTCCACA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	286	0.0035	-58	c.335 others(77): Show c.335-28523_335-28466delAACTCTCAGCAAGCCCCTCTGGTGGG CGAGGACCTCCACACGTGTCACCAGGCCAGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	52188225	CATATGTA others(51): Show CATATGTATATATATACATATATATGTGTATATATATACATATGTATATA TATACATAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	64	0.0156	-58	c.107 others(79): Show c.1076+26269_1076+26326delATATATATACATATATATGTGTAT ATATATACATATGTATATATATACATATATATGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRR20G_chr3_127278783_127293046	127280381	AGTAGAAG others(51): Show AGTAGAAGCACCCTGGAAGCAGCCTATTAGCAGACCTTTGCCTGCACAAC CTAAAGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	432	0.0023	-58	c.36 others(69): Show c.3621_*3678delAGGCTTTAGGTTGTGCAGGCAAAGGTCTGCTAAT AGGCTGCTTCCAGGGTGCTTCTAC	PRR20G	ENSG00000239620.3	transcript	ENST00000465482.3	protein_coding		3401		chr3	TogoVar
PRR5L_chr11_36291288_36470204	36351521	TTATATAT others(51): Show TTATATATTTATATAAATATATATTTATATATATTTATATATTTATATAT TTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0041 a0002c0005t0001g0041	1	272	0.0037	-58	c.-12 others(79): Show c.-125-49461_-125-49404delAATATATATTTATATATATTTATA TATTTATATATTTATATAAATATATATTTATATA	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	TATACTGC others(51): Show TATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATT GGTACAATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG02071.hp1 others(21): Show HG00642.hp1 HG01255.hp2 HG02071.hp1 HG02080.hp1 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02717.hp2 HG02738.hp2 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 NA18522.hp1 NA18942.hp1 NA18956.hp1 NA18983.hp1 NA18989.hp1 NA19003.hp1 NA19007.hp2 NA19058.hp1 NA20129.hp2 NA20752.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0007 a0010 a0013 a0025 a0030	a0001c0001 a0001c0004 a0003c0003 others(6): Show a0001c0001 a0001c0004 a0003c0003 a0005c0007 a0007c0008 a0010c0013 a0013c0017 a0025c0051 a0030c0039	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 a0001c0004t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0005c0007t0001 a0007c0008t0010 a0010c0013t0001 a0013c0017t0005 a0025c0051t0033 a0030c0039t0003	a0001c0001t0001g0029 a0001c0001t0003g0060 a0001c0001t0003g0088 others(21): Show a0001c0001t0001g0029 a0001c0001t0003g0060 a0001c0001t0003g0088 a0001c0001t0006g0069 a0001c0004t0001g0214 a0001c0004t0003g0227 a0003c0003t0001g0049 a0003c0003t0001g0085 a0003c0003t0001g0092 a0003c0003t0001g0126 a0003c0003t0001g0128 a0003c0003t0001g0218 a0003c0003t0002g0040 a0003c0003t0003g0164 a0005c0007t0001g0020 a0005c0007t0001g0037 a0005c0007t0001g0077 a0005c0007t0001g0121 a0007c0008t0010g0209 a0010c0013t0001g0041 a0010c0013t0001g0061 a0013c0017t0005g0010 a0025c0051t0033g0032 a0030c0039t0003g0191	24	240	0.1000	-58	c.756 others(77): Show c.756+32366_756+32423delTATTGTACCAATGATAATTGGTGCAG TATTATTGTACCAATGATAATTGGTGCAGTAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76791573	CATTGGTA others(51): Show CATTGGTACAATAATACTGCACCAATTATCATTGGTACAATAATACTGCA CCAATTATT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0231 a0003c0003t0015g0231	1	240	0.0042	-58	c.756 others(77): Show c.756+32001_756+32058delAATAATTGGTGCAGTATTATTGTACC AATGATAATTGGTGCAGTATTATTGTACCAAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PSAPL1_chr4_7425285_7439930	7436956	CCCACTCC others(51): Show CCCACTCCCCTCAGCAGCATTTGAGGAATTCTGATTGCTCCATGTCTGTT TTGTTTCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0018 a0011c0017t0018	a0011c0017t0018g0000 a0011c0017t0018g0000	1	456	0.0022	-58	c.-21 others(69): Show c.-2135_-2078delCCGAAACAAAACAGACATGGAGCAATCAGAATTC CTCAAATGCTGCTGAGGGGAGTGG	PSAPL1	ENSG00000178597.7	transcript	ENST00000319098.7	protein_coding		2027		chr4	TogoVar
PSAPL1_chr4_7425285_7439930	7438610	TCCTTCCT others(51): Show TCCTTCCTTCTGTTCCCTTTCTCCTCTCTCCCTCCCTGCCTCTCTTTTTC CTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	456	0.0022	-58	c.-37 others(69): Show c.-3789_-3732delGGAAGGAAGGAAAAAGAGAGGCAGGGAGGGAGAG AGGAGAAAGGGAACAGAAGGAAGG	PSAPL1	ENSG00000178597.7	transcript	ENST00000319098.7	protein_coding		3681		chr4	TogoVar
PTGFR_chr1_78485974_78545701	78532414	ATATGTGT others(51): Show ATATGTGTGTATATATGTGTATATATTTGTGTGTGTATATGTGTATATAT TTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	386	0.0026	-58	c.799 others(75): Show c.799-3988_799-3931delGTGTGTATATATGTGTATATATTTGTGT GTGTATATGTGTATATATTTGTGTGTGTAT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGS1_chr9_122366024_122400703	122372968	TGGGAGGA others(51): Show TGGGAGGAAGCAGGGGTATAGGGAGCCCAGGGAAGGGAGCAGGGGTGTGC GGAGCTCAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0026 a0003c0024t0026	a0003c0024t0026g0077 a0003c0024t0026g0077	1	332	0.0030	-58	c.94+ others(73): Show c.94+1703_94+1760delAAGCAGGGGTATAGGGAGCCCAGGGAAGGG AGCAGGGGTGTGCGGAGCTCAGGGGAGG	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(51): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA TATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG02615.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0119 a0001c0001t0047g0120 a0001c0001t0047g0119 a0001c0001t0047g0120	2	354	0.0057	-58	c.68 others(67): Show c.683_*740delATATATATATATATATATATATATATATAATATAAT ATATATATATATATATATATTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	683		chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(51): Show AATATATATATATATATATATATTATATTATATATATATATATATATATA TATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0195 a0001c0001t0151g0195	1	354	0.0028	-58	c.68 others(67): Show c.681_*738delATATATATATATATATATATATATATATATAATATA ATATATATATATATATATATAT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	681		chr1	TogoVar
PTPRQ_chr12_80439235_80685273	80677298	GAATTACC others(51): Show GAATTACCTCGAGAAGTAACTTACTAGCAATTTCAGTAGAAATTTTATTG CTTTATAAC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0046 a0007c0010t0002g0046	1	178	0.0056	-58	c.673 others(77): Show c.6739-1301_6739-1244delTTACCTCGAGAAGTAACTTACTAGCA ATTTCAGTAGAAATTTTATTGCTTTATAACAA	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	43/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP4_chr20_33697758_33725310	33724063	TGCCACTG others(51): Show TGCCACTGCACTCCAGCCTGCCAACAGAGCAAGACTTCGTCTCAAAAAGA AAAAAAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	388	0.0026	-58	c.-39 others(69): Show c.-3914_-3857delTCTTTTTTTTCTTTTTGAGACGAAGTCTTGCTCT GTTGGCAGGCTGGAGTGCAGTGGC	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3754		chr20	TogoVar
PXYLP1_chr3_141226825_141299924	141248599	ATATATAC others(51): Show ATATATACACACGTATATATACACACACGTATATATACACACGTGTATAT ATACACACG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	384	0.0026	-58	c.-53 others(77): Show c.-53-11517_-53-11460delCACACGTATATATACACACACGTATA TATACACACGTGTATATATACACACGTATATA	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB40B_chr17_82649973_82703698	82696552	CAAAGCCC others(51): Show CAAAGCCCTGTCCTCCAGGCGCTCAATCTCCAGCCCTGTCCTCCAGGCGC TCAATCTCC	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	338	0.0030	-58	c.142 others(75): Show c.142+1845_142+1902delGGAGATTGAGCGCCTGGAGGACAGGGCT GGAGATTGAGCGCCTGGAGGACAGGGCTTT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB44_chr6_36692826_36738184	36696590	TTCTTTCT others(51): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(123): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0008 a0010 a0013 a0019	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0016 a0002c0005 a0002c0006 a0002c0015 a0002c0026 a0002c0027 a0005c0011 a0008c0017 a0010c0032 a0013c0019 a0019c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0007t0002 a0001c0016t0001 a0002c0005t0001 a0002c0005t0002 a0002c0006t0001 a0002c0006t0004 a0002c0015t0005 a0002c0026t0003 a0002c0027t0001 a0005c0011t0002 a0008c0017t0001 a0010c0032t0001 a0013c0019t0019 a0019c0030t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(108): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0242 a0001c0001t0001g0301 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0130 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0009g0111 a0001c0001t0009g0126 a0001c0002t0001g0142 a0001c0004t0001g0083 a0001c0004t0002g0018 a0001c0004t0002g0302 a0001c0004t0005g0050 a0001c0004t0005g0052 a0001c0004t0005g0084 a0001c0007t0002g0107 a0001c0016t0001g0003 a0001c0016t0001g0023 a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0069 a0002c0005t0001g0078 a0002c0005t0002g0054 a0002c0006t0001g0055 a0002c0006t0001g0058 a0002c0006t0001g0060 a0002c0006t0004g0004 a0002c0006t0004g0014 a0002c0006t0004g0021 a0002c0006t0004g0049 a0002c0006t0004g0053 a0002c0006t0004g0056 a0002c0006t0004g0059 a0002c0006t0004g0061 a0002c0006t0004g0074 a0002c0006t0004g0087 a0002c0015t0005g0051 a0002c0015t0005g0057 a0002c0026t0003g0308 a0002c0027t0001g0016 a0005c0011t0002g0015 a0008c0017t0001g0007 a0008c0017t0001g0019 a0010c0032t0001g0003 a0013c0019t0019g0103 a0019c0030t0001g0141	126	428	0.2944	-58	c.-13 others(69): Show c.-1337_-1280delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1235		chr6	TogoVar
RAPGEF2_chr4_159098079_159365173	159364562	AAAAATCA others(51): Show AAAAATCAATAGAATTTGGTGTCTAATAGCATATAAGAGACTTACTTAAA AGTTAAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	194	0.0052	-58	c.64 others(69): Show c.6424_*6481delAAAATCAATAGAATTTGGTGTCTAATAGCATATA AGAGACTTACTTAAAAGTTAAGCC	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding		4390		chr4	TogoVar
RASA3_chr13_113972783_114137623	114007218	TCCCCTCC others(51): Show TCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCC CTGCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	-58	c.174 others(75): Show c.1742+257_1742+314delGGGCGGCAGGGCAGGAGGGGGGAGAAGG GTAAGGTGGCGTCCGGCAGGGCAGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114072005	GTCTTCTC others(51): Show GTCTTCTCTGATCCCCAAGCCGCTCCTTATAACCCGGTGGAGTCACAGCT ACACGGACA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	-58	c.173 others(75): Show c.173+1657_173+1714delTGTCCGTGTAGCTGTGACTCCACCGGGT TATAAGGAGCGGCTTGGGGATCAGAGAAGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASGRF1_chr15_78954906_79095780	79092267	GACACCAC others(51): Show GACACCACACACATGCCACACACCACACACACACCACACACACACCACAC ACCACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0302 a0001c0003t0001g0302	1	314	0.0032	-58	c.-18 others(69): Show c.-1827_-1770delGTGTGTGGTGTGTGGTGTGTGTGTGGTGTGTGTG TGGTGTGTGGCATGTGTGTGGTGT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding		1488		chr15	TogoVar
RBFOX1_chr16_6014024_7718340	6256159	GTATATAT others(51): Show GTATATATATATGTATATATATATATACGTATATATATGTATATGTATAT GTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp1 HG02622.hp1 others(4): Show HG00609.hp2 HG01261.hp1 HG02622.hp1 HG02735.hp1 HG02965.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022	a0001c0001t0001g0063 a0001c0001t0004g0033 a0001c0001t0004g0057 others(4): Show a0001c0001t0001g0063 a0001c0001t0004g0033 a0001c0001t0004g0057 a0001c0001t0011g0035 a0001c0001t0017g0014 a0001c0001t0018g0052 a0001c0001t0022g0009	7	68	0.1029	-58	c.-12 others(79): Show c.-126-60832_-126-60775delATATATATGTATATATATATATAC GTATATATATGTATATGTATATGTGTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6636762	TATATAAT others(51): Show TATATAATATATAATATATATAATATATAATATATGTTATATATAATATA TAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG03579.hp2 HG02559.hp1 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0042 a0001c0001t0001 a0001c0001t0003 a0001c0001t0042	a0001c0001t0001g0020 a0001c0001t0003g0006 a0001c0001t0042g0022 a0001c0001t0001g0020 a0001c0001t0003g0006 a0001c0001t0042g0022	3	68	0.0441	-58	c.-63 others(77): Show c.-63-17835_-63-17778delATATATAATATATATAATATATAATA TATGTTATATATAATATATAATATATAATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7186259	TATATAAA others(51): Show TATATAAACATAAACATAAACATATTTATATAAATATAAACATAAACATA TTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	68	0.0147	-58	c.27+ others(77): Show c.27+134179_27+134236delAACATATTTATATAAATATAAACATA AACATATTTATATAAATATAAACATAAACATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
REV3L_chr6_111294033_111488218	111422577	CACATATA others(51): Show CACATATATATATATATACACATATATATATATATACACATATATATATA TATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02004.hp1 HG02165.hp2 HG00621.hp1 HG02004.hp1 HG02165.hp2	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0002 a0003c0008 a0012c0029 a0002c0002 a0003c0008 a0012c0029	a0002c0002t0001 a0003c0008t0004 a0012c0029t0001 a0002c0002t0001 a0003c0008t0004 a0012c0029t0001	a0002c0002t0001g0210 a0003c0008t0004g0282 a0012c0029t0001g0148 a0002c0002t0001g0210 a0003c0008t0004g0282 a0012c0029t0001g0148	3	288	0.0104	-58	c.140 others(75): Show c.140-6163_140-6106delATGTGTATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATATGT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111422595	CACATATA others(51): Show CACATATATATATATATACACATATATATATATATACACATATATATATA TATACATAT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18992.hp2 NA19056.hp2 NA18975.hp2 NA18992.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0182 a0002c0002t0001g0244 a0002c0002t0001g0170 a0002c0002t0001g0182 a0002c0002t0001g0244	3	288	0.0104	-58	c.140 others(75): Show c.140-6181_140-6124delATATGTATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATATGT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFX2_chr19_5988164_6115500	6024716	AGTGAGGA others(51): Show AGTGAGGACGGGAGTGAGGACGGGATCACGGTGAGGACGGGAGTGAGGAC GGGATCACG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	308	0.0033	-58	c.597 others(75): Show c.597+1389_597+1446delCGTGATCCCGTCCTCACTCCCGTCCTCA CCGTGATCCCGTCCTCACTCCCGTCCTCAC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17			chr19	TogoVar
RGS13_chr1_192631147_192665311	192641195	AGAAAAAA others(51): Show AGAAAAAAGGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAG AAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02896.hp2 NA18945.hp2 others(2): Show HG01109.hp2 HG02896.hp2 NA18945.hp2 NA19001.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0187 a0001c0001t0003g0188 others(1): Show a0001c0001t0003g0041 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0196	5	420	0.0119	-58	c.-5+ others(73): Show c.-5+2993_-5+3050delGAAAAAAGGAAAGAAAGAAAGAAAGAGAGA AAGAAAGAAAGAAAGAAAGAAAAGAAAG	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6			chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546461	TATATATA others(51): Show TATATATATATATGTGTATATATATATATATATATATATATATATATATA TGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0014 a0001c0001t0024g0014	1	332	0.0030	-58	c.201 others(75): Show c.201+2662_201+2719delGTGTATATATATATATATATATATATAT ATATATATATGTATATACATATATATATAT	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHOXF1_chrX_120104051_120120913	120112416	TATTATAT others(51): Show TATTATATATAATACACATATATTATATATAATACACATATGTATAATAT ATAATACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	320	0.0031	-58	c.444 others(73): Show c.444+395_444+452delGTGTATTATATATTATACATATGTGTATTA TATATAATATATGTGTATTATATATAAT	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding	2/2			chrX	TogoVar
RHPN2_chr19_32973592_33069888	33045976	ATTTGCCA others(51): Show ATTTGCCATGATGTTCTCAAGGTTTATCCAGGTTGTAGCATGTATCAGAA CTTTGTCCG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0225 a0001c0002t0002g0225	1	326	0.0031	-58	c.70- others(73): Show c.70-1670_70-1613delCGGACAAAGTTCTGATACATGCTACAACCT GGATAAACCTTGAGAACATCATGGCAAA	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	1/14			chr19	TogoVar
RILPL1_chr12_123465054_123538719	123521628	TACACACA others(51): Show TACACACATATGTGTATATATATACACATATATGTATATATATAAATATA TATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01099.hp1 others(17): Show HG00408.hp1 HG00621.hp2 HG01099.hp1 HG02015.hp1 HG02055.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03492.hp1 HG03704.hp1 HG03704.hp2 NA18906.hp1 NA18906.hp2 NA19068.hp2 NA19240.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0005c0009t0002	a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 others(17): Show a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0003g0152 a0001c0002t0006g0096 a0001c0002t0006g0135 a0001c0002t0014g0147 a0005c0009t0002g0188	20	210	0.0952	-58	c.460 others(75): Show c.460+1809_460+1866delGTATATATATATATTTATATATATACAT ATATGTGTATATATATACACATATGTGTGT	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130486837	AAGAGCCC others(51): Show AAGAGCCCTTTCTGCCCCGAGACAGCTCCTCCTCTCCCCTGGACCATAAC CAGCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0157 a0001c0005t0009g0157	1	180	0.0056	-58	c.-3- others(73): Show c.-3-7879_-3-7822delGAGGAGCTGGTTATGGTCCAGGGGAGAGGA GGAGCTGTCTCGGGGCAGAAAGGGCTCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130667076	GAAAAAAT others(51): Show GAAAAAATGAGGGAGGGAGGATGGGAGAAAAAAAGGAATGAGGGAGGGAA GGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01069.hp1 others(49): Show HG00099.hp1 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02071.hp1 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp1 NA18964.hp2 NA18979.hp1 NA19010.hp1 NA19030.hp2 NA19064.hp1 NA19084.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0013 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0021 a0001c0027 a0001c0048 a0002c0009 a0002c0010 a0002c0016 a0003c0039 a0003c0040 a0004c0030 a0005c0015 a0007c0018 a0008c0013 a0013c0038 a0018c0037 a0019c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0021t0001 a0001c0027t0001 a0001c0048t0001 a0002c0009t0001 a0002c0010t0001 a0002c0016t0001 a0003c0039t0001 a0003c0040t0001 a0004c0030t0002 a0005c0015t0001 a0007c0018t0001 a0008c0013t0003 a0013c0038t0001 a0018c0037t0001 a0019c0042t0001	a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0083 others(49): Show a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0002g0031 a0001c0001t0002g0084 a0001c0001t0005g0078 a0001c0002t0001g0036 a0001c0002t0001g0049 a0001c0002t0002g0060 a0001c0003t0001g0010 a0001c0003t0001g0058 a0001c0003t0001g0077 a0001c0003t0001g0130 a0001c0003t0001g0154 a0001c0003t0002g0079 a0001c0003t0006g0173 a0001c0004t0001g0121 a0001c0005t0001g0165 a0001c0006t0001g0061 a0001c0006t0001g0073 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0007t0001g0160 a0001c0008t0001g0050 a0001c0008t0001g0070 a0001c0011t0001g0125 a0001c0011t0001g0159 a0001c0021t0001g0043 a0001c0027t0001g0057 a0001c0048t0001g0011 a0002c0009t0001g0128 a0002c0009t0001g0174 a0002c0010t0001g0122 a0002c0010t0001g0172 a0002c0016t0001g0124 a0002c0016t0001g0135 a0003c0039t0001g0132 a0003c0040t0001g0171 a0004c0030t0002g0137 a0005c0015t0001g0066 a0007c0018t0001g0052 a0007c0018t0001g0059 a0008c0013t0003g0141 a0013c0038t0001g0090 a0018c0037t0001g0002 a0019c0042t0001g0120	52	180	0.2889	-58	c.-35 others(79): Show c.-351-38678_-351-38621delTCTCCTTCCTTCCCTCCCTCATTC CTTTTTTTCTCCCATCCTCCCTCCCTCATTTTTT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNASET2_chr6_166917113_166961550	166955250	CACACACG others(51): Show CACACACGCACACACACACACGCGCACACACGACACACACGCACAGACGC GCACACACG	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0230 a0001c0002t0003g0230	1	346	0.0029	-58	c.86+ others(71): Show c.86+789_86+846delCGTGTGTGCGCGTCTGTGCGTGTGTGTCGTGT GTGCGCGTGTGTGTGTGTGCGTGTGT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar

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