Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLEKHA7_chr11_16772297_17019414	17001657	GAGAGGTA others(44): Show GAGAGGTAGCCAGCAGCCCCAGGAAGAGACTGCACACTAACTCCAAGCTA CA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG01257.hp2 others(23): Show HG00639.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01934.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02293.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG03098.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03834.hp1 HG04199.hp2 NA18747.hp1 NA18965.hp1 NA18970.hp1 NA18975.hp1 NA19062.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0008 a0001c0027 others(6): Show a0001c0001 a0001c0008 a0001c0027 a0001c0030 a0001c0031 a0001c0035 a0002c0004 a0002c0007 a0010c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0008t0003 a0001c0027t0005 a0001c0030t0003 a0001c0031t0005 a0001c0035t0014 a0002c0004t0010 a0002c0004t0018 a0002c0007t0003 a0010c0029t0002	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0019 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0012g0007 a0001c0001t0012g0008 a0001c0008t0003g0027 a0001c0027t0005g0022 a0001c0030t0003g0026 a0001c0031t0005g0009 a0001c0035t0014g0002 a0002c0004t0010g0242 a0002c0004t0010g0243 a0002c0004t0018g0241 a0002c0007t0003g0188 a0010c0029t0002g0010	26	244	0.1066	-51	c.221 others(70): Show c.221+12281_221+12331delTGTAGCTTGGAGTTAGTGTGCAGTCT CTTCCTGGGGCTGCTGGCTACCTCT		PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26						chr11	TogoVar
PLEKHG1_chr6_150594885_150848665	150810492	GAAGGAGG others(44): Show GAAGGAGGGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGGAA GA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	272	0.0037	-51	c.127 others(68): Show c.1278+764_1278+814delGGGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGGAAGAAAGGA		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44796034	ATAAAAAT others(44): Show ATAAAAATATATAACAATATATAAATATATAAATATATAACAATATATAA AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	-51	c.-44 others(62): Show c.-4429_-4379delTAAAAATATATAACAATATATAAATATATAAATA TATAACAATATATAAAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					4342		chr1	TogoVar
PLK5_chr19_1519077_1541046	1528488	ACCTCCCA others(44): Show ACCTCCCACCTGCCCACGCCTCCCACCTGCCCACACCTCCCACCTGCCCA CG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp1 HG01258.hp2 others(16): Show HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG02109.hp2 HG02451.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0004c0017 a0006c0007 a0007c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0059 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0059 a0003c0003t0007 a0003c0003t0044 a0004c0004t0045 a0004c0017t0069 a0006c0007t0008 a0007c0009t0001	a0001c0001t0001g0017 a0001c0001t0008g0009 a0001c0001t0008g0023 others(12): Show a0001c0001t0001g0017 a0001c0001t0008g0009 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0059g0142 a0003c0003t0007g0063 a0003c0003t0044g0139 a0004c0004t0045g0136 a0004c0017t0069g0191 a0006c0007t0008g0023 a0006c0007t0008g0137 a0006c0007t0008g0138 a0007c0009t0001g0017 a0007c0009t0001g0064 a0007c0009t0001g0121	19	430	0.0442	-51	c.328 others(65): Show c.328+94_328+144delACCTCCCACCTGCCCACGCCTCCCACCTGCC CACGCCTCCCACCTGCCCAC		PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
PODXL2_chr3_127624185_127677802	127655620	CAGCTGAT others(44): Show CAGCTGATAAGCAGTGAAACTGAGACCACACTGTAAAAAGAAAAGGAATA AT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	402	0.0025	-51	c.350 others(68): Show c.350-4757_350-4707delAGCTGATAAGCAGTGAAACTGAGACCAC ACTGTAAAAAGAAAAGGAATAAT		PODXL2	ENSG00000114631.11	transcript	ENST00000342480.7	protein_coding	2/7						chr3	TogoVar
PPARGC1A_chr4_23787021_23895047	23797910	GATGGCCG others(44): Show GATGGCCGGTTCCTGCCTTAACTGATGACATTCCACAACGAAAGAAGTGA AA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	342	0.0029	-51	c.229 others(70): Show c.2294-2036_2294-1986delTTTCACTTCTTTCGTTGTGGAATGTC ATCAGTTAAGGCAGGAACCGGCCAT		PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	12/12						chr4	TogoVar
PPP1R16B_chr20_38800697_38928024	38896104	TCCCCTCC others(44): Show TCCCCTCCCTTCCTTCTTTCTTCCCTTCCTCCCTCCTTTCCTTCTTTCTT CC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00738.hp2 others(34): Show HG00544.hp1 HG00597.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01496.hp2 HG01943.hp2 HG01993.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG03017.hp2 HG03225.hp2 HG03710.hp1 HG06807.hp1 NA18747.hp1 NA18950.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18988.hp2 NA18994.hp1 NA18998.hp2 NA19054.hp2 NA19062.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0011	a0001c0001t0001 a0001c0002t0002 a0001c0002t0015 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0005t0002 a0002c0011t0002	a0001c0001t0001g0049 a0001c0001t0001g0218 a0001c0002t0002g0024 others(34): Show a0001c0001t0001g0049 a0001c0001t0001g0218 a0001c0002t0002g0024 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0068 a0001c0002t0002g0072 a0001c0002t0002g0081 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0107 a0001c0002t0002g0134 a0001c0002t0002g0144 a0001c0002t0002g0147 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0173 a0001c0002t0002g0186 a0001c0002t0002g0190 a0001c0002t0002g0193 a0001c0002t0002g0213 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0015g0063 a0001c0002t0017g0158 a0001c0002t0018g0160 a0001c0005t0002g0076 a0002c0011t0002g0139	37	244	0.1516	-51	c.467 others(66): Show c.467+395_467+445delCCCCTCCCTTCCTTCTTTCTTCCCTTCCTC CCTCCTTTCCTTCTTTCTTCC		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10						chr20	TogoVar
PPP2R2D_chr10_131896008_131964834	131939638	CATTCAGC others(44): Show CATTCAGCAGACCTGCTCCAGAAAACACAGCAGGCTACATTCGACAGGCT GA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	394	0.0025	-51	c.199 others(66): Show c.199-388_199-338delAGCAGACCTGCTCCAGAAAACACAGCAGGC TACATTCGACAGGCTGAATTC		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP3CA_chr4_101018418_101352526	101106445	GAAAGAAA others(44): Show GAAAGAAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG01975.hp1 others(10): Show HG01175.hp2 HG01192.hp1 HG01975.hp1 HG02055.hp1 HG02451.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03471.hp2 NA18522.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0017 a0001c0001t0022 a0001c0001t0039 others(7): Show a0001c0001t0017 a0001c0001t0022 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0048 a0001c0001t0068 a0001c0002t0007 a0001c0002t0024 a0001c0003t0040	a0001c0001t0017g0043 a0001c0001t0017g0044 a0001c0001t0022g0091 others(10): Show a0001c0001t0017g0043 a0001c0001t0017g0044 a0001c0001t0022g0091 a0001c0001t0039g0032 a0001c0001t0041g0049 a0001c0001t0043g0019 a0001c0001t0048g0033 a0001c0001t0068g0118 a0001c0002t0007g0087 a0001c0002t0007g0088 a0001c0002t0024g0133 a0001c0002t0024g0135 a0001c0003t0040g0020	13	192	0.0677	-51	c.384 others(68): Show c.384+2458_384+2508delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTCTTTCTTT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13						chr4	TogoVar
PRDM15_chr21_41793225_41884344	41806123	CCATCACC others(44): Show CCATCACCACCACCATCACCACCACCACCACCATCACCATCACCACCACC AT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0010 a0001c0011t0010	a0001c0011t0010g0300 a0001c0011t0010g0300	1	406	0.0025	-51	c.265 others(70): Show c.2653-1560_2653-1510delATGGTGGTGGTGATGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGATG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDX3_chr10_119162720_119183812	119181968	GCTGGCCG others(44): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACTGGGC GA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01069.hp2 others(7): Show HG00140.hp1 HG00642.hp1 HG01069.hp2 HG01243.hp2 HG02523.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG04199.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0002g0068 a0001c0001t0003g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0068 a0001c0001t0003g0003 a0001c0001t0003g0092 a0001c0002t0003g0027	10	426	0.0235	-51	c.-32 others(62): Show c.-3229_-3179delTCGCCCAGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCGCCCGGCCAG		PRDX3	ENSG00000165672.7	transcript	ENST00000298510.4	protein_coding					3157		chr10	TogoVar
PRH2_chr12_10924236_10939845	10930830	AGCCACAA others(44): Show AGCCACAAGGACCACCCCAACAGGGAGGCCATCCCCCTCCTCCTCAAGGA AG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0001 a0006c0006t0001g0001	1	387	0.0026	-51	c.305 others(58): Show c.305_355delCTCCTCCTCAAGGAAGGCCACAAGGACCACCCCAACAG GGAGGCCATCCCC	p.Pro others(13): Show p.Pro102_Pro118del	PRH2	ENSG00000134551.13	transcript	ENST00000396400.4	protein_coding	3/4	343/3177	305/501	102/166		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRKCA_chr17_66297613_66815743	66799532	GTGGTGGT others(44): Show GTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0007 a0001c0002 a0001c0003 a0003c0007	a0001c0002t0009 a0001c0002t0014 a0001c0002t0050 others(5): Show a0001c0002t0009 a0001c0002t0014 a0001c0002t0050 a0001c0002t0051 a0001c0002t0064 a0001c0002t0076 a0001c0003t0082 a0003c0007t0003	a0001c0002t0009g0110 a0001c0002t0014g0041 a0001c0002t0014g0051 others(7): Show a0001c0002t0009g0110 a0001c0002t0014g0041 a0001c0002t0014g0051 a0001c0002t0014g0066 a0001c0002t0050g0034 a0001c0002t0051g0099 a0001c0002t0064g0038 a0001c0002t0076g0032 a0001c0003t0082g0131 a0003c0007t0003g0018	10	178	0.0562	-51	c.185 others(70): Show c.1855-4333_1855-4283delAGTGACGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCE_chr2_45646675_46192990	45744449	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00738.hp2 others(8): Show HG00438.hp2 HG00609.hp1 HG00738.hp2 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG02818.hp1 HG06807.hp1 NA18959.hp1 NA19030.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0006 a0001c0003t0015 a0002c0004t0004	a0001c0001t0001g0140 a0001c0001t0002g0002 a0001c0001t0002g0050 others(8): Show a0001c0001t0001g0140 a0001c0001t0002g0002 a0001c0001t0002g0050 a0001c0001t0002g0110 a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0002t0001g0121 a0001c0002t0001g0136 a0001c0002t0006g0153 a0001c0003t0015g0134 a0002c0004t0004g0052	11	168	0.0655	-51	c.348 others(70): Show c.348+92029_348+92079delCTTTCTTTCTTTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTTCTTTCTTT		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2123858	TTAGGGTC others(44): Show TTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCG GC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	286	0.0035	-51	c.335 others(70): Show c.335-11403_335-11353delTAGGGTCACGGTGGCGGTTAGGGTCA CGGCGGCGGTTAGGGTCACGGCGGC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKG1_chr10_51069487_52303350	52068969	ACCAAACC others(44): Show ACCAAACCACTGTCAGCAAGGAACTTCCCTCCAAGAACTTTCCCAGCTGT TG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02965.hp2 HG00639.hp2 HG01243.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0002t0003g0030 a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0002t0003g0030	3	64	0.0469	-51	c.935 others(68): Show c.935+6341_935+6391delAAACCACTGTCAGCAAGGAACTTCCCTC CAAGAACTTTCCCAGCTGTTGCC		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPSAP2_chr17_18853131_18936287	18888617	ACCTCCCG others(44): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TC	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18975.hp2 NA18979.hp1 others(1): Show NA18939.hp1 NA18975.hp2 NA18979.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0228 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248	4	392	0.0102	-51	c.529 others(68): Show c.529-1126_529-1076delAGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC		PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
PSD3_chr8_18522303_19018703	18865244	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT TT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG02897.hp2 others(4): Show HG02572.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03516.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0028 a0001c0001t0052 a0001c0001t0072 a0001c0002t0010	a0001c0001t0002g0149 a0001c0001t0003g0136 a0001c0001t0017g0150 others(4): Show a0001c0001t0002g0149 a0001c0001t0003g0136 a0001c0001t0017g0150 a0001c0001t0028g0040 a0001c0001t0052g0203 a0001c0001t0072g0188 a0001c0002t0010g0039	7	228	0.0307	-51	c.163 others(70): Show c.1634+2379_1634+2429delAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18865246	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0159 a0001c0001t0043g0159	1	228	0.0044	-51	c.163 others(70): Show c.1634+2377_1634+2427delAAAAAAAAAAATATATATATATATAT ATATATATATATATATATATATATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15						chr8	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	TTATATTA others(44): Show TTATATTATATATATATATATATATATATATATATATATATATATATATA TA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0249 a0001c0001t0096g0249	1	354	0.0028	-51	c.66 others(60): Show c.666_*716delTATATATATATATATATATATATATATATATATATA TATATATATAATATA		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				666		chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141429972	CGTCCCCG others(44): Show CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCT GG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02818.hp1 others(7): Show HG02572.hp1 HG02622.hp1 HG02818.hp1 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03516.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0031 others(1): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0031 a0001c0001t0038	a0001c0001t0007g0022 a0001c0001t0007g0045 a0001c0001t0007g0051 others(7): Show a0001c0001t0007g0022 a0001c0001t0007g0045 a0001c0001t0007g0051 a0001c0001t0007g0067 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0014g0033 a0001c0001t0014g0283 a0001c0001t0031g0069 a0001c0001t0038g0054	10	323	0.0310	-51	c.405 others(66): Show c.405-906_405-856delTGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGACAGGGTGAGCGCACAGTC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430115	GTACAGCC others(44): Show GTACAGCCCAGGTTTCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03540.hp1 NA20752.hp2 HG01192.hp2 HG03540.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126	3	323	0.0093	-51	c.405 others(66): Show c.405-811_405-761delTACAGCCCAGGTTTCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCA		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5						chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430175	GGGTCCCC others(44): Show GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCATAGCC CA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19077.hp2 NA19066.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0138 a0001c0001t0003g0132 a0001c0001t0003g0138	2	323	0.0062	-51	c.405 others(66): Show c.405-726_405-676delCGGGGACAGGGTGAGCGCATAGCCCAGGTC CCCGCTGTAAGGACCAGGTGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN9_chr15_75458251_75584315	75503819	CCCGCCCG others(44): Show CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGAGGGGGGGTCAGCC CT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18952.hp2 HG04199.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0160 a0001c0001t0010g0011 a0001c0001t0001g0160 a0001c0001t0010g0011	2	326	0.0061	-51	c.968 others(68): Show c.968+1805_968+1855delAGGGCTGACCCCCCCTCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PUF60_chr8_143811344_143834315	143823170	TCACCCTC others(44): Show TCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGTCTTC AC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0039 a0001c0006t0001g0039	1	397	0.0025	-51	c.111 others(68): Show c.111+1092_111+1142delGTGAAGACAGGCCTAGTGTGAGCCGGAC TGGGGCACCTGGTGCTGAGGGTG		PUF60	ENSG00000179950.15	transcript	ENST00000526683.6	protein_coding	2/11						chr8	TogoVar
PUF60_chr8_143811344_143834315	143823217	TTCACCAC others(44): Show TTCACCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGT CC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02257.hp2 HG02647.hp1 others(2): Show HG01346.hp1 HG02257.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0020 a0001c0001t0001g0051	5	397	0.0126	-51	c.111 others(68): Show c.111+1045_111+1095delGGACAGGCCTAGTGTGAGCCGGACTGGG GCACCTGGTGCTGAGGGTGGTGA		PUF60	ENSG00000179950.15	transcript	ENST00000526683.6	protein_coding	2/11						chr8	TogoVar
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(44): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGG AG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0027 a0001c0002t0015g0027	1	334	0.0030	-51	c.150 others(70): Show c.1506+2340_1506+2390delCTCCCCTCCCCTCCCCTCCCCTCCCC TTCCCTTCCCTTCCCTTCTTTTCTT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PXMP4_chr20_33697758_33725310	33699397	TGGGAGGG others(44): Show TGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCTCCCTGT CC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	388	0.0026	-51	c.82 others(62): Show c.8258_*8308delGGACAGGGAGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCACCTCCCTCCC		PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding					3360		chr20	TogoVar
RAB1A_chr2_65081854_65135106	65097022	CAGAGACA others(44): Show CAGAGACACAAACCCATGATTCTCTAACAGGTAAATACTAGAACCAAGAC AA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0013 a0001c0001t0002g0018	2	340	0.0059	-51	c.192 others(66): Show c.192+898_192+948delTTGTCTTGGTTCTAGTATTTACCTGTTAGA GAATCATGGGTTTGTGTCTCT		RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	3/5						chr2	TogoVar
RAB2A_chr8_60511987_60628644	60587436	CCTGTTTT others(44): Show CCTGTTTTGGCAAACATTTCTTAAATGGGACAGAGAAAAGCATGAACTTA TA	C C	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	358	0.0028	-51	c.362 others(68): Show c.362+2622_362+2672delCTGTTTTGGCAAACATTTCTTAAATGGG ACAGAGAAAAGCATGAACTTATA		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	5/7						chr8	TogoVar
RAB40C_chr16_585066_634268	617440	GTCTGGGA others(44): Show GTCTGGGACACTGTGTCCCTAGAGATCGCGGCTCCCCTCCTGCCCCGGAA AA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	350	0.0029	-51	c.203 others(66): Show c.203+173_203+223delTCTGGGACACTGTGTCCCTAGAGATCGCGG CTCCCCTCCTGCCCCGGAAAA		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	2/5						chr16	TogoVar
RAB44_chr6_36692826_36738184	36734319	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0341 a0001c0002t0003g0341	1	428	0.0023	-51	c.22 others(62): Show c.2227_*2277delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA		RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding					1136		chr6	TogoVar
RAB44_chr6_36692826_36738184	36734321	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0324 a0001c0002t0003g0324	1	428	0.0023	-51	c.22 others(62): Show c.2229_*2279delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA		RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding					1138		chr6	TogoVar
RAD9B_chr12_110497331_110538556	110507504	TAAATATA others(44): Show TAAATATAATACATAATATATGTATTAAATATAATACATAATATATGTAT TA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	284	0.0035	-51	c.388 others(66): Show c.388+814_388+864delATATAATACATAATATATGTATTAAATATA ATACATAATATATGTATTAAA		RAD9B	ENSG00000151164.19	transcript	ENST00000409300.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
RASA3_chr13_113972783_114137623	114044465	CCCGCCTC others(44): Show CCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCC CG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	67	0.0149	-51	c.278 others(68): Show c.278-3422_278-3372delCGGGGGAGCTCAGCGAGTGAGGCGGGGC GGGGGGCTCAGCGAGTGAGGCGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114117210	GTGCACGT others(44): Show GTGCACGTGTGTGAGGGGTGCATGTGTGTGAGGGGTGCACGTGTGTGAGG GA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0015 a0001c0005t0001g0016	2	67	0.0299	-51	c.55+ others(68): Show c.55+15174_55+15224delTCCCTCACACACGTGCACCCCTCACACA CATGCACCCCTCACACACGTGCA		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASGRF1_chr15_78954906_79095780	78989448	CCTAACAT others(44): Show CCTAACATTAAAGAGAATGTTTAATTAAACATTCGCTCAGCACTGTGGCC TT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03579.hp1 others(1): Show HG01167.hp1 HG01169.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0101 a0001c0002t0003g0102 others(1): Show a0001c0002t0003g0050 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0303	4	314	0.0127	-51	c.321 others(68): Show c.3216+690_3216+740delAAGGCCACAGTGCTGAGCGAATGTTTAA TTAAACATTCTCTTTAATGTTAG		RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	22/26						chr15	TogoVar
RBBP4_chr1_32646208_32691211	32691160	GTGAGCCC others(44): Show GTGAGCCCAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAC TC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(35): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01123.hp1 HG01168.hp2 HG01261.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02132.hp1 HG02293.hp2 HG03669.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18961.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0053 a0001c0001t0054	a0001c0001t0002g0176 a0001c0001t0004g0001 a0001c0001t0004g0005 others(23): Show a0001c0001t0002g0176 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0242 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0007g0005 a0001c0001t0007g0022 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0254 a0001c0001t0053g0249 a0001c0001t0054g0256	38	312	0.1218	-51	c.11 others(64): Show c.11456_*11506delTGAGCCCAGATCATGCCACTGCACTCCAGCCT GGGTGACAGAGCGAGACTC		RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding					4950		chr1	TogoVar
RBBP7_chrX_16839341_16875362	16875051	CCTTCTTG others(44): Show CCTTCTTGGAATATGAGTTCTATAGATTCATGCTGGTGAAACACCTGGAG GT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	316	0.0032	-51	c.-50 others(62): Show c.-5049_-4999delACCTCCAGGTGTTTCACCAGCATGAATCTATAGA ACTCATATTCCAAGAAG		RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding					4690		chrX	TogoVar
RBBP8NL_chr20_62405237_62432539	62417459	TCCCAGTC others(44): Show TCCCAGTCATCTGCACGCTCCTCTGTGACGTCTGTCCCGTCCACGCAGCC CC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03225.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0142 a0001c0001t0004g0036 a0001c0001t0004g0142	3	432	0.0069	-51	c.105 others(66): Show c.105-191_105-141delGGGGCTGCGTGGACGGGACAGACGTCACAG AGGAGCGTGCAGATGACTGGG		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13						chr20	TogoVar
RBFOX2_chr22_35733736_36033824	35735122	ACGGATCC others(44): Show ACGGATCCAGGCTCAGAAAGCATTCCACCTGTCTGAAACTGTGCGAGACC CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0096 a0001c0001t0009g0096	1	120	0.0083	-51	c.90 others(62): Show c.9032_*9082delCGGGTCTCGCACAGTTTCAGACAGGTGGAATGCT TTCTGAGCCTGGATCCG		RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding					3613		chr22	TogoVar
RBM26_chr13_79313868_79411255	79372814	TTTATAAT others(44): Show TTTATAATAAATATTTTATATAAATATATTATATATTATATAAATATAAA TA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02451.hp1 HG02486.hp2 others(6): Show HG01981.hp1 HG02451.hp1 HG02486.hp2 HG02723.hp2 HG03098.hp1 HG03130.hp1 HG03540.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0023 a0001c0002t0003 a0001c0002t0008 a0001c0002t0023	a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0188 others(6): Show a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0008g0186 a0001c0002t0023g0185	9	328	0.0274	-51	c.328 others(66): Show c.328-935_328-885delTATTTATATTTATATAATATATAATATATT TATATAAAATATTTATTATAA		RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21						chr13	TogoVar
RBM5_chr3_50083919_50124021	50112395	GACGGAGC others(44): Show GACGGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	284	0.0035	-51	c.145 others(68): Show c.1456-987_1456-937delACGGAGCGAGACTCTGTCTAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGT		RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding	17/24						chr3	TogoVar
RCHY1_chr4_75474033_75519403	75487745	ATATATAT others(44): Show ATATATATTCATAATATATATATTCATATATATATTCATAATATATATAT TC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0061 a0001c0001t0024g0061	1	406	0.0025	-51	c.657 others(68): Show c.657+2785_657+2835delGAATATATATATTATGAATATATATATG AATATATATATTATGAATATATA		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8						chr4	TogoVar
REEP6_chr19_1486181_1502927	1499373	ACCCCCCA others(44): Show ACCCCCCAACCTCCCTCCCGGACGGGGGCGGCTGGCCGGGCGGGGGGCTG AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	318	0.0031	-51	c.21 others(62): Show c.2163_*2213delCCCCCCAACCTCCCTCCCGGACGGGGGCGGCTGG CCGGGCGGGGGGCTGAC		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					1447		chr19	TogoVar
RGCC_chr13_41452550_41475871	41474128	CCAGCATC others(44): Show CCAGCATCATTTATTGAAGAGACTGTCCTTTCCCCAGTGTATGTTCTTGC CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	448	0.0022	-51	c.36 others(62): Show c.3644_*3694delCAGCATCATTTATTGAAGAGACTGTCCTTTCCCC AGTGTATGTTCTTGCCA		RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding					3258		chr13	TogoVar
RGPD2_chr2_87750960_87830796	87825508	CCGAGGCC others(44): Show CCGAGGCCGCCGCCCGGCCGAGGCCGAGGCCGAGGCCGCCGCCCGGCCAG GT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01106.hp1 others(12): Show HG00423.hp1 HG00639.hp2 HG01106.hp1 HG01257.hp1 HG01515.hp2 HG02080.hp2 HG02451.hp2 HG02559.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp1 HG04204.hp1 NA18980.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0014 a0010c0025	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0001 a0002c0014t0001 a0010c0025t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(11): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0002t0002g0139 a0001c0002t0002g0148 a0001c0002t0004g0001 a0001c0002t0004g0174 a0002c0003t0001g0141 a0002c0014t0001g0150 a0010c0025t0001g0140	15	176	0.0852	-51	c.72+ others(63): Show c.72+99_72+149delACCTGGCCGGGCGGCGGCCTCGGCCTCGGCCTC GGCCGGGCGGCGGCCTCG		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22						chr2	TogoVar
RGPD2_chr2_87750960_87830796	87825527	GAGGCCGA others(44): Show GAGGCCGAGGCCGAGGCCGCCGCCCGGCCAGGTCGAGGCCGCCGCCCGGC CA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0006 a0001c0002t0007g0006	1	176	0.0057	-51	c.72+ others(63): Show c.72+80_72+130delTGGCCGGGCGGCGGCCTCGACCTGGCCGGGCGG CGGCCTCGGCCTCGGCCT		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22						chr2	TogoVar
RGS1_chr1_192570773_192585024	192584133	GAAGATTC others(44): Show GAAGATTCAGAGAGAAAATATAGTCTACTCCGAAAAGAGTGAATTTTTAT CT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	492	0.0020	-51	c.48 others(62): Show c.4812_*4862delAAGATTCAGAGAGAAAATATAGTCTACTCCGAAA AGAGTGAATTTTTATCT		RGS1	ENSG00000090104.12	transcript	ENST00000367459.8	protein_coding					4110		chr1	TogoVar
RHOT2_chr16_663132_679171	665284	AGGGACGC others(44): Show AGGGACGCACGGCCACACTCCTGTCTTTCAGCCTCAGTCTGCAGCCTGCT AG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	380	0.0026	-51	c.-29 others(62): Show c.-2915_-2865delGGGACGCACGGCCACACTCCTGTCTTTCAGCCTC AGTCTGCAGCCTGCTAG		RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding					2847		chr16	TogoVar