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
RBFOX1_chr16_6014024_7718340	6487683	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02965.hp2 HG02559.hp2 HG02630.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0027 a0001c0001t0003 a0001c0001t0006 a0001c0001t0027	a0001c0001t0003g0041 a0001c0001t0006g0038 a0001c0001t0027g0042 a0001c0001t0003g0041 a0001c0001t0006g0038 a0001c0001t0027g0042	3	68	0.0441	-43	c.-63 others(64): Show c.-63-166918_-63-166876delAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6487685	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01192.hp2 others(4): Show HG00140.hp1 HG00140.hp2 HG01192.hp2 HG02451.hp2 HG02630.hp1 HG03490.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0031 a0001c0001t0033	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0003g0010 others(4): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0003g0010 a0001c0001t0007g0039 a0001c0001t0013g0018 a0001c0001t0031g0056 a0001c0001t0033g0027	7	68	0.1029	-43	c.-63 others(64): Show c.-63-166916_-63-166874delAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6487687	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	68	0.0147	-43	c.-63 others(64): Show c.-63-166914_-63-166872delAAAAAAAAAAAAATATATATATAT ATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79198057	GTCGTGTG others(36): Show GTCGTGTGGGGTGGGCTTGTCATCCCGGAAGTGCTACGGTTGCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0143 a0001c0001t0025g0143	1	154	0.0065	-43	c.-34 others(62): Show c.-34+37666_-34+37708delTGCAACCGTAGCACTTCCGGGATGAC AAGCCCACCCCACACGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79484481	CCTGGGTG others(36): Show CCTGGGTGCAGGGGCCTGGGTGCAGGGGGCCTGGGTGCAGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	154	0.0065	-43	c.-31 others(62): Show c.-319-1926_-319-1884delCCCCCTGCACCCAGGCCCCCTGCACC CAGGCCCCTGCACCCAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79484491	GGGGCCTG others(36): Show GGGGCCTGGGTGCAGGGGGCCTGGGTGCAGGGGGCCTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01070.hp2 others(9): Show HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01261.hp1 HG02004.hp1 HG02683.hp1 HG03453.hp2 HG03710.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0002t0004 a0001c0003t0004	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0065 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0002g0114 a0001c0001t0003g0040 a0001c0001t0003g0061 a0001c0001t0003g0083 a0001c0001t0005g0147 a0001c0001t0007g0009 a0001c0001t0010g0006 a0001c0002t0004g0126 a0001c0003t0004g0151	12	154	0.0779	-43	c.-31 others(62): Show c.-319-1936_-319-1894delTGCACCCAGGCCCCCTGCACCCAGGC CCCCTGCACCCAGGCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM24_chr6_17276361_17298871	17294525	CCCGCCTC others(36): Show CCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02717.hp2 HG02896.hp1 HG02897.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	4	442	0.0091	-43	c.24 others(54): Show c.2407_*2449delCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		655		chr6	TogoVar
RBM25_chr14_73053534_73128899	73083560	TTTTTTTC others(36): Show TTTTTTTCCTTATTTGCTGAAATCACTTTAACTAACCTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0196 a0001c0001t0014g0196	1	388	0.0026	-43	c.382 others(56): Show c.382+12_382+54delTTTTCCTTATTTGCTGAAATCACTTTAACTAA CCTGTGTGCTT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM48_chr7_92523795_92545481	92539874	ATTTTAAA others(36): Show ATTTTAAAAACATTGACAGCAATTGTATTGAAAGAGATCAAGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0017 a0001c0001t0030g0017	1	396	0.0025	-43	c.29 others(54): Show c.2940_*2982delTTAAAAACATTGACAGCAATTGTATTGAAAGAGA TCAAGTGTT	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding	5/5	2940	INFO_REALIGN_3_PRIME	chr7	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0055 a0001c0001t0019g0056 a0001c0001t0019g0055 a0001c0001t0019g0056	2	116	0.0172	-43	c.638 others(62): Show c.638-48658_638-48616delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RELL1_chr4_37605634_37691376	37669191	GGTCAGCC others(36): Show GGTCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0069	1	324	0.0031	-43	c.88+ others(60): Show c.88+16966_88+17008delACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGGGGGCTGAC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
REPS1_chr6_138898493_138993253	138911653	CAGATGTG others(36): Show CAGATGTGTGAGGGAGAGGAGGATGGGGCGAGGATGCAGGTAAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02145.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0378 a0001c0002t0003g0379 a0001c0002t0003g0378 a0001c0002t0003g0379	2	390	0.0051	-43	c.197 others(60): Show c.1972-325_1972-283delATTACCTGCATCCTCGCCCCATCCTCCT CTCCCTCACACATCT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	16/19			chr6	TogoVar
RFTN1_chr3_16310845_16518699	16403932	ATTTATAT others(36): Show ATTTATATATAATATATAATATATATTTTATATATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp1 others(73): Show HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18968.hp1 NA18970.hp1 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18987.hp1 NA18994.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19079.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0002c0003 a0003c0007 a0006c0012 a0007c0011	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0013t0001 a0002c0003t0003 a0002c0003t0010 a0003c0007t0002 a0006c0012t0001 a0007c0011t0002	a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0068 others(73): Show a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0002t0002g0009 a0001c0002t0002g0024 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0138 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0179 a0001c0002t0002g0184 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0227 a0001c0002t0002g0255 a0001c0002t0002g0260 a0001c0002t0002g0266 a0001c0005t0001g0159 a0001c0013t0001g0018 a0002c0003t0003g0011 a0002c0003t0003g0040 a0002c0003t0003g0043 a0002c0003t0003g0045 a0002c0003t0003g0047 a0002c0003t0003g0177 a0002c0003t0010g0247 a0003c0007t0002g0242 a0006c0012t0001g0223 a0007c0011t0002g0146	76	268	0.2836	-43	c.441 others(60): Show c.441+5400_441+5442delATATAATATATATATAAAATATATATTA TATATTATATATAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFX2_chr19_5988164_6115500	6061996	ACAACAAC others(36): Show ACAACAACAACAAACTGGGGGCCGGGGAAGGTGGCTGATGTCTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	308	0.0033	-43	c.-8- others(60): Show c.-8-14535_-8-14493delCAGACATCAGCCACCTTCCCCGGCCCCC AGTTTGTTGTTGTTG	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RGPD2_chr2_87750960_87830796	87824751	CGCCGCCG others(36): Show CGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGAGGCCGAG	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	176	0.0057	-43	c.72+ others(56): Show c.72+864_72+906delCTCGGCCTCGGCCTCGGCCTGGCCGGGCGGCG GCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD2_chr2_87750960_87830796	87825367	CGCCGAGG others(36): Show CGCCGAGGCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0150 a0002c0014t0001g0150	1	176	0.0057	-43	c.72+ others(56): Show c.72+248_72+290delCTCGGCCTGGCCGGGCGGCGGCGGCGGCGGCG GCGGCCTCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS17_chr6_152999459_153136282	153054049	ATGTATAT others(36): Show ATGTATATAATATATATACATATATATATACACACAATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 NA19001.hp1 HG02615.hp2 HG03453.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0107 a0001c0001t0005g0160 a0001c0001t0006g0009 a0001c0001t0001g0107 a0001c0001t0005g0160 a0001c0001t0006g0009	3	338	0.0089	-43	c.-25 others(62): Show c.-25-10049_-25-10007delAAAAATATTGTGTGTATATATATATG TATATATATTATATACA	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS6_chr14_71927429_72571530	72465430	GTCATGAG others(36): Show GTCATGAGGTCCACTTAGAAAACATATTTTTCCCAGGACAGTGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(59): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG04184.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18961.hp2 NA18974.hp1 NA18983.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0002t0015 a0001c0003t0001 a0001c0003t0022 a0001c0005t0007	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(59): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0003g0018 a0001c0001t0003g0042 a0001c0001t0003g0066 a0001c0001t0003g0085 a0001c0001t0003g0101 a0001c0001t0003g0129 a0001c0001t0004g0089 a0001c0001t0004g0117 a0001c0001t0005g0001 a0001c0001t0005g0108 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0011g0017 a0001c0001t0011g0055 a0001c0001t0011g0118 a0001c0001t0012g0105 a0001c0001t0012g0123 a0001c0001t0014g0002 a0001c0001t0014g0029 a0001c0001t0014g0057 a0001c0001t0016g0010 a0001c0001t0016g0126 a0001c0001t0017g0103 a0001c0001t0019g0102 a0001c0001t0020g0051 a0001c0001t0020g0120 a0001c0001t0021g0079 a0001c0001t0022g0080 a0001c0001t0023g0030 a0001c0001t0024g0090 a0001c0001t0024g0099 a0001c0001t0025g0026 a0001c0001t0026g0021 a0001c0001t0033g0061 a0001c0001t0034g0087 a0001c0001t0037g0053 a0001c0001t0038g0060 a0001c0001t0041g0094 a0001c0001t0042g0093 a0001c0002t0015g0130 a0001c0003t0001g0109 a0001c0003t0022g0050 a0001c0005t0007g0100	62	130	0.4769	-43	c.395 others(58): Show c.395-283_395-241delCATGAGGTCCACTTAGAAAACATATTTTTC CCAGGACAGTGCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGSL1_chr1_182445146_182565597	182446816	TATATATA others(36): Show TATATATATGACATATACATTTAATTTTTAAAATTAAATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	338	0.0030	-43	c.-33 others(54): Show c.-3349_-3307delATATATATGACATATACATTTAATTTTTAAAATT AAATATATG	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		3329		chr1	TogoVar
RHOC_chr1_112696131_112712127	112706422	TCTCTCTC others(36): Show TCTCTCTCTACACACACACACACACACACACACACACACACACC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	428	0.0023	-43	c.-77 others(58): Show c.-77+613_-77+655delGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTAGAGAGAG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706426	TCTCTACA others(36): Show TCTCTACACACACACACACACACACACACACACACACACCACAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	428	0.0023	-43	c.-77 others(58): Show c.-77+609_-77+651delGTGTGGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGAG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706430	TACACACA others(36): Show TACACACACACACACACACACACACACACACACACCACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	428	0.0023	-43	c.-77 others(58): Show c.-77+605_-77+647delGTGTGTGTGGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RICTOR_chr5_38932920_39079399	39075089	CGCCGGGA others(36): Show CGCCGGGAGGCCGGGGAGAGGGTGTTCTCTGCCGGGAGCCGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0329 a0001c0005t0027g0329	1	338	0.0030	-43	c.-75 others(52): Show c.-755_-713delCCTCGGCTCCCGGCAGAGAACACCCTCTCCCCGGCC TCCCGGC	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		691		chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130610094	GGGGGGAA others(36): Show GGGGGGAAAATGGGAAGCCTGCTCCTCCCAGTCCCTCCCGTTCT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02165.hp1 HG01261.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0103 a0001c0001t0001g0028 a0001c0001t0001g0103	2	180	0.0111	-43	c.-21 others(64): Show c.-217+18185_-217+18227delAGAACGGGAGGGACTGGGAGGAGC AGGCTTCCCATTTTCCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130610123	AGTCCCTC others(36): Show AGTCCCTCCCGTTCTGGGGGAAAATGGGAAGCCTGCTCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	180	0.0056	-43	c.-21 others(64): Show c.-217+18156_-217+18198delCGGGAGGAGCAGGCTTCCCATTTT CCCCCAGAACGGGAGGGAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130610154	CCTGCTCC others(36): Show CCTGCTCCTCCCGGTCCCTCCCGTTCTGGGGGAAAATGGGAAGT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	180	0.0056	-43	c.-21 others(64): Show c.-217+18125_-217+18167delACTTCCCATTTTCCCCCAGAACGG GAGGGACCGGGAGGAGCAG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIN2_chr20_19753258_20007456	19844670	CTTCTTCT others(36): Show CTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG02258.hp2 others(7): Show HG01175.hp2 HG01243.hp2 HG02258.hp2 HG02622.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 NA19043.hp1 NA19066.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0003c0006 a0009c0011	a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0021 a0001c0002t0034 a0002c0004t0017 a0003c0006t0044 a0009c0011t0033	a0001c0001t0009g0029 a0001c0001t0009g0245 a0001c0002t0002g0149 others(7): Show a0001c0001t0009g0029 a0001c0001t0009g0245 a0001c0002t0002g0149 a0001c0002t0003g0228 a0001c0002t0005g0027 a0001c0002t0021g0012 a0001c0002t0034g0257 a0002c0004t0017g0244 a0003c0006t0044g0014 a0009c0011t0033g0243	10	276	0.0362	-43	c.-36 others(62): Show c.-36-44894_-36-44852delTCTTCTTCTTCTTCCTCTTCCTCTTC CTCTTCTTCTTCTTCTT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNASE2_chr14_20950487_20961436	20960036	ATTGTAGA others(36): Show ATTGTAGACCTCTAGGGCCTTCAGTGACCATAGGCAATAGCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-43	c.37 others(54): Show c.3780_*3822delTTGTAGACCTCTAGGGCCTTCAGTGACCATAGGC AATAGCCAG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG01516.hp2 others(6): Show HG01106.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG02083.hp2 HG03239.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0341 others(6): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0005g0065 a0001c0001t0005g0067	9	372	0.0242	-43	c.554 others(58): Show c.554+361_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF11_chr1_51231273_51278447	51250645	TGGCGTGG others(36): Show TGGCGTGGGCCTTGATGAGGTGGTCAGTGAATTCCTGATCGGGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01517.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG01517.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0027 a0001c0001t0003 a0001c0001t0018 a0001c0001t0027	a0001c0001t0003g0046 a0001c0001t0018g0004 a0001c0001t0018g0045 others(1): Show a0001c0001t0003g0046 a0001c0001t0018g0004 a0001c0001t0018g0045 a0001c0001t0027g0004	4	274	0.0146	-43	c.123 others(62): Show c.123+13768_123+13810delGCGTGGGCCTTGATGAGGTGGTCAGT GAATTCCTGATCGGGAG	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF126_chr19_642526_668214	644457	CCCCCGGG others(36): Show CCCCCGGGGAAGGGCGGAGGCCAACGCCTCGGTGTTCCTCCGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(137): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 a0002c0003t0001 a0002c0003t0006 a0003c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(130): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0364 a0001c0001t0001g0369 a0001c0001t0001g0375 a0001c0001t0001g0387 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0351 a0001c0001t0004g0214 a0001c0002t0001g0020 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0167 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0393 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0004t0004g0164 a0002c0003t0001g0010 a0002c0003t0001g0137 a0002c0003t0001g0147 a0002c0003t0001g0184 a0002c0003t0001g0194 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0216 a0002c0003t0001g0231 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0320 a0002c0003t0001g0348 a0002c0003t0006g0274 a0002c0003t0006g0275 a0003c0006t0001g0233 a0003c0006t0001g0303 a0003c0006t0001g0314 a0003c0006t0001g0329	140	434	0.3226	-43	c.36 others(54): Show c.3628_*3670delATCGGAGGAACACCGAGGCGTTGGCCTCCGCCCT TCCCCGGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		3068		chr19	TogoVar
RNF126_chr19_642526_668214	651094	GCCAGGAG others(36): Show GCCAGGAGTAGGGCCCTGCGACGGCTCCCCCAGGCTCTGTTCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02630.hp1 others(3): Show HG02055.hp1 HG02257.hp1 HG02630.hp1 HG02809.hp1 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0286 a0001c0002t0001g0072 a0001c0002t0001g0352 others(3): Show a0001c0001t0003g0286 a0001c0002t0001g0072 a0001c0002t0001g0352 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042	6	434	0.0138	-43	c.443 others(58): Show c.443+474_443+516delTGGAACAGAGCCTGGGGGAGCCGTCGCAGG GCCCTACTCCTGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	4/8			chr19	TogoVar
RNF126_chr19_642526_668214	651187	ATGGGGCC others(36): Show ATGGGGCCCTGCGACGGCTCCCCCAGGCTCCGTTCCACCAGGAG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19070.hp2 NA18945.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0097 a0002c0003t0001g0236 a0001c0001t0001g0097 a0002c0003t0001g0236	2	434	0.0046	-43	c.443 others(58): Show c.443+381_443+423delCTCCTGGTGGAACGGAGCCTGGGGGAGCCG TCGCAGGGCCCCA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	4/8			chr19	TogoVar
RNF180_chr5_64160843_64377869	64285456	TTTGGCTG others(36): Show TTTGGCTGCAGGCAAGTGCATGCCAGCAAAGTGGTGGGAGTAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	250	0.0040	-43	c.122 others(64): Show c.1228-39726_1228-39684delGCTGCAGGCAAGTGCATGCCAGCA AAGTGGTGGGAGTAGGTTG	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF185_chr22_31155182_31212019	31193341	CAGCGGGA others(36): Show CAGCGGGACCTGGTAGTACATATTGACTATGAGTTTATGAAGAA	C C	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	378	0.0027	-43	c.195 others(58): Show c.195+640_195+682delAGCGGGACCTGGTAGTACATATTGACTATG AGTTTATGAAGAA	RNF185	ENSG00000138942.17	transcript	ENST00000326132.11	protein_coding	3/6			chr22	TogoVar
RNGTT_chr6_88604897_88968618	88697913	GAAATACA others(36): Show GAAATACATATATATGATATATATATGAAATACATATATATGAT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG00738.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0182 a0001c0001t0002g0146 a0001c0001t0002g0182	2	220	0.0091	-43	c.144 others(64): Show c.1440-19537_1440-19495delATCATATATATGTATTTCATATAT ATATCATATATATGTATTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RORA_chr15_60483284_61234302	60597552	ATATATAT others(36): Show ATATATATATATATATATATATACACATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02572.hp2 NA20300.hp2 HG00621.hp1 HG02572.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0031 a0001c0001t0035 a0001c0001t0010 a0001c0001t0031 a0001c0001t0035	a0001c0001t0010g0081 a0001c0001t0031g0116 a0001c0001t0035g0101 a0001c0001t0010g0081 a0001c0001t0031g0116 a0001c0001t0035g0101	3	118	0.0254	-43	c.197 others(62): Show c.197-65744_197-65702delGTATATATATATATATATGTGTATAT ATATATATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	304	0.0033	-43	c.142 others(60): Show c.142-1319_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSF1_chr11_77655009_77825722	77732339	AGTCTCAC others(36): Show AGTCTCACAGGAAGAAGGGACTTGCCTTGTCTCAGATGAGATGT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	352	0.0028	-43	c.579 others(60): Show c.579-6683_579-6641delACATCTCATCTGAGACAAGGCAAGTCCC TTCTTCCTGTGAGAC	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15			chr11	TogoVar
RTN4IP1_chr6_106565771_106634498	106568055	TGCTCTTT others(36): Show TGCTCTTTCCTCGCTGGTGTCTCGAATCTACCATCTCACCACCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01106.hp2 others(73): Show HG00280.hp2 HG00639.hp2 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18950.hp2 NA18966.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18979.hp1 NA18985.hp1 NA18995.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0005 a0001c0008 others(3): Show a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0005c0010	a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 others(7): Show a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0001c0003t0016 a0001c0005t0009 a0001c0008t0001 a0001c0009t0007 a0001c0011t0004 a0005c0010t0013	a0001c0003t0004g0012 a0001c0003t0004g0014 a0001c0003t0004g0015 others(70): Show a0001c0003t0004g0012 a0001c0003t0004g0014 a0001c0003t0004g0015 a0001c0003t0004g0142 a0001c0003t0004g0143 a0001c0003t0004g0154 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0159 a0001c0003t0004g0166 a0001c0003t0004g0167 a0001c0003t0004g0168 a0001c0003t0004g0169 a0001c0003t0004g0170 a0001c0003t0004g0171 a0001c0003t0004g0172 a0001c0003t0004g0173 a0001c0003t0004g0174 a0001c0003t0004g0175 a0001c0003t0004g0176 a0001c0003t0004g0177 a0001c0003t0004g0178 a0001c0003t0004g0179 a0001c0003t0004g0180 a0001c0003t0004g0181 a0001c0003t0004g0182 a0001c0003t0004g0205 a0001c0003t0004g0206 a0001c0003t0004g0207 a0001c0003t0004g0208 a0001c0003t0004g0209 a0001c0003t0004g0210 a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0004g0213 a0001c0003t0004g0214 a0001c0003t0004g0215 a0001c0003t0004g0216 a0001c0003t0004g0217 a0001c0003t0004g0218 a0001c0003t0004g0219 a0001c0003t0004g0220 a0001c0003t0004g0221 a0001c0003t0004g0223 a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0227 a0001c0003t0004g0228 a0001c0003t0004g0229 a0001c0003t0007g0144 a0001c0003t0007g0145 a0001c0003t0007g0146 a0001c0003t0007g0147 a0001c0003t0007g0148 a0001c0003t0007g0149 a0001c0003t0007g0150 a0001c0003t0007g0151 a0001c0003t0012g0349 a0001c0003t0012g0356 a0001c0003t0014g0017 a0001c0003t0016g0141 a0001c0005t0009g0094 a0001c0005t0009g0095 a0001c0005t0009g0131 a0001c0005t0009g0137 a0001c0005t0009g0138 a0001c0008t0001g0153 a0001c0009t0007g0152 a0001c0011t0004g0233 a0005c0010t0013g0018	76	396	0.1919	-43	c.38 others(54): Show c.3898_*3940delTGGTGGTGAGATGGTAGATTCGAGACACCAGCGA GGAAAGAGC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding		2715		chr6	TogoVar
SACS_chr13_23323830_23438702	23395102	GGGAGGCT others(36): Show GGGAGGCTGGGTCAGAGTCCTGGGCTTCCCTGTTTATTAAATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00609.hp1 others(46): Show HG00099.hp1 HG00438.hp2 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01975.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp2 HG03669.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18939.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp2 NA18988.hp2 NA18994.hp2 NA19010.hp1 NA19011.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0009 a0015 a0016	a0001c0004 a0003c0005 a0003c0012 others(5): Show a0001c0004 a0003c0005 a0003c0012 a0004c0007 a0007c0013 a0009c0017 a0015c0027 a0016c0026	a0001c0004t0002 a0003c0005t0001 a0003c0005t0004 others(10): Show a0001c0004t0002 a0003c0005t0001 a0003c0005t0004 a0003c0005t0008 a0003c0012t0003 a0003c0012t0004 a0004c0007t0001 a0004c0007t0004 a0004c0007t0017 a0007c0013t0001 a0009c0017t0001 a0015c0027t0001 a0016c0026t0004	a0001c0004t0002g0252 a0003c0005t0001g0004 a0003c0005t0001g0032 others(45): Show a0001c0004t0002g0252 a0003c0005t0001g0004 a0003c0005t0001g0032 a0003c0005t0001g0125 a0003c0005t0001g0148 a0003c0005t0001g0155 a0003c0005t0001g0199 a0003c0005t0001g0207 a0003c0005t0001g0209 a0003c0005t0001g0211 a0003c0005t0001g0213 a0003c0005t0001g0222 a0003c0005t0001g0228 a0003c0005t0001g0234 a0003c0005t0001g0238 a0003c0005t0001g0251 a0003c0005t0001g0279 a0003c0005t0001g0291 a0003c0005t0001g0292 a0003c0005t0001g0296 a0003c0005t0001g0301 a0003c0005t0001g0312 a0003c0005t0001g0335 a0003c0005t0001g0344 a0003c0005t0001g0354 a0003c0005t0001g0358 a0003c0005t0004g0150 a0003c0005t0004g0240 a0003c0005t0004g0347 a0003c0005t0008g0008 a0003c0012t0003g0075 a0003c0012t0004g0179 a0004c0007t0001g0037 a0004c0007t0001g0105 a0004c0007t0001g0108 a0004c0007t0001g0109 a0004c0007t0001g0159 a0004c0007t0001g0188 a0004c0007t0001g0195 a0004c0007t0001g0200 a0004c0007t0004g0052 a0004c0007t0004g0315 a0004c0007t0017g0010 a0007c0013t0001g0172 a0007c0013t0001g0201 a0009c0017t0001g0294 a0015c0027t0001g0215 a0016c0026t0004g0151	49	378	0.1296	-43	c.20+ others(60): Show c.20+16075_20+16117delATATTTAATAAACAGGGAAGCCCAGGAC TCTGACCCAGCCTCC	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23395146	GGAGGCTG others(36): Show GGAGGCTGGGTCAGAGTCCTGGGCTTCCCTGTTTATTAAATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00738.hp1 others(23): Show HG00280.hp1 HG00639.hp1 HG00738.hp1 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG06807.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0011 a0034 a0040	a0001c0002 a0001c0003 a0001c0006 others(9): Show a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0014 a0001c0016 a0002c0001 a0002c0033 a0005c0047 a0011c0019 a0034c0037 a0040c0061	a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 others(11): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 a0001c0003t0023 a0001c0006t0019 a0001c0008t0010 a0001c0014t0005 a0001c0016t0001 a0002c0001t0001 a0002c0033t0001 a0005c0047t0005 a0011c0019t0001 a0034c0037t0001 a0040c0061t0001	a0001c0002t0003g0025 a0001c0002t0003g0069 a0001c0003t0001g0020 others(23): Show a0001c0002t0003g0025 a0001c0002t0003g0069 a0001c0003t0001g0020 a0001c0003t0001g0031 a0001c0003t0001g0040 a0001c0003t0001g0083 a0001c0003t0001g0325 a0001c0003t0001g0327 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0360 a0001c0003t0001g0364 a0001c0003t0001g0365 a0001c0003t0001g0373 a0001c0003t0008g0012 a0001c0003t0023g0039 a0001c0006t0019g0223 a0001c0008t0010g0262 a0001c0014t0005g0100 a0001c0016t0001g0060 a0002c0001t0001g0038 a0002c0033t0001g0313 a0005c0047t0005g0363 a0011c0019t0001g0061 a0034c0037t0001g0030 a0040c0061t0001g0026	26	378	0.0688	-43	c.20+ others(60): Show c.20+16031_20+16073delTATATTTAATAAACAGGGAAGCCCAGGA CTCTGACCCAGCCTC	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SARDH_chr9_133658560_133743352	133669030	TCACCTTC others(36): Show TCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0118 a0002c0012t0001g0118	1	262	0.0038	-43	c.249 others(62): Show c.2495+1511_2495+1553delGATGGAGGGTGAGGGAGAGGGAGGGT AAGGGAGAGGGAAGGTG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133680730	CCTCCAGA others(36): Show CCTCCAGACACACGCAGACCTGGCCGCCAGGCCCACACTGGCCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02615.hp1 others(2): Show HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0033 a0001c0051 a0001c0052 others(1): Show a0001c0033 a0001c0051 a0001c0052 a0003c0054	a0001c0033t0001 a0001c0033t0004 a0001c0051t0002 others(2): Show a0001c0033t0001 a0001c0033t0004 a0001c0051t0002 a0001c0052t0001 a0003c0054t0001	a0001c0033t0001g0146 a0001c0033t0004g0029 a0001c0051t0002g0032 others(2): Show a0001c0033t0001g0146 a0001c0033t0004g0029 a0001c0051t0002g0032 a0001c0052t0001g0144 a0003c0054t0001g0145	5	262	0.0191	-43	c.216 others(62): Show c.2163+4420_2163+4462delTGGCCAGTGTGGGCCTGGCGGCCAGG TCTGCGTGTGTCTGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	17/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148449030	TGTGTTGC others(36): Show TGTGTTGCTGTGATAGAATACCCGAGACTGGCTAATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0300 a0001c0001t0006g0300	1	322	0.0031	-43	c.386 others(60): Show c.386+8624_386+8666delGTGTTGCTGTGATAGAATACCCGAGACT GGCTAATTTCATTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19			chr6	TogoVar
SCGB1C2_chr17_132569_144067	141424	GGACCTTG others(36): Show GGACCTTGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	402	0.0025	-43	c.24 others(54): Show c.2483_*2525delGACCTTGGTGAGGGGAGCATGGTGAGGGGAACAT GGGTGGGGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2358		chr17	TogoVar
SCN10A_chr3_38691807_38821217	38819967	CTGAGTTA others(36): Show CTGAGTTAAAAATACTGAGTTAAAAAATATGTAGCCATATCAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0370 a0001c0032t0001g0370	1	372	0.0027	-43	c.-40 others(54): Show c.-4006_-3964delATTGATATGGCTACATATTTTTTAACTCAGTATT TTTAACTCA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding		3751		chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938522	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp1 HG02027.hp1 others(10): Show HG00733.hp2 HG01361.hp1 HG02027.hp1 HG02080.hp2 HG03239.hp1 HG03831.hp2 NA18952.hp2 NA18967.hp2 NA18989.hp2 NA19002.hp1 NA19003.hp2 NA19085.hp2 NA19090.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0023 a0001c0002 a0010c0023	a0001c0002t0004 a0010c0023t0004 a0001c0002t0004 a0010c0023t0004	a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 others(10): Show a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0052 a0001c0002t0004g0053 a0010c0023t0004g0039	13	314	0.0414	-43	c.488 others(60): Show c.488+6846_488+6888delAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCRIB_chr8_143785925_143820773	143799760	CTAGAAAG others(36): Show CTAGAAAGCAGGAGACGTAGGCTCTGACAGACAGACGTGGGCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG02647.hp2 others(14): Show HG01891.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp2 NA18522.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0018	a0001c0001 a0001c0011 a0001c0013 others(4): Show a0001c0001 a0001c0011 a0001c0013 a0001c0059 a0002c0002 a0005c0060 a0018c0058	a0001c0001t0001 a0001c0011t0001 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0011t0001 a0001c0013t0001 a0001c0059t0001 a0002c0002t0001 a0005c0060t0001 a0018c0058t0001	a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 others(9): Show a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0011t0001g0015 a0001c0011t0001g0147 a0001c0011t0001g0148 a0001c0013t0001g0025 a0001c0059t0001g0145 a0002c0002t0001g0038 a0005c0060t0001g0146 a0018c0058t0001g0144	17	387	0.0439	-43	c.360 others(62): Show c.3603+3580_3603+3622delCGGCCCACGTCTGTCTGTCAGAGCCT ACGTCTCCTGCTTTCTA	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	24/36			chr8	TogoVar
SCRIB_chr8_143785925_143820773	143799793	GACGTGGG others(36): Show GACGTGGGCCGTAGAAAGCAGGAGACGTAGGCTCTGACAGACAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0160 a0001c0013t0001g0160	1	387	0.0026	-43	c.360 others(62): Show c.3603+3547_3603+3589delTTGTCTGTCAGAGCCTACGTCTCCTG CTTTCTACGGCCCACGT	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	24/36			chr8	TogoVar

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