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
REV3L_chr6_111294033_111488218	111422595	CACATATA others(37): Show CACATATATATATATATACACATATATATATATATACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	288	0.0035	-44	c.140 others(61): Show c.140-6167_140-6124delATATATGTGTATATATATATATATGTGT ATATATATATATATGT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFTN1_chr3_16310845_16518699	16403920	ATAATATA others(37): Show ATAATATATTATATTTATATATAATATATAATATATATTTTATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	268	0.0037	-44	c.441 others(61): Show c.441+5411_441+5454delATATAAAATATATATTATATATTATATA TAAATATAATATATTA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFX3_chr9_3213297_3531001	3504116	TCTCCCTC others(37): Show TCTCCCTCTCTCTTTATATATATTATATATTATACATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04115.hp2 NA19002.hp2 others(1): Show HG02615.hp1 HG04115.hp2 NA19002.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0029 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0029 a0001c0001t0030	a0001c0001t0005g0169 a0001c0001t0010g0168 a0001c0001t0029g0089 others(1): Show a0001c0001t0005g0169 a0001c0001t0010g0168 a0001c0001t0029g0089 a0001c0001t0030g0098	4	196	0.0204	-44	c.-9+ others(61): Show c.-9+21587_-9+21630delTATATAATATGTATAATATATAATATAT ATAAAGAGAGAGGGAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX7_chr15_56082280_56248879	56110370	GGGGGGGG others(37): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03209.hp1 HG03471.hp1 others(1): Show HG01884.hp2 HG03209.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0012 a0001c0001t0025 a0001c0005t0012 a0001c0001t0012 a0001c0001t0025 a0001c0005t0012	a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0025g0010 others(1): Show a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0025g0010 a0001c0005t0012g0008	4	360	0.0111	-44	c.402 others(61): Show c.402-6744_402-6701delTCCCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCC	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGL3_chr19_11389060_11424314	11414137	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATACACC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0156 a0006c0009t0001g0156	1	402	0.0025	-44	c.637 others(61): Show c.637+1756_637+1799delGGTGTATATATATATATATATATATATA TATATATATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGN_chrX_47073443_47098313	47074216	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	304	0.0033	-44	c.-51 others(55): Show c.-5128_-5085delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4226		chrX	TogoVar
RGPD2_chr2_87750960_87830796	87825537	CCGAGGCC others(37): Show CCGAGGCCGCCGCCCGGCCAGGTCGAGGCCGCCGCCCGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG02015.hp1 others(6): Show HG00140.hp1 HG01099.hp2 HG02015.hp1 HG02735.hp2 HG03239.hp1 HG03942.hp2 HG04199.hp2 NA18939.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0023 a0005c0007 a0001c0001 a0001c0023 a0005c0007	a0001c0001t0001 a0001c0023t0001 a0005c0007t0001 a0001c0001t0001 a0001c0023t0001 a0005c0007t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(6): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0023t0001g0166 a0005c0007t0001g0158	9	176	0.0511	-44	c.72+ others(56): Show c.72+77_72+120delACCTGGCCGGGCGGCGGCCTCGACCTGGCCGGG CGGCGGCCTCG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS22_chr8_99955936_100111049	100098847	TTATTTTA others(37): Show TTATTTTATTATTTTATTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01243.hp2 others(10): Show HG00408.hp1 HG00558.hp1 HG01243.hp2 HG02083.hp1 HG02630.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp1 HG03486.hp2 HG03831.hp1 NA18950.hp1 NA18952.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0102 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0286 a0001c0001t0004g0003	13	310	0.0419	-44	c.55- others(59): Show c.55-5382_55-5339delTAAAATAAAATAAAATAAAATAAAATAAAT AAAATAATAAAATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	2/27			chr8	TogoVar
RGS9_chr17_65132370_65232703	65228151	GTGCAGTC others(37): Show GTGCAGTCCAAGAAAGTTTTGAACAGGCTGCTGGGGTGTCCTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	222	0.0045	-44	c.74 others(53): Show c.745_*788delTGCAGTCCAAGAAAGTTTTGAACAGGCTGCTGGGGT GTCCTTTA	RGS9	ENSG00000108370.17	transcript	ENST00000262406.10	protein_coding		449		chr17	TogoVar
RHBDF2_chr17_76465896_76506423	76494977	AGTGGCCC others(37): Show AGTGGCCCCTGGGGGCCAAAAGGCCCTGTCCATTTGGGGTCAGAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0025 a0002c0002t0007g0025	1	364	0.0028	-44	c.-22 others(63): Show c.-220+6332_-220+6375delGTCTGACCCCAAATGGACAGGGCCTT TTGGCCCCCAGGGGCCAC	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding	1/18			chr17	TogoVar
RHOBTB2_chr8_22994548_23025199	22996525	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0026 a0001c0006t0015g0026	2	358	0.0056	-44	c.-35 others(55): Show c.-3590_-3547delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTC	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding		3022		chr8	TogoVar
RHOC_chr1_112696131_112712127	112706454	CACACACA others(37): Show CACACACACACCACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02145.hp1 HG02896.hp2 others(6): Show HG02132.hp1 HG02145.hp1 HG02896.hp2 HG03579.hp2 HG03688.hp2 HG06807.hp1 NA18992.hp1 NA19011.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0069	9	428	0.0210	-44	c.-77 others(59): Show c.-77+580_-77+623delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGGTGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706456	CACACACA others(37): Show CACACACACCACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	428	0.0023	-44	c.-77 others(59): Show c.-77+578_-77+621delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546468	ATATATGT others(37): Show ATATATGTGTATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01256.hp2 others(26): Show HG00408.hp1 HG00558.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01934.hp1 HG02056.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02738.hp1 HG02922.hp1 HG03471.hp1 HG03516.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18967.hp1 NA18990.hp1 NA18991.hp2 NA19011.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0210 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0003g0106 a0001c0001t0005g0211 a0001c0001t0005g0229 a0001c0001t0023g0284 a0002c0003t0001g0008	29	332	0.0874	-44	c.201 others(61): Show c.201+2662_201+2705delGTGTATATATATATATATATATATATAT ATATATATATGTATAT	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIBC2_chr22_45408693_45437509	45436165	CACTTTGT others(37): Show CACTTTGTCGCCCAAGCTGGCGTGGCACAATCTTGACTTACTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	424	0.0024	-44	c.38 others(55): Show c.3804_*3847delACTTTGTCGCCCAAGCTGGCGTGGCACAATCTTG ACTTACTGCA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding		3657		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21383034	CTGAGGCC others(37): Show CTGAGGCCTCTACCTAAGATGCCAATGAGTAGCCCAGACACTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0000 a0001c0002t0004g0000	1	118	0.0085	-44	c.-82 others(53): Show c.-824_-781delTGAGGCCTCTACCTAAGATGCCAATGAGTAGCCCAG ACACTGGG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		716		chr22	TogoVar
RMND1_chr6_151399762_151457126	151450359	GGGGTCAG others(37): Show GGGGTCAGCCCCCGCCAGGCCAGCCACCCCATCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02965.hp2 others(3): Show HG02109.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0261 a0001c0001t0005g0013 a0001c0001t0005g0262 others(2): Show a0001c0001t0002g0261 a0001c0001t0005g0013 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264	6	392	0.0153	-44	c.-15 others(61): Show c.-15+1613_-15+1656delACCTCCCTCCCGGATGGGGTGGCTGGCC TGGCGGGGGCTGACCC	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11			chr6	TogoVar
RNF126_chr19_642526_668214	644453	AGATCCCC others(37): Show AGATCCCCCGGGGAAGGGCGGAGGCCAACGCCTCGGTGTTCCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 NA19002.hp1 HG02895.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0023 a0001c0001t0001g0015 a0001c0001t0002g0023	2	434	0.0046	-44	c.36 others(55): Show c.3631_*3674delGGAGGAACACCGAGGCGTTGGCCTCCGCCCTTCC CCGGGGGATC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		3072		chr19	TogoVar
RNF213_chr17_80255852_80403794	80272840	CCACTGGG others(37): Show CCACTGGGAGAATGCCCACCCTGGGGAAGACAGGAGGAATGTCTA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0028 a0008c0013t0028	a0008c0013t0028g0241 a0008c0013t0028g0241	1	292	0.0034	-44	c.98- others(57): Show c.98-398_98-355delCTGGGAGAATGCCCACCCTGGGGAAGACAGGA GGAATGTCTACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	2/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1075620	GGGGGTTG others(37): Show GGGGGTTGGGGGGACCCCTGCCAGTTCCATGAGGACTCTCAGTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02818.hp2 others(8): Show HG01123.hp1 HG02258.hp2 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA19240.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 others(1): Show a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 a0008c0009t0018	a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 others(2): Show a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 a0002c0002t0019g0047 a0008c0009t0018g0048	11	324	0.0340	-44	c.-16 others(55): Show c.-1658_-1615delTGACTGAGAGTCCTCATGGAACTGGCAGGGGTCC CCCCAACCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1315		chr1	TogoVar
RNF26_chr11_119329527_119342309	119336835	CATTTGGG others(37): Show CATTTGGGTGTTTTGGCAACTCAGGGGCCTTCGGATGATCTTAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0000 a0001c0001t0013g0000	1	422	0.0024	-44	c.41 others(53): Show c.412_*455delATTTGGGTGTTTTGGCAACTCAGGGGCCTTCGGATG ATCTTAAA	RNF26	ENSG00000173456.5	transcript	ENST00000311413.5	protein_coding	1/1	412		chr11	TogoVar
RNF38_chr9_36331400_36405269	36341793	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02647.hp1 others(3): Show HG02258.hp2 HG02572.hp2 HG02647.hp1 HG02896.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0005 a0001c0001t0004 a0001c0003t0005	a0001c0001t0004g0021 a0001c0001t0004g0024 a0001c0001t0004g0027 others(3): Show a0001c0001t0004g0021 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0003t0005g0018	6	402	0.0149	-44	c.148 others(61): Show c.1485+488_1485+531delATATATATATATATATATATATATATAT ATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNF38_chr9_36331400_36405269	36341823	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0042 a0001c0001t0015g0042	1	402	0.0025	-44	c.148 others(61): Show c.1485+458_1485+501delTTATATATATATATATATATATATATAT ATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNGTT_chr6_88604897_88968618	88698125	TACATATA others(37): Show TACATATATATGATATATATATGAAATACATATGATATATATGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01069.hp1 others(30): Show HG00099.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01258.hp2 HG01515.hp1 HG02056.hp1 HG02074.hp1 HG02523.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG03017.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp2 NA18944.hp2 NA18945.hp1 NA18956.hp2 NA18960.hp2 NA18965.hp1 NA18983.hp1 NA19001.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19063.hp2 NA19072.hp2 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0156 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0141 a0001c0001t0003g0218	33	220	0.1500	-44	c.144 others(65): Show c.1440-19750_1440-19707delGTCATATATATCATATGTATTTCA TATATATATCATATATATGT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	78711344	CTTCCTCC others(37): Show CTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0015	1	44	0.0227	-44	c.104 others(63): Show c.1045+3009_1045+3052delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAGGAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77200263	TATTTTAT others(37): Show TATTTTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02970.hp2 others(5): Show HG02630.hp2 HG02922.hp2 HG02970.hp2 HG03225.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0028 a0001c0001t0037 a0001c0002t0001 a0001c0006t0001 a0007c0013t0003	a0001c0001t0001g0146 a0001c0001t0002g0105 a0001c0001t0021g0016 others(5): Show a0001c0001t0001g0146 a0001c0001t0002g0105 a0001c0001t0021g0016 a0001c0001t0028g0084 a0001c0001t0037g0011 a0001c0002t0001g0138 a0001c0006t0001g0005 a0007c0013t0003g0147	8	160	0.0500	-44	c.388 others(65): Show c.388+101924_388+101967delATTTTATATATATATATATATATA TATATATATATATATATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
RORB_chr9_74492335_74698177	74549535	GGGAGGGA others(37): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	226	0.0044	-44	c.7+5 others(59): Show c.7+51556_7+51599delGGGAGGGAGGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(37): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01070.hp1 others(14): Show HG00323.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01261.hp1 HG01517.hp2 HG02080.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 a0001c0001t0026 a0001c0001t0054	a0001c0001t0001g0068 a0001c0001t0001g0119 a0001c0001t0001g0133 others(14): Show a0001c0001t0001g0068 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0003g0151 a0001c0001t0004g0057 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0102 a0001c0001t0006g0210 a0001c0001t0010g0159 a0001c0001t0024g0175 a0001c0001t0026g0185 a0001c0001t0054g0162	17	226	0.0752	-44	c.7+5 others(59): Show c.7+51560_7+51603delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
ROS1_chr6_117282353_117430942	117326086	TAAGATTA others(37): Show TAAGATTATATATATATATATATATATATATATATATATATAGTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02647.hp1 HG02895.hp1 others(8): Show HG02074.hp2 HG02647.hp1 HG02895.hp1 HG03195.hp1 HG03688.hp2 NA18522.hp1 NA18948.hp1 NA18975.hp2 NA19012.hp2 NA19064.hp1 NA19065.hp1	a0011 a0022 a0033 others(4): Show a0011 a0022 a0033 a0034 a0037 a0038 a0040	a0011c0015 a0022c0039 a0033c0053 others(4): Show a0011c0015 a0022c0039 a0033c0053 a0034c0073 a0037c0056 a0038c0049 a0040c0032	a0011c0015t0001 a0011c0015t0002 a0022c0039t0001 others(5): Show a0011c0015t0001 a0011c0015t0002 a0022c0039t0001 a0033c0053t0009 a0034c0073t0006 a0037c0056t0002 a0038c0049t0002 a0040c0032t0005	a0011c0015t0001g0185 a0011c0015t0001g0188 a0011c0015t0002g0161 others(8): Show a0011c0015t0001g0185 a0011c0015t0001g0188 a0011c0015t0002g0161 a0011c0015t0002g0183 a0011c0015t0002g0184 a0022c0039t0001g0228 a0033c0053t0009g0281 a0034c0073t0006g0011 a0037c0056t0002g0092 a0038c0049t0002g0117 a0040c0032t0005g0223	11	322	0.0342	-44	c.553 others(60): Show c.5539+94_5539+137delGACTATATATATATATATATATATATATA TATATATATAATCTT	ROS1	ENSG00000047936.11	transcript	ENST00000368507.8	protein_coding	34/43			chr6	TogoVar
RPH3AL_chr17_207389_357807	300520	CTAGACCT others(37): Show CTAGACCTGCAGAATCTCTCACCCGGTCTAGCAGGGGCTGGCCCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG01496.hp1 others(14): Show HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp1 HG02559.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03453.hp1 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19074.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0018 a0001c0003t0028 a0001c0004t0001 a0002c0012t0005	a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0003g0098 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0003g0098 a0001c0001t0004g0039 a0001c0001t0005g0017 a0001c0001t0010g0015 a0001c0001t0010g0131 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0003g0090 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0003t0018g0019 a0001c0003t0028g0088 a0001c0004t0001g0078 a0002c0012t0005g0020	17	133	0.1278	-44	c.352 others(63): Show c.352-18710_352-18667delTGGGCCAGCCCCTGCTAGACCGGGTG AGAGATTCTGCAGGTCTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS16_chr19_39428137_39440949	39429585	GCAGTGGT others(37): Show GCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCGCTGGAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02165.hp1 HG03579.hp2 others(3): Show HG02074.hp1 HG02165.hp1 HG03579.hp2 NA18963.hp2 NA19012.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0001	6	410	0.0146	-44	c.36 others(55): Show c.3644_*3687delAACTCCAGCGGCAGAGGTTGCAGTGAGCCAAGAT CGCACCACTG	RPS16	ENSG00000105193.9	transcript	ENST00000251453.8	protein_coding		3551		chr19	TogoVar
RPS6KA2_chr6_166404364_166632251	166467194	ACTCACTC others(37): Show ACTCACTCATTCATTCACTCCCTCACTCATTCACTCCCTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01081.hp1 others(22): Show HG00609.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp1 HG02257.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02970.hp2 HG03195.hp2 HG03492.hp1 HG03834.hp1 NA18522.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18979.hp1 NA19009.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0001c0021 a0001c0024 a0001c0039 a0001c0041 a0001c0046 a0001c0055 a0001c0056 a0001c0061	a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 others(18): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0006t0037 a0001c0010t0005 a0001c0011t0003 a0001c0012t0002 a0001c0014t0038 a0001c0020t0001 a0001c0021t0002 a0001c0021t0009 a0001c0024t0001 a0001c0039t0003 a0001c0041t0004 a0001c0046t0004 a0001c0055t0007 a0001c0056t0001 a0001c0061t0015	a0001c0001t0001g0088 a0001c0001t0001g0172 a0001c0001t0011g0007 others(22): Show a0001c0001t0001g0088 a0001c0001t0001g0172 a0001c0001t0011g0007 a0001c0001t0035g0066 a0001c0002t0002g0136 a0001c0002t0007g0082 a0001c0002t0009g0107 a0001c0006t0037g0122 a0001c0010t0005g0190 a0001c0011t0003g0208 a0001c0012t0002g0036 a0001c0014t0038g0069 a0001c0020t0001g0077 a0001c0020t0001g0176 a0001c0020t0001g0239 a0001c0021t0002g0137 a0001c0021t0009g0095 a0001c0021t0009g0096 a0001c0024t0001g0040 a0001c0039t0003g0059 a0001c0041t0004g0056 a0001c0046t0004g0154 a0001c0055t0007g0080 a0001c0056t0001g0102 a0001c0061t0015g0073	25	244	0.1025	-44	c.972 others(61): Show c.972+2603_972+2646delGGAAGGAGGGAGTGAATGAGTGAGGGAG TGAATGAATGAGTGAG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	11/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166510552	CTCATATA others(37): Show CTCATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0014 a0001c0042t0014	a0001c0042t0014g0043 a0001c0042t0014g0043	1	244	0.0041	-44	c.299 others(59): Show c.299-239_299-196delATATATATATATATATATATATATATATAT ATATATATATATGA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20			chr6	TogoVar
RPS6KA3_chrX_20144911_20271909	20268770	ATGGGGCC others(37): Show ATGGGGCCACTTGGCTCTTGCCTTTGTCACTTCCCTTCACATGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0147 a0001c0001t0029g0147	1	212	0.0047	-44	c.-21 others(55): Show c.-2182_-2139delAGCATGTGAAGGGAAGTGACAAAGGCAAGAGCCA AGTGGCCCCA	RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding		1862		chrX	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01123.hp2 others(1): Show HG00408.hp1 HG00438.hp2 HG01123.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0162 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0001g0191	4	304	0.0132	-44	c.142 others(61): Show c.142-1320_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01070.hp1 others(20): Show HG00558.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG01891.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02145.hp1 HG02300.hp2 HG02897.hp2 HG03516.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18998.hp2 NA19030.hp2 NA19054.hp2 NA19057.hp2 NA19084.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0292 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0007g0230 a0001c0001t0013g0231	23	330	0.0697	-44	c.472 others(61): Show c.472+2046_472+2089delATATATATATATATATATATATATATAT ATATATATATATATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RRAGB_chrX_55712749_55763774	55740338	ATTGTGAT others(37): Show ATTGTGATTTTGAACCATGAATTTTAAATCATTATGACTAGGCTC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	276	0.0036	-44	c.516 others(61): Show c.516+8753_516+8796delTTGTGATTTTGAACCATGAATTTTAAAT CATTATGACTAGGCTC	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9			chrX	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01516.hp2 others(8): Show HG01081.hp1 HG01175.hp2 HG01516.hp2 HG01517.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02647.hp2 NA18981.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0206 others(8): Show a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0312	11	314	0.0350	-44	c.421 others(61): Show c.421+3923_421+3966delCTTTCTTTCTTTCTTTCTTCCTTTCTTT CTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPO4_chr20_953452_1007311	959083	GAGTGTGG others(37): Show GAGTGTGGTGGTGGGTGTGGGGGAGTGTGGTGGTGGGTGTGGGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0113 a0001c0001t0035g0113	1	376	0.0027	-44	c.12 others(55): Show c.1230_*1273delGCCCCACACCCACCACCACACTCCCCCACACCCA CCACCACACT	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	5/5	1230		chr20	TogoVar
RSPO4_chr20_953452_1007311	985016	CATCCATC others(37): Show CATCCATCCACCAACCCATCTATCCATCCAATCACCCACCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(193): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0006 a0006c0008 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0003t0009 a0001c0003t0017 a0001c0003t0047 a0002c0002t0007 a0002c0002t0012 a0002c0002t0018 a0003c0004t0060 a0005c0006t0004 a0006c0008t0007 a0008c0007t0048	a0001c0001t0001g0056 a0001c0001t0001g0144 a0001c0001t0001g0166 others(156): Show a0001c0001t0001g0056 a0001c0001t0001g0144 a0001c0001t0001g0166 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0235 a0001c0001t0002g0268 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0035 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0237 a0001c0001t0004g0006 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0005g0143 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0249 a0001c0001t0007g0256 a0001c0001t0008g0057 a0001c0001t0009g0033 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0009g0255 a0001c0001t0009g0297 a0001c0001t0010g0010 a0001c0001t0010g0274 a0001c0001t0010g0287 a0001c0001t0010g0289 a0001c0001t0010g0292 a0001c0001t0011g0032 a0001c0001t0011g0208 a0001c0001t0011g0260 a0001c0001t0011g0269 a0001c0001t0011g0271 a0001c0001t0011g0272 a0001c0001t0013g0171 a0001c0001t0013g0265 a0001c0001t0013g0275 a0001c0001t0013g0282 a0001c0001t0013g0286 a0001c0001t0013g0295 a0001c0001t0014g0047 a0001c0001t0014g0048 a0001c0001t0014g0137 a0001c0001t0014g0163 a0001c0001t0015g0253 a0001c0001t0015g0278 a0001c0001t0015g0279 a0001c0001t0015g0285 a0001c0001t0015g0290 a0001c0001t0016g0028 a0001c0001t0016g0174 a0001c0001t0016g0183 a0001c0001t0016g0228 a0001c0001t0017g0049 a0001c0001t0021g0245 a0001c0001t0021g0246 a0001c0001t0021g0251 a0001c0001t0022g0302 a0001c0001t0022g0303 a0001c0001t0022g0304 a0001c0001t0023g0013 a0001c0001t0024g0046 a0001c0001t0024g0050 a0001c0001t0025g0168 a0001c0001t0025g0169 a0001c0001t0026g0036 a0001c0001t0029g0037 a0001c0001t0030g0039 a0001c0001t0032g0055 a0001c0001t0033g0044 a0001c0001t0040g0112 a0001c0001t0041g0293 a0001c0001t0042g0277 a0001c0001t0043g0263 a0001c0001t0044g0270 a0001c0001t0045g0254 a0001c0001t0046g0284 a0001c0001t0049g0294 a0001c0001t0050g0283 a0001c0001t0051g0170 a0001c0001t0052g0238 a0001c0001t0053g0167 a0001c0001t0054g0276 a0001c0001t0056g0186 a0001c0001t0058g0233 a0001c0001t0059g0232 a0001c0001t0061g0300 a0001c0003t0009g0034 a0001c0003t0009g0288 a0001c0003t0017g0043 a0001c0003t0047g0250 a0002c0002t0007g0280 a0002c0002t0012g0012 a0002c0002t0012g0051 a0002c0002t0012g0053 a0002c0002t0012g0054 a0002c0002t0018g0022 a0002c0002t0018g0135 a0002c0002t0018g0164 a0003c0004t0060g0281 a0005c0006t0004g0175 a0006c0008t0007g0192 a0008c0007t0048g0291	196	376	0.5213	-44	c.80- others(61): Show c.80-16922_80-16879delAGATGGGTGGGTGATTGGATGGATAGAT GGGTTGGTGGATGGAT	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	1/4			chr20	TogoVar
RSPRY1_chr16_57181329_57245469	57197923	GCTACATT others(37): Show GCTACATTACCCAAGCTGGTCTCAGCCTCCTGGGCTCAAGCAATC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00621.hp1 others(57): Show HG00280.hp1 HG00558.hp1 HG00621.hp1 HG01070.hp2 HG01255.hp1 HG01515.hp1 HG02015.hp1 HG02145.hp2 HG02165.hp1 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19057.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024	a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 others(56): Show a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0004g0001 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0147 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0006g0129 a0001c0001t0006g0133 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0013g0311 a0001c0001t0013g0319 a0001c0001t0014g0325 a0001c0001t0014g0326 a0001c0001t0016g0131 a0001c0001t0021g0146 a0001c0001t0024g0330	60	358	0.1676	-44	c.-15 others(63): Show c.-155-6578_-155-6535delACATTACCCAAGCTGGTCTCAGCCTC CTGGGCTCAAGCAATCCT	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSU1_chr10_16585611_16822424	16645964	GTGTATAT others(37): Show GTGTATATATATGTGTATATACATATATGTGTATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	190	0.0053	-44	c.731 others(63): Show c.731+49015_731+49058delTACACATATATATACACATATATGTA TATACACATATATATACA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RUNX1_chr21_34782801_35054302	34993634	GACACACA others(37): Show GACACACACAGGCACACACACACAGACACACAGAGACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02615.hp2 others(6): Show HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03225.hp2 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 others(3): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 a0001c0002t0006 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0001g0133 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0025g0148 a0001c0001t0028g0122 a0001c0002t0006g0101 a0001c0003t0001g0011 a0001c0007t0001g0161	9	170	0.0529	-44	c.58+ others(61): Show c.58+55164_58+55207delGTGTGTGTGTCTCTGTGTGTCTGTGTGT GTGTGCCTGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0032 a0001c0018t0032	a0001c0018t0032g0041 a0001c0018t0032g0041	1	100	0.0100	-44	c.576 others(61): Show c.576+2944_576+2987delTATATATATATATATATATATATATATA TATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(37): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00597.hp2 others(16): Show HG00140.hp1 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp1 HG01175.hp2 HG01346.hp1 HG01515.hp1 HG01978.hp2 HG02055.hp2 HG02080.hp1 HG02615.hp2 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03710.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 a0001c0001t0073 a0001c0001t0080 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0002g0160 others(16): Show a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0003g0180 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0258 a0001c0001t0006g0231 a0001c0001t0010g0046 a0001c0001t0011g0170 a0001c0001t0015g0205 a0001c0001t0036g0010 a0001c0001t0073g0144 a0001c0001t0080g0175 a0001c0002t0003g0133 a0001c0002t0005g0064	19	262	0.0725	-44	c.197 others(63): Show c.197-23589_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SASH1_chr6_148337838_148557044	148387560	TCTTTTCT others(37): Show TCTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0250 a0002c0002t0007g0250	1	322	0.0031	-44	c.157 others(61): Show c.157-2573_157-2530delCTTTTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp2 HG01516.hp1 others(13): Show HG01243.hp2 HG01358.hp2 HG01516.hp1 HG01884.hp2 HG02055.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0006c0022	a0001c0001t0002 a0001c0001t0009 a0001c0003t0005 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0003t0005 a0001c0003t0012 a0001c0003t0026 a0001c0007t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0018 a0002c0004t0005 a0002c0004t0011 a0006c0022t0002	a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0009g0165 others(13): Show a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0009g0165 a0001c0001t0009g0173 a0001c0003t0005g0097 a0001c0003t0012g0280 a0001c0003t0026g0286 a0001c0007t0005g0322 a0002c0002t0002g0169 a0002c0002t0003g0224 a0002c0002t0004g0019 a0002c0002t0015g0312 a0002c0002t0018g0120 a0002c0004t0005g0271 a0002c0004t0011g0277 a0006c0022t0002g0025	16	322	0.0497	-44	c.157 others(61): Show c.157-2485_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0051 a0004c0004t0002g0051	1	232	0.0043	-44	c.-31 others(65): Show c.-312-47577_-312-47534delTATATATATATATATATATATATA TATATATATATATATATATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBNO2_chr19_1102638_1179268	1146761	TGAGGGTG others(37): Show TGAGGGTGGGGGTGGGGTCCGCCTGATGCCGAAGGGGGAGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0078 a0002c0003t0001g0078	1	203	0.0049	-44	c.279 others(59): Show c.279+504_279+547delCCAGCCTCCCCCTTCGGCATCAGGCGGACC CCACCCCCACCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG03130.hp1 HG01891.hp1 HG02630.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0024 a0001c0001t0024 a0001c0002t0024	a0001c0001t0024g0130 a0001c0001t0024g0134 a0001c0002t0024g0120 a0001c0001t0024g0130 a0001c0001t0024g0134 a0001c0002t0024g0120	3	314	0.0096	-44	c.63 others(55): Show c.6313_*6356delTATATATATATATATATATATATATATATATATA TATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar

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