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
RPL13_chr16_89555682_89569542	89566206	C C	CTGATCGG others(35): Show CTGATCGGGGATAGTCTCAGGAGGCGCTAGTCACGTGCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA19088.hp2 HG03688.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0001t0001g0001 a0001c0002t0002g0002	2	318	0.0063	42	c.31 others(53): Show c.3164_*3165insTGATCGGGGATAGTCTCAGGAGGCGCTAGTCACG TGCCCCGG	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1665		chr16	TogoVar
RPL13_chr16_89555682_89569542	89566240	G G	GTGCCCCG others(35): Show GTGCCCCGGTGATCGGGGATAGTCTCAGAAGGCGCTAGTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	383	0.0026	42	c.31 others(53): Show c.3198_*3199insTGCCCCGGTGATCGGGGATAGTCTCAGAAGGCGC TAGTCTCC	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1699		chr16	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	370	0.0027	42	c.-45 others(53): Show c.-4522_-4521insAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01934.hp1 HG03579.hp2 others(2): Show HG00140.hp1 HG01934.hp1 HG03579.hp2 NA18990.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0023 a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0023	5	374	0.0134	42	c.-45 others(53): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01993.hp2 HG00099.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	2	371	0.0054	42	c.-45 others(53): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18966.hp2 HG01346.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0076 a0001c0001t0002g0012 a0001c0001t0002g0076	2	236	0.0085	42	c.790 others(61): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008575	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0282 a0001c0001t0003g0279 a0001c0001t0003g0282	2	209	0.0096	42	c.790 others(61): Show c.790-15276_790-15275insTATATATATATATATATATATATATA TATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTATAT others(35): Show GTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	8	0.1250	42	c.790 others(61): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19004.hp1 HG00735.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0186 a0001c0001t0004g0230 a0001c0001t0001g0186 a0001c0001t0004g0230	2	9	0.2222	42	c.790 others(61): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(35): Show GTGTGTATATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	8	0.1250	42	c.790 others(61): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATACATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(35): Show GTGTGTGTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0262 a0001c0001t0001g0263	2	9	0.2222	42	c.790 others(61): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATACATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(35): Show GTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18988.hp2 HG01952.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0004g0205 a0001c0001t0001g0141 a0001c0001t0004g0205	2	9	0.2222	42	c.790 others(61): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATACACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS3_chr11_75394518_75411907	75411494	A A	ATTCTCCT others(35): Show ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	42	c.58 others(53): Show c.5884_*5885insTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGTGC	RPS3	ENSG00000149273.15	transcript	ENST00000531188.6	protein_coding		4588		chr11	TogoVar
RPS6KA6_chrX_84053350_84193199	84191895	T T	TATATATA others(35): Show TATATATATATCCATATATATATATCCATATATATATATATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	267	0.0037	42	c.-39 others(53): Show c.-3997_-3996insGGATATATATATATATGGATATATATATATGGAT ATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3697		chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	97	0.0103	42	c.472 others(57): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80699700	T T	TAGAGGTG others(35): Show TAGAGGTGCTGTGCACGGTGCCCTGGTGCAGTGATGGGGAGCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG03209.hp2 others(4): Show HG01884.hp1 HG02109.hp1 HG03209.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0012 a0001c0067 others(3): Show a0001c0005 a0001c0012 a0001c0067 a0001c0072 a0001c0075 a0002c0062	a0001c0005t0026 a0001c0005t0067 a0001c0012t0018 others(4): Show a0001c0005t0026 a0001c0005t0067 a0001c0012t0018 a0001c0067t0068 a0001c0072t0005 a0001c0075t0012 a0002c0062t0018	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0012t0018g0185 others(4): Show a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0012t0018g0185 a0001c0067t0068g0110 a0001c0072t0005g0076 a0001c0075t0012g0127 a0002c0062t0018g0182	7	193	0.0363	42	c.349 others(59): Show c.349-8100_349-8099insAAGAGGTGCTGTGCACGGTGCCCTGGTG CAGTGATGGGGAGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80699760	T T	TGCCCTGG others(35): Show TGCCCTGGTGCAGTGATGGGGAGCAAGAGGTGCTGTGCACGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG02273.hp2 others(3): Show HG00438.hp2 HG01516.hp1 HG02273.hp2 HG03831.hp1 HG03834.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0030 others(2): Show a0001c0003 a0001c0018 a0001c0030 a0001c0051 a0001c0052	a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 others(2): Show a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 a0001c0051t0060 a0001c0052t0003	a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0116 others(3): Show a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0051t0060g0115 a0001c0052t0003g0149	6	193	0.0311	42	c.349 others(59): Show c.349-8040_349-8039insCGCCCTGGTGCAGTGATGGGGAGCAAGA GGTGCTGTGCACGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841199	G G	GGCAGCTC others(35): Show GGCAGCTCACTCTCACCGCACGGCAGCTCACACTCACCGCACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(25): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG02280.hp1 HG02602.hp2 HG02976.hp1 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03688.hp1 HG04204.hp1 NA18963.hp1 NA19066.hp1 NA19070.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(17): Show a0001c0001 a0001c0003 a0001c0010 a0001c0013 a0001c0024 a0001c0025 a0001c0031 a0001c0032 a0001c0036 a0001c0037 a0001c0041 a0001c0042 a0001c0043 a0001c0072 a0001c0074 a0001c0076 a0001c0077 a0001c0094 a0001c0095 a0001c0097	a0001c0001t0092 a0001c0003t0001 a0001c0003t0013 others(22): Show a0001c0001t0092 a0001c0003t0001 a0001c0003t0013 a0001c0003t0014 a0001c0010t0056 a0001c0010t0071 a0001c0013t0013 a0001c0024t0037 a0001c0025t0051 a0001c0025t0052 a0001c0031t0027 a0001c0032t0033 a0001c0032t0098 a0001c0036t0004 a0001c0037t0053 a0001c0041t0004 a0001c0042t0055 a0001c0043t0007 a0001c0072t0005 a0001c0074t0032 a0001c0076t0011 a0001c0077t0086 a0001c0094t0057 a0001c0095t0003 a0001c0097t0001	a0001c0001t0092g0029 a0001c0003t0001g0156 a0001c0003t0001g0186 others(25): Show a0001c0001t0092g0029 a0001c0003t0001g0156 a0001c0003t0001g0186 a0001c0003t0001g0190 a0001c0003t0013g0045 a0001c0003t0014g0105 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0013t0013g0061 a0001c0024t0037g0095 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0031t0027g0173 a0001c0032t0033g0039 a0001c0032t0098g0052 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0053g0139 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0007g0176 a0001c0072t0005g0076 a0001c0074t0032g0060 a0001c0076t0011g0087 a0001c0077t0086g0195 a0001c0094t0057g0137 a0001c0095t0003g0138 a0001c0097t0001g0155	28	172	0.1628	42	c.121 others(61): Show c.1212+3232_1212+3233insACTCACCGCACCGCAGCTCACTCTCA CCGCACGGCAGCTCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA18612.hp2 others(2): Show HG02896.hp2 HG02897.hp2 NA18612.hp2 NA18952.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0009 a0001c0001t0002g0129 a0001c0001t0022g0249 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0129 a0001c0001t0022g0249 a0001c0001t0022g0250	5	115	0.0435	42	c.445 others(59): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	52	0.0192	42	c.408 others(59): Show c.408+1346_408+1347insATATATATATATATATATATATATATAT ATATATATATATAT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5			chr11	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0067 a0002c0001t0067	a0002c0001t0067g0085 a0002c0001t0067g0085	1	129	0.0078	42	c.30 others(53): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC ACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	74	0.0135	42	c.290 others(61): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar
RSPH14_chr22_23054415_23146990	23106109	C C	CCCGCCAC others(35): Show CCCGCCACATATCACACTTACCCCCTGGGGCTCTGCCTCCTCA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	312	0.0032	42	c.421 others(61): Show c.421+27916_421+27917insTGAGGAGGCAGAGCCCCAGGGGGTAA GTGTGATATGTGGCGG	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG02155.hp2 others(5): Show HG01255.hp2 HG01358.hp2 HG02155.hp2 HG03239.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0269 others(5): Show a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0002t0001g0058 a0001c0002t0001g0094 a0001c0002t0001g0105 a0001c0002t0001g0130	8	19	0.4211	42	c.421 others(59): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH1_chr21_42467486_42501224	42477043	G G	GTGCCCCA others(35): Show GTGCCCCACACCCTCTGCCCCCCTCCACCCCACAGCCCGGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	327	0.0031	42	c.727 others(57): Show c.727+247_727+248insTCCCCGGGCTGTGGGGTGGAGGGGGGCAGA GGGTGTGGGGCA	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSRC1_chr3_158105089_158550730	158106571	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	43	0.0233	42	c.-36 others(53): Show c.-3655_-3654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3517		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158106624	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0211 a0001c0001t0011g0211	1	274	0.0036	42	c.-36 others(53): Show c.-3602_-3601insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAAGA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3464		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	78	0.0128	42	c.321 others(57): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(35): Show TTTTATATATATATATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0008 a0001c0001t0022g0008	1	78	0.0128	42	c.321 others(57): Show c.321-509_321-508insTTATATATATATATACATATATATATATAT ATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 NA18944.hp2 HG02615.hp1 HG02922.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0001g0216 a0001c0001t0002g0026 a0001c0001t0001g0174 a0001c0001t0001g0216 a0001c0001t0002g0026	3	80	0.0375	42	c.321 others(57): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG01891.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0022 a0001c0001t0009 a0001c0001t0022	a0001c0001t0009g0010 a0001c0001t0022g0008 a0001c0001t0009g0010 a0001c0001t0022g0008	2	22	0.0909	42	c.652 others(61): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp2 HG03195.hp2 others(3): Show HG00597.hp2 HG01981.hp2 HG03195.hp2 NA18948.hp2 NA18999.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0023 a0001c0001t0002 a0001c0001t0007 a0001c0001t0023	a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0007g0037 others(3): Show a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0007g0037 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0023g0104	6	26	0.2308	42	c.652 others(61): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16688879	G G	GTGCCTGT others(35): Show GTGCCTGTAGTCCCAGGTACTAGGGAAGCTGAGGCAGGGGGAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp2 HG03041.hp1 others(1): Show HG00642.hp2 HG02451.hp2 HG03041.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0016 a0001c0002t0040 others(1): Show a0001c0002t0006 a0001c0002t0016 a0001c0002t0040 a0001c0002t0045	a0001c0002t0006g0132 a0001c0002t0016g0012 a0001c0002t0040g0063 others(1): Show a0001c0002t0006g0132 a0001c0002t0016g0012 a0001c0002t0040g0063 a0001c0002t0045g0023	4	188	0.0213	42	c.731 others(59): Show c.731+6102_731+6143dupATCCCCCTGCCTCAGCTTCCCTAGTACC TGGGACTACAGGCA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTEL1_chr20_63653312_63701245	63693528	T T	TCCACCTC others(35): Show TCCACCTCCACCTCCACCACCTCCACCTCCACCACGTCCACCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0042 a0003c0006t0001g0042	1	46	0.0217	42	c.299 others(59): Show c.2992+250_2992+251insTCCACCTCCACCACCTCCACCTCCACCA CGTCCACCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL8A_chrX_135045932_135057135	135055284	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	177	0.0056	42	c.-31 others(53): Show c.-3177_-3176insATATATATATATATATATATATATATATATATAT ATATTTTT	RTL8A	ENSG00000203950.7	transcript	ENST00000370775.3	protein_coding		3150		chrX	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCCC others(35): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	50	0.0200	42	c.-42 others(53): Show c.-4230_-4229insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4142		chr3	TogoVar
RTP5_chr2_241864729_241878823	241873426	G G	GCCCCCCC others(35): Show GCCCCCCCGCCTCCGAGACCCCGCCTCACCTCCGACGCCCCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0002 a0002c0002t0027g0002	1	359	0.0028	42	c.15 others(51): Show c.158_*159insCGCCTCCGAGACCCCGCCTCACCTCCGACGCCCCGC CCCCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	159	INFO_REALIGN_3_PRIME	chr2	TogoVar
RTP5_chr2_241864729_241878823	241873426	G G	GCCCCCCG others(35): Show GCCCCCCGCCTCCGAGACCCCCGCCTCACCTCCGACGCCCCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0002 a0002c0002t0030g0002	1	359	0.0028	42	c.17 others(51): Show c.172_*173insCGCCTCACCTCCGACGCCCCGCCCCCCCGCCTCCGA GACCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	173	INFO_REALIGN_3_PRIME	chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(35): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG02280.hp1 others(7): Show HG00140.hp1 HG00609.hp1 HG02280.hp1 HG02280.hp2 HG02723.hp1 HG02738.hp2 HG03654.hp2 NA18961.hp2 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0018 a0001c0002t0002g0328 a0001c0002t0002g0344 others(7): Show a0001c0001t0001g0018 a0001c0002t0002g0328 a0001c0002t0002g0344 a0001c0002t0002g0347 a0001c0002t0002g0354 a0001c0002t0002g0357 a0001c0002t0002g0359 a0001c0002t0002g0367 a0001c0002t0002g0371 a0001c0002t0002g0372	10	228	0.0439	42	c.-58 others(49): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550528	C C	CCCCGCGC others(35): Show CCCCGCGCCCGCCCGCCCCCATCCCGCGCCCGCCCGCCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0375 a0001c0002t0002g0376 a0001c0002t0002g0375 a0001c0002t0002g0376	2	372	0.0054	42	c.-42 others(49): Show c.-42_-41insCCCGCGCCCGCCCGCCCCCATCCCGCGCCCGCCCGCCC CCAT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		25		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(35): Show CCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18968.hp2 NA18975.hp1 NA18950.hp1 NA18968.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0075	3	177	0.0169	42	c.-34 others(49): Show c.-34_-33insCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCAC CCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	5	0.2000	42	c.535 others(59): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(35): Show CCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03579.hp1 HG01081.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0049 a0001c0003 a0001c0049	a0001c0003t0001 a0001c0049t0010 a0001c0003t0001 a0001c0049t0010	a0001c0003t0001g0063 a0001c0049t0010g0044 a0001c0003t0001g0063 a0001c0049t0010g0044	2	10	0.2000	42	c.49- others(59): Show c.49-32540_49-32539insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0022 a0002c0031t0022	a0002c0031t0022g0056 a0002c0031t0022g0056	1	52	0.0192	42	c.774 others(59): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA TATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(35): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20300.hp1 HG01496.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0047 a0001c0003 a0001c0047	a0001c0003t0003 a0001c0047t0002 a0001c0003t0003 a0001c0047t0002	a0001c0003t0003g0084 a0001c0047t0002g0077 a0001c0003t0003g0084 a0001c0047t0002g0077	2	69	0.0290	42	c.170 others(61): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTCTTCT TTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0009 a0009	a0009c0055 a0009c0055	a0009c0055t0005 a0009c0055t0005	a0009c0055t0005g0060 a0009c0055t0005g0060	1	68	0.0147	42	c.51+ others(59): Show c.51+68592_51+68593insCTCTCTCTCTCTCTCTCTCTATATATAT ATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794348	A A	ACATATAT others(35): Show ACATATATTATATATATATAACATATATAACATATATATATGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(71): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp2 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp2 HG03471.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0017 a0018 a0023 a0025 a0026 a0027 a0028 a0030 a0031 a0035 a0046 a0047 a0049 a0050 a0051 a0052 a0053	a0001c0001 a0001c0002 a0001c0003 others(53): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0001c0079 a0001c0096 a0001c0101 a0002c0044 a0002c0051 a0002c0090 a0003c0085 a0004c0006 a0004c0016 a0004c0068 a0004c0069 a0004c0070 a0004c0113 a0005c0008 a0005c0022 a0005c0028 a0005c0032 a0005c0040 a0006c0061 a0006c0062 a0006c0097 a0007c0026 a0007c0073 a0008c0007 a0008c0018 a0008c0019 a0009c0054 a0010c0112 a0011c0063 a0013c0057 a0013c0123 a0014c0025 a0017c0108 a0018c0102 a0023c0107 a0025c0036 a0026c0117 a0027c0124 a0028c0114 a0030c0100 a0031c0052 a0035c0094 a0046c0109 a0047c0056 a0049c0111 a0050c0060 a0051c0033 a0052c0034 a0053c0067	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0009t0002 a0001c0013t0001 a0001c0013t0005 a0001c0079t0006 a0001c0096t0001 a0001c0101t0001 a0002c0044t0003 a0002c0051t0007 a0002c0090t0001 a0003c0085t0002 a0004c0006t0001 a0004c0006t0005 a0004c0016t0002 a0004c0016t0007 a0004c0068t0001 a0004c0069t0006 a0004c0070t0001 a0004c0113t0001 a0005c0008t0001 a0005c0022t0002 a0005c0028t0003 a0005c0032t0003 a0005c0040t0013 a0006c0061t0001 a0006c0062t0001 a0006c0097t0001 a0007c0026t0002 a0007c0073t0001 a0008c0007t0001 a0008c0018t0003 a0008c0019t0001 a0009c0054t0001 a0010c0112t0003 a0011c0063t0001 a0013c0057t0003 a0013c0123t0003 a0014c0025t0001 a0017c0108t0003 a0018c0102t0001 a0023c0107t0003 a0025c0036t0010 a0026c0117t0002 a0027c0124t0001 a0028c0114t0003 a0030c0100t0001 a0031c0052t0001 a0035c0094t0003 a0046c0109t0005 a0047c0056t0001 a0049c0111t0001 a0050c0060t0001 a0051c0033t0003 a0052c0034t0001 a0053c0067t0004	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 others(71): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0002g0030 a0001c0001t0002g0099 a0001c0001t0005g0008 a0001c0001t0010g0094 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0002g0102 a0001c0002t0007g0146 a0001c0003t0001g0032 a0001c0003t0002g0037 a0001c0004t0001g0036 a0001c0004t0001g0127 a0001c0004t0003g0104 a0001c0005t0001g0027 a0001c0005t0001g0117 a0001c0009t0002g0100 a0001c0009t0002g0132 a0001c0013t0001g0026 a0001c0013t0005g0085 a0001c0079t0006g0038 a0001c0096t0001g0120 a0001c0101t0001g0128 a0002c0044t0003g0105 a0002c0051t0007g0136 a0002c0090t0001g0076 a0003c0085t0002g0056 a0004c0006t0001g0119 a0004c0006t0001g0149 a0004c0006t0005g0098 a0004c0016t0002g0103 a0004c0016t0007g0116 a0004c0068t0001g0033 a0004c0069t0006g0009 a0004c0070t0001g0010 a0004c0113t0001g0095 a0005c0008t0001g0019 a0005c0022t0002g0147 a0005c0028t0003g0086 a0005c0032t0003g0072 a0005c0040t0013g0145 a0006c0061t0001g0022 a0006c0062t0001g0108 a0006c0097t0001g0081 a0007c0026t0002g0109 a0007c0073t0001g0138 a0008c0007t0001g0101 a0008c0018t0003g0034 a0008c0019t0001g0001 a0009c0054t0001g0112 a0010c0112t0003g0020 a0011c0063t0001g0126 a0013c0057t0003g0082 a0013c0123t0003g0047 a0014c0025t0001g0057 a0017c0108t0003g0087 a0018c0102t0001g0078 a0023c0107t0003g0003 a0025c0036t0010g0088 a0026c0117t0002g0123 a0027c0124t0001g0061 a0028c0114t0003g0011 a0030c0100t0001g0021 a0031c0052t0001g0137 a0035c0094t0003g0070 a0046c0109t0005g0040 a0047c0056t0001g0093 a0049c0111t0001g0028 a0050c0060t0001g0125 a0051c0033t0003g0152 a0052c0034t0001g0092 a0053c0067t0004g0069	74	147	0.5034	42	c.983 others(61): Show c.9830+5890_9830+5891insCATATATTATATATATATAACATATA TAACATATATATATGT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33860725	A A	AAACAATA others(35): Show AAACAATAGGTTTTACTATTACTTAGGGCCAGTACTAAGCAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp1 NA19030.hp1 NA21309.hp1	a0005 a0007 a0005 a0007	a0005c0040 a0007c0072 a0005c0040 a0007c0072	a0005c0040t0013 a0007c0072t0004 a0005c0040t0013 a0007c0072t0004	a0005c0040t0013g0145 a0007c0072t0004g0045 a0005c0040t0013g0145 a0007c0072t0004g0045	2	152	0.0132	42	c.143 others(60): Show c.14364+70_14364+111dupAATAGGTTTTACTATTACTTAGGGCCA GTACTAAGCAAGAAC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	101/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0134 a0001c0001t0006g0134	1	4	0.2500	42	c.-20 others(51): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(35): Show GTGCGCACGCACACACACACATACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0274 a0001c0023t0007g0274	1	241	0.0041	42	c.157 others(61): Show c.157-21366_157-21365insTGCGCACGCACACACACACATACACA CACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar

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