Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	136	0.0074	32	c.104 others(53): Show c.1045-24951_1045-24950insTATATATATATATATATATATATA TATATATA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80561239	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0002 a0001c0008t0036g0002	1	99	0.0101	32	c.162 others(51): Show c.162+15459_162+15460insATATATATATATATGTATATATATAT ATATAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0033 a0001c0032t0033	a0001c0032t0033g0039 a0001c0032t0033g0039	1	38	0.0263	32	c.349 others(51): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	38	0.0263	32	c.349 others(51): Show c.349-22213_349-22212insATATATATATATATATATTTTTTTTT TTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80739155	A A	ACGGAGGC others(25): Show ACGGAGGCCGAGGGGCTCGCCCTGCCCCCGACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(71): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0047 a0001c0048 a0001c0049 a0001c0053 a0001c0055 a0001c0057 a0001c0059 a0001c0060 a0001c0064 a0001c0066 a0001c0068 a0001c0071 a0001c0074 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0083 a0001c0084 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0003c0069 a0005c0092	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(99): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0001 a0001c0003t0014 a0001c0003t0038 a0001c0004t0001 a0001c0004t0014 a0001c0004t0023 a0001c0004t0035 a0001c0005t0026 a0001c0005t0074 a0001c0005t0075 a0001c0006t0022 a0001c0006t0063 a0001c0006t0076 a0001c0006t0082 a0001c0006t0087 a0001c0007t0069 a0001c0008t0021 a0001c0008t0036 a0001c0008t0081 a0001c0009t0001 a0001c0009t0078 a0001c0010t0009 a0001c0010t0056 a0001c0010t0071 a0001c0011t0029 a0001c0011t0047 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0013t0021 a0001c0015t0007 a0001c0015t0046 a0001c0016t0029 a0001c0016t0031 a0001c0017t0015 a0001c0018t0017 a0001c0019t0042 a0001c0020t0048 a0001c0020t0093 a0001c0021t0018 a0001c0021t0079 a0001c0022t0001 a0001c0022t0022 a0001c0023t0007 a0001c0024t0037 a0001c0025t0052 a0001c0026t0043 a0001c0027t0016 a0001c0027t0097 a0001c0028t0005 a0001c0029t0025 a0001c0029t0085 a0001c0031t0027 a0001c0033t0023 a0001c0034t0004 a0001c0036t0004 a0001c0037t0053 a0001c0038t0006 a0001c0039t0061 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0007 a0001c0044t0045 a0001c0045t0091 a0001c0047t0012 a0001c0048t0073 a0001c0049t0011 a0001c0053t0006 a0001c0055t0049 a0001c0057t0077 a0001c0059t0080 a0001c0060t0001 a0001c0064t0005 a0001c0066t0058 a0001c0068t0025 a0001c0071t0088 a0001c0074t0032 a0001c0076t0011 a0001c0077t0086 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0001c0083t0028 a0001c0084t0059 a0001c0086t0004 a0001c0087t0002 a0001c0088t0006 a0001c0089t0005 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001 a0003c0069t0044 a0005c0092t0012	a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(104): Show a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 a0001c0002t0040g0108 a0001c0003t0001g0156 a0001c0003t0014g0105 a0001c0003t0038g0090 a0001c0004t0001g0152 a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0004t0023g0077 a0001c0004t0035g0004 a0001c0005t0026g0151 a0001c0005t0074g0009 a0001c0005t0075g0008 a0001c0006t0022g0093 a0001c0006t0063g0160 a0001c0006t0076g0183 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0069g0128 a0001c0008t0021g0094 a0001c0008t0036g0002 a0001c0008t0081g0019 a0001c0009t0001g0125 a0001c0009t0078g0021 a0001c0010t0009g0057 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0011t0029g0196 a0001c0011t0047g0079 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0061 a0001c0013t0021g0096 a0001c0015t0007g0140 a0001c0015t0007g0146 a0001c0015t0046g0082 a0001c0016t0029g0184 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0017t0015g0085 a0001c0018t0017g0141 a0001c0019t0042g0092 a0001c0020t0048g0097 a0001c0020t0093g0034 a0001c0021t0018g0014 a0001c0021t0079g0006 a0001c0022t0001g0130 a0001c0022t0022g0098 a0001c0023t0007g0132 a0001c0024t0037g0095 a0001c0025t0052g0181 a0001c0026t0043g0099 a0001c0027t0016g0189 a0001c0027t0097g0059 a0001c0028t0005g0124 a0001c0029t0025g0153 a0001c0029t0085g0012 a0001c0031t0027g0173 a0001c0033t0023g0078 a0001c0034t0004g0131 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0053g0139 a0001c0038t0006g0178 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0007g0176 a0001c0044t0045g0083 a0001c0045t0091g0036 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0049t0011g0081 a0001c0053t0006g0122 a0001c0055t0049g0086 a0001c0057t0077g0016 a0001c0059t0080g0005 a0001c0060t0001g0135 a0001c0064t0005g0074 a0001c0066t0058g0126 a0001c0068t0025g0107 a0001c0071t0088g0035 a0001c0074t0032g0060 a0001c0076t0011g0087 a0001c0077t0086g0195 a0001c0078t0041g0103 a0001c0079t0050g0100 a0001c0080t0011g0080 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0086t0004g0172 a0001c0087t0002g0050 a0001c0088t0006g0142 a0001c0089t0005g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0157 a0001c0094t0057g0137 a0001c0095t0003g0138 a0001c0096t0072g0171 a0001c0097t0001g0155 a0003c0069t0044g0102 a0005c0092t0012g0163	107	194	0.5515	32	c.654 others(49): Show c.654+8470_654+8471insTGCCCCCGACGCGGAGGCCGAGGGGCTC GCCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840649	C C	CACCGCAC others(25): Show CACCGCACGGCAGCTCACATTCACCGCACGGCA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0072 a0001c0096t0072	a0001c0096t0072g0171 a0001c0096t0072g0171	1	194	0.0052	32	c.121 others(51): Show c.1212+2652_1212+2653insACCGCACGGCAGCTCACATTCACCGC ACGGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840670	C C	CACCGCAC others(25): Show CACCGCACGGCAGCTCACATTCACCGCACGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01071.hp1 others(2): Show HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01978.hp2	a0001 a0001	a0001c0014 a0001c0023 a0001c0024 others(1): Show a0001c0014 a0001c0023 a0001c0024 a0001c0073	a0001c0014t0002 a0001c0023t0002 a0001c0024t0002 others(1): Show a0001c0014t0002 a0001c0023t0002 a0001c0024t0002 a0001c0073t0002	a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0023t0002g0048 others(2): Show a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0023t0002g0048 a0001c0024t0002g0047 a0001c0073t0002g0069	5	194	0.0258	32	c.121 others(51): Show c.1212+2673_1212+2674insACCGCACGGCAGCTCACATTCACCGC ACGGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33			chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp1 NA18953.hp2 others(3): Show HG02055.hp1 HG03139.hp1 NA18953.hp2 NA19043.hp1 NA19067.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0006g0103 others(3): Show a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0018g0114 a0001c0001t0019g0337	6	116	0.0517	32	c.445 others(49): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0150 a0001c0001t0001g0209 a0001c0001t0005g0081 a0001c0001t0001g0150 a0001c0001t0001g0209 a0001c0001t0005g0081	3	54	0.0556	32	c.408 others(49): Show c.408+1315_408+1346dupATATATATATATATATATATATATATAT ATAT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5			chr11	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0273 a0001c0003t0002g0273	1	109	0.0092	32	c.176 others(49): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATAT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRP12_chr10_97351701_97406340	97398020	T T	TATACATA others(25): Show TATACATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0201 a0001c0011t0001g0201	1	397	0.0025	32	c.370 others(49): Show c.370-1720_370-1719insGTATATGTATATATATATATATATATAT GTAT	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RRP12_chr10_97351701_97406340	97398039	A A	ATATATAT others(25): Show ATATATATATATATGTATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	294	0.0034	32	c.370 others(49): Show c.370-1739_370-1738insAATACATATATATATATACATATATATA TATA	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG01928.hp1 others(5): Show HG00735.hp2 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG02004.hp1 HG02132.hp2 HG06807.hp2 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0069 a0003c0004t0011 a0002c0001t0069 a0003c0004t0011	a0002c0001t0069g0111 a0003c0004t0011g0027 a0003c0004t0011g0047 others(2): Show a0002c0001t0069g0111 a0003c0004t0011g0027 a0003c0004t0011g0047 a0003c0004t0011g0210 a0003c0004t0011g0212	8	358	0.0223	32	c.30 others(43): Show c.3061_*3062insACACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG03453.hp2 others(2): Show HG02723.hp1 HG02818.hp1 HG03453.hp2 NA18940.hp1 NA19067.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0001 a0004c0005 a0001c0006 a0002c0001 a0004c0005	a0001c0006t0082 a0002c0001t0030 a0004c0005t0084 others(1): Show a0001c0006t0082 a0002c0001t0030 a0004c0005t0084 a0004c0005t0087	a0001c0006t0082g0201 a0002c0001t0030g0068 a0002c0001t0030g0089 others(2): Show a0001c0006t0082g0201 a0002c0001t0030g0068 a0002c0001t0030g0089 a0004c0005t0084g0053 a0004c0005t0087g0216	5	133	0.0376	32	c.30 others(43): Show c.3059_*3060insACACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	101	0.0099	32	c.587 others(51): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0145 a0001c0001t0029g0145	1	84	0.0119	32	c.51 others(43): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding		1297		chr7	TogoVar
RSPH1_chr21_42467486_42501224	42477110	C C	CCCCACAG others(25): Show CCCCACAGCCTGGGGATGCCCCACACCCTCTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02451.hp1 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0297 a0001c0001t0002g0022 a0001c0001t0002g0297	3	405	0.0074	32	c.727 others(47): Show c.727+180_727+181insACAGAGGGTGTGGGGCATCCCCAGGCTGTG GG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477111	T T	TCCACAGC others(25): Show TCCACAGCCCGGGGATGCCCCACACCCTCTGTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	285	0.0035	32	c.727 others(47): Show c.727+179_727+180insGACAGAGGGTGTGGGGCATCCCCGGGCTGT GG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477125	A A	ATGCCCCA others(25): Show ATGCCCCACACCCTCTGTCCCACAGCCCGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	292	0.0034	32	c.727 others(47): Show c.727+165_727+166insCCCCCGGGCTGTGGGACAGAGGGTGTGGGG CA	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477156	C C	CAGCCCGG others(25): Show CAGCCCGGGGGTGCCCCACACCCTCTGTCCCAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0065 a0004c0010t0001g0065	1	406	0.0025	32	c.727 others(47): Show c.727+134_727+135insATGGGACAGAGGGTGTGGGGCACCCCCGGG CT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477166	A A	ATGCCCCA others(25): Show ATGCCCCACACCCTCTGTCCCACAGCCCGGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG02145.hp1 others(10): Show HG00408.hp1 HG00597.hp1 HG02145.hp1 HG02258.hp1 HG03453.hp2 HG03710.hp2 NA18612.hp1 NA18969.hp2 NA18990.hp2 NA18999.hp2 NA19005.hp2 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0001g0204 a0001c0001t0002g0141 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0204 a0001c0001t0002g0141 a0001c0001t0003g0002 a0001c0001t0003g0054 a0001c0001t0003g0063 a0001c0001t0003g0159 a0001c0001t0003g0189 a0001c0002t0001g0014 a0001c0002t0001g0128	13	318	0.0409	32	c.727 others(47): Show c.727+124_727+125insCCCCCGGGCTGTGGGACAGAGGGTGTGGGG CA	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477265	C C	CCCCACAG others(25): Show CCCCACAGCCCGGGGATGCCCCACACCCTCTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	406	0.0025	32	c.727 others(45): Show c.727+25_727+26insACAGAGGGTGTGGGGCATCCCCGGGCTGTGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSRC1_chr3_158105089_158550730	158106571	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	43	0.0233	32	c.-36 others(43): Show c.-3655_-3654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3517		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	78	0.0128	32	c.321 others(47): Show c.321-491_321-490insATATATATATATATATATATATATATATAT AT	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(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02622.hp1 HG02683.hp1 others(8): Show HG01981.hp1 HG02622.hp1 HG02683.hp1 HG02735.hp2 HG03209.hp1 HG04184.hp1 NA18747.hp1 NA18994.hp2 NA19011.hp1 NA19054.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0100 others(8): Show a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0004g0078 a0001c0001t0006g0027 a0001c0001t0015g0085 a0001c0001t0015g0087 a0001c0001t0016g0064	11	88	0.1250	32	c.321 others(47): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT AT	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(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18971.hp2 NA19240.hp1 HG02109.hp1 NA18971.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0196 a0001c0001t0009g0006 a0001c0001t0009g0039 a0001c0001t0004g0196 a0001c0001t0009g0006 a0001c0001t0009g0039	3	23	0.1304	32	c.652 others(51): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATATAT	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(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03041.hp1 HG06807.hp2 others(1): Show HG02523.hp2 HG03041.hp1 HG06807.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021	a0001c0001t0002g0024 a0001c0001t0011g0198 a0001c0001t0020g0142 others(1): Show a0001c0001t0002g0024 a0001c0001t0011g0198 a0001c0001t0020g0142 a0001c0001t0021g0020	4	24	0.1667	32	c.652 others(51): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16683160	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19010.hp1 HG02738.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0002g0038 a0001c0001t0001g0085 a0001c0001t0002g0038	2	95	0.0211	32	c.731 others(51): Show c.731+11862_731+11863insACACACACACACACACACACACACAC ACACAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTL4_chrX_112078016_112462514	112161844	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	19	0.0526	32	c.-44 others(53): Show c.-445+30746_-445+30747insCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112161844	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	19	0.0526	32	c.-44 others(53): Show c.-445+30746_-445+30747insCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112309811	C C	CACACATA others(25): Show CACACATATATACATATATATACATATATGTAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	132	0.0076	32	c.-28 others(51): Show c.-285+3305_-285+3336dupTATATATACATATATGTATACACATA TATACA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59606103	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	103	0.0097	32	c.197 others(49): Show c.1974-598_1974-597insATATATATATATATATATATATATATAT ATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59749568	G G	GATATCTA others(25): Show GATATCTATATATTTATATATATATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02622.hp1 others(7): Show HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 others(7): Show a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0005c0008t0001g0170	10	167	0.0599	32	c.242 others(49): Show c.242-3088_242-3087insATAGATAGATATATATATAAATATATAG ATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	8	0.1250	32	c.142 others(49): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN3_chr11_63676500_63764882	63735550	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0105	1	25	0.0400	32	c.253 others(53): Show c.2531-14421_2531-14390dupCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTP5_chr2_241864729_241878823	241877273	A A	AAGGCTGG others(25): Show AAGGCTGGCACCGTCGCTACAACCCACCCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	364	0.0027	32	c.39 others(43): Show c.3999_*4000insAGGCTGGCACCGTCGCTACAACCCACCCCAGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3451		chr2	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0131 a0002c0002t0005g0131	1	119	0.0084	32	c.925 others(47): Show c.925+191_925+192insATATATATATATATATATATATATATATAT AT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUBCNL_chr13_46329681_46392252	46388303	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0030 a0008c0008t0030	a0008c0008t0030g0296 a0008c0008t0030g0296	1	352	0.0028	32	c.-14 others(43): Show c.-1409_-1408insTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding		1052		chr13	TogoVar
RUFY2_chr10_68338408_68412277	68366759	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0256	1	219	0.0046	32	c.132 others(51): Show c.1326-2647_1326-2646insTTATATATATATATATATATATATAT ATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68368334	A A	AAATTTCT others(25): Show AAATTTCTCAAATTATTATATTTGAGAAATATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02723.hp2 others(7): Show HG01433.hp2 HG02145.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0037 a0001c0001t0008 a0001c0001t0016 a0001c0001t0037	a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0008g0263 others(7): Show a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0008g0264 a0001c0001t0008g0265 a0001c0001t0008g0267 a0001c0001t0016g0259 a0001c0001t0016g0261 a0001c0001t0016g0266 a0001c0001t0037g0171	10	274	0.0365	32	c.132 others(51): Show c.1326-4253_1326-4222dupAATATTTCTCAAATATAATAATTTGA GAAATT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY3_chr4_70716964_70813619	70765209	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp1 HG02155.hp1 others(5): Show HG00673.hp2 HG02083.hp1 HG02155.hp1 HG03239.hp2 NA18950.hp1 NA18961.hp1 NA19060.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012	a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0042 others(5): Show a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0060 a0001c0001t0006g0145 a0001c0001t0006g0150 a0001c0001t0012g0040	8	142	0.0563	32	c.572 others(47): Show c.572+634_572+635insGTGTATATATATATATACATATATATATAT AT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70765213	A A	ATATATAT others(25): Show ATATATATATACATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0224 a0001c0001t0034g0224	1	252	0.0040	32	c.572 others(47): Show c.572+647_572+648insCATATATATATATATATATATGTATATATA TA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0183 a0001c0001t0038g0183	1	86	0.0116	32	c.238 others(49): Show c.238+1709_238+1710insTATATATATATATATATATATATATATA TATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0068 a0001c0005t0068	a0001c0005t0068g0131 a0001c0005t0068g0131	1	57	0.0175	32	c.88+ others(49): Show c.88+15411_88+15412insCACACACACATATATATATATATATATA TATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(25): Show ATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0030 a0001c0001t0010g0030	1	57	0.0175	32	c.88+ others(49): Show c.88+15411_88+15412insCACACACACACACATATATATATATATA TATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(25): Show ATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0127 a0001c0001t0037g0127	1	57	0.0175	32	c.88+ others(49): Show c.88+15411_88+15412insCACACACACACACACACACATATATATA TATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0148 a0001c0006t0006g0148	1	106	0.0094	32	c.59- others(49): Show c.59-37308_59-37307insTATATATATATATATATATATATACACA CACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX3_chr1_24894511_24935276	24934793	G G	GGGAAGAG others(25): Show GGGAAGAGCTAGCATCTAGATACAGAGGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	384	0.0026	32	c.-49 others(43): Show c.-4957_-4926dupTCTTTCCTCTGTATCTAGATGCTAGCTCTTCC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding		4518		chr1	TogoVar
RUVBL1_chr3_128075810_128128812	128124573	T T	TTAGCACA others(25): Show TTAGCACAACCTGCACCACAATTGTACTTGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	358	0.0028	32	c.-88 others(41): Show c.-881_-850dupTGGCAAGTACAATTGTGGTGCAGGTTGTGCTA	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding		762		chr3	TogoVar
RWDD3_chr1_95229210_95252225	95231621	C C	CAGTAGCC others(25): Show CAGTAGCCTGTGAATACGAGGAAAATATACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	428	0.0023	32	c.-26 others(43): Show c.-2610_-2609insAGTAGCCTGTGAATACGAGGAAAATATACAAA	RWDD3	ENSG00000122481.17	transcript	ENST00000370202.5	protein_coding		2588		chr1	TogoVar

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