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
RPTOR_chr17_80539838_80971368	80841157	G G	GGCAGCTC others(14): Show GGCAGCTCACACTCACCACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(22): 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 HG01934.hp1 HG02280.hp1 HG02976.hp1 HG03017.hp1 HG03453.hp1 HG03688.hp1 HG04204.hp1 NA18963.hp1 NA19066.hp1 NA19070.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(16): Show a0001c0001 a0001c0003 a0001c0010 a0001c0013 a0001c0024 a0001c0025 a0001c0031 a0001c0032 a0001c0036 a0001c0037 a0001c0041 a0001c0042 a0001c0043 a0001c0074 a0001c0076 a0001c0077 a0001c0094 a0001c0095 a0001c0097	a0001c0001t0092 a0001c0003t0001 a0001c0003t0013 others(21): Show a0001c0001t0092 a0001c0003t0001 a0001c0003t0013 a0001c0003t0014 a0001c0010t0056 a0001c0010t0071 a0001c0013t0013 a0001c0024t0037 a0001c0025t0051 a0001c0025t0052 a0001c0031t0027 a0001c0032t0033 a0001c0032t0098 a0001c0036t0004 a0001c0037t0053 a0001c0041t0004 a0001c0042t0055 a0001c0043t0007 a0001c0074t0032 a0001c0076t0011 a0001c0077t0086 a0001c0094t0057 a0001c0095t0003 a0001c0097t0001	a0001c0001t0092g0029 a0001c0003t0001g0186 a0001c0003t0013g0045 others(22): Show a0001c0001t0092g0029 a0001c0003t0001g0186 a0001c0003t0013g0045 a0001c0003t0014g0105 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0013t0013g0061 a0001c0024t0037g0095 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0031t0027g0173 a0001c0032t0033g0039 a0001c0032t0098g0052 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0053g0139 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0007g0176 a0001c0074t0032g0060 a0001c0076t0011g0087 a0001c0077t0086g0195 a0001c0094t0057g0137 a0001c0095t0003g0138 a0001c0097t0001g0155	25	179	0.1397	21	c.121 others(40): Show c.1212+3169_1212+3170insACTCACCACACAGCAGCTCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841157	G G	GGCAGCTC others(14): Show GGCAGCTCACACTCACCGCACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0005 a0001c0072t0005	a0001c0072t0005g0076 a0001c0072t0005g0076	1	155	0.0065	21	c.121 others(40): Show c.1212+3169_1212+3170insACTCACCGCACCGCAGCTCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841188	A A	ACTCACCG others(14): Show ACTCACCGCACGGCAGCTCACT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01517.hp1 NA19009.hp2 others(1): Show HG01109.hp2 HG01517.hp1 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0058 others(1): Show a0001c0003 a0001c0004 a0001c0058 a0001c0091	a0001c0003t0038 a0001c0004t0023 a0001c0058t0004 others(1): Show a0001c0003t0038 a0001c0004t0023 a0001c0058t0004 a0001c0091t0016	a0001c0003t0038g0090 a0001c0004t0023g0077 a0001c0058t0004g0154 others(1): Show a0001c0003t0038g0090 a0001c0004t0023g0077 a0001c0058t0004g0154 a0001c0091t0016g0166	4	137	0.0292	21	c.121 others(40): Show c.1212+3244_1212+3264dupGGCAGCTCACTCTCACCGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841287	G G	GCTCACTC others(14): Show GCTCACTCTCACCACACGGCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp2 others(22): Show HG00140.hp1 HG00323.hp2 HG00544.hp2 HG01074.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02683.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03831.hp2 HG06807.hp1 NA18944.hp2 NA18980.hp2 NA19005.hp2 NA19007.hp1 NA19057.hp1 NA19082.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0010 others(11): Show a0001c0001 a0001c0003 a0001c0010 a0001c0013 a0001c0014 a0001c0023 a0001c0024 a0001c0031 a0001c0033 a0001c0034 a0001c0035 a0001c0078 a0001c0081 a0004c0082	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0003t0004 a0001c0003t0010 a0001c0010t0009 a0001c0010t0095 a0001c0013t0013 a0001c0013t0021 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0023t0007 a0001c0023t0009 a0001c0024t0003 a0001c0031t0011 a0001c0033t0023 a0001c0033t0099 a0001c0034t0004 a0001c0035t0010 a0001c0035t0096 a0001c0078t0041 a0001c0081t0002 a0004c0082t0010	a0001c0001t0002g0038 a0001c0001t0008g0043 a0001c0001t0009g0030 others(22): Show a0001c0001t0002g0038 a0001c0001t0008g0043 a0001c0001t0009g0030 a0001c0001t0019g0056 a0001c0003t0004g0119 a0001c0003t0010g0068 a0001c0010t0009g0057 a0001c0010t0095g0053 a0001c0013t0013g0064 a0001c0013t0021g0096 a0001c0013t0089g0046 a0001c0014t0002g0055 a0001c0014t0034g0071 a0001c0023t0007g0132 a0001c0023t0009g0070 a0001c0024t0003g0133 a0001c0031t0011g0073 a0001c0033t0023g0078 a0001c0033t0099g0026 a0001c0034t0004g0191 a0001c0035t0010g0062 a0001c0035t0096g0041 a0001c0078t0041g0103 a0001c0081t0002g0022 a0004c0082t0010g0051	25	45	0.5556	21	c.121 others(40): Show c.1212+3301_1212+3302insCACACGGCACCTCACTCTCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841547	C C	CTCACTCT others(14): Show CTCACTCTCACCGCACGGCAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01074.hp1 others(13): Show HG00423.hp2 HG00438.hp2 HG01074.hp1 HG01361.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 NA18980.hp1 NA19009.hp1 NA19057.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 others(10): Show a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0017 a0001c0018 a0001c0028 a0001c0029 a0001c0038 a0001c0045 a0001c0068	a0001c0004t0014 a0001c0006t0013 a0001c0006t0022 others(12): Show a0001c0004t0014 a0001c0006t0013 a0001c0006t0022 a0001c0007t0084 a0001c0008t0021 a0001c0009t0028 a0001c0011t0047 a0001c0011t0062 a0001c0017t0008 a0001c0018t0016 a0001c0028t0019 a0001c0029t0025 a0001c0038t0006 a0001c0045t0091 a0001c0068t0025	a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0006t0013g0067 others(13): Show a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0006t0013g0067 a0001c0006t0022g0093 a0001c0007t0084g0007 a0001c0008t0021g0094 a0001c0009t0028g0113 a0001c0011t0047g0079 a0001c0011t0062g0114 a0001c0017t0008g0031 a0001c0018t0016g0120 a0001c0028t0019g0024 a0001c0029t0025g0153 a0001c0038t0006g0178 a0001c0045t0091g0036 a0001c0068t0025g0107	16	194	0.0825	21	c.121 others(40): Show c.1212+3571_1212+3591dupATCACTCTCACCGCACGGCAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841804	A A	ACTCACCG others(14): Show ACTCACCGCACGGCAGCTCACT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0070 a0001c0093t0070	a0001c0093t0070g0157 a0001c0093t0070g0157	1	191	0.0052	21	c.121 others(40): Show c.1212+3828_1212+3848dupTCTCACCGCACGGCAGCTCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD2_chr15_40564299_40579949	40577080	A A	ATTTTATT others(14): Show ATTTTATTTTATTTTATTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01517.hp1 others(33): Show HG00280.hp1 HG01070.hp2 HG01517.hp1 HG01928.hp1 HG01952.hp2 HG02080.hp2 HG02129.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 NA18612.hp2 NA18943.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18982.hp1 NA18990.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19084.hp2 NA19087.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0003g0001	36	120	0.3000	21	c.28 others(32): Show c.2819_*2820insTTTTATTTTATTTTATTTTAT	RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding		2132		chr15	TogoVar
RRAD_chr16_66916685_66930535	66924678	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01952.hp2 NA19004.hp1 others(2): Show HG00544.hp2 HG01952.hp2 NA19004.hp1 NA19004.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	5	290	0.0172	21	c.370 others(36): Show c.370+111_370+131dupATTATTATTATTATTATTATT	RRAD	ENSG00000166592.13	transcript	ENST00000299759.11	protein_coding	2/4			chr16	TogoVar
RRAD_chr16_66916685_66930535	66929022	A A	ACAGGGTG others(14): Show ACAGGGTGTTGCTCTGTCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	21	c.-36 others(32): Show c.-3630_-3629insGGGTGACAGAGCAACACCCTG	RRAD	ENSG00000166592.13	transcript	ENST00000299759.11	protein_coding		3488		chr16	TogoVar
RRAGC_chr1_38833198_38864772	38836544	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	132	0.0076	21	c.30 others(32): Show c.3008_*3009insTTTTTTTTTTTTTTTTTTTTT	RRAGC	ENSG00000116954.8	transcript	ENST00000373001.4	protein_coding		1653		chr1	TogoVar
RRAS2_chr11_14272922_14364183	14280726	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	19	0.0526	21	c.527 others(36): Show c.527+855_527+875dupTTTTTTTTTTTTTTTTTTTTT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	5/5			chr11	TogoVar
RRM1_chr11_4089799_4143932	4130087	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02273.hp2 HG02257.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0281 a0001c0003t0002g0251 a0001c0001t0001g0281 a0001c0003t0002g0251	2	311	0.0064	21	c.176 others(38): Show c.1769+937_1769+938insATATATATATATATATATATA	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18			chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03540.hp2 HG03130.hp1 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0040 a0001c0001t0001g0154	3	265	0.0113	21	c.685 others(38): Show c.685-1807_685-1787dupTTTTTTTTTTTTTTTTTTTTT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8			chr8	TogoVar
RSAD1_chr17_50473860_50490974	50483211	A A	AAGAAAGA others(14): Show AAGAAAGAAAGAAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG02615.hp1 others(5): Show HG01099.hp1 HG01106.hp2 HG02615.hp1 HG02630.hp2 HG03225.hp1 HG03540.hp2 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0038 a0001c0003t0003g0009 a0001c0003t0003g0038	8	372	0.0215	21	c.905 others(36): Show c.905-128_905-127insGAAAGAAAGAAAAGAAAGACA	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02165.hp1 HG00280.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0140 a0001c0001t0007g0013 a0001c0001t0004g0140 a0001c0001t0007g0013	2	85	0.0235	21	c.51 others(32): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding		1297		chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02040.hp2 NA19078.hp1 HG02015.hp1 HG02040.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0288 a0001c0001t0001g0335 a0001c0001t0004g0247 a0001c0001t0001g0288 a0001c0001t0001g0335 a0001c0001t0004g0247	3	8	0.3750	21	c.89 others(32): Show c.8905_*8906insTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding		1997		chr11	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01975.hp2 HG02056.hp2 others(13): Show HG01433.hp1 HG01975.hp2 HG02056.hp2 HG02148.hp2 HG02602.hp2 HG02647.hp1 HG03710.hp2 HG04228.hp1 NA18942.hp1 NA18946.hp2 NA18953.hp2 NA18963.hp1 NA18973.hp1 NA18977.hp2 NA18986.hp1 NA19085.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0014 a0001c0001 a0002c0003 a0009c0014	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0002c0003t0002 a0002c0003t0008 a0009c0014t0005	a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0115 others(13): Show a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0261 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0026g0256 a0001c0001t0027g0260 a0001c0001t0040g0116 a0002c0003t0002g0213 a0002c0003t0008g0266 a0009c0014t0005g0258	16	89	0.1798	21	c.290 others(40): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77729895	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp2 NA18955.hp1 others(5): Show HG00639.hp1 HG01975.hp2 NA18955.hp1 NA18966.hp2 NA19004.hp1 NA19011.hp2 NA19063.hp1 NA19090.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0013 a0001c0001 a0002c0003 a0010c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0060 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0060 a0002c0003t0002 a0010c0013t0007	a0001c0001t0001g0264 a0001c0001t0005g0252 a0001c0001t0005g0253 others(5): Show a0001c0001t0001g0264 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0255 a0001c0001t0060g0257 a0002c0003t0002g0203 a0002c0003t0002g0205 a0010c0013t0007g0262	8	68	0.1176	21	c.579 others(38): Show c.579-4217_579-4197dupTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15			chr11	TogoVar
RSPH14_chr22_23054415_23146990	23070353	T T	TGGCGGCG others(14): Show TGGCGGCGGGCGGCGGGCGGCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20905.hp2 HG01081.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0244 a0001c0002t0001g0083 a0001c0001t0001g0244 a0001c0002t0001g0083	2	161	0.0124	21	c.422 others(38): Show c.422-6241_422-6221dupCGCCGCCCGCCGCCCGCCGCC	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPO2_chr8_107894316_108088620	107949404	G G	GATATCCA others(14): Show GATATCCACTCTTTATCCACTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0230 a0001c0001t0004g0232	2	238	0.0084	21	c.616 others(38): Show c.616+8675_616+8676insGAGTGGATAAAGAGTGGATAT	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	5/5			chr8	TogoVar
RSPO3_chr6_127113671_127204481	127117836	A A	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	121	0.0083	21	c.-13 others(32): Show c.-1357_-1356insGGAAGGAAGGAAGGAAGGAAG	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		834		chr6	TogoVar
RSPO4_chr20_953452_1007311	996227	G G	GTTCCATT others(14): Show GTTCCATTCCATTCCGTTACCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(22): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG01952.hp1 HG02135.hp1 HG02451.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG03831.hp1 NA18747.hp2 NA18906.hp2 NA18954.hp2 NA18955.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA19006.hp2 NA19062.hp2 NA19066.hp2 NA19074.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0028 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0002c0002t0052	a0001c0001t0001g0162 a0001c0001t0002g0036 a0001c0001t0002g0037 others(17): Show a0001c0001t0001g0162 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0005g0253 a0001c0001t0013g0010 a0001c0001t0013g0254 a0001c0001t0014g0259 a0001c0001t0028g0043 a0001c0001t0042g0257 a0001c0001t0043g0264 a0001c0001t0044g0263 a0002c0002t0052g0258	25	373	0.0670	21	c.79+ others(36): Show c.79+5838_79+5858dupTGGTAACGGAATGGAATGGAA	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	1/4			chr20	TogoVar
RSRC1_chr3_158105089_158550730	158364816	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	55	0.0182	21	c.583 others(38): Show c.583+9922_583+9942dupATAATAATAATAATAATAATA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158487949	G G	GGAAAAAA others(14): Show GGAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	53	0.0189	21	c.652 others(40): Show c.652+26946_652+26947insGAAAAAAAAAAAAAAAAAAAA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9			chr3	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	96	0.0104	21	c.653 others(40): Show c.653-18943_653-18942insATATATATATATATTTTTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0150 a0001c0001t0017g0150	1	128	0.0078	21	c.52 others(32): Show c.5253_*5254insAAAAAAAAAAAAAAAAAAAAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG03688.hp2 NA18977.hp2 HG00741.hp2 HG03688.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0203 a0001c0001t0008g0112 a0001c0001t0008g0136 a0001c0001t0007g0203 a0001c0001t0008g0112 a0001c0001t0008g0136	3	130	0.0231	21	c.52 others(32): Show c.5253_*5254insAAAAAAAAAAAAAAAAAATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02897.hp2 HG02809.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0191 a0001c0001t0009g0034 a0001c0001t0004g0191 a0001c0001t0009g0034	2	129	0.0155	21	c.52 others(32): Show c.5253_*5254insAAAAAAAAAAAAAAAATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RTEL1_chr20_63653312_63701245	63678585	G G	GGAACAGC others(14): Show GGAACAGCACACACACTCCCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00642.hp2 others(40): Show HG00621.hp1 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0017 a0003c0006 a0004c0005 a0005c0009 a0006c0018 a0007c0010 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0011t0002 a0001c0017t0001 a0003c0006t0001 a0004c0005t0001 a0005c0009t0002 a0006c0018t0002 a0007c0010t0001 a0010c0013t0002	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 others(40): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0007t0001g0035 a0001c0011t0002g0008 a0001c0017t0001g0053 a0003c0006t0001g0042 a0003c0006t0001g0043 a0004c0005t0001g0051 a0004c0005t0001g0060 a0005c0009t0002g0017 a0006c0018t0002g0018 a0007c0010t0001g0036 a0010c0013t0002g0015	43	58	0.7414	21	c.103 others(38): Show c.1037+283_1037+303dupAACAGCACACACACTCCCACG	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTF2_chr20_56463627_56524449	56505487	C C	CATAATAA others(14): Show CATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01952.hp2 NA18973.hp2 HG00673.hp2 HG01952.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0144 a0001c0001t0001g0256 a0001c0001t0004g0078 a0001c0001t0001g0144 a0001c0001t0001g0256 a0001c0001t0004g0078	3	43	0.0698	21	c.478 others(38): Show c.478-7818_478-7798dupATAATAATAATAATAATAATA	RTF2	ENSG00000022277.13	transcript	ENST00000357348.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL10_chr22_19841146_19859874	19847804	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01192.hp2 others(1): Show HG00738.hp1 HG00741.hp2 HG01192.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0014 a0001c0001t0011g0014	4	173	0.0231	21	c.33 others(32): Show c.3342_*3362dupTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3362		chr22	TogoVar
RTL4_chrX_112078016_112462514	112226971	T T	TAAATAAA others(14): Show TAAATAAAATAAAATAAAACAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 NA18906.hp2 HG02922.hp1 HG03130.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0004 a0002c0001t0001 a0001c0002t0002 a0001c0002t0004 a0002c0001t0001	a0001c0002t0002g0018 a0001c0002t0004g0017 a0002c0001t0001g0019 a0001c0002t0002g0018 a0001c0002t0004g0017 a0002c0001t0001g0019	3	101	0.0297	21	c.-44 others(42): Show c.-444-79388_-444-79387insATAAAATAAAATAAAACAAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	8	0.1250	21	c.142 others(38): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN3_chr11_63676500_63764882	63735601	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG02615.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0114 a0002c0002t0006g0158 a0002c0002t0002g0114 a0002c0002t0006g0158	2	161	0.0124	21	c.253 others(42): Show c.2531-14390_2531-14389insCTCTCTCTCTCTCTCTCTCTC	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8			chr11	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(14): Show TGCCCGCCCGCCCCCACCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp2 others(43): Show HG00140.hp2 HG00280.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp2 HG02015.hp1 HG02129.hp2 HG02257.hp1 HG02273.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03927.hp2 HG04115.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18990.hp2 NA19000.hp2 NA19004.hp2 NA19011.hp2 NA19030.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0004t0003	a0001c0001t0002g0098 a0001c0001t0002g0265 a0001c0001t0002g0358 others(43): Show a0001c0001t0002g0098 a0001c0001t0002g0265 a0001c0001t0002g0358 a0001c0002t0002g0041 a0001c0002t0002g0139 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0342 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0353 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0360 a0001c0002t0002g0361 a0001c0002t0002g0365 a0001c0002t0002g0368 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0003t0002g0331 a0001c0004t0003g0177 a0001c0004t0003g0178 a0001c0004t0003g0214	46	264	0.1742	21	c.-58 others(28): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550513	G G	GCCCGCCC others(14): Show GCCCGCCCGCCCCCACCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02615.hp2 HG00639.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0011 a0001c0001t0001g0012	2	374	0.0053	21	c.-57 others(28): Show c.-57_-56insCCCGCCCGCCCCCACCCCGCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		40		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550528	C C	CCCCGCGC others(14): Show CCCCGCGCCCGCCCGCCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG01175.hp2 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0340 a0001c0002t0002g0341	2	372	0.0054	21	c.-42 others(28): Show c.-42_-41insCCCGCGCCCGCCCGCCCCCAT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		25		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(15): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG02004.hp2 HG02895.hp2 HG03017.hp1 HG03453.hp2 HG03831.hp1 NA18940.hp2 NA18950.hp1 NA18968.hp2 NA18988.hp2 NA19009.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0001c0001t0001 a0001c0001t0004 a0001c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0045 others(15): Show a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0004g0109 a0001c0007t0001g0141	18	65	0.2769	21	c.891 others(38): Show c.891-1288_891-1268dupTTTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179585656	C C	CATCTTCT others(14): Show CATCTTCTCTGAGTTAATTGGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0217 a0001c0003t0002g0217	1	374	0.0027	21	c.957 others(36): Show c.957-139_957-119dupATCTTCTCTGAGTTAATTGGA	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0003 a0001c0001t0024 a0001c0002t0003	a0001c0001t0024g0146 a0001c0002t0003g0120 a0001c0001t0024g0146 a0001c0002t0003g0120	2	105	0.0190	21	c.59- others(38): Show c.59-16626_59-16625insTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930300	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	167	0.0060	21	c.59- others(38): Show c.59-37338_59-37337insATATATATATATATATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03669.hp2 HG03579.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0030 a0001c0001t0023g0106 a0001c0001t0001g0030 a0001c0001t0023g0106	2	15	0.1333	21	c.59- others(38): Show c.59-74377_59-74357dupTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35022895	G G	GAATAATA others(14): Show GAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01109.hp2 others(2): Show HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01496.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 a0001c0002t0007	a0001c0001t0001g0039 a0001c0001t0001g0112 a0001c0001t0009g0159 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0112 a0001c0001t0009g0159 a0001c0001t0020g0070 a0001c0002t0007g0043	5	71	0.0704	21	c.58+ others(38): Show c.58+25926_58+25946dupATTATTATTATTATTATTATT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUSC2_chr9_35485111_35566895	35495022	T T	TTATATAT others(14): Show TTATATATTATATATACTATAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	320	0.0031	21	c.-93 others(38): Show c.-93+4858_-93+4878dupTATATATACTATAGTATATAT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUSC2_chr9_35485111_35566895	35495030	T T	TATATATA others(14): Show TATATATACTATAGTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01069.hp2 others(32): Show HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp2 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp2 NA19030.hp1 NA19030.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0017 a0001c0001 a0001c0002 a0006c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0006c0017t0003	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0032 others(31): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0068 a0001c0001t0001g0256 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0006g0030 a0001c0001t0006g0039 a0001c0001t0011g0251 a0001c0002t0001g0031 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0033 a0006c0017t0003g0016	35	320	0.1094	21	c.-93 others(38): Show c.-93+4879_-93+4899dupAATATATACTATAGTATATAT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUSC2_chr9_35485111_35566895	35500146	A A	ACTGTATT others(14): Show ACTGTATTAGTCTGTTTTTATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01069.hp2 others(43): Show HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18951.hp2 NA18998.hp2 NA19007.hp1 NA20129.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0017 a0001c0001 a0001c0002 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0006c0017t0003	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0032 others(42): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0002g0051 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0199 a0001c0001t0005g0195 a0001c0001t0005g0200 a0001c0001t0006g0030 a0001c0001t0006g0039 a0001c0001t0010g0248 a0001c0001t0011g0251 a0001c0002t0001g0031 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0033 a0006c0017t0003g0016	46	320	0.1438	21	c.-93 others(38): Show c.-93+9978_-93+9998dupTATTAGTCTGTTTTTATGCTG	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19068.hp2 HG00741.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0283 a0001c0001t0001g0107 a0001c0001t0001g0283	2	6	0.3333	21	c.535 others(38): Show c.535-1968_535-1948dupTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RWDD4_chr4_183634635_183664185	183654734	G G	GAGGACAG others(14): Show GAGGACAGTGGAGCTAAGTCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0263 a0001c0003t0002g0263	1	478	0.0021	21	c.105 others(38): Show c.105+1146_105+1147insAGGACTTAGCTCCACTGTCCT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	2/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19088.hp2 HG01358.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0107 a0001c0001t0001g0021 a0001c0001t0001g0107	2	26	0.0769	21	c.49+ others(38): Show c.49+20085_49+20086insATATATATATATATATATTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG00738.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0182 a0001c0001t0001g0135 a0001c0001t0001g0182	2	26	0.0769	21	c.49+ others(38): Show c.49+20085_49+20086insATATATATATATATATTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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