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
PTPRG_chr3_61556571_62302609	61818821	TTAAAGTG others(43): Show TTAAAGTGAAATAGTGAAATAGTGAATAGTGAAATAGTGAATAGTGAAAT A	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA21309.hp1 HG02896.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0034 a0001c0001t0016g0029 a0001c0001t0001g0034 a0001c0001t0016g0029	2	94	0.0213	-50	c.190 others(69): Show c.190+69840_190+69889delTAAAGTGAAATAGTGAAATAGTGAAT AGTGAAATAGTGAATAGTGAAATA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29			chr3	TogoVar
PTPRM_chr18_7562316_8411856	8289514	GTATATAT others(43): Show GTATATATATACATATATATACACATATATATATATACATATATATACAC A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02809.hp2 HG02976.hp2 others(3): Show HG00639.hp1 HG02809.hp2 HG02976.hp2 HG03130.hp2 NA18959.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0014t0001 a0001c0017t0001	a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0005g0026 others(3): Show a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0005g0026 a0001c0003t0001g0041 a0001c0014t0001g0014 a0001c0017t0001g0060	6	80	0.0750	-50	c.275 others(69): Show c.2755-6843_2755-6794delCATATATATACACATATATATATATA CATATATATACACATATATATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRT_chr20_42067756_43194906	42634011	AATATATA others(43): Show AATATATATATAATATATATATTATATATATTATATATATATTATAAATA T	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0019 a0002c0001t0011g0020 a0002c0001t0011g0019 a0002c0001t0011g0020	2	62	0.0323	-50	c.115 others(71): Show c.1153+43805_1153+43854delATATTTATAATATATATATAATAT ATATAATATATATATTATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43175983	AGAGACCC others(43): Show AGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCAGCCTGGCAACAGAG C	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0036 a0001c0002t0006g0036	1	62	0.0161	-50	c.88+ others(67): Show c.88+13613_88+13662delGCTCTGTTGCCAGGCTGGAGTGCAGTGG CACAGTCAGAGCCCAGGGTCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43176083	CGAGACCC others(43): Show CGAGACCCTGGGCTCTGACTGTGCCACTGCACTCCAGCCTGGCAACAGAG A	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0045 a0001c0022t0021g0045	1	62	0.0161	-50	c.88+ others(67): Show c.88+13513_88+13562delTCTCTGTTGCCAGGCTGGAGTGCAGTGG CACAGTCAGAGCCCAGGGTCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PXDN_chr2_1626887_1749515	1731282	ACTTCCTG others(43): Show ACTTCCTGGACATGCAGCTGACCTCCGCATCCCAGCACCCTTGCATCTGG G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(130): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18962.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18985.hp2 NA18997.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0014	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0022 a0001c0023 a0001c0028 a0001c0032 a0001c0037 a0001c0039 a0001c0044 a0001c0045 a0001c0046 a0002c0009 a0003c0018 a0004c0017 a0005c0041 a0006c0047 a0008c0025 a0011c0027 a0014c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0005t0007 a0001c0005t0024 a0001c0006t0004 a0001c0007t0006 a0001c0007t0029 a0001c0008t0002 a0001c0010t0008 a0001c0012t0016 a0001c0012t0017 a0001c0013t0001 a0001c0014t0013 a0001c0015t0003 a0001c0016t0007 a0001c0019t0003 a0001c0019t0009 a0001c0022t0014 a0001c0023t0004 a0001c0028t0001 a0001c0032t0028 a0001c0037t0006 a0001c0039t0006 a0001c0044t0025 a0001c0045t0002 a0001c0046t0003 a0002c0009t0011 a0003c0018t0005 a0004c0017t0001 a0005c0041t0002 a0006c0047t0001 a0008c0025t0020 a0011c0027t0002 a0014c0048t0001	a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0044 others(130): Show a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0214 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0211 a0001c0001t0003g0117 a0001c0001t0005g0055 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0300 a0001c0001t0009g0039 a0001c0001t0009g0068 a0001c0001t0009g0073 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0318 a0001c0001t0021g0160 a0001c0001t0022g0320 a0001c0002t0002g0077 a0001c0002t0002g0092 a0001c0002t0002g0201 a0001c0002t0003g0051 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0060 a0001c0002t0003g0074 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0131 a0001c0002t0003g0142 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0148 a0001c0002t0003g0159 a0001c0002t0003g0169 a0001c0002t0003g0279 a0001c0003t0001g0035 a0001c0003t0001g0110 a0001c0003t0001g0141 a0001c0003t0002g0038 a0001c0003t0002g0124 a0001c0003t0012g0123 a0001c0004t0004g0121 a0001c0004t0004g0153 a0001c0004t0004g0204 a0001c0004t0004g0207 a0001c0005t0007g0154 a0001c0005t0007g0155 a0001c0005t0007g0161 a0001c0005t0007g0205 a0001c0005t0007g0206 a0001c0005t0024g0203 a0001c0006t0004g0232 a0001c0006t0004g0284 a0001c0006t0004g0286 a0001c0007t0006g0076 a0001c0007t0029g0156 a0001c0008t0002g0297 a0001c0010t0008g0049 a0001c0012t0016g0122 a0001c0012t0017g0167 a0001c0013t0001g0163 a0001c0014t0013g0145 a0001c0015t0003g0116 a0001c0016t0007g0064 a0001c0019t0003g0010 a0001c0019t0009g0050 a0001c0022t0014g0047 a0001c0023t0004g0231 a0001c0028t0001g0150 a0001c0032t0028g0046 a0001c0037t0006g0285 a0001c0039t0006g0045 a0001c0044t0025g0210 a0001c0045t0002g0119 a0001c0046t0003g0011 a0002c0009t0011g0081 a0002c0009t0011g0149 a0003c0018t0005g0048 a0004c0017t0001g0127 a0004c0017t0001g0128 a0005c0041t0002g0133 a0006c0047t0001g0040 a0008c0025t0020g0172 a0011c0027t0002g0129 a0014c0048t0001g0322	133	322	0.4130	-50	c.200 others(69): Show c.200+12924_200+12973delCCCAGATGCAAGGGTGCTGGGATGCG GAGGTCAGCTGCATGTCCAGGAAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141248803	GTATATAT others(43): Show GTATATATACACACGTATATATATACACACACGTGTATATATACACACGT A	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp2 HG02615.hp2 others(1): Show HG00738.hp2 HG02451.hp2 HG02615.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0013 a0001c0001t0002 a0001c0001t0003 a0001c0003t0013	a0001c0001t0002g0357 a0001c0001t0003g0065 a0001c0003t0013g0268 others(1): Show a0001c0001t0002g0357 a0001c0001t0003g0065 a0001c0003t0013g0268 a0001c0003t0013g0269	4	384	0.0104	-50	c.-53 others(69): Show c.-53-11295_-53-11246delCACACACGTGTATATATACACACGTA TATATATACACACGTATATATATA	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
QSOX2_chr9_136201333_136250812	136236901	AGCCCGTC others(43): Show AGCCCGTCCTGTGCCACACCTGGAGCCCGTCCTGGGCCTGCATCACCTGG T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0169 a0001c0004t0011g0169	1	392	0.0026	-50	c.328 others(67): Show c.328+8525_328+8574delACCAGGTGATGCAGGCCCAGGACGGGCT CCAGGTGTGGCACAGGACGGGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237524	ACACCTGG others(43): Show ACACCTGGAGCCCGTCCTGTGCCACACCTGGAGCCCGTCCTGTGGCGGCG T	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0170 a0001c0002t0073g0170	1	392	0.0026	-50	c.328 others(67): Show c.328+7902_328+7951delACGCCGCCACAGGACGGGCTCCAGGTGT GGCACAGGACGGGCTCCAGGTG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(43): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02135.hp1 NA18949.hp1 others(2): Show HG01943.hp1 HG02135.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0003 a0001c0002t0009	a0001c0002t0003g0013 a0001c0002t0003g0047 a0001c0002t0003g0337 others(2): Show a0001c0002t0003g0013 a0001c0002t0003g0047 a0001c0002t0003g0337 a0001c0002t0003g0347 a0001c0002t0009g0188	5	428	0.0117	-50	c.22 others(61): Show c.2221_*2270delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1130		chr6	TogoVar
RABGAP1L_chr1_174154520_175000308	174573191	GTGTGTGT others(43): Show GTGTGTGTATATATGTGTGACATATATACACACTATATATGTTTATATGT A	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01516.hp2 others(6): Show HG01074.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG03453.hp1 HG03688.hp1 HG03831.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0023	a0001c0001t0006g0199 a0001c0001t0008g0100 a0001c0001t0008g0126 others(6): Show a0001c0001t0006g0199 a0001c0001t0008g0100 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0008g0130 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0022g0200 a0001c0001t0023g0198	9	272	0.0331	-50	c.171 others(71): Show c.1711-64120_1711-64071delGTGTGACATATATACACACTATAT ATGTTTATATGTATGTGTGTATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD23B_chr9_107278279_107337189	107293084	TTCCTCAC others(43): Show TTCCTCACATGGCTAACAGCTTGGTGATGGTTATTGACTGGAGGCCTCAG A	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	346	0.0058	-50	c.67- others(65): Show c.67-7051_67-7002delACATGGCTAACAGCTTGGTGATGGTTATTG ACTGGAGGCCTCAGATCCTC	RAD23B	ENSG00000119318.13	transcript	ENST00000358015.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAD51B_chr14_67814779_68483093	68087916	TATATTAT others(43): Show TATATTATATATAATTATATAATTTATTATTATATATAATTATATAATTT A	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02080.hp1 HG02451.hp2 others(10): Show HG01081.hp2 HG02080.hp1 HG02451.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA19012.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0078	13	84	0.1548	-50	c.756 others(71): Show c.756+200713_756+200762delATATTATATATAATTATATAATTT ATTATTATATATAATTATATAATTTA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10			chr14	TogoVar
RAD9B_chr12_110497331_110538556	110507468	TATATATG others(43): Show TATATATGTATTAAATATAATACATAATATATGTATTAAATATAATACAT A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(161): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18973.hp1 NA18974.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19063.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0003t0001 a0002c0002t0001 a0002c0002t0013 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(121): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0003g0032 a0001c0001t0003g0053 a0001c0001t0003g0126 a0001c0001t0003g0174 a0001c0001t0009g0003 a0001c0001t0009g0079 a0001c0001t0011g0200 a0001c0001t0012g0134 a0001c0001t0015g0013 a0001c0001t0017g0009 a0001c0001t0018g0120 a0001c0003t0001g0082 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0059 a0002c0002t0001g0164 a0002c0002t0013g0060 a0005c0006t0001g0002	164	284	0.5775	-50	c.388 others(65): Show c.388+819_388+868delATACATAATATATGTATTAAATATAATACA TAATATATGTATTAAATATA	RAD9B	ENSG00000151164.19	transcript	ENST00000409300.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAI14_chr5_34651328_34837612	34665007	ATATATAT others(43): Show ATATATATATATGTGTATATATATATGTATATATATGTGTATATATATGT G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01891.hp2 others(15): Show HG00099.hp2 HG01074.hp1 HG01891.hp2 HG02027.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02723.hp1 HG03017.hp1 HG03453.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp2 NA18993.hp2 NA19077.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0003 a0001c0011 others(7): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0005 a0002c0007 a0002c0008 a0003c0004 a0007c0030 a0008c0025	a0001c0001t0001 a0001c0003t0003 a0001c0011t0004 others(8): Show a0001c0001t0001 a0001c0003t0003 a0001c0011t0004 a0002c0002t0002 a0002c0005t0001 a0002c0005t0004 a0002c0007t0006 a0002c0008t0004 a0003c0004t0001 a0007c0030t0002 a0008c0025t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0098 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0003t0003g0014 a0001c0011t0004g0102 a0002c0002t0002g0012 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0253 a0002c0005t0001g0013 a0002c0005t0004g0016 a0002c0007t0006g0103 a0002c0008t0004g0011 a0003c0004t0001g0141 a0007c0030t0002g0099 a0008c0025t0001g0252	18	254	0.0709	-50	c.-49 others(67): Show c.-49+8542_-49+8591delATGTGTATATATATATGTATATATATGT GTATATATATGTGTATATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RB1_chr13_48298751_48486890	48427121	TTCTACCA others(43): Show TTCTACCAAACCTCACCTCCAGCATTGGGGAGCACACTTCAACACGAGTC A	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	306	0.0033	-50	c.169 others(71): Show c.1696-25818_1696-25769delACCAAACCTCACCTCCAGCATTGG GGAGCACACTTCAACACGAGTCATCT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBBP9_chr20_18481540_18502225	18486123	TATAAATA others(43): Show TATAAATATATATAAAAATATATATGTAAATATAAATATATATATATGTA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0132 a0001c0001t0027g0132	1	454	0.0022	-50	c.35 others(61): Show c.3591_*3640delTTACATATATATATATTTATATTTACATATATAT TTTTATATATATTTAT	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		416		chr20	TogoVar
RBFOX1_chr16_7327845_7718340	7504737	ATATATAT others(43): Show ATATATATATATATATATTTATATATATATATATTTATATATATATATAT T	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp2 NA18953.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0039 a0001c0001t0001 a0001c0004t0039	a0001c0001t0001g0144 a0001c0004t0039g0167 a0001c0001t0001g0144 a0001c0004t0039g0167	2	234	0.0086	-50	c.88- others(67): Show c.88-13394_88-13345delATTTATATATATATATATTTATATATAT ATATATTTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7701131	CAAGCTAA others(43): Show CAAGCTAAGGAAGTCAGCAGCAATGAAACTCAAACAGAGCCAAGTAGAGA T	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0198 a0001c0009t0011g0198	1	234	0.0043	-50	c.111 others(69): Show c.1111+7765_1111+7814delAAGCTAAGGAAGTCAGCAGCAATGAA ACTCAAACAGAGCCAAGTAGAGAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	12/13			chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79491058	GGAGGGGA others(43): Show GGAGGGGAGGGGAGGGGAGGCGAGGGGAGGCGAGGGGAGGGGAGGGGAGG A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0026 a0001c0001t0021g0026	1	154	0.0065	-50	c.-31 others(69): Show c.-319-8510_-319-8461delTCCTCCCCTCCCCTCCCCTCGCCTCC CCTCGCCTCCCCTCCCCTCCCCTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512567	CCACCCAG others(43): Show CCACCCAGATACATGTTACCATCGGGTACAGCCCCATGGCCAGGGGACGC A	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	154	0.0065	-50	c.-31 others(71): Show c.-319-30019_-319-29970delTGCGTCCCCTGGCCATGGGGCTGT ACCCGATGGTAACATGTATCTGGGTG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512596	AGCCCCAT others(43): Show AGCCCCATGGCCAGGGGACGCACACCCGGATACATGTTACCATCGGGTAC G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03041.hp2 HG00639.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0008 a0001c0001t0021	a0001c0001t0008g0117 a0001c0001t0021g0026 a0001c0001t0008g0117 a0001c0001t0021g0026	2	154	0.0130	-50	c.-31 others(71): Show c.-319-30048_-319-29999delCGTACCCGATGGTAACATGTATCC GGGTGTGCGTCCCCTGGCCATGGGGC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512659	GGGGACAC others(43): Show GGGGACACCCACCCGGATACGTGTTACCATCGGGTACAGCCCCATGGCCA A	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0070 a0001c0001t0013g0070	1	154	0.0065	-50	c.-31 others(71): Show c.-319-30111_-319-30062delTTGGCCATGGGGCTGTACCCGATG GTAACACGTATCCGGGTGGGTGTCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512709	AGGGACAC others(43): Show AGGGACACCCACCCGGATACGTGTTACCATCGGGTACGGCCCCATGGCCA G	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	154	0.0065	-50	c.-31 others(71): Show c.-319-30161_-319-30112delCTGGCCATGGGGCCGTACCCGATG GTAACACGTATCCGGGTGGGTGTCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512767	CCACCCGG others(43): Show CCACCCGGATACGTGTTACCATCGGGTACGGCCCCATGGCCAGGGGACGC A	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	154	0.0065	-50	c.-31 others(71): Show c.-319-30219_-319-30170delTGCGTCCCCTGGCCATGGGGCCGT ACCCGATGGTAACACGTATCCGGGTG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512831	GTTACCAT others(43): Show GTTACCATCGGCTACGGCCCCATGGCCAGGGGACGCACACCCGGATACGT A	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	154	0.0065	-50	c.-31 others(71): Show c.-319-30283_-319-30234delTACGTATCCGGGTGTGCGTCCCCT GGCCATGGGGCCGTAGCCGATGGTAA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79513168	CACCTGGA others(43): Show CACCTGGATACATGTTACCATCAGGTACAGCCCCATGGCCAGGGGACACA T	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0034 a0001c0002t0011g0034	1	154	0.0065	-50	c.-31 others(71): Show c.-319-30620_-319-30571delATGTGTCCCCTGGCCATGGGGCTG TACCTGATGGTAACATGTATCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBL1_chr20_36991349_37100997	37000367	TGGGGGGG others(43): Show TGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	354	0.0028	-50	c.303 others(69): Show c.3037-1488_3037-1439delCACCTCCCTCCTGGATGGGGCGGCTG GCCGGGCGGGGGGCTAACCCCCCC	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL1_chr20_36991349_37100997	37000995	TGGCCAGC others(43): Show TGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACC C	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0032 a0001c0001t0004g0033	2	354	0.0057	-50	c.303 others(69): Show c.3037-2116_3037-2067delGGGTGGGGGGCTGACCCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCC	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBM20_chr10_110639336_110844468	110767136	GGATGGGG others(43): Show GGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01070.hp1 others(6): Show HG00140.hp1 HG00735.hp2 HG01070.hp1 HG01106.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0008	a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0114 others(6): Show a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0123 a0001c0001t0004g0061 a0001c0001t0004g0192 a0002c0002t0008g0069	9	268	0.0336	-50	c.192 others(69): Show c.192-13662_192-13613delTGGGGTGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCAGA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM38_chr20_57386396_57414333	57405717	CCAGGGCT others(43): Show CCAGGGCTCCTCTCTGACCCTGAGGGTCCCTGGCTCTGGGGAGGGAGCTC G	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	400	0.0025	-50	c.417 others(67): Show c.417-1758_417-1709delCCTGAGGGTCCCTGGCTCTGGGGAGGGA GCTCGCAGGGCTCCTCTCTGAC	RBM38	ENSG00000132819.17	transcript	ENST00000356208.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
REEP6_chr19_1486181_1502927	1499346	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG01261.hp2 others(21): Show HG00639.hp2 HG01169.hp2 HG01261.hp2 HG01884.hp1 HG01943.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03486.hp2 HG03688.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0091 a0001c0001t0002g0053 a0001c0001t0002g0116 others(11): Show a0001c0001t0001g0091 a0001c0001t0002g0053 a0001c0001t0002g0116 a0001c0001t0002g0150 a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0037 a0001c0001t0003g0044 a0001c0003t0002g0012 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0049 a0001c0003t0003g0045	24	318	0.0755	-50	c.21 others(61): Show c.2136_*2185delGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA ACCTCCCTCCCGGACG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1420		chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759483	ATATACAT others(43): Show ATATACATATATATATGTATGTATGTGTATACATACATATGTATGTATGT G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	452	0.0022	-50	c.-23 others(61): Show c.-2348_-2299delCACATACATACATATGTATGTATACACATACATA CATATATATATGTATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2074		chr3	TogoVar
REV3L_chr6_111294033_111488218	111422630	ACACATAT others(43): Show ACACATATATATATATATACATATATATATATACATATATATATATATAC G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	288	0.0035	-50	c.140 others(67): Show c.140-6208_140-6159delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTG	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFFL_chr17_35000990_35068707	35003538	GTCCTGAC others(43): Show GTCCTGACCTCAAGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGAT T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0030 a0001c0001t0043g0030	1	372	0.0027	-50	c.83 others(61): Show c.8380_*8429delAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGA TCACTTGAGGTCAGGA	RFFL	ENSG00000092871.17	transcript	ENST00000394597.7	protein_coding		2451		chr17	TogoVar
RFTN1_chr3_16310845_16518699	16404006	ATATATAT others(43): Show ATATATATTATATTTTATATATAATATATAATATATATTTTATATATATA T	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18984.hp1 NA18944.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0220 a0001c0002t0002g0187 a0001c0002t0002g0220	2	268	0.0075	-50	c.441 others(67): Show c.441+5319_441+5368delATATATATATAAAATATATATTATATAT TATATATAAAATATAATATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFX1_chr19_13956530_14011320	14011067	GATCACGA others(43): Show GATCACGAAGCTGGAGGAACCAGAGCCCATCTCTTTTCATGGGACTTTCC A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	280	0.0036	-50	c.-50 others(61): Show c.-5067_-5018delTGGAAAGTCCCATGAAAAGAGATGGGCTCTGGTT CCTCCAGCTTCGTGAT	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding		4748		chr19	TogoVar
RFX4_chr12_106578004_106767803	106620539	ACAAAGGG others(43): Show ACAAAGGGCAAAAGCAGAACTACTGATAAGGGTCCAACAAAGATCACAAG G	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp1 HG02074.hp2 HG00609.hp1 HG02027.hp1 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0048 a0001c0002t0001g0082 a0001c0002t0001g0001 a0001c0002t0001g0048 a0001c0002t0001g0082	3	296	0.0101	-50	c.130 others(69): Show c.130+11683_130+11732delAAGGGTCCAACAAAGATCACAAGGCA AAGGGCAAAAGCAGAACTACTGAT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX8_chr2_101392359_101480112	101468991	AGTATATA others(43): Show AGTATATATATACGTATATATATATAGGTATATATATATACGTATATATA T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(132): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0009 a0012 a0019	a0001c0001 a0002c0002 a0002c0020 others(7): Show a0001c0001 a0002c0002 a0002c0020 a0002c0021 a0003c0003 a0004c0004 a0007c0010 a0009c0006 a0012c0013 a0019c0019	a0001c0001t0001 a0002c0002t0001 a0002c0020t0001 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0020t0001 a0002c0021t0001 a0003c0003t0001 a0004c0004t0001 a0007c0010t0001 a0007c0010t0007 a0009c0006t0001 a0012c0013t0001 a0012c0013t0002 a0019c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0193 a0001c0001t0001g0197 others(122): Show a0001c0001t0001g0002 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0270 a0002c0002t0001g0273 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0299 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0310 a0002c0002t0001g0316 a0002c0020t0001g0244 a0002c0021t0001g0241 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0228 a0003c0003t0001g0235 a0003c0003t0001g0239 a0003c0003t0001g0278 a0003c0003t0001g0292 a0003c0003t0001g0300 a0003c0003t0001g0315 a0003c0003t0001g0317 a0003c0003t0001g0318 a0004c0004t0001g0272 a0007c0010t0001g0234 a0007c0010t0001g0260 a0007c0010t0007g0236 a0009c0006t0001g0158 a0012c0013t0001g0319 a0012c0013t0002g0092 a0019c0019t0001g0245	135	352	0.3835	-50	c.-52 others(67): Show c.-52-2141_-52-2092delATATATATACGTATATATATATACCTAT ATATATATACGTATATATATAC	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RGS13_chr1_192631147_192665311	192641190	AAAAAAGA others(43): Show AAAAAAGAAAAAAGGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	420	0.0024	-50	c.-5+ others(65): Show c.-5+2991_-5+3040delAAGAAAAAAGGAAAGAAAGAAAGAAAGAGA GAAAGAAAGAAAGAAAGAAA	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS6_chr14_71927429_72571530	72024076	ACGAGGAC others(43): Show ACGAGGACTCGGTAAATATTTGTTGAATGAATGAAAAATAATTGCTGCCT G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp1 others(65): Show HG00140.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01433.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02145.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18961.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0040 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0001c0002t0015 a0001c0003t0001 a0001c0004t0008 a0001c0006t0029	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 others(65): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0002g0063 a0001c0001t0002g0077 a0001c0001t0002g0106 a0001c0001t0003g0018 a0001c0001t0003g0042 a0001c0001t0003g0085 a0001c0001t0003g0101 a0001c0001t0003g0129 a0001c0001t0004g0032 a0001c0001t0004g0062 a0001c0001t0005g0056 a0001c0001t0006g0033 a0001c0001t0006g0116 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0009g0113 a0001c0001t0009g0115 a0001c0001t0010g0075 a0001c0001t0011g0118 a0001c0001t0013g0006 a0001c0001t0014g0029 a0001c0001t0014g0057 a0001c0001t0016g0126 a0001c0001t0017g0103 a0001c0001t0018g0014 a0001c0001t0019g0058 a0001c0001t0019g0102 a0001c0001t0021g0079 a0001c0001t0021g0110 a0001c0001t0023g0030 a0001c0001t0024g0090 a0001c0001t0024g0099 a0001c0001t0027g0045 a0001c0001t0028g0086 a0001c0001t0031g0027 a0001c0001t0032g0039 a0001c0001t0040g0092 a0001c0001t0041g0094 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0104 a0001c0002t0002g0015 a0001c0002t0002g0036 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0003g0019 a0001c0002t0007g0095 a0001c0002t0012g0125 a0001c0002t0015g0081 a0001c0002t0015g0130 a0001c0003t0001g0109 a0001c0004t0008g0047 a0001c0006t0029g0111	68	130	0.5231	-50	c.84+ others(67): Show c.84+59202_84+59251delCGAGGACTCGGTAAATATTTGTTGAATG AATGAAAAATAATTGCTGCCTG	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17			chr14	TogoVar
RHOC_chr1_112696131_112712127	112706464	CCACACAC others(43): Show CCACACACACACACACACACACACACACACACACACACACACACACACAC A	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	428	0.0023	-50	c.-77 others(65): Show c.-77+564_-77+613delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546469	TATATGTG others(43): Show TATATGTGTATATATATATATATATATATATATATATATATATGTATATA C	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02965.hp2 HG03453.hp2 others(14): Show HG02027.hp2 HG02965.hp2 HG03453.hp2 NA18612.hp2 NA18941.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18967.hp2 NA18982.hp2 NA18990.hp2 NA19010.hp1 NA19066.hp2 NA19077.hp2 NA19082.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0165 a0001c0001t0002g0027 a0001c0001t0002g0324 others(14): Show a0001c0001t0001g0165 a0001c0001t0002g0027 a0001c0001t0002g0324 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0014g0093	17	332	0.0512	-50	c.201 others(67): Show c.201+2662_201+2711delGTGTATATATATATATATATATATATAT ATATATATATGTATATACATAT	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHOT2_chr16_663132_679171	665214	ACCTCAGT others(43): Show ACCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(297): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0001c0014 a0001c0018 others(36): Show a0001c0001 a0001c0014 a0001c0018 a0001c0027 a0001c0029 a0001c0046 a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0015 a0002c0036 a0002c0037 a0002c0038 a0002c0039 a0002c0042 a0003c0021 a0004c0005 a0004c0012 a0004c0019 a0004c0043 a0005c0010 a0005c0013 a0006c0011 a0007c0020 a0007c0024 a0008c0017 a0009c0034 a0010c0032 a0011c0031 a0012c0030 a0013c0028 a0016c0045 a0018c0041 a0019c0035 a0020c0023 a0021c0040 a0022c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0014t0001 a0001c0014t0002 a0001c0018t0002 a0001c0027t0002 a0001c0029t0002 a0001c0046t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0004t0001 a0002c0006t0001 a0002c0007t0001 a0002c0009t0004 a0002c0015t0001 a0002c0036t0001 a0002c0037t0001 a0002c0038t0001 a0002c0039t0001 a0002c0042t0011 a0003c0021t0009 a0004c0005t0001 a0004c0012t0001 a0004c0019t0001 a0004c0043t0001 a0005c0010t0001 a0005c0013t0001 a0006c0011t0001 a0007c0020t0001 a0007c0024t0001 a0008c0017t0007 a0009c0034t0001 a0010c0032t0002 a0011c0031t0015 a0012c0030t0002 a0013c0028t0001 a0016c0045t0001 a0018c0041t0001 a0019c0035t0002 a0020c0023t0001 a0021c0040t0001 a0022c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0072 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0003g0012 a0001c0001t0005g0001 a0001c0001t0005g0069 a0001c0001t0008g0012 a0001c0014t0001g0001 a0001c0014t0001g0022 a0001c0014t0001g0064 a0001c0014t0002g0061 a0001c0018t0002g0001 a0001c0027t0002g0067 a0001c0029t0002g0001 a0001c0046t0001g0022 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0077 a0002c0002t0002g0020 a0002c0002t0010g0006 a0002c0002t0012g0002 a0002c0002t0013g0002 a0002c0004t0001g0004 a0002c0004t0001g0021 a0002c0004t0001g0030 a0002c0004t0001g0036 a0002c0004t0001g0043 a0002c0004t0001g0049 a0002c0006t0001g0004 a0002c0006t0001g0051 a0002c0006t0001g0055 a0002c0007t0001g0011 a0002c0007t0001g0014 a0002c0007t0001g0016 a0002c0007t0001g0052 a0002c0007t0001g0066 a0002c0009t0004g0010 a0002c0009t0004g0018 a0002c0015t0001g0002 a0002c0015t0001g0024 a0002c0036t0001g0041 a0002c0037t0001g0002 a0002c0038t0001g0006 a0002c0039t0001g0006 a0002c0042t0011g0039 a0003c0021t0009g0057 a0003c0021t0009g0058 a0004c0005t0001g0008 a0004c0005t0001g0009 a0004c0012t0001g0001 a0004c0012t0001g0008 a0004c0012t0001g0015 a0004c0019t0001g0063 a0004c0043t0001g0024 a0005c0010t0001g0005 a0005c0013t0001g0005 a0006c0011t0001g0002 a0007c0020t0001g0002 a0007c0024t0001g0002 a0008c0017t0007g0002 a0009c0034t0001g0038 a0010c0032t0002g0001 a0011c0031t0015g0062 a0012c0030t0002g0001 a0013c0028t0001g0001 a0016c0045t0001g0060 a0018c0041t0001g0046 a0019c0035t0002g0020 a0020c0023t0001g0016 a0021c0040t0001g0040 a0022c0025t0001g0002	300	380	0.7895	-50	c.-29 others(61): Show c.-2985_-2936delCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCA CACTCCTGTCTTTCAG	RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding		2917		chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130574969	GCCACCCC others(43): Show GCCACCCCCACCCCCAGACGCCCTGTGCCAAGTCCTCCAGAATCACACCC C	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01256.hp2 others(14): Show HG00544.hp2 HG00642.hp1 HG01256.hp2 HG01496.hp2 HG02083.hp2 HG02165.hp2 HG02735.hp1 HG02735.hp2 HG03834.hp2 NA18950.hp1 NA18964.hp2 NA18986.hp1 NA19010.hp1 NA19011.hp1 NA19064.hp2 NA19079.hp2 NA19081.hp1	a0001 a0009 a0014 a0001 a0009 a0014	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0011 a0009c0052 a0014c0045	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0009c0052t0001 a0014c0045t0001	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0092 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0002g0008 a0001c0001t0002g0126 a0001c0002t0001g0021 a0001c0002t0001g0046 a0001c0002t0001g0065 a0001c0002t0002g0034 a0001c0003t0001g0077 a0001c0004t0001g0041 a0001c0004t0001g0112 a0001c0006t0001g0081 a0001c0008t0001g0134 a0001c0011t0001g0125 a0009c0052t0001g0123 a0014c0045t0001g0035	17	180	0.0944	-50	c.-21 others(71): Show c.-217+53303_-217+53352delGGGGTGTGATTCTGGAGGACTTGG CACAGGGCGTCTGGGGGTGGGGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIPK4_chr21_41734373_41772052	41738118	TGACAGCC others(43): Show TGACAGCCCAGTAACAATGAGCACCTCCAGCACCCACATCTTGGCGTCTA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	448	0.0022	-50	c.26 others(61): Show c.2670_*2719delTTAGACGCCAAGATGTGGGTGCTGGAGGTGCTCA TTGTTACTGGGCTGTC	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		1254		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20506478	GGGAGGGA others(43): Show GGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCC A	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	396	0.0025	-50	c.-6+ others(63): Show c.-6+465_-6+514delGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCTATCCAGGAGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF135_chr17_30966039_31004911	30979651	AGGCGGGG others(43): Show AGGCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC G	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp2 HG02257.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0019 a0002c0002t0004g0018 a0002c0002t0001g0019 a0002c0002t0004g0018	2	266	0.0075	-50	c.373 others(67): Show c.373-4952_373-4903delTCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGA	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF19A_chr8_100252067_100314953	100303892	GCGTCACT others(43): Show GCGTCACTGCACTCCAGCCTGGGTGACAGAGTGAAACTCTGTCTCCAAAA A	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	350	0.0029	-50	c.-94 others(67): Show c.-94+5925_-94+5974delTTTTTGGAGACAGAGTTTCACTCTGTCA CCCAGGCTGGAGTGCAGTGACG	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding	1/9			chr8	TogoVar
RNF212B_chr14_23232936_23278477	23273450	TAAAGACG others(43): Show TAAAGACGATGCCCTTTTATTGCTACAATTCTATCACTTTTACAAGCTCT A	T T	splice_region_variant splice_region_variant	LOW	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	368	0.0027	-50	c.56 others(59): Show c.560_*609delAAAGACGATGCCCTTTTATTGCTACAATTCTATCAC TTTTACAAGCTCTA	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding	15/15			chr14	TogoVar

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