Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
RERE_chr1_8347404_8822640	8501400	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(96): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00741.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18964.hp2 NA18967.hp1 NA18973.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0009 a0013	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0019 a0002c0006 a0002c0032 a0003c0008 a0004c0017 a0008c0020 a0009c0031 a0013c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0036 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0001c0002t0018 a0001c0002t0032 a0001c0003t0004 a0001c0003t0008 a0001c0003t0011 a0001c0003t0012 a0001c0003t0015 a0001c0003t0017 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0014 a0001c0004t0027 a0001c0005t0009 a0001c0005t0019 a0001c0005t0026 a0001c0005t0034 a0001c0007t0001 a0001c0007t0004 a0001c0009t0004 a0001c0010t0007 a0001c0010t0013 a0001c0011t0007 a0001c0015t0001 a0001c0016t0020 a0001c0019t0001 a0002c0006t0003 a0002c0032t0008 a0003c0008t0001 a0004c0017t0004 a0008c0020t0001 a0009c0031t0007 a0013c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(96): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0124 a0001c0001t0003g0141 a0001c0001t0006g0170 a0001c0001t0006g0184 a0001c0001t0036g0194 a0001c0002t0002g0157 a0001c0002t0005g0125 a0001c0002t0013g0053 a0001c0002t0018g0002 a0001c0002t0032g0155 a0001c0003t0004g0007 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0068 a0001c0003t0004g0078 a0001c0003t0008g0105 a0001c0003t0011g0108 a0001c0003t0011g0112 a0001c0003t0012g0018 a0001c0003t0012g0022 a0001c0003t0015g0147 a0001c0003t0017g0032 a0001c0004t0001g0003 a0001c0004t0001g0049 a0001c0004t0003g0092 a0001c0004t0010g0107 a0001c0004t0010g0142 a0001c0004t0014g0126 a0001c0004t0027g0106 a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0204 a0001c0005t0019g0030 a0001c0005t0026g0127 a0001c0005t0034g0156 a0001c0007t0001g0008 a0001c0007t0004g0044 a0001c0007t0004g0047 a0001c0009t0004g0016 a0001c0009t0004g0020 a0001c0010t0007g0026 a0001c0010t0007g0034 a0001c0010t0013g0024 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0011t0007g0029 a0001c0015t0001g0009 a0001c0016t0020g0001 a0001c0019t0001g0005 a0002c0006t0003g0139 a0002c0032t0008g0140 a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0071 a0003c0008t0001g0072 a0004c0017t0004g0012 a0008c0020t0001g0062 a0009c0031t0007g0025 a0013c0021t0001g0069	99	204	0.4853	49	c.880 others(66): Show c.880-3872_880-3871insAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501886	G G	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18964.hp2 NA18973.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0030 a0002c0006 a0002c0032 a0003c0008 a0004c0017 a0006c0013 a0007c0025 a0009c0031 a0012c0028 a0013c0021 a0014c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(43): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0036 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0001c0002t0028 a0001c0002t0032 a0001c0002t0033 a0001c0003t0004 a0001c0003t0008 a0001c0003t0011 a0001c0003t0012 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0010 a0001c0004t0014 a0001c0004t0022 a0001c0005t0009 a0001c0005t0019 a0001c0005t0026 a0001c0005t0034 a0001c0007t0001 a0001c0007t0004 a0001c0009t0004 a0001c0010t0007 a0001c0010t0013 a0001c0011t0007 a0001c0014t0002 a0001c0015t0001 a0001c0016t0020 a0001c0019t0001 a0001c0030t0002 a0002c0006t0003 a0002c0032t0008 a0003c0008t0001 a0004c0017t0004 a0006c0013t0021 a0006c0013t0029 a0007c0025t0003 a0009c0031t0007 a0012c0028t0002 a0013c0021t0001 a0014c0029t0002	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0033 others(133): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0141 a0001c0001t0006g0170 a0001c0001t0036g0194 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0005g0110 a0001c0002t0005g0116 a0001c0002t0005g0125 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0136 a0001c0002t0013g0053 a0001c0002t0028g0133 a0001c0002t0032g0155 a0001c0002t0033g0186 a0001c0003t0004g0007 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0068 a0001c0003t0004g0078 a0001c0003t0008g0105 a0001c0003t0011g0108 a0001c0003t0011g0112 a0001c0003t0012g0018 a0001c0003t0012g0022 a0001c0004t0001g0003 a0001c0004t0001g0049 a0001c0004t0003g0092 a0001c0004t0003g0109 a0001c0004t0005g0123 a0001c0004t0010g0120 a0001c0004t0014g0126 a0001c0004t0022g0121 a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0204 a0001c0005t0019g0030 a0001c0005t0026g0127 a0001c0005t0034g0156 a0001c0007t0001g0008 a0001c0007t0004g0044 a0001c0007t0004g0047 a0001c0009t0004g0016 a0001c0009t0004g0020 a0001c0010t0007g0026 a0001c0010t0007g0034 a0001c0010t0013g0024 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0011t0007g0029 a0001c0014t0002g0191 a0001c0015t0001g0009 a0001c0016t0020g0001 a0001c0019t0001g0005 a0001c0030t0002g0182 a0002c0006t0003g0139 a0002c0032t0008g0140 a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0071 a0003c0008t0001g0072 a0004c0017t0004g0012 a0006c0013t0021g0023 a0006c0013t0029g0111 a0007c0025t0003g0135 a0009c0031t0007g0025 a0012c0028t0002g0175 a0013c0021t0001g0069 a0014c0029t0002g0165	136	204	0.6667	49	c.880 others(66): Show c.880-4406_880-4358dupACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	276	0.0036	49	c.332 others(66): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0031 a0001c0001t0033g0031	1	388	0.0026	49	c.207 others(64): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296157	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0291 a0001c0002t0004g0291	1	388	0.0026	49	c.207 others(64): Show c.207+521_207+522insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CTTTCCTT others(42): Show CTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA21309.hp1 HG01884.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0072 a0001c0001t0026 a0001c0001t0072	a0001c0001t0026g0196 a0001c0001t0072g0193 a0001c0001t0026g0196 a0001c0001t0072g0193	2	196	0.0102	49	c.118 others(68): Show c.118-19930_118-19929insAAAGAAAGAAAGAAAGGAAAGAAAGA AAGAAAGAAAGAAAGAAAGGAAA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(42): Show GCGGGGCGGGGCGGGGCGGGGCCGGGCCGGGGCCGGGGCCGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0188 a0001c0001t0005g0188	1	418	0.0024	49	c.125 others(64): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCCGGGCCGGGG CCGGGGCCGGGCCGGGGCC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7_chr1_240770514_241362205	240777934	A A	ACTCCTAA others(42): Show ACTCCTAATACCATCACCTTCATGATCTAATGACCTTCCAAAGGCCCTGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	112	0.0089	49	c.7- others(64): Show c.7-1722_*7-1721insCCAGGGCCTTTGGAAGGTCATTAGATCATG AAGGTGATGGTATTAGGAG	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240778081	A A	ACTCCTAA others(42): Show ACTCCTAATACCATCACCTTCATGATCTAATGACCTTCCAAAGGCCCTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02622.hp2 HG01884.hp2 HG02055.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0059 a0001c0001t0005g0094 a0001c0001t0005g0023 a0001c0001t0005g0059 a0001c0001t0005g0094	3	112	0.0268	49	c.7- others(64): Show c.7-1917_*7-1869dupCCAGGGCCTTTGGAAGGTCATTAGATCATG AAGGTGATGGTATTAGGAG	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240778130	G G	GCTCCTAA others(42): Show GCTCCTAATACCATCACCTTCATGATCTAATGACCTTCCAAAGGCCCTGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03209.hp1 NA18906.hp1 HG02897.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0008g0110 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0008g0110	3	112	0.0268	49	c.7- others(64): Show c.7-1918_*7-1917insTCAGGGCCTTTGGAAGGTCATTAGATCATG AAGGTGATGGTATTAGGAG	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RHCG_chr15_89466407_89501583	89479101	A A	AAAAAACA others(42): Show AAAAAACAAAACAAAACAAAACAAAACAAAAAACAAGATAAAGAATTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02257.hp2 others(16): Show HG01496.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 others(11): Show a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053	19	360	0.0528	49	c.837 others(64): Show c.837+220_837+221insGAGAATTCTTTATCTTGTTTTTTGTTTTGT TTTGTTTTGTTTTGTTTTT	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	5/10			chr15	TogoVar
RHCG_chr15_89466407_89501583	89479113	A A	AAAACAAA others(42): Show AAAACAAAACAAAACAAAAAACAAGATAAAGAATTCTCAAAAACAAAACC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 NA19240.hp1 others(1): Show HG02723.hp2 HG03130.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0199 others(1): Show a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0204	4	360	0.0111	49	c.837 others(64): Show c.837+208_837+209insGGTTTTGTTTTTGAGAATTCTTTATCTTGT TTTTTGTTTTGTTTTGTTT	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	5/10			chr15	TogoVar
RIOK2_chr5_97155867_97188247	97180016	A A	ATATATAT others(42): Show ATATATATATAAAATATATATATATAATATATATATATAATATATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG03486.hp1 HG01891.hp2 HG03225.hp1 HG03486.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0055 a0008c0010t0010g0254 a0008c0010t0010g0055 a0008c0010t0010g0254	3	410	0.0073	49	c.67- others(62): Show c.67-824_67-823insATTATATATATTATATATATATATTATATATA TATATTTTATATATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RLF_chr1_40156387_40245921	40200919	C C	CACACACA others(42): Show CACACACACACACACAGTGGTTTATCCTTAGTATAAACCATTGCTACTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0329 a0003c0003t0001g0329	1	338	0.0030	49	c.608 others(66): Show c.608-1478_608-1477insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACACACACACACACA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNASE10_chr14_20500537_20518884	20506184	G G	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	396	0.0025	49	c.-6+ others(62): Show c.-6+194_-6+195insACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506277	T T	TCTGCCCG others(42): Show TCTGCCCGGCCAGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA20752.hp1 NA18980.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0177 a0001c0001t0011g0077 a0001c0001t0009g0177 a0001c0001t0011g0077	2	396	0.0051	49	c.-6+ others(62): Show c.-6+273_-6+274insTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506606	G G	GGGAGGGA others(42): Show GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCAGTCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp1 HG00408.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0031 a0001c0001t0018 a0001c0001t0031	a0001c0001t0018g0059 a0001c0001t0031g0059 a0001c0001t0018g0059 a0001c0001t0031g0059	2	396	0.0051	49	c.-6+ others(62): Show c.-6+604_-6+652dupATCAGCCCCCCGCCTGGCCAGCCGCCCAGTCC AGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506623	A A	ATCAGCCC others(42): Show ATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0079 a0001c0001t0012g0079	1	396	0.0025	49	c.-6+ others(62): Show c.-6+617_-6+618insCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506665	T T	TGGGGGGT others(42): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	396	0.0025	49	c.-6+ others(62): Show c.-6+702_-6+750dupTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506784	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0060 a0001c0001t0090g0060	1	396	0.0025	49	c.-6+ others(62): Show c.-6+789_-6+837dupGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	374	0.0027	49	c.-48 others(66): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	350	0.0029	49	c.-2- others(64): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNPC3_chr1_103520699_103560239	103529524	G G	GTAAGTAG others(42): Show GTAAGTAGCCGAGTCAGGTAGGAGGAGTTAACATTAAAAATGAAAAACCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp2 HG02040.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	2	370	0.0054	49	c.240 others(66): Show c.240+1786_240+1834dupGTAGCCGAGTCAGGTAGGAGGAGTTAAC ATTAAAAATGAAAAACCATAA	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROBO2_chr3_77035099_77654964	77123938	T T	TTGTATCT others(42): Show TTGTATCTATATAGATAGATATGTAGATAATCTATCTATATAGATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01361.hp2 others(10): Show HG00140.hp2 HG00597.hp2 HG01361.hp2 HG01516.hp2 HG01978.hp2 HG02293.hp2 NA18968.hp1 NA18986.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0045	a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0130 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0130 a0001c0001t0003g0120 a0001c0001t0003g0140 a0001c0001t0004g0070 a0001c0001t0004g0123 a0001c0001t0005g0071 a0001c0001t0006g0021 a0001c0001t0006g0031 a0001c0001t0008g0028 a0001c0001t0010g0131 a0001c0001t0045g0072	13	160	0.0813	49	c.388 others(68): Show c.388+25615_388+25663dupGATATGTAGATAATCTATCTATATAG ATATATATGTATCTATATAGATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77164421	C C	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG03195.hp1 HG02451.hp1 HG02922.hp1 HG03195.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0014 a0001c0001t0025 a0006c0008t0002 a0001c0001t0014 a0001c0001t0025 a0006c0008t0002	a0001c0001t0014g0082 a0001c0001t0025g0078 a0006c0008t0002g0083 a0001c0001t0014g0082 a0001c0001t0025g0078 a0006c0008t0002g0083	3	160	0.0188	49	c.388 others(68): Show c.388+66116_388+66117insCGGCCAGCCGTGCTGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77164765	G G	GGTCAGCC others(42): Show GGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp2 HG01106.hp1 others(84): Show HG00597.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0010 a0010c0012 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0002t0002 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0026 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0010t0002 a0010c0012t0005 a0011c0009t0030	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(84): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0002g0046 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0143 a0001c0001t0003g0014 a0001c0001t0003g0048 a0001c0001t0003g0101 a0001c0001t0003g0132 a0001c0001t0003g0139 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0109 a0001c0001t0004g0121 a0001c0001t0004g0133 a0001c0001t0004g0148 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0051 a0001c0001t0005g0071 a0001c0001t0005g0095 a0001c0001t0005g0145 a0001c0001t0005g0155 a0001c0001t0005g0159 a0001c0001t0006g0015 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0152 a0001c0001t0008g0032 a0001c0001t0008g0125 a0001c0001t0008g0135 a0001c0001t0009g0089 a0001c0001t0009g0119 a0001c0001t0010g0037 a0001c0001t0010g0144 a0001c0001t0011g0047 a0001c0001t0011g0053 a0001c0001t0011g0154 a0001c0001t0012g0045 a0001c0001t0013g0098 a0001c0001t0014g0003 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0016g0112 a0001c0001t0017g0085 a0001c0001t0020g0009 a0001c0001t0022g0153 a0001c0001t0023g0033 a0001c0001t0024g0001 a0001c0001t0031g0156 a0001c0001t0034g0122 a0001c0001t0035g0041 a0001c0001t0037g0011 a0001c0001t0038g0052 a0001c0001t0039g0063 a0001c0001t0040g0057 a0001c0001t0042g0149 a0001c0001t0046g0004 a0001c0002t0002g0087 a0001c0002t0002g0104 a0001c0002t0007g0113 a0001c0002t0012g0114 a0001c0002t0018g0086 a0001c0002t0026g0081 a0002c0003t0001g0136 a0002c0003t0002g0108 a0002c0003t0007g0116 a0002c0010t0002g0080 a0010c0012t0005g0106 a0011c0009t0030g0100	87	160	0.5438	49	c.388 others(68): Show c.388+66430_388+66431insCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGCGTCAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77164765	G G	GGTCAGCC others(42): Show GGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0029 a0004c0007t0029	a0004c0007t0029g0042 a0004c0007t0029g0042	1	160	0.0063	49	c.388 others(68): Show c.388+66430_388+66431insCCCCCTGCCCGGCCAGCTGCCCCGTC CGGGAGGGAGGTGGGGGCGTCAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77277212	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTGTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0086 a0001c0002t0018g0086	1	160	0.0063	49	c.388 others(70): Show c.388+178874_388+178875insTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTTTCTTGTCTTTCTTTCTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	320	0.0031	49	c.142 others(66): Show c.142-8255_142-8254insTCTCTCTCTCTCTCTCCCCTCTCTCTCT CTCTCCTCTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPA2_chr1_27886524_27919575	27916993	T T	TCCTTCCT others(42): Show TCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	364	0.0028	49	c.-25 others(60): Show c.-2551_-2550insGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGGG AGGGAGGAAGGAAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2419		chr1	TogoVar
RPH3AL_chr17_207389_357807	319977	A A	AGGGGGAG others(42): Show AGGGGGAGGGAGACTGAGGGGATGGAGGGGGAGGGAGACTGAGGGGAGCG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	49	c.222 others(64): Show c.222-429_222-428insCGCTCCCCTCAGTCTCCCTCCCCCTCCATC CCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320002	A A	AGGGGGAG others(42): Show AGGGGGAGGGAGACTGAGGGGATGGAGGGGGAGGGAGACTGAGGGGAGCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	133	0.0075	49	c.222 others(64): Show c.222-454_222-453insCGCTCCCCTCAGTCTCCCTCCCCCTCCATC CCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	276	0.0036	49	c.-17 others(60): Show c.-1706_-1705insTATATATATATATATATATATATATATATATATA TATATATTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL11_chr1_23686806_23701835	23689071	G G	GCAGCCGC others(42): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02145.hp1 HG02622.hp2 others(4): Show HG01069.hp2 HG02145.hp1 HG02622.hp2 HG02809.hp1 HG02922.hp1 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012	7	388	0.0180	49	c.-27 others(60): Show c.-2753_-2752insCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCAGC	RPL11	ENSG00000142676.14	transcript	ENST00000643754.2	protein_coding		2734		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80662797	T T	TGGCCTTT others(42): Show TGGCCTTTCATAGTCTTACAAAGGTGGGTTTCAGTCCCTGAACCAGGAGG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	196	0.0051	49	c.348 others(68): Show c.348+19013_348+19014insGTTTCAGTCCCTGAACCAGGAGGGGC CTTTCATAGTCTTACAAAGGTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665334	T T	TTTCCTTT others(42): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0016 a0001c0018t0016	a0001c0018t0016g0120 a0001c0018t0016g0120	1	196	0.0051	49	c.348 others(68): Show c.348+21527_348+21575dupCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665502	C C	CCTTTCCT others(42): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0076 a0001c0006t0076	a0001c0006t0076g0192 a0001c0006t0076g0192	1	196	0.0051	49	c.348 others(68): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(42): Show CCTTTCCTGTCCTTTCCTTTCCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0080 a0001c0059t0080	a0001c0059t0080g0006 a0001c0059t0080g0006	1	196	0.0051	49	c.348 others(68): Show c.348+21714_348+21715insTTTCCTGTCCTTTCCTTTCCTGTCCT TTCCTTTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80876347	T T	TCCACCGA others(42): Show TCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02922.hp2 HG00423.hp2 HG02922.hp2	a0001 a0001	a0001c0017 a0001c0053 a0001c0017 a0001c0053	a0001c0017t0005 a0001c0053t0007 a0001c0017t0005 a0001c0053t0007	a0001c0017t0005g0031 a0001c0053t0007g0122 a0001c0017t0005g0031 a0001c0053t0007g0122	2	196	0.0102	49	c.151 others(68): Show c.1510-3910_1510-3862dupCGTGCCACGCAGGGTGTGTGTGTCGC CTGCCGTGTCTTCCCACCGAGCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GTGTGTGT others(42): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0053 a0004c0005t0053	a0004c0005t0053g0199 a0004c0005t0053g0199	1	388	0.0026	49	c.30 others(60): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC ACACACACACACACA	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(42): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02451.hp1 others(2): Show HG01433.hp1 HG02055.hp2 HG02451.hp1 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0011g0010 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0011g0010	5	362	0.0138	49	c.63 others(60): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604129	G G	GGGCTGAC others(42): Show GGGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18971.hp1 NA18612.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	362	0.0055	49	c.63 others(60): Show c.6348_*6349insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3833		chr17	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GCTGACCC others(42): Show GCTGACCCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03927.hp1 HG02056.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0252 a0001c0001t0001g0101 a0001c0001t0002g0252	2	358	0.0056	49	c.-15 others(68): Show c.-155-3832_-155-3831insGCCTCCCTCGCGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GGCTGACC others(42): Show GGCTGACCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	358	0.0028	49	c.-15 others(68): Show c.-155-3843_-155-3842insGCTGACCCCCCGCCTCCCTCGCGGAA GGGGCGGCTGGCCAGGCGGGGGA	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14			chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200665	A A	ACCCCCCG others(42): Show ACCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGACTGAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0352 a0001c0001t0004g0352	1	358	0.0028	49	c.-15 others(68): Show c.-155-3833_-155-3832insGCCTCCCTCGCGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RTEL1_chr20_63653312_63701245	63677697	G G	GCCTGTTG others(42): Show GCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0023 a0001c0016t0002g0023	1	60	0.0167	49	c.920 others(64): Show c.920-201_920-153dupCTGTTGGTGGATTTGGCCTGCACGGATTCT GTGTGGCCTCTTCCTTCCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(42): Show GCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02027.hp2 NA18979.hp2 others(2): Show HG00408.hp1 HG02027.hp2 NA18979.hp2 NA19055.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	5	365	0.0137	49	c.48 others(60): Show c.4833_*4834insCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878112	C C	CCCACCCC others(42): Show CCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	49	c.48 others(60): Show c.4838_*4839insCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCTGGCCGCCCCCCG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4290		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197733122	T T	TTTTTTTT others(42): Show TTTTTTTTTTTTTTTTTTTGTTTTTTATTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0047 a0001c0001t0034g0047	1	186	0.0054	49	c.65+ others(64): Show c.65+3532_65+3533insGAAAAAAAAAAAAAAAAAAAAAATAAAAAA CAAAAAAAAAAAAAAAAAA	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19			chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626174	T T	TTGTCATA others(42): Show TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	202	0.0050	49	c.-26 others(60): Show c.-2650_-2649insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2223		chr7	TogoVar

Search by Variant

Search

Search Results