view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCDC2C_chr2_3698575_3853008 | 3725423 | A | AGGTGGAT others(2984): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0201 | 1 | 224 | 0.0045 | 2991 | c.340 others(3008): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399986 | A | AGGAAGGT others(2984): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0212 | 1 | 61 | 0.0164 | 2991 | c.269 others(3010): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2984): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01346.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0134 a0001c0001t0001g0136 others(2): Show |
8 | 304 | 0.0263 | 2991 | c.600 others(3008): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2984): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 297 | 0.0034 | 2991 | c.600 others(3008): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2984): Show |
intron_variant | MODIFIER | HG01517.hp2 HG01934.hp1 HG01993.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 others(8): Show |
20 | 316 | 0.0633 | 2991 | c.600 others(3008): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2984): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0126 |
2 | 298 | 0.0067 | 2991 | c.600 others(3008): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2984): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0066 | 1 | 282 | 0.0035 | 2991 | c.265 others(3012): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2984): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 a0001c0001t0002g0093 |
2 | 283 | 0.0071 | 2991 | c.265 others(3012): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2984): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0077 | 1 | 282 | 0.0035 | 2991 | c.265 others(3012): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2984): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 282 | 0.0035 | 2991 | c.265 others(3012): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2984): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 38 | 0.0263 | 2991 | c.*19 others(3002): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(2984): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0163 | 1 | 264 | 0.0038 | 2991 | c.-34 others(3002): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043011 | C | CCACCTGG others(2984): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 308 | 0.0032 | 2991 | c.-34 others(3002): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3443 | chr15 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87407647 | T | TTTTACTT others(2985): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0243 | 1 | 367 | 0.0027 | 2992 | c.-44 others(3001): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 324 | chr6 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2985): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0018g0132 |
3 | 299 | 0.0100 | 2992 | c.600 others(3009): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2985): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 297 | 0.0034 | 2992 | c.600 others(3009): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2985): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02040.hp1 HG02148.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0039 others(12): Show |
34 | 330 | 0.1030 | 2992 | c.600 others(3009): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2985): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 298 | 0.0067 | 2992 | c.600 others(3009): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2985): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0064 | 1 | 282 | 0.0035 | 2992 | c.265 others(3013): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2985): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0041 | 1 | 282 | 0.0035 | 2992 | c.265 others(3013): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTCC others(2985): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 | 1 | 98 | 0.0102 | 2992 | c.773 others(3007): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2985): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 38 | 0.0263 | 2992 | c.*19 others(3003): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2985): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 38 | 0.0263 | 2992 | c.*19 others(3003): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043011 | C | CCACCTGG others(2985): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 308 | 0.0032 | 2992 | c.-34 others(3003): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3443 | chr15 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87407647 | T | TTTTACTT others(2986): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0244 | 1 | 367 | 0.0027 | 2993 | c.-44 others(3002): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 324 | chr6 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2986): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01175.hp2 HG04184.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0125 others(3): Show |
8 | 304 | 0.0263 | 2993 | c.600 others(3010): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2986): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 297 | 0.0034 | 2993 | c.600 others(3010): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2986): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 297 | 0.0034 | 2993 | c.600 others(3010): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2986): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00738.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0062 others(13): Show |
16 | 38 | 0.4211 | 2993 | c.284 others(3012): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2986): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 | 1 | 38 | 0.0263 | 2993 | c.*19 others(3004): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2986): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 38 | 0.0263 | 2993 | c.*19 others(3004): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2986): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 38 | 0.0263 | 2993 | c.*19 others(3004): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043502 | C | CCTGGCCA others(2986): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 341 | 0.0029 | 2993 | c.-39 others(3004): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3934 | chr15 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333224 | G | GATGAGGA others(2987): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0293 a0001c0001t0006g0294 |
2 | 366 | 0.0055 | 2994 | c.891 others(3011): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39405879 | T | TAAAAAGT others(2987): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0121 |
2 | 298 | 0.0067 | 2994 | c.600 others(3011): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2987): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 | 1 | 227 | 0.0044 | 2994 | c.-25 others(3011): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(2987): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 297 | 0.0034 | 2994 | c.-91 others(3015): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2987): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0016 | 1 | 32 | 0.0313 | 2994 | c.218 others(3009): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2987): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0296 | 1 | 282 | 0.0035 | 2994 | c.265 others(3015): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SART3_chr12_108517214_108566173 | 108541998 | C | CTTTTTTT others(2987): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18956.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0042 | 2 | 45 | 0.0444 | 2994 | c.906 others(3011): Show |
SART3 | ENSG00000075856.12 | transcript | ENST00000546815.6 | protein_coding | 6/18 | chr12 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2987): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0019 | 1 | 23 | 0.0435 | 2994 | c.284 others(3013): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2987): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 38 | 0.0263 | 2994 | c.*19 others(3005): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2988): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0198 | 1 | 288 | 0.0035 | 2995 | c.96+ others(3010): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949681 | T | TGATCTTT others(2988): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0018 | a0001c0018t0006 | a0001c0018t0006g0179 | 1 | 171 | 0.0058 | 2995 | c.280 others(3016): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949681 | T | TGATCTTT others(2988): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0183 | 1 | 171 | 0.0058 | 2995 | c.280 others(3016): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGGGT others(2988): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0212 | 1 | 4 | 0.2500 | 2995 | c.115 others(3014): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2988): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0257 | 1 | 8 | 0.1250 | 2995 | c.400 others(3014): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2988): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0007 | a0001c0007t0052 | a0001c0007t0052g0001 | 1 | 8 | 0.1250 | 2995 | c.400 others(3014): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(2988): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 297 | 0.0034 | 2995 | c.-91 others(3016): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(2988): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0309 | 1 | 297 | 0.0034 | 2995 | c.-91 others(3016): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar |