| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| STK10_chr5_172037079_172193224 | 172159896 | GGGAGGCC others(23): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02970.hp1 NA18522.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0003t0010a0001c0004t0013 | a0001c0003t0002g0091a0001c0003t0010g0111a0001c0004t0013g0075 | 3 | 232 | 0.0129 | -30 | c.157 others(47): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
| STK32B_chr4_5046480_5505989 | 5159691 | ATATGAAT others(23): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020 | a0001c0001t0005g0077a0001c0001t0020g0123 | 2 | 170 | 0.0118 | -30 | c.109 others(47): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| STK32B_chr4_5046480_5505989 | 5159753 | ATATGAAT others(23): Show |
A | intron_variant | MODIFIER | HG02615.hp1 NA19009.hp1 |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0001a0002c0002t0001 | a0001c0009t0001g0154a0002c0002t0001g0083 | 2 | 170 | 0.0118 | -30 | c.109 others(47): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| STK32B_chr4_5046480_5505989 | 5316136 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01256.hp1 HG01257.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0031a0001c0001t0001g0131others(18): Show | 21 | 170 | 0.1235 | -30 | c.261 others(49): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| STK32B_chr4_5046480_5505989 | 5316823 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | NA19087.hp1 NA19087.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0043a0002c0002t0003g0101 | 2 | 170 | 0.0118 | -30 | c.261 others(49): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| STK32B_chr4_5046480_5505989 | 5317014 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 170 | 0.0059 | -30 | c.261 others(49): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| STK32C_chr10_132202492_132312950 | 132205955 | GCAGCCAA others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(31): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0035a0001c0001t0001g0070a0001c0001t0001g0109others(31): Show | 34 | 368 | 0.0924 | -30 | c.*20 others(41): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1536 | chr10 | TogoVar | ||||||
| STK35_chr20_2096827_2153555 | 2150071 | CATTTCCT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02717.hp1 others(3): Show |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0007a0003c0007t0018 | a0001c0003t0007g0029a0001c0003t0007g0110a0001c0003t0007g0111others(2): Show | 6 | 272 | 0.0221 | -30 | c.*63 others(41): Show |
STK35 | ENSG00000125834.13 | transcript | ENST00000381482.8 | protein_coding | 1517 | chr20 | TogoVar | ||||||
| STK38L_chr12_27239286_27330959 | 27293597 | GGGCCAGA others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(116): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0031others(114): Show | 119 | 374 | 0.3182 | -30 | c.-11 others(47): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 1/13 | chr12 | TogoVar | ||||||
| STK38_chr6_36488892_36552479 | 36549357 | TCTTCTTC others(23): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0158a0001c0001t0001g0172a0001c0001t0001g0314others(10): Show | 13 | 398 | 0.0327 | -30 | c.-22 others(41): Show |
STK38 | ENSG00000112079.9 | transcript | ENST00000229812.8 | protein_coding | 1879 | chr6 | TogoVar | ||||||
| STK3_chr8_98449633_98830688 | 98795796 | AAATACAA others(23): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0062a0001c0001t0001g0066a0001c0001t0001g0069others(8): Show | 11 | 170 | 0.0647 | -30 | c.27- others(47): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| STOML3_chr13_38960925_38995831 | 38988915 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 396 | 0.0025 | -30 | c.52+ others(45): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
| STON1_chr2_48525154_48603513 | 48564459 | TTCTTCTT others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 376 | 0.0027 | -30 | c.-47 others(49): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| STON1_chr2_48525154_48603513 | 48564465 | TTCTTCTT others(23): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0310 | 1 | 376 | 0.0027 | -30 | c.-47 others(49): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| STON1_chr2_48525154_48603513 | 48564474 | TTCTTCTT others(23): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0306 | 1 | 376 | 0.0027 | -30 | c.-47 others(49): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| STPG4_chr2_47081991_47160308 | 47084590 | AGAGGCCT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01243.hp1 others(4): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0013 | a0001c0001t0001a0003c0003t0001a0009c0013t0001 | a0001c0001t0001g0084a0001c0001t0001g0244a0001c0001t0001g0245others(4): Show | 7 | 352 | 0.0199 | -30 | c.*23 others(41): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 2400 | chr2 | TogoVar | ||||||
| STRIP2_chr7_129429432_129493399 | 129493182 | ATGTGTGT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(110): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(12): Show | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0010others(98): Show | 113 | 346 | 0.3266 | -30 | c.*73 others(41): Show |
STRIP2 | ENSG00000128578.10 | transcript | ENST00000249344.7 | protein_coding | 4784 | chr7 | TogoVar | ||||||
| STRN_chr2_36832698_36971536 | 36845885 | ACACACAC others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00642.hp1 others(48): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0011a0001c0001t0012a0001c0001t0014others(35): Show | a0001c0001t0011g0096a0001c0001t0011g0097a0001c0001t0011g0098others(48): Show | 51 | 302 | 0.1689 | -30 | c.*35 others(41): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 18/18 | 3541 | chr2 | TogoVar | |||||
| STS_chrX_7142712_7359641 | 7288639 | CGTGTGTG others(23): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG02109.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0005a0001c0001t0023a0001c0001t0035others(4): Show | a0001c0001t0005g0218a0001c0001t0005g0220a0001c0001t0005g0221others(9): Show | 12 | 231 | 0.0520 | -30 | c.943 others(49): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| STX1B_chr16_30984256_31015638 | 31013389 | CTTTTCTT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 282 | 0.0036 | -30 | c.-30 others(41): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2752 | chr16 | TogoVar | ||||||
| STX6_chr1_180967725_181027870 | 181023086 | CCTCTCTC others(23): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 NA18612.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0231a0001c0002t0006g0224 | 2 | 350 | 0.0057 | -30 | c.-44 others(39): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 217 | chr1 | TogoVar | ||||||
| STX7_chr6_132440867_132518116 | 132490965 | GCAGCACA others(23): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0050a0001c0001t0055 | a0001c0001t0015g0039a0001c0001t0050g0031a0001c0001t0055g0295 | 3 | 380 | 0.0079 | -30 | c.85+ others(47): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
| STX7_chr6_132440867_132518116 | 132509452 | AATAACAT others(23): Show |
A | intron_variant | MODIFIER | HG01943.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0041 | a0001c0001t0005g0032a0001c0001t0041g0286 | 2 | 380 | 0.0053 | -30 | c.-59 others(47): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
| STX7_chr6_132440867_132518116 | 132517035 | CATATATA others(23): Show |
C | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0201 | 1 | 380 | 0.0026 | -30 | c.-41 others(41): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 3920 | chr6 | TogoVar | ||||||
| STXBP1_chr9_127607277_127697699 | 127624053 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01928.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084 | 3 | 300 | 0.0100 | -30 | c.37+ others(47): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| STXBP5_chr6_147199417_147395473 | 147372406 | CCTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003a0002c0002t0002g0030a0002c0002t0002g0031others(6): Show | 9 | 350 | 0.0257 | -30 | c.308 others(49): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | ||||||
| STXBP6_chr14_24804454_25055147 | 24918452 | CCACACAC others(23): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02135.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0026a0001c0001t0028others(5): Show | a0001c0001t0010g0043a0001c0001t0026g0030a0001c0001t0026g0149others(6): Show | 9 | 242 | 0.0372 | -30 | c.154 others(49): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| STYK1_chr12_10613923_10679052 | 10630032 | GGAGAGAG others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(176): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0015others(169): Show | 179 | 368 | 0.4864 | -30 | c.452 others(45): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
| STYXL1_chr7_75991342_76053000 | 76046274 | CTGTGTGT others(23): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02809.hp1 NA18951.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0099a0001c0002t0002g0100a0001c0002t0002g0101others(1): Show | 4 | 356 | 0.0112 | -30 | c.-5+ others(45): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| STYXL1_chr7_75991342_76053000 | 76046311 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | NA18973.hp1 NA19088.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063a0001c0002t0002g0064 | 2 | 356 | 0.0056 | -30 | c.-5+ others(45): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| STYXL1_chr7_75991342_76053000 | 76046315 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 356 | 0.0028 | -30 | c.-5+ others(45): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| STYXL1_chr7_75991342_76053000 | 76046317 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016a0001c0001t0003g0017 | 2 | 356 | 0.0056 | -30 | c.-5+ others(45): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| STYXL1_chr7_75991342_76053000 | 76046319 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01192.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0183others(7): Show | 10 | 356 | 0.0281 | -30 | c.-5+ others(45): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| STYXL1_chr7_75991342_76053000 | 76046321 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0354 | 1 | 356 | 0.0028 | -30 | c.-5+ others(45): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| STYXL2_chr1_167089075_167134165 | 167111485 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0140 | 1 | 362 | 0.0028 | -30 | c.111 others(47): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| STYXL2_chr1_167089075_167134165 | 167111487 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02922.hp2 others(1): Show |
a0001a0002a0003 | a0001c0011a0002c0017a0003c0016 | a0001c0011t0001a0002c0017t0003a0003c0016t0002 | a0001c0011t0001g0030a0002c0017t0003g0244a0003c0016t0002g0246 | 4 | 362 | 0.0111 | -30 | c.111 others(47): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| STYXL2_chr1_167089075_167134165 | 167120829 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02145.hp2 HG03490.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0003a0003c0003t0002 | a0001c0001t0001g0272a0001c0001t0001g0275a0002c0002t0003g0038others(2): Show | 7 | 362 | 0.0193 | -30 | c.655 others(47): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SULF1_chr8_69487847_69665912 | 69617373 | CTATATAT others(23): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG03486.hp2 NA18944.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0002a0002c0011t0003 | a0001c0001t0001g0042a0001c0001t0002g0201a0001c0001t0002g0258others(1): Show | 4 | 296 | 0.0135 | -30 | c.137 others(49): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SULF2_chr20_47652406_47790481 | 47745390 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0325 | 1 | 364 | 0.0028 | -30 | c.176 others(47): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
| SULF2_chr20_47652406_47790481 | 47745392 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0352a0001c0001t0003g0362a0001c0001t0004g0060others(3): Show | 6 | 364 | 0.0165 | -30 | c.176 others(47): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
| SULF2_chr20_47652406_47790481 | 47745394 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0008 | a0008c0013 | a0008c0013t0029 | a0008c0013t0029g0299 | 1 | 364 | 0.0028 | -30 | c.176 others(47): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
| SULT1B1_chr4_69716167_69765620 | 69745016 | ACTTCTGT others(23): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0215 | 1 | 408 | 0.0025 | -30 | c.375 others(47): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 4/7 | chr4 | TogoVar | ||||||
| SUN1_chr7_827476_879934 | 876278 | CCTGGGCC others(23): Show |
C | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 418 | 0.0024 | -30 | c.*29 others(41): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1345 | chr7 | TogoVar | ||||||
| SUN1_chr7_827476_879934 | 876314 | CCACGTGT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03579.hp2 others(1): Show |
a0003a0009 | a0003c0003a0009c0013 | a0003c0003t0007a0009c0013t0001 | a0003c0003t0007g0346a0003c0003t0007g0347a0003c0003t0007g0348others(1): Show | 4 | 418 | 0.0096 | -30 | c.*29 others(41): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1381 | chr7 | TogoVar | ||||||
| SUN1_chr7_827476_879934 | 876361 | ACCCGCCT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02630.hp2 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0019a0006c0009t0001 | a0001c0001t0019g0114a0006c0009t0001g0106 | 2 | 418 | 0.0048 | -30 | c.*30 others(41): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1428 | chr7 | TogoVar | ||||||
| SUN1_chr7_827476_879934 | 876391 | GCCCGCCC others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02622.hp2 others(2): Show |
a0003a0006 | a0003c0003a0006c0009 | a0003c0003t0001a0006c0009t0001 | a0003c0003t0001g0316a0006c0009t0001g0031a0006c0009t0001g0032others(2): Show | 5 | 418 | 0.0120 | -30 | c.*30 others(41): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1458 | chr7 | TogoVar | ||||||
| SUPT20HL1_chrX_24355639_24372839 | 24364296 | TGCTGCTG others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG02965.hp1 NA18906.hp1 NA20129.hp1 |
a0020 | a0020c0028a0020c0038 | a0020c0028t0005a0020c0028t0027a0020c0038t0003 | a0020c0028t0005g0000a0020c0028t0027g0000a0020c0038t0003g0000 | 3 | 316 | 0.0095 | -30 | c.155 others(39): Show |
p.Pro others(13): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 1/1 | 3681/7201 | 1559/2664 | 520/887 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| SUPT20H_chr13_37004312_37064688 | 37011574 | TGAAGTTA others(23): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02280.hp1 HG02630.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0003c0003t0001 | a0001c0001t0001g0202a0001c0001t0001g0204a0001c0001t0001g0206others(3): Show | 6 | 304 | 0.0197 | -30 | c.209 others(47): Show |
SUPT20H | ENSG00000102710.21 | transcript | ENST00000350612.11 | protein_coding | 24/25 | chr13 | TogoVar | ||||||
| SUPT3H_chr6_44821726_45382934 | 44956473 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 262 | 0.0038 | -30 | c.581 others(47): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
| SUPT3H_chr6_44821726_45382934 | 45288547 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0078others(4): Show | 7 | 262 | 0.0267 | -30 | c.101 others(49): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar |