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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD8_chr10_75106656_75187123 | 75184587 | GCCTCCCA others(15): Show |
G | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0023 | 1 | 324 | 0.0031 | -22 | c.*78 others(33): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 2465 | chr10 | TogoVar | ||||||
SAMD9_chr7_93094518_93122979 | 93094827 | GACACACA others(15): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0011 | a0001c0002t0010g0133a0001c0002t0011g0134 | 2 | 392 | 0.0051 | -22 | c.*64 others(33): Show |
SAMD9 | ENSG00000205413.8 | transcript | ENST00000379958.3 | protein_coding | 4690 | chr7 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43995349 | CAAGGGCA others(15): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0005 | a0001c0002t0004g0293a0001c0007t0005g0034 | 2 | 378 | 0.0053 | -22 | c.136 others(39): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43998846 | GCTGCCGG others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03130.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0188a0001c0002t0001g0338a0001c0002t0001g0339 | 3 | 378 | 0.0079 | -22 | c.*24 others(33): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 2318 | chr22 | TogoVar | ||||||
SAP25_chr7_100567228_100578900 | 100570843 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG02040.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 23 | 386 | 0.0596 | -22 | c.*14 others(33): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 1384 | chr7 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG03225.hp2 HG03579.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0038a0001c0001t0002g0142a0001c0001t0007g0310others(3): Show | 6 | 322 | 0.0186 | -22 | c.628 others(37): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01243.hp1 others(11): Show |
a0001a0002a0004 | a0001c0003a0001c0013a0002c0005others(2): Show | a0001c0003t0005a0001c0013t0001a0002c0005t0006others(4): Show | a0001c0003t0005g0097a0001c0003t0005g0266a0001c0003t0005g0272others(11): Show | 14 | 322 | 0.0435 | -22 | c.209 others(41): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(15): Show |
C | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | -22 | c.-14 others(33): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23789344 | AAACGCCA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 330 | 0.0030 | -22 | c.*34 others(33): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3135 | chrX | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199321360 | TATATGTA others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG03540.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0002g0163a0001c0001t0002g0233a0001c0001t0007g0077others(4): Show | 7 | 254 | 0.0276 | -22 | c.154 others(41): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386700 | GCGCGCGC others(15): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 254 | 0.0039 | -22 | c.347 others(39): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386704 | GCGCGCGC others(15): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0159others(6): Show | 9 | 254 | 0.0354 | -22 | c.347 others(39): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386708 | GCGCGCGC others(15): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0061a0001c0001t0001g0152a0001c0001t0001g0153others(6): Show | 9 | 254 | 0.0354 | -22 | c.347 others(39): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386710 | GCGCGCGC others(15): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01099.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0086a0001c0001t0001g0151a0001c0001t0002g0063others(3): Show | 6 | 254 | 0.0236 | -22 | c.347 others(39): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386712 | GCGCGCAC others(15): Show |
G | intron_variant | MODIFIER | HG01981.hp2 HG02055.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130a0001c0001t0002g0177a0001c0001t0002g0188 | 3 | 254 | 0.0118 | -22 | c.347 others(39): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386714 | GCGCACAC others(15): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0072 | 1 | 254 | 0.0039 | -22 | c.347 others(39): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
SATL1_chrX_85087284_85248779 | 85220644 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 232 | 0.0043 | -22 | c.-31 others(41): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | ||||||
SAXO1_chr9_18922650_19038209 | 19007684 | TCAGCTTG others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01074.hp1 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0017others(11): Show | a0001c0001t0006g0141a0001c0001t0008g0104a0001c0001t0008g0105others(21): Show | 24 | 364 | 0.0659 | -22 | c.38+ others(39): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10282812 | CCACCATC others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(118): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0015others(118): Show | 121 | 224 | 0.5402 | -22 | c.55+ others(39): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | ||||||
SBK1_chr16_28287525_28328849 | 28321182 | AACACACA others(15): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0157a0001c0001t0158 | a0001c0001t0157g0012a0001c0001t0158g0178 | 2 | 384 | 0.0052 | -22 | c.*29 others(31): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 296 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SBK1_chr16_28287525_28328849 | 28322917 | GCGCTCTC others(15): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02523.hp2 HG02683.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0182 | a0001c0001t0023g0086a0001c0001t0023g0092a0001c0001t0023g0107others(2): Show | 5 | 384 | 0.0130 | -22 | c.*19 others(33): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 1998 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SBK1_chr16_28287525_28328849 | 28322919 | GCTCTCTC others(15): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03579.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0178 | a0001c0001t0058g0124a0001c0001t0178g0073 | 2 | 384 | 0.0052 | -22 | c.*20 others(33): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2010 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SBK1_chr16_28287525_28328849 | 28322931 | CCTCTCTC others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0228 | 1 | 384 | 0.0026 | -22 | c.*20 others(33): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2038 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SBK2_chr19_55523611_55542133 | 55527822 | ACACTCAC others(15): Show |
A | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0223 | 1 | 434 | 0.0023 | -22 | c.*18 others(33): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 788 | chr19 | TogoVar | ||||||
SBNO1_chr12_123284109_123369847 | 123338871 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(54): Show | a0001c0001t0001g0099a0001c0001t0001g0120a0001c0001t0001g0122others(158): Show | 161 | 260 | 0.6192 | -22 | c.651 others(39): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 5/31 | chr12 | TogoVar | ||||||
SC5D_chr11_121287771_121318410 | 121315639 | AAGCATTT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0023 | 1 | 424 | 0.0024 | -22 | c.*81 others(33): Show |
SC5D | ENSG00000109929.10 | transcript | ENST00000264027.9 | protein_coding | 2230 | chr11 | TogoVar | ||||||
SCAF4_chr21_31666000_31737118 | 31717892 | TATACACA others(15): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 352 | 0.0028 | -22 | c.31- others(39): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1/19 | chr21 | TogoVar | ||||||
SCAF4_chr21_31666000_31737118 | 31721307 | GTGATTTA others(15): Show |
G | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 352 | 0.0028 | -22 | c.30+ others(39): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1/19 | chr21 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154784120 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG03195.hp2 HG03453.hp1 NA19043.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0272a0003c0003t0002g0273a0003c0003t0002g0274 | 3 | 282 | 0.0106 | -22 | c.160 others(39): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCAI_chr9_124937608_125148528 | 125004734 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02145.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(3): Show | a0001c0001t0001g0011a0001c0001t0009g0014a0001c0001t0018g0181others(6): Show | 9 | 306 | 0.0294 | -22 | c.862 others(39): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004759 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0028others(1): Show | a0001c0001t0002g0028a0001c0001t0002g0032a0001c0001t0002g0123others(4): Show | 7 | 306 | 0.0229 | -22 | c.862 others(39): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004761 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01106.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009 | a0001c0001t0002g0023a0001c0001t0002g0033a0001c0001t0002g0058others(13): Show | 16 | 306 | 0.0523 | -22 | c.862 others(39): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78393824 | ACAGTTGA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(90): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(10): Show | a0001c0001t0001g0157a0001c0001t0001g0174a0001c0001t0001g0175others(90): Show | 93 | 332 | 0.2801 | -22 | c.135 others(39): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SCAMP1_chr5_78355617_78485739 | 78460805 | CTCCCTTC others(15): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01123.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040 | a0001c0001t0002g0064a0001c0001t0002g0074a0001c0001t0002g0077others(10): Show | 13 | 332 | 0.0392 | -22 | c.852 others(39): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78469911 | AACAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01496.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0006a0001c0001t0022others(2): Show | a0001c0001t0005g0148a0001c0001t0006g0006a0001c0001t0006g0127others(7): Show | 10 | 332 | 0.0301 | -22 | c.853 others(39): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SCAMP3_chr1_155250981_155267360 | 155258318 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0047 | 2 | 375 | 0.0053 | -22 | c.517 others(37): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74990992 | CTCTCTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 370 | 0.0027 | -22 | c.-47 others(33): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4570 | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76495989 | GAGAGACA others(15): Show |
G | intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0274 | 1 | 312 | 0.0032 | -22 | c.295 others(41): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76637734 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0176 | 1 | 312 | 0.0032 | -22 | c.264 others(43): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | ||||||
SCAP_chr3_47408681_47480941 | 47455062 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 304 | 0.0033 | -22 | c.-98 others(41): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
SCARA3_chr8_27628902_27678018 | 27654633 | TGGCACAT others(15): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG06807.hp1 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0106a0008c0008t0001g0297 | 2 | 408 | 0.0049 | -22 | c.227 others(39): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(15): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02135.hp1 HG02135.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0002g0105a0001c0001t0007g0094a0001c0002t0001g0253others(5): Show | 8 | 314 | 0.0255 | -22 | c.*63 others(33): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | ||||||
SCARB1_chr12_124771856_124868864 | 124837541 | AAGAAAAG others(15): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp2 HG03195.hp2 |
a0001a0003 | a0001c0005a0003c0009 | a0001c0005t0003a0003c0009t0003 | a0001c0005t0003g0354a0001c0005t0003g0355a0003c0009t0003g0123 | 3 | 356 | 0.0084 | -22 | c.127 others(41): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
SCARB1_chr12_124771856_124868864 | 124837571 | AAGAAAAG others(15): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01175.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0092a0001c0001t0001g0146a0001c0001t0001g0162others(32): Show | 35 | 356 | 0.0983 | -22 | c.127 others(41): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
SCARF1_chr17_1628858_1650732 | 1640366 | GGGTGGTG others(15): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 401 | 0.0025 | -22 | c.101 others(37): Show |
SCARF1 | ENSG00000074660.17 | transcript | ENST00000263071.9 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
SCD5_chr4_82624539_82803796 | 82712243 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02132.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046a0001c0001t0002g0109a0001c0001t0002g0110others(2): Show | 5 | 210 | 0.0238 | -22 | c.233 others(39): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77593259 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0013 | a0013c0013 | a0013c0013t0002 | a0013c0013t0002g0199 | 1 | 356 | 0.0028 | -22 | c.693 others(37): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 11/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SCFD1_chr14_30617319_30740850 | 30698666 | TAGTTGCG others(15): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0148 | 1 | 328 | 0.0031 | -22 | c.134 others(41): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCFD1_chr14_30617319_30740850 | 30703942 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153a0001c0001t0001g0200 | 2 | 328 | 0.0061 | -22 | c.149 others(41): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 162 | 0.0062 | -22 | c.196 others(41): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar |