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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SND1_chr7_127647194_128097593 | 127872628 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0033 a0001c0002t0001g0031 |
2 | 262 | 0.0076 | -12 | c.134 others(33): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127877838 | AGGTGTTT others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 262 | 0.0038 | -12 | c.134 others(33): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127908318 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03130.hp1 NA18980.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0259 a0001c0002t0001g0216 |
2 | 262 | 0.0076 | -12 | c.152 others(31): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127915996 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01943.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112 a0001c0001t0002g0034 a0001c0001t0002g0113 others(2): Show |
5 | 262 | 0.0191 | -12 | c.152 others(33): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127926720 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 262 | 0.0038 | -12 | c.152 others(31): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127953151 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0046 others(24): Show |
27 | 262 | 0.1031 | -12 | c.166 others(33): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 128040437 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0254 | 1 | 262 | 0.0038 | -12 | c.178 others(33): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 240996085 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0025 | a0001c0025t0009 | a0001c0025t0009g0073 | 1 | 344 | 0.0029 | -12 | c.-27 others(23): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 2532 | chr2 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241085860 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
a0010 | a0010c0017 | a0010c0017t0024a0010c0017t0056 | a0010c0017t0024g0042 a0010c0017t0024g0225 a0010c0017t0024g0338 others(1): Show |
4 | 344 | 0.0116 | -12 | c.412 others(31): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNF8_chr17_48924316_48949842 | 48942847 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp1 NA18940.hp1 NA19083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0160 a0001c0001t0001g0161 others(2): Show |
5 | 392 | 0.0128 | -12 | c.105 others(29): Show |
SNF8 | ENSG00000159210.10 | transcript | ENST00000502492.6 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
SNIP1_chr1_37529449_37559293 | 37548152 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 a0001c0001t0007g0253 a0001c0001t0007g0254 others(1): Show |
7 | 394 | 0.0178 | -12 | c.327 others(29): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
SNN_chr16_11663455_11684152 | 11668905 | AGCTCCGG others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 440 | 0.0023 | -12 | c.-86 others(27): Show |
SNN | ENSG00000184602.6 | transcript | ENST00000329565.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNN_chr16_11663455_11684152 | 11675247 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18939.hp1 NA18959.hp2 NA18975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0050 |
7 | 440 | 0.0159 | -12 | c.-85 others(27): Show |
SNN | ENSG00000184602.6 | transcript | ENST00000329565.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNORC_chr2_232865264_232883700 | 232883052 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp1 HG01993.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0005 a0001c0001t0005g0013 a0001c0001t0005g0039 others(3): Show |
11 | 452 | 0.0243 | -12 | c.*66 others(23): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 4353 | chr2 | TogoVar | |||||||
SNORC_chr2_232865264_232883700 | 232883071 | ACACACAC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 NA19067.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 3 | 452 | 0.0066 | -12 | c.*67 others(23): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 4372 | chr2 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1286089 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 350 | 0.0029 | -12 | c.-49 others(31): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1289512 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02738.hp2 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0093 a0001c0002t0001g0116 |
2 | 350 | 0.0057 | -12 | c.-49 others(31): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1298804 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01081.hp1 others(28): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0167 a0001c0001t0003g0017 a0001c0001t0003g0018 others(25): Show |
31 | 350 | 0.0886 | -12 | c.290 others(29): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43283899 | TCACACAC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(163): Show |
172 | 258 | 0.6667 | -12 | c.-29 others(23): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 2640 | chr3 | TogoVar | |||||||
SNRK_chr3_43281540_43356143 | 43339815 | CAAAATAT others(5): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 258 | 0.0039 | -12 | c.732 others(27): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SNRK_chr3_43281540_43356143 | 43339818 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0122 a0001c0001t0001g0130 others(13): Show |
17 | 258 | 0.0659 | -12 | c.732 others(27): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRNP200_chr2_96269338_96310546 | 96280848 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 352 | 0.0028 | -12 | c.502 others(29): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 35/44 | chr2 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 52446 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp2 HG03041.hp2 NA18950.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0003g0010 a0001c0001t0004g0004 |
5 | 424 | 0.0118 | -12 | c.-15 others(23): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1381 | chr16 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69902656 | TCTTCTGC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(265): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0063 others(112): Show |
268 | 440 | 0.6091 | -12 | c.349 others(27): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123456736 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0004 | a0001c0001t0004g0076 a0001c0001t0007g0006 a0001c0002t0004g0091 |
3 | 186 | 0.0161 | -12 | c.-14 others(23): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1402 | chr12 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31282471 | CTATCTAT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00609.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0027 a0001c0001t0002g0222 a0001c0001t0002g0223 others(42): Show |
46 | 354 | 0.1299 | -12 | c.532 others(27): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31282483 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0075 a0001c0001t0001g0087 |
4 | 354 | 0.0113 | -12 | c.532 others(27): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31282558 | GCTATCTA others(5): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG01517.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0140 others(7): Show |
10 | 354 | 0.0283 | -12 | c.532 others(29): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31282605 | ATCTATCT others(5): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 354 | 0.0028 | -12 | c.532 others(29): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31292639 | TGATTTTT others(5): Show |
T | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0285 | 1 | 354 | 0.0028 | -12 | c.271 others(27): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7610689 | GATTGAAA others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(166): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(48): Show |
169 | 426 | 0.3967 | -12 | c.*18 others(23): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 9/9 | 1818 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNRPA1_chr15_101276510_101300248 | 101296655 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 442 | 0.0023 | -12 | c.-14 others(23): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 1408 | chr15 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40761458 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(52): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0046 others(29): Show |
55 | 412 | 0.1335 | -12 | c.427 others(29): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40766508 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(68): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0046 others(43): Show |
71 | 412 | 0.1723 | -12 | c.*13 others(23): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1120 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40767512 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0125 a0001c0001t0003g0006 a0001c0001t0003g0038 others(3): Show |
8 | 412 | 0.0194 | -12 | c.*23 others(23): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 2124 | chr19 | TogoVar | |||||||
SNRPB2_chr20_16725026_16747564 | 16725076 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01106.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0016 a0001c0001t0004g0010 a0001c0001t0004g0077 others(5): Show |
25 | 472 | 0.0530 | -12 | c.-51 others(23): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 4949 | chr20 | TogoVar | |||||||
SNRPB_chr20_2456642_2475789 | 2471196 | CCCTCACC others(5): Show |
C | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 374 | 0.0027 | -12 | c.-51 others(21): Show |
SNRPB | ENSG00000125835.20 | transcript | ENST00000381342.7 | protein_coding | 408 | chr20 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24561064 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 400 | 0.0025 | -12 | c.126 others(29): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203869289 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0058 | 1 | 416 | 0.0024 | -12 | c.224 others(27): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203872608 | AGCTTCCC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011 | a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0010 others(36): Show |
89 | 416 | 0.2139 | -12 | c.*26 others(23): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 1457 | chr1 | TogoVar | |||||||
SNRPF_chr12_95853952_95871140 | 95870485 | ATTAGGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18972.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 440 | 0.0046 | -12 | c.*44 others(23): Show |
SNRPF | ENSG00000139343.11 | transcript | ENST00000266735.10 | protein_coding | 4346 | chr12 | TogoVar | |||||||
SNRPG_chr2_70276362_70298740 | 70290823 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG03710.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0192 a0001c0001t0002g0078 a0001c0001t0002g0079 |
3 | 424 | 0.0071 | -12 | c.33- others(27): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
SNRPG_chr2_70276362_70298740 | 70291014 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02896.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0113 a0001c0001t0001g0170 a0001c0001t0001g0248 others(2): Show |
5 | 424 | 0.0118 | -12 | c.33- others(27): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
SNTA1_chr20_33402957_33448763 | 33418792 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 NA18522.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0213 a0003c0005t0001g0101 a0003c0005t0001g0309 |
3 | 354 | 0.0085 | -12 | c.497 others(27): Show |
SNTA1 | ENSG00000101400.6 | transcript | ENST00000217381.3 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
SNTA1_chr20_33402957_33448763 | 33430287 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 NA18522.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0101 a0003c0005t0001g0309 |
2 | 354 | 0.0057 | -12 | c.496 others(29): Show |
SNTA1 | ENSG00000101400.6 | transcript | ENST00000217381.3 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120562876 | AAAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0220 others(6): Show |
9 | 254 | 0.0354 | -12 | c.113 others(33): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120571479 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03688.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0068 |
2 | 254 | 0.0079 | -12 | c.113 others(31): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120579177 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 254 | 0.0039 | -12 | c.997 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120583514 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG02027.hp2 others(30): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0080 a0001c0001t0001g0082 others(30): Show |
33 | 254 | 0.1299 | -12 | c.997 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120592585 | TGCTATGT others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 254 | 0.0039 | -12 | c.997 others(31): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 3/6 | chr8 | TogoVar |