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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNED1_chr2_240993618_241100568 | 241057380 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0008 | a0008c0069 | a0008c0069t0016 | a0008c0069t0016g0133 | 1 | 344 | 0.0029 | -10 | c.225 others(29): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241071853 | CAGCAAAG others(3): Show |
C | frameshift_variant | HIGH | NA18989.hp1 | a0023 | a0023c0076 | a0023c0076t0006 | a0023c0076t0006g0288 | 1 | 344 | 0.0029 | -10 | c.379 others(19): Show |
p.Ser others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 26/32 | 4013/8394 | 3793/4242 | 1265/1413 | chr2 | TogoVar | |||
SNIP1_chr1_37529449_37559293 | 37551074 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0155 | 1 | 394 | 0.0025 | -10 | c.327 others(27): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
SNN_chr16_11663455_11684152 | 11665268 | ACCCCAGC others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02559.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0098 a0001c0001t0007g0007 others(2): Show |
16 | 440 | 0.0364 | -10 | c.-33 others(21): Show |
SNN | ENSG00000184602.6 | transcript | ENST00000329565.6 | protein_coding | 3186 | chr16 | TogoVar | |||||||
SNN_chr16_11663455_11684152 | 11675248 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | NA18971.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0069 |
2 | 440 | 0.0046 | -10 | c.-85 others(25): Show |
SNN | ENSG00000184602.6 | transcript | ENST00000329565.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNORC_chr2_232865264_232883700 | 232883052 | AACACACA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00621.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0002g0007 a0001c0001t0004g0004 a0001c0001t0004g0019 others(4): Show |
46 | 452 | 0.1018 | -10 | c.*66 others(21): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 4353 | chr2 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1289512 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG02615.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0015others(2): Show | a0001c0001t0002g0186 a0001c0001t0009g0265 a0001c0001t0015g0032 others(3): Show |
6 | 350 | 0.0171 | -10 | c.-49 others(29): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1298804 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0155 | 1 | 350 | 0.0029 | -10 | c.290 others(27): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43283899 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00642.hp2 others(39): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 others(36): Show |
42 | 258 | 0.1628 | -10 | c.-29 others(21): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 2640 | chr3 | TogoVar | |||||||
SNRK_chr3_43281540_43356143 | 43321308 | TTTTATGT others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0214 |
2 | 258 | 0.0078 | -10 | c.590 others(29): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43339818 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG01928.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0003t0005others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0104 a0001c0001t0001g0125 others(9): Show |
12 | 258 | 0.0465 | -10 | c.732 others(25): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRNP200_chr2_96269338_96310546 | 96281163 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA19043.hp2 NA19240.hp1 |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0190 a0001c0007t0004g0191 a0001c0007t0004g0192 |
3 | 352 | 0.0085 | -10 | c.502 others(27): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 35/44 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69891672 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp1 HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 |
3 | 440 | 0.0068 | -10 | c.-23 others(21): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 2283 | chr2 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123456736 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0011 others(5): Show |
8 | 186 | 0.0430 | -10 | c.-14 others(21): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1402 | chr12 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49113459 | GATTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 366 | 0.0027 | -10 | c.*50 others(21): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4856 | chr19 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101299183 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG03195.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0016 a0001c0001t0001g0062 a0004c0008t0001g0066 |
6 | 442 | 0.0136 | -10 | c.-40 others(21): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3936 | chr15 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40753382 | ATGTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 412 | 0.0024 | -10 | c.73+ others(25): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40756781 | TCGTGGTC others(3): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0265 | 1 | 412 | 0.0024 | -10 | c.74- others(23): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40767509 | AAAAGTGT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 412 | 0.0024 | -10 | c.*23 others(21): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 2121 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40767510 | AAAGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0003 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(34): Show |
57 | 412 | 0.1384 | -10 | c.*23 others(21): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 2122 | chr19 | TogoVar | |||||||
SNRPB2_chr20_16725026_16747564 | 16725076 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG01884.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0004g0020 others(8): Show |
30 | 472 | 0.0636 | -10 | c.-51 others(21): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 4949 | chr20 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34752678 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0118 others(2): Show |
10 | 368 | 0.0272 | -10 | c.-48 others(21): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4826 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34752704 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 368 | 0.0109 | -10 | c.-48 others(21): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4800 | chr6 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21632825 | TTTTTCTT others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0188 | 1 | 358 | 0.0028 | -10 | c.*37 others(21): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4/4 | 3712 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SNRPD2_chr19_45682460_45696953 | 45689511 | TACAAAAC others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 438 | 0.0023 | -10 | c.3-9 others(21): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
SNRPD2_chr19_45682460_45696953 | 45694459 | TTTTTATT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG01433.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(9): Show |
25 | 438 | 0.0571 | -10 | c.-25 others(21): Show |
SNRPD2 | ENSG00000125743.11 | transcript | ENST00000342669.8 | protein_coding | 2507 | chr19 | TogoVar | |||||||
SNRPD3_chr22_24550999_24579971 | 24563234 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0198 a0001c0002t0003g0203 |
2 | 400 | 0.0050 | -10 | c.127 others(27): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNRPE_chr1_203856599_203876152 | 203864876 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(172): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(44): Show |
175 | 416 | 0.4207 | -10 | c.145 others(25): Show |
SNRPE | ENSG00000182004.13 | transcript | ENST00000414487.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRPG_chr2_70276362_70298740 | 70291014 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01975.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0295 a0001c0001t0003g0092 |
2 | 424 | 0.0047 | -10 | c.33- others(25): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
SNRPN_chr15_24949987_24983723 | 24958486 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0055 |
5 | 346 | 0.0145 | -10 | c.-39 others(29): Show |
SNRPN | ENSG00000128739.23 | transcript | ENST00000390687.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNTA1_chr20_33402957_33448763 | 33418792 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(77): Show |
a0001a0005 | a0001c0001a0005c0016 | a0001c0001t0001a0005c0016t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(63): Show |
80 | 354 | 0.2260 | -10 | c.497 others(25): Show |
SNTA1 | ENSG00000101400.6 | transcript | ENST00000217381.3 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120539295 | ACAGTATG others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00639.hp1 others(137): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(137): Show |
140 | 254 | 0.5512 | -10 | c.152 others(27): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120566329 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 254 | 0.0039 | -10 | c.113 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120571479 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02273.hp2 HG03017.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0071 a0001c0001t0002g0128 a0001c0001t0007g0060 |
3 | 254 | 0.0118 | -10 | c.113 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120583514 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp2 others(53): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(53): Show |
56 | 254 | 0.2205 | -10 | c.997 others(27): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120654039 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0206 |
2 | 254 | 0.0079 | -10 | c.789 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120682382 | CACCAGGC others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp2 others(15): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(15): Show |
18 | 254 | 0.0709 | -10 | c.788 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120691021 | AATCGTCA others(3): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 254 | 0.0039 | -10 | c.788 others(27): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120746063 | TGCAGAGT others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0013 | a0001c0001t0001g0012 a0006c0008t0013g0002 |
2 | 254 | 0.0079 | -10 | c.572 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120755165 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02976.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0048 a0001c0002t0006g0236 |
2 | 254 | 0.0079 | -10 | c.571 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120755167 | TGTGTGAG others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00639.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 others(56): Show |
59 | 254 | 0.2323 | -10 | c.571 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120755169 | TGTGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG02148.hp2 NA18612.hp2 NA18957.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0002g0149 others(2): Show |
5 | 254 | 0.0197 | -10 | c.571 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120779512 | GAAATAAA others(3): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0209 a0001c0001t0002g0048 a0001c0001t0005g0057 others(6): Show |
9 | 254 | 0.0354 | -10 | c.571 others(29): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69219713 | ATTTTATT others(3): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0013a0001c0001t0016others(2): Show | a0001c0001t0006g0049 a0001c0001t0006g0054 a0001c0001t0006g0063 others(10): Show |
13 | 218 | 0.0596 | -10 | c.581 others(29): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69219718 | ATTTTGTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00738.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0173 a0001c0001t0002g0098 a0001c0001t0003g0100 others(12): Show |
15 | 218 | 0.0688 | -10 | c.581 others(29): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69227841 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0069 | 1 | 218 | 0.0046 | -10 | c.581 others(29): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69241168 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0047 | 1 | 218 | 0.0046 | -10 | c.581 others(27): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69266364 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 218 | 0.0046 | -10 | c.100 others(29): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69278889 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013 | a0001c0001t0011g0170 a0001c0001t0013g0056 a0001c0001t0013g0062 |
3 | 218 | 0.0138 | -10 | c.114 others(29): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69292352 | TTTTATAT others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02055.hp2 HG02145.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0016a0001c0002t0009others(2): Show | a0001c0001t0006g0049 a0001c0001t0006g0052 a0001c0001t0006g0054 others(16): Show |
19 | 218 | 0.0872 | -10 | c.134 others(29): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |