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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP4_chr7_21423083_21519822 | 21442029 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(94): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(87): Show |
97 | 424 | 0.2288 | -9 | c.167 others(30): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21487759 | ATGATGGT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00735.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(23): Show |
30 | 360 | 0.0833 | -9 | c.210 others(28): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP7_chr12_53321575_53341354 | 53338106 | CGGAGGAG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG03516.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0065 |
3 | 289 | 0.0104 | -9 | c.-20 others(20): Show |
SP7 | ENSG00000170374.6 | transcript | ENST00000536324.4 | protein_coding | 1753 | chr12 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790875 | AAAAAAAG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01358.hp2 HG01884.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0001g0001 a0001c0001t0009g0011 a0001c0001t0013g0015 others(2): Show |
18 | 414 | 0.0435 | -9 | c.-40 others(20): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3990 | chr7 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602705 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01169.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0000 a0001c0001t0005g0000 |
17 | 281 | 0.0605 | -9 | c.-42 others(20): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4036 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602825 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 84 | 0.0357 | -9 | c.-41 others(20): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 3916 | chr19 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383116 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02451.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0275 |
3 | 284 | 0.0106 | -9 | c.94+ others(24): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112414388 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02148.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0125 others(6): Show |
9 | 14 | 0.6429 | -9 | c.445 others(28): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPAG11A_chr8_7843008_7865943 | 7850566 | TCCATCAG others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0020 a0006c0006t0001g0021 |
2 | 130 | 0.0154 | -9 | c.214 others(26): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG11B_chr8_7445603_7468542 | 7458684 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0103 others(7): Show |
10 | 204 | 0.0490 | -9 | c.214 others(26): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SPAG11B_chr8_7445603_7468542 | 7460968 | ATGATGGG others(2): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03130.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0150 a0006c0008t0001g0151 |
2 | 204 | 0.0098 | -9 | c.214 others(26): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214088349 | TCATCAGA others(2): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01361.hp2 HG01496.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0068 a0001c0001t0001g0069 others(13): Show |
16 | 86 | 0.1860 | -9 | c.152 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214180587 | GTTAGTGC others(2): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02109.hp2 HG02895.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0070 others(7): Show |
10 | 86 | 0.1163 | -9 | c.172 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214229191 | TATATAAA others(2): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 HG01516.hp1 others(34): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0016 others(34): Show |
37 | 86 | 0.4302 | -9 | c.172 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214248287 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02976.hp2 HG03239.hp1 others(3): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0001a0002c0002t0001a0010c0011t0001 | a0001c0001t0001g0013 a0001c0001t0001g0070 a0002c0002t0001g0058 others(3): Show |
6 | 19 | 0.3158 | -9 | c.172 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214301028 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG02886.hp2 others(8): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0042 others(8): Show |
11 | 20 | 0.5500 | -9 | c.172 others(32): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 117956663 | TACAAAAT others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02258.hp2 others(6): Show |
a0005a0011a0014 | a0005c0011a0005c0020a0005c0038others(2): Show | a0005c0011t0002a0005c0020t0002a0005c0038t0002others(2): Show | a0005c0011t0002g0105 a0005c0011t0002g0222 a0005c0020t0002g0162 others(6): Show |
9 | 264 | 0.0341 | -9 | c.*1- others(24): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 48/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118009856 | GGAAAATA others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(60): Show |
a0001a0002a0007others(7): Show | a0001c0010a0002c0002a0002c0008others(9): Show | a0001c0010t0001a0002c0002t0001a0002c0008t0001others(9): Show | a0001c0010t0001g0155 a0001c0010t0001g0159 a0001c0010t0001g0161 others(59): Show |
63 | 264 | 0.2386 | -9 | c.443 others(28): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 30/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100213013 | CCCGCGGC others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp1 others(9): Show |
a0001a0003a0007 | a0001c0003a0003c0004a0003c0018others(1): Show | a0001c0003t0001a0003c0004t0001a0003c0018t0001others(1): Show | a0001c0003t0001g0252 a0001c0003t0001g0255 a0003c0004t0001g0001 others(7): Show |
12 | 117 | 0.1026 | -9 | c.109 others(24): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG8_chr9_35804795_35817262 | 35807404 | AGCTGGGG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00642.hp2 others(88): Show |
a0002a0006 | a0002c0002a0002c0005a0002c0008others(1): Show | a0002c0002t0001a0002c0005t0001a0002c0008t0001others(1): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0005t0001g0005 others(2): Show |
91 | 418 | 0.2177 | -9 | c.*25 others(20): Show |
SPAG8 | ENSG00000137098.14 | transcript | ENST00000396638.7 | protein_coding | 2390 | chr9 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51021822 | TTTGAAGT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(62): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 others(62): Show |
65 | 290 | 0.2241 | -9 | c.784 others(24): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 6/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51080886 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 others(62): Show |
65 | 145 | 0.4483 | -9 | c.304 others(26): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51119033 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01069.hp2 others(35): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0002g0013 others(35): Show |
38 | 152 | 0.2500 | -9 | c.303 others(26): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPANXN5_chrX_52791144_52802427 | 52792390 | GTGTGTGT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01099.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
26 | 299 | 0.0870 | -9 | c.*40 others(20): Show |
SPANXN5 | ENSG00000204363.5 | transcript | ENST00000375511.4 | protein_coding | 3753 | chrX | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083740 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0017 others(3): Show |
6 | 340 | 0.0176 | -9 | c.416 others(26): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32091245 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(133): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0075 others(133): Show |
136 | 155 | 0.8774 | -9 | c.586 others(26): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190251 | TATAATAT others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03225.hp2 HG03492.hp2 |
a0001a0004 | a0001c0001a0001c0002a0004c0038 | a0001c0001t0025a0001c0002t0008a0004c0038t0091 | a0001c0001t0025g0169 a0001c0002t0008g0100 a0004c0038t0091g0168 |
3 | 354 | 0.0085 | -9 | c.-11 others(30): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24302459 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01175.hp2 HG02027.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0001c0006others(3): Show | a0001c0002t0008a0001c0002t0026a0001c0002t0049others(11): Show | a0001c0002t0008g0101 a0001c0002t0026g0063 a0001c0002t0026g0206 others(12): Show |
15 | 106 | 0.1415 | -9 | c.365 others(26): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217633503 | TGGGAGGC others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01069.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(9): Show | a0001c0001t0001g0216 a0001c0001t0006g0096 a0001c0001t0011g0227 others(25): Show |
28 | 250 | 0.1120 | -9 | c.68+ others(24): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217634897 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0027a0001c0004t0052a0001c0004t0053 | a0001c0004t0027g0237 a0001c0004t0052g0238 a0001c0004t0053g0239 |
3 | 111 | 0.0270 | -9 | c.68+ others(24): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217727247 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02976.hp2 HG03688.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0011a0001c0002t0017a0001c0002t0045others(2): Show | a0001c0002t0011g0199 a0001c0002t0017g0151 a0001c0002t0017g0152 others(3): Show |
6 | 94 | 0.0638 | -9 | c.396 others(28): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217786750 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01952.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0041others(4): Show | a0001c0001t0001g0036 a0001c0001t0001g0169 a0001c0001t0001g0172 others(8): Show |
11 | 46 | 0.2391 | -9 | c.872 others(26): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84560100 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03516.hp2 HG04184.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0072 a0003c0004t0001g0076 a0003c0004t0001g0079 others(1): Show |
4 | 305 | 0.0131 | -9 | c.129 others(28): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
SPATA2_chr20_49898391_49920529 | 49916307 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01255.hp2 others(24): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0002t0004a0001c0002t0014others(4): Show | a0001c0002t0001g0001 a0001c0002t0001g0082 a0001c0002t0001g0083 others(7): Show |
27 | 71 | 0.3803 | -9 | c.-10 others(20): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 779 | chr20 | TogoVar | |||||||
SPATA31A6_chr9_42178659_42194887 | 42193219 | GCAGAAAC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(73): Show |
a0001a0004a0014others(9): Show | a0001c0001a0001c0007a0001c0026others(12): Show | a0001c0001t0001a0001c0007t0001a0001c0026t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(21): Show |
76 | 180 | 0.4222 | -9 | c.*34 others(20): Show |
SPATA31A6 | ENSG00000185775.10 | transcript | ENST00000332857.7 | protein_coding | 3333 | chr9 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87913947 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01168.hp1 HG02647.hp1 others(11): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0010a0002c0024others(4): Show | a0001c0001t0001a0001c0010t0001a0002c0024t0001others(4): Show | a0001c0001t0001g0001 a0001c0010t0001g0003 a0002c0024t0001g0001 others(4): Show |
14 | 367 | 0.0381 | -9 | c.-40 others(20): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4014 | chr9 | TogoVar | |||||||
SPATA31C2_chr9_88124305_88143475 | 88135504 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01928.hp1 others(15): Show |
a0006a0017a0022others(1): Show | a0006c0008a0006c0013a0017c0030others(2): Show | a0006c0008t0001a0006c0008t0006a0006c0013t0001others(3): Show | a0006c0008t0001g0011 a0006c0008t0006g0011 a0006c0013t0001g0018 others(5): Show |
18 | 444 | 0.0405 | -9 | c.190 others(26): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SPATA3_chr2_230991121_231013040 | 231005139 | CCACCACC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
a0001a0003 | a0001c0001a0001c0013a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 others(39): Show |
114 | 433 | 0.2633 | -9 | c.*11 others(28): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50128105 | TATATACA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(20): Show |
a0001a0005a0009 | a0001c0001a0005c0009a0009c0012 | a0001c0001t0001a0001c0001t0002a0005c0009t0002others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 others(17): Show |
23 | 326 | 0.0706 | -9 | c.652 others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017160 | GAAGGGGA others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00639.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0107 a0001c0001t0001g0185 a0001c0001t0001g0186 others(67): Show |
70 | 260 | 0.2692 | -9 | c.187 others(30): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48297003 | TCACAATG others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp2 others(51): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0013a0001c0001t0021others(4): Show | a0001c0001t0002g0100 a0001c0001t0002g0152 a0001c0001t0002g0153 others(51): Show |
54 | 320 | 0.1688 | -9 | c.*17 others(20): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 13/13 | 1701 | chr1 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49375184 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG01978.hp2 HG03195.hp2 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018 a0001c0001t0002g0007 a0001c0001t0002g0063 others(3): Show |
6 | 156 | 0.0385 | -9 | c.-24 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49442785 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0033 a0001c0001t0001g0128 a0001c0001t0001g0129 others(8): Show |
11 | 83 | 0.1325 | -9 | c.-24 others(30): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49516167 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01175.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0081 others(6): Show |
9 | 129 | 0.0698 | -9 | c.898 others(26): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | chr12 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176324461 | GTTTGTTC others(2): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0025 | a0001c0001t0023g0021 a0001c0001t0023g0047 a0001c0001t0025g0021 |
4 | 468 | 0.0085 | -9 | c.294 others(24): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDL1_chr5_169578773_169609778 | 169609493 | TAAAAATC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02886.hp2 others(4): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0009c0009t0001 | a0002c0002t0001g0013 a0002c0002t0001g0042 a0009c0009t0001g0041 |
7 | 396 | 0.0177 | -9 | c.*52 others(20): Show |
SPDL1 | ENSG00000040275.17 | transcript | ENST00000265295.9 | protein_coding | 4716 | chr5 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73150908 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02897.hp2 |
a0001a0007 | a0001c0005a0007c0013 | a0001c0005t0013a0007c0013t0022 | a0001c0005t0013g0008 a0007c0013t0022g0007 |
2 | 126 | 0.0159 | -9 | c.-64 others(28): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74903519 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(227): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(81): Show |
230 | 336 | 0.6845 | -9 | c.*22 others(20): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 769 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74912770 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA18964.hp1 NA18993.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0003c0009t0001 | a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show |
7 | 14 | 0.5000 | -9 | c.130 others(24): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76535696 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(41): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0004a0003c0003others(2): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0011others(9): Show | a0002c0002t0002g0059 a0002c0002t0002g0065 a0002c0002t0003g0097 others(37): Show |
44 | 142 | 0.3099 | -9 | c.755 others(24): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 6/8 | chr7 | TogoVar |