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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG16_chr2_213279464_214415501 | 213871875 | CACACAG | C | intron_variant | MODIFIER | HG02015.hp2 HG02976.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0002g0001 a0002c0002t0001g0059 |
3 | 86 | 0.0349 | -6 | c.121 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213871877 | CACAGAG | C | intron_variant | MODIFIER | HG02559.hp1 HG03225.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 |
3 | 86 | 0.0349 | -6 | c.121 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213894987 | CAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 HG01496.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0039 others(18): Show |
21 | 86 | 0.2442 | -6 | c.121 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213928904 | TACACAC | T | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01256.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0002g0001 others(33): Show |
36 | 86 | 0.4186 | -6 | c.121 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213932147 | CATATAT | C | intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG03225.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0002g0072 a0002c0002t0001g0063 others(2): Show |
5 | 86 | 0.0581 | -6 | c.140 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213932949 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01496.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 others(5): Show |
8 | 86 | 0.0930 | -6 | c.140 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213976133 | TATACAC | T | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01256.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0030 others(16): Show |
19 | 86 | 0.2209 | -6 | c.140 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213982610 | GGTGTGT | G | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02895.hp2 others(3): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show |
6 | 86 | 0.0698 | -6 | c.140 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213982732 | ATAAGAG | A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01256.hp2 others(49): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 others(49): Show |
52 | 86 | 0.6047 | -6 | c.140 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214007151 | CTTATAT | C | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG02895.hp2 others(3): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show |
6 | 86 | 0.0698 | -6 | c.140 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214042003 | TATATAC | T | intron_variant | MODIFIER | HG02293.hp1 HG02886.hp1 HG02895.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0061 others(9): Show |
12 | 86 | 0.1395 | -6 | c.152 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214042433 | AAACAAC | A | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(45): Show |
48 | 86 | 0.5581 | -6 | c.152 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214056280 | TACACAC | T | intron_variant | MODIFIER | HG01256.hp1 HG01361.hp2 HG01496.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0001t0001g0069 others(6): Show |
9 | 86 | 0.1047 | -6 | c.152 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214102110 | TTTTTTG | T | intron_variant | MODIFIER | HG01256.hp2 HG02647.hp1 HG02886.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0078 others(5): Show |
8 | 86 | 0.0930 | -6 | c.152 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214102776 | AGAGACC | A | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02015.hp1 others(7): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0048 others(7): Show |
10 | 86 | 0.1163 | -6 | c.152 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214165469 | CTTTTTT | C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0002c0002t0002a0005c0005t0001 | a0001c0001t0002g0007 a0001c0001t0002g0008 a0002c0002t0002g0052 others(1): Show |
4 | 86 | 0.0465 | -6 | c.172 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214168868 | TACTTAA | T | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02886.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0016 a0001c0001t0002g0001 a0001c0001t0002g0009 others(7): Show |
10 | 86 | 0.1163 | -6 | c.172 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214193426 | TGAGAGA | T | intron_variant | MODIFIER | HG02559.hp2 NA20129.hp1 NA20300.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 |
3 | 86 | 0.0349 | -6 | c.172 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214227702 | ATGTGTG | A | intron_variant | MODIFIER | HG02922.hp2 HG03471.hp1 NA18522.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0002 | a0001c0001t0002g0006 a0002c0002t0002g0074 a0003c0003t0002g0042 |
3 | 86 | 0.0349 | -6 | c.172 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214233341 | AATAATG | A | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 NA19043.hp1 |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0002a0005c0005t0001a0006c0006t0001 | a0001c0001t0002g0067 a0005c0005t0001g0081 a0006c0006t0001g0024 |
3 | 86 | 0.0349 | -6 | c.172 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214248287 | ATATTAT | A | intron_variant | MODIFIER | HG01256.hp1 HG02293.hp1 HG02647.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0033 others(6): Show |
9 | 86 | 0.1047 | -6 | c.172 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214250733 | GATATAT | G | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 HG03453.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0034 others(4): Show |
7 | 86 | 0.0814 | -6 | c.172 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214250753 | TATATAG | T | intron_variant | MODIFIER | HG01496.hp1 HG02015.hp2 NA18993.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0025 a0002c0002t0001g0059 a0002c0002t0001g0063 others(2): Show |
5 | 86 | 0.0581 | -6 | c.172 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214250757 | TAGAGAG | T | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG03098.hp1 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0002c0002t0001a0005c0005t0001 | a0001c0001t0002g0044 a0002c0002t0001g0054 a0005c0005t0001g0005 |
3 | 86 | 0.0349 | -6 | c.172 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214298153 | CACATAT | C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01256.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0048 others(25): Show |
28 | 86 | 0.3256 | -6 | c.172 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214301028 | TATAATA | T | intron_variant | MODIFIER | HG01256.hp1 HG01361.hp1 HG01496.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0016 others(21): Show |
24 | 86 | 0.2791 | -6 | c.172 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214301220 | TAATATC | T | intron_variant | MODIFIER | HG01256.hp1 HG01496.hp2 HG01516.hp1 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0033 others(21): Show |
24 | 86 | 0.2791 | -6 | c.172 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214304835 | ATACATG | A | intron_variant | MODIFIER | NA18992.hp1 NA18993.hp1 NA19000.hp2 others(3): Show |
a0003a0011 | a0003c0003a0011c0009 | a0003c0003t0001a0011c0009t0001 | a0003c0003t0001g0028 a0003c0003t0001g0032 a0003c0003t0001g0043 others(3): Show |
6 | 86 | 0.0698 | -6 | c.172 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 117960142 | GTGTGTA | G | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02273.hp1 others(4): Show |
a0002a0005a0014 | a0002c0002a0005c0011a0005c0020others(2): Show | a0002c0002t0001a0005c0011t0002a0005c0020t0002others(2): Show | a0002c0002t0001g0032 a0005c0011t0002g0104 a0005c0020t0002g0157 others(4): Show |
7 | 266 | 0.0263 | -6 | c.667 others(25): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 48/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 117995695 | AACACAC | A | intron_variant | MODIFIER | HG01070.hp2 HG01943.hp2 HG02258.hp2 others(2): Show |
a0001a0003a0011 | a0001c0006a0003c0003a0011c0015 | a0001c0006t0001a0003c0003t0001a0011c0015t0002 | a0001c0006t0001g0193 a0003c0003t0001g0114 a0003c0003t0001g0115 others(2): Show |
5 | 266 | 0.0188 | -6 | c.505 others(23): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 34/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118009248 | AACACAC | A | intron_variant | MODIFIER | HG00597.hp2 HG02258.hp2 HG02965.hp2 others(2): Show |
a0004a0011 | a0004c0005a0011c0015 | a0004c0005t0001a0011c0015t0002 | a0004c0005t0001g0125 a0004c0005t0001g0242 a0004c0005t0001g0248 others(2): Show |
5 | 266 | 0.0188 | -6 | c.443 others(25): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 30/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118010275 | CAACCGT | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(58): Show |
a0001a0002a0008others(5): Show | a0001c0010a0002c0002a0002c0008others(7): Show | a0001c0010t0001a0002c0002t0001a0002c0008t0001others(7): Show | a0001c0010t0001g0150 a0001c0010t0001g0154 a0001c0010t0001g0156 others(57): Show |
61 | 266 | 0.2293 | -6 | c.443 others(25): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 30/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118081058 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0002a0003others(11): Show | a0001c0004a0001c0026a0001c0027others(14): Show | a0001c0004t0001a0001c0004t0003a0001c0026t0001others(16): Show | a0001c0004t0001g0143 a0001c0004t0001g0220 a0001c0004t0001g0222 others(92): Show |
95 | 266 | 0.3571 | -6 | c.220 others(21): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 15/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118111553 | AACACAC | A | intron_variant | MODIFIER | NA18941.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0201 |
2 | 266 | 0.0075 | -6 | c.447 others(23): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 4/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118120318 | GATTAAA | G | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01934.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0019 a0002c0002t0001g0020 others(3): Show |
7 | 266 | 0.0263 | -6 | c.316 others(23): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 3/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118135371 | ATGTGTG | A | intron_variant | MODIFIER | HG02040.hp1 HG02258.hp2 HG02735.hp1 others(3): Show |
a0002a0004a0008others(2): Show | a0002c0002a0004c0005a0008c0033others(2): Show | a0002c0002t0001a0004c0005t0001a0008c0033t0001others(2): Show | a0002c0002t0001g0031 a0004c0005t0001g0249 a0008c0033t0001g0014 others(3): Show |
6 | 266 | 0.0226 | -6 | c.315 others(25): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 3/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100214988 | CATATAT | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01071.hp2 others(18): Show |
a0001a0002a0009 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0009t0001others(2): Show | a0001c0002t0001g0087 a0001c0002t0001g0099 a0001c0002t0001g0122 others(18): Show |
21 | 366 | 0.0574 | -6 | c.153 others(25): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100220550 | ATTGCCT | A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp1 others(5): Show |
a0003 | a0003c0004a0003c0018 | a0003c0004t0001a0003c0018t0001 | a0003c0004t0001g0024 a0003c0004t0001g0049 a0003c0004t0001g0050 others(5): Show |
8 | 366 | 0.0219 | -6 | c.168 others(23): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG6_chr10_22340496_22422610 | 22346430 | GTTCTTC | G | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(3): Show |
6 | 142 | 0.0423 | -6 | c.121 others(21): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG8_chr9_35804795_35817262 | 35812101 | CACCGCG | C | frameshift_variant others(3): Show |
HIGH | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 14 | 420 | 0.0333 | -6 | c.41_ others(13): Show |
p.Ser others(4): Show |
SPAG8 | ENSG00000137098.14 | transcript | ENST00000396638.7 | protein_coding | 1/7 | 41/1458 | 14/485 | chr9 | TogoVar | ||||
SPAG9_chr17_50957174_51125868 | 51053855 | GTATATA | G | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG01928.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0002g0071 others(7): Show |
10 | 292 | 0.0343 | -6 | c.495 others(23): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51089620 | TTATATA | T | intron_variant | MODIFIER | HG01433.hp1 HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0074 a0001c0001t0003g0166 a0001c0001t0004g0150 |
3 | 292 | 0.0103 | -6 | c.304 others(23): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51089659 | TATATAC | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0230 a0001c0001t0002g0210 a0001c0001t0004g0184 others(1): Show |
4 | 292 | 0.0137 | -6 | c.304 others(23): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51106102 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0060 others(21): Show |
24 | 292 | 0.0822 | -6 | c.303 others(25): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAM1_chr7_123920241_123965046 | 123947578 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(113): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0030 others(93): Show |
116 | 388 | 0.2990 | -6 | c.-31 others(25): Show |
SPAM1 | ENSG00000106304.16 | transcript | ENST00000682466.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPANXN1_chrX_145242503_145261208 | 145256945 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG03209.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0087 a0001c0004t0004g0098 a0001c0004t0004g0099 |
3 | 334 | 0.0090 | -6 | c.*11 others(17): Show |
SPANXN1 | ENSG00000203923.5 | transcript | ENST00000370493.4 | protein_coding | 738 | chrX | TogoVar | |||||||
SPANXN1_chrX_145242503_145261208 | 145260654 | CTGTGTG | C | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 334 | 0.0030 | -6 | c.*48 others(17): Show |
SPANXN1 | ENSG00000203923.5 | transcript | ENST00000370493.4 | protein_coding | 4447 | chrX | TogoVar | |||||||
SPANXN2_chrX_143706955_143725752 | 143709468 | AACACAC | A | downstream_gene_variant | MODIFIER | HG00735.hp1 NA18967.hp1 NA19074.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0002 a0001c0003t0001g0013 a0001c0003t0001g0032 |
3 | 336 | 0.0089 | -6 | c.*25 others(17): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 2486 | chrX | TogoVar | |||||||
SPANXN2_chrX_143706955_143725752 | 143710067 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01123.hp1 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0051 others(11): Show |
22 | 336 | 0.0655 | -6 | c.*19 others(17): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 1887 | chrX | TogoVar | |||||||
SPANXN5_chrX_52791144_52802427 | 52792364 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 303 | 0.0099 | -6 | c.*41 others(17): Show |
SPANXN5 | ENSG00000204363.5 | transcript | ENST00000375511.4 | protein_coding | 3779 | chrX | TogoVar |