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 | 214288752 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0014 a0002c0002t0001g0018 a0003c0003t0001g0032 others(2): Show |
5 | 86 | 0.0581 | 8 | c.172 others(31): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214319200 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02559.hp2 HG02615.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 others(10): Show |
13 | 86 | 0.1512 | 8 | 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 | 117995735 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01934.hp1 NA18941.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 a0002c0002t0001g0054 a0002c0002t0001g0056 |
3 | 266 | 0.0113 | 8 | c.505 others(25): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 34/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118051544 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(159): Show |
a0001a0002a0003others(16): Show | a0001c0004a0001c0006a0001c0010others(23): Show | a0001c0004t0001a0001c0004t0003a0001c0006t0001others(25): Show | a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 others(158): Show |
162 | 266 | 0.6090 | 8 | c.281 others(27): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 20/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118062366 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01109.hp1 others(40): Show |
a0001a0002a0003others(6): Show | a0001c0010a0002c0002a0002c0008others(7): Show | a0001c0010t0001a0002c0002t0001a0002c0008t0001others(7): Show | a0001c0010t0001g0156 a0002c0002t0001g0010 a0002c0002t0001g0011 others(40): Show |
43 | 266 | 0.1617 | 8 | c.254 others(27): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 18/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118103840 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02630.hp1 others(8): Show |
a0001a0005a0014 | a0001c0001a0001c0004a0001c0010others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0211 a0001c0004t0001g0143 a0001c0010t0001g0150 others(8): Show |
11 | 266 | 0.0414 | 8 | c.448 others(25): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 4/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118111553 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp2 others(57): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0006a0001c0032others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(11): Show | a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0160 others(57): Show |
60 | 266 | 0.2256 | 8 | c.447 others(25): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 4/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118136801 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02135.hp1 HG02523.hp2 others(3): Show |
a0002a0025 | a0002c0002a0025c0031 | a0002c0002t0001a0025c0031t0002 | a0002c0002t0001g0011 a0002c0002t0001g0030 a0002c0002t0001g0058 others(3): Show |
6 | 266 | 0.0226 | 8 | c.315 others(27): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 3/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100170800 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02280.hp1 NA18971.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0015a0002c0005 | a0001c0003t0001a0001c0015t0001a0002c0005t0002 | a0001c0003t0001g0016 a0001c0015t0001g0224 a0002c0005t0002g0225 others(1): Show |
4 | 366 | 0.0109 | 8 | c.300 others(25): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100170845 | A | ATTTATTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0107 a0001c0003t0003g0102 a0001c0003t0003g0104 others(2): Show |
5 | 366 | 0.0137 | 8 | c.300 others(25): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100172634 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(34): Show |
a0001a0003a0008others(1): Show | a0001c0003a0003c0004a0003c0006others(3): Show | a0001c0003t0001a0001c0003t0003a0003c0004t0001others(4): Show | a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 others(34): Show |
37 | 366 | 0.1011 | 8 | c.301 others(25): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(1): Show |
19 | 320 | 0.0594 | 8 | c.-58 others(17): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22404947 | T | TGGTGTAT others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03579.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 a0002c0002t0002g0116 a0002c0002t0002g0124 |
3 | 142 | 0.0211 | 8 | c.131 others(27): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG6_chr10_22340496_22422610 | 22413688 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp2 HG01243.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0006 | a0002c0002t0002g0004 a0002c0002t0002g0043 a0002c0002t0002g0044 others(14): Show |
18 | 142 | 0.1268 | 8 | c.146 others(27): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 50981390 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01168.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0003t0007others(5): Show | a0001c0001t0001g0052 a0001c0001t0001g0258 a0001c0001t0001g0291 others(11): Show |
14 | 292 | 0.0480 | 8 | c.323 others(27): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 25/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 50981483 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01928.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0016 | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0063 others(6): Show |
9 | 292 | 0.0308 | 8 | c.323 others(27): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 25/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51012722 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01069.hp2 others(37): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0027 a0001c0001t0002g0013 a0001c0001t0002g0072 others(37): Show |
40 | 292 | 0.1370 | 8 | c.121 others(27): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 9/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51014802 | G | GTATAGAG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01069.hp2 others(37): Show |
a0001a0006a0007 | a0001c0001a0001c0008a0006c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0027 a0001c0001t0002g0013 a0001c0001t0002g0016 others(37): Show |
40 | 292 | 0.1370 | 8 | c.109 others(25): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 8/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51037665 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0010others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0004g0150 others(3): Show |
6 | 292 | 0.0206 | 8 | c.741 others(25): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 5/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053855 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG01106.hp1 others(14): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0032 a0001c0001t0002g0080 a0001c0001t0002g0091 others(14): Show |
17 | 292 | 0.0582 | 8 | c.495 others(25): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51066567 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(71): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(71): Show |
74 | 292 | 0.2534 | 8 | c.425 others(27): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51083543 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0124 a0001c0001t0001g0200 a0001c0001t0001g0202 others(61): Show |
64 | 292 | 0.2192 | 8 | c.304 others(25): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51089620 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0169 a0001c0001t0002g0098 a0001c0001t0002g0099 others(5): Show |
8 | 292 | 0.0274 | 8 | c.304 others(25): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51089661 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18951.hp1 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013 a0001c0001t0003g0015 a0001c0001t0003g0021 others(2): Show |
5 | 292 | 0.0171 | 8 | c.304 others(25): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51105107 | G | GATAAATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01069.hp2 others(37): Show |
a0001a0006a0007 | a0001c0001a0006c0012a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027 a0001c0001t0002g0013 a0001c0001t0002g0016 others(37): Show |
40 | 292 | 0.1370 | 8 | c.303 others(27): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51106102 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0200 a0001c0001t0001g0204 others(14): Show |
17 | 292 | 0.0582 | 8 | c.303 others(27): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPANXD_chrX_141692411_141703739 | 141692776 | T | TCCTCCCT others(1): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 334 | 0.0030 | 8 | c.*46 others(19): Show |
SPANXD | ENSG00000196406.4 | transcript | ENST00000370515.3 | protein_coding | 4634 | chrX | TogoVar | |||||||
SPANXN2_chrX_143706955_143725752 | 143709468 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 336 | 0.0030 | 8 | c.*25 others(19): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 2486 | chrX | TogoVar | |||||||
SPANXN2_chrX_143706955_143725752 | 143713892 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01169.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0018 a0002c0005t0001g0034 a0002c0005t0001g0035 |
4 | 336 | 0.0119 | 8 | c.79- others(23): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 1/1 | chrX | TogoVar | |||||||
SPANXN3_chrX_143503735_143522475 | 143506620 | G | GGCGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(163): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0004c0004t0001a0005c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(45): Show |
166 | 349 | 0.4756 | 8 | c.*21 others(19): Show |
SPANXN3 | ENSG00000189252.4 | transcript | ENST00000370503.2 | protein_coding | 2114 | chrX | TogoVar | |||||||
SPANXN3_chrX_143503735_143522475 | 143506620 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 349 | 0.0029 | 8 | c.*21 others(19): Show |
SPANXN3 | ENSG00000189252.4 | transcript | ENST00000370503.2 | protein_coding | 2114 | chrX | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87474743 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02723.hp1 others(13): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0004a0004c0005others(1): Show | a0002c0001t0001a0002c0001t0006a0003c0004t0001others(5): Show | a0002c0001t0001g0099 a0002c0001t0006g0262 a0003c0004t0001g0097 others(12): Show |
16 | 390 | 0.0410 | 8 | c.196 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 10/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01255.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0126 a0001c0003t0001g0132 a0001c0003t0001g0178 others(4): Show |
7 | 390 | 0.0180 | 8 | c.153 others(27): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87504135 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01070.hp2 others(30): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(5): Show | a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0150 others(30): Show |
33 | 390 | 0.0846 | 8 | c.-11 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87508782 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02615.hp1 others(8): Show |
a0002a0003 | a0002c0001a0003c0004 | a0002c0001t0001a0002c0001t0002a0003c0004t0003others(1): Show | a0002c0001t0001g0099 a0002c0001t0002g0260 a0002c0001t0002g0261 others(8): Show |
11 | 390 | 0.0282 | 8 | c.-11 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87508889 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0003c0004others(3): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(4): Show | a0001c0002t0001g0253 a0002c0001t0001g0068 a0002c0001t0001g0069 others(72): Show |
76 | 390 | 0.1949 | 8 | c.-11 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87511967 | C | CTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02257.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0360 a0003c0004t0002g0361 a0003c0004t0002g0363 others(4): Show |
7 | 390 | 0.0180 | 8 | c.-11 others(27): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87511967 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG02132.hp2 others(17): Show |
a0001a0005a0007 | a0001c0002a0005c0007a0007c0020 | a0001c0002t0001a0001c0002t0002a0005c0007t0001others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0026 a0001c0002t0001g0028 others(14): Show |
20 | 390 | 0.0513 | 8 | c.-11 others(27): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87516390 | C | CTCAAATG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02572.hp1 others(27): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0005others(1): Show | a0001c0003t0002a0002c0001t0002a0004c0005t0001others(2): Show | a0001c0003t0002g0274 a0001c0003t0002g0275 a0001c0003t0002g0276 others(23): Show |
30 | 390 | 0.0769 | 8 | c.-12 others(27): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151680216 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02451.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0005g0265 others(3): Show |
6 | 442 | 0.0136 | 8 | c.-13 others(25): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151685420 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03486.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0016 | a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0016g0311 |
3 | 442 | 0.0068 | 8 | c.-14 others(25): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151685422 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02257.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0012others(3): Show | a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 others(6): Show |
10 | 442 | 0.0226 | 8 | c.-14 others(25): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151685422 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004a0001c0002t0006 | a0001c0001t0003g0047 a0001c0001t0003g0283 a0001c0001t0003g0284 others(2): Show |
6 | 442 | 0.0136 | 8 | c.-14 others(25): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32099956 | T | TAGTGCTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(181): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0075 others(181): Show |
184 | 342 | 0.5380 | 8 | c.682 others(25): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32135118 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 others(5): Show |
8 | 342 | 0.0234 | 8 | c.124 others(27): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32147646 | G | GTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(155): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0075 others(155): Show |
158 | 342 | 0.4620 | 8 | c.172 others(25): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA12_chr3_57055664_57080432 | 57069376 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01891.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0177 others(2): Show |
6 | 440 | 0.0136 | 8 | c.-32 others(27): Show |
SPATA12 | ENSG00000186451.2 | transcript | ENST00000334325.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24239693 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01515.hp2 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0049others(12): Show | a0001c0001t0005g0111 a0001c0002t0001g0126 a0001c0002t0049g0335 others(14): Show |
17 | 356 | 0.0478 | 8 | c.165 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24247478 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(37): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(29): Show | a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0006g0248 others(37): Show |
40 | 356 | 0.1124 | 8 | c.165 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24271041 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01256.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0015a0001c0001t0016a0001c0003t0004others(11): Show | a0001c0001t0015g0250 a0001c0001t0016g0143 a0001c0003t0004g0189 others(12): Show |
15 | 356 | 0.0421 | 8 | c.216 others(29): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |