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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPECC1_chr17_20004359_20324026 | 20099720 | AC | A | intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG01517.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0006a0002c0002others(3): Show | a0001c0003t0007a0001c0003t0021a0001c0003t0048others(21): Show | a0001c0003t0007g0057 a0001c0003t0021g0198 a0001c0003t0048g0056 others(29): Show |
32 | 250 | 0.1280 | -1 | c.147 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20104382 | TA | T | intron_variant | MODIFIER | HG03098.hp2 HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0070a0001c0003t0071a0001c0003t0072 | a0001c0003t0070g0053 a0001c0003t0071g0054 a0001c0003t0072g0042 |
3 | 250 | 0.0120 | -1 | c.148 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20104740 | CA | C | intron_variant | MODIFIER | HG02015.hp1 HG02622.hp1 HG03017.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0027a0001c0001t0080others(3): Show | a0001c0001t0002g0105 a0001c0001t0027g0187 a0001c0001t0080g0199 others(4): Show |
7 | 250 | 0.0280 | -1 | c.148 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20108234 | GA | G | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG03540.hp1 others(4): Show |
a0001 | a0001c0003a0001c0006a0001c0011others(1): Show | a0001c0003t0032a0001c0003t0071a0001c0006t0091others(3): Show | a0001c0003t0032g0156 a0001c0003t0032g0163 a0001c0003t0071g0054 others(4): Show |
7 | 250 | 0.0280 | -1 | c.148 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20111806 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp2 HG02129.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0073others(1): Show | a0001c0001t0002g0105 a0001c0001t0002g0154 a0001c0001t0002g0201 others(3): Show |
6 | 250 | 0.0240 | -1 | c.283 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20111807 | AG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0006a0001c0010others(8): Show | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(71): Show | a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(151): Show |
154 | 250 | 0.6160 | -1 | c.283 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20114612 | AC | A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0022a0001c0006t0044a0001c0006t0045others(1): Show | a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 others(2): Show |
5 | 250 | 0.0200 | -1 | c.283 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20116494 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0006a0002c0002others(6): Show | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(62): Show | a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(142): Show |
145 | 250 | 0.5800 | -1 | c.283 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20116803 | CT | C | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG01515.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0090others(10): Show | a0001c0001t0002g0115 a0001c0001t0004g0172 a0001c0001t0090g0161 others(15): Show |
18 | 250 | 0.0720 | -1 | c.283 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20117703 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01256.hp2 HG01517.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0009t0105others(1): Show | a0001c0001t0004g0113 a0001c0001t0006g0120 a0001c0009t0105g0128 others(2): Show |
5 | 250 | 0.0200 | -1 | c.283 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20121362 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(52): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0002c0002others(1): Show | a0001c0003t0007a0001c0003t0049a0001c0003t0075others(13): Show | a0001c0003t0007g0212 a0001c0003t0049g0011 a0001c0003t0075g0147 others(52): Show |
55 | 250 | 0.2200 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20121370 | TG | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01070.hp1 others(95): Show |
a0001a0003a0004 | a0001c0003a0001c0006a0001c0010others(7): Show | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(55): Show | a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(95): Show |
98 | 250 | 0.3920 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20126512 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0006a0001c0010others(7): Show | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(70): Show | a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(150): Show |
153 | 250 | 0.6120 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20127437 | CT | C | intron_variant | MODIFIER | HG01099.hp2 HG02015.hp2 HG02083.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0081a0001c0003t0060others(3): Show | a0001c0001t0002g0111 a0001c0001t0081g0142 a0001c0003t0060g0195 others(3): Show |
6 | 250 | 0.0240 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20131639 | CT | C | intron_variant | MODIFIER | HG01261.hp1 HG01943.hp2 HG02109.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0093a0001c0003t0048others(10): Show | a0001c0001t0002g0244 a0001c0001t0093g0101 a0001c0003t0048g0056 others(11): Show |
14 | 250 | 0.0560 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20144175 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG01358.hp1 HG01934.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0006a0001c0001t0093a0001c0003t0007others(4): Show | a0001c0001t0006g0118 a0001c0001t0093g0101 a0001c0003t0007g0057 others(5): Show |
8 | 250 | 0.0320 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20147081 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 HG02083.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0005others(1): Show | a0001c0001t0080a0001c0010t0099a0001c0010t0100others(13): Show | a0001c0001t0080g0199 a0001c0010t0099g0173 a0001c0010t0100g0102 others(21): Show |
24 | 250 | 0.0960 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20148543 | GA | G | intron_variant | MODIFIER | HG01081.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0025others(2): Show | a0001c0001t0002g0106 a0001c0001t0004g0007 a0001c0001t0025g0158 others(2): Show |
5 | 250 | 0.0200 | -1 | c.283 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20164169 | AT | A | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0001a0003c0004t0019others(2): Show | a0001c0001t0002g0132 a0002c0002t0001g0040 a0003c0004t0019g0215 others(3): Show |
6 | 250 | 0.0240 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20173928 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(208): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(108): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(208): Show |
211 | 250 | 0.8440 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20174607 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(86): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(38): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(86): Show |
89 | 250 | 0.3560 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20180999 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(201): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(109): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(201): Show |
204 | 250 | 0.8160 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20184105 | CG | C | intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 HG02083.hp1 others(18): Show |
a0004 | a0004c0005a0004c0015 | a0004c0005t0008a0004c0005t0009a0004c0005t0023others(10): Show | a0004c0005t0008g0227 a0004c0005t0008g0228 a0004c0005t0008g0229 others(18): Show |
21 | 250 | 0.0840 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20184181 | CA | C | intron_variant | MODIFIER | HG01256.hp1 HG01496.hp1 HG02976.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0083a0001c0001t0093others(7): Show | a0001c0001t0002g0169 a0001c0001t0002g0200 a0001c0001t0083g0167 others(8): Show |
11 | 250 | 0.0440 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20188256 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(200): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(108): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(200): Show |
203 | 250 | 0.8120 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20191487 | CT | C | intron_variant | MODIFIER | HG01515.hp2 HG02258.hp2 HG02273.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0012a0001c0003t0039others(2): Show | a0001c0001t0002g0115 a0001c0003t0012g0058 a0001c0003t0039g0207 others(2): Show |
5 | 250 | 0.0200 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20194321 | AC | A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(70): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0007others(2): Show | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(38): Show | a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(70): Show |
73 | 250 | 0.2920 | -1 | c.284 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20195560 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(197): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(108): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(197): Show |
200 | 250 | 0.8000 | -1 | c.284 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20199080 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00642.hp2 others(112): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(62): Show | a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 others(112): Show |
115 | 250 | 0.4600 | -1 | c.284 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20199383 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(88): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(52): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(88): Show |
91 | 250 | 0.3640 | -1 | c.284 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20203279 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(143): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(67): Show | a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0111 others(143): Show |
146 | 250 | 0.5840 | -1 | c.284 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20213877 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(201): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(109): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(201): Show |
204 | 250 | 0.8160 | -1 | c.186 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20220558 | GT | G | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(10): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0053a0002c0002t0001a0002c0002t0005others(2): Show | a0001c0003t0053g0189 a0002c0002t0001g0035 a0002c0002t0005g0001 others(10): Show |
13 | 250 | 0.0520 | -1 | c.186 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20227965 | GA | G | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0024a0002c0002t0068others(1): Show | a0002c0002t0005g0001 a0002c0002t0005g0043 a0002c0002t0005g0044 others(9): Show |
12 | 250 | 0.0480 | -1 | c.207 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 5/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20235879 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(77): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(32): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(77): Show |
80 | 250 | 0.3200 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20236655 | CT | C | intron_variant | MODIFIER | HG02080.hp1 HG02083.hp1 HG02109.hp1 others(18): Show |
a0001a0004 | a0001c0003a0004c0005a0004c0015 | a0001c0003t0060a0004c0005t0008a0004c0005t0009others(10): Show | a0001c0003t0060g0195 a0004c0005t0008g0227 a0004c0005t0008g0228 others(18): Show |
21 | 250 | 0.0840 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20237301 | TG | T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0022a0001c0006t0044a0001c0006t0045others(2): Show | a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 others(3): Show |
6 | 250 | 0.0240 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20237315 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(157): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(80): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(157): Show |
160 | 250 | 0.6400 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20239344 | CA | C | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0068 | a0002c0002t0005g0001 a0002c0002t0005g0043 a0002c0002t0005g0044 others(7): Show |
10 | 250 | 0.0400 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20239878 | GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(19): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0045a0001c0006t0047a0002c0002t0001 | a0001c0006t0045g0071 a0001c0006t0047g0067 a0002c0002t0001g0012 others(19): Show |
22 | 250 | 0.0880 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20240060 | AT | A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0006a0001c0003t0055a0001c0003t0060others(6): Show | a0001c0001t0006g0157 a0001c0003t0055g0196 a0001c0003t0060g0195 others(6): Show |
9 | 250 | 0.0360 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20242512 | GC | G | intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 HG02083.hp1 others(18): Show |
a0004 | a0004c0005a0004c0015 | a0004c0005t0008a0004c0005t0009a0004c0005t0023others(10): Show | a0004c0005t0008g0227 a0004c0005t0008g0228 a0004c0005t0008g0229 others(18): Show |
21 | 250 | 0.0840 | -1 | c.235 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20261501 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0006a0001c0001t0027a0001c0003t0049others(17): Show | a0001c0001t0006g0126 a0001c0001t0027g0185 a0001c0003t0049g0011 others(24): Show |
27 | 250 | 0.1080 | -1 | c.294 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20271779 | TG | T | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 |
3 | 250 | 0.0120 | -1 | c.294 others(11): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20272339 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(143): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(78): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(143): Show |
146 | 250 | 0.5840 | -1 | c.294 others(11): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20273464 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(193): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(102): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(193): Show |
196 | 250 | 0.7840 | -1 | c.294 others(11): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20279309 | CT | C | intron_variant | MODIFIER | HG00642.hp2 HG01934.hp2 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 others(3): Show |
6 | 250 | 0.0240 | -1 | c.294 others(11): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20287298 | TC | T | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0036a0001c0003t0039a0001c0003t0040 | a0001c0003t0036g0214 a0001c0003t0039g0207 a0001c0003t0040g0206 |
3 | 250 | 0.0120 | -1 | c.294 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20287423 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(33): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(12): Show | a0001c0003t0007g0205 a0001c0003t0017g0208 a0001c0003t0018g0061 others(33): Show |
36 | 250 | 0.1440 | -1 | c.294 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20288385 | GA | G | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006a0001c0010others(1): Show | a0001c0003t0053a0001c0006t0052a0001c0006t0061others(3): Show | a0001c0003t0053g0189 a0001c0006t0052g0014 a0001c0006t0061g0009 others(3): Show |
6 | 250 | 0.0240 | -1 | c.294 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |