regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 4446755 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01071.hp1 others(18): Show |
a0001a0002a0005others(7): Show | a0001c0005a0001c0006a0001c0017others(18): Show | a0001c0005t0002a0001c0006t0060a0001c0017t0005others(18): Show | a0001c0005t0002g0111a0001c0006t0060g0103a0001c0017t0005g0003others(18): Show | 21 | 126 | 0.1667 | -12 | c.303 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4510545 | ATCTTCCC others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0065 | a0005c0065t0023 | a0005c0065t0023g0050 | 1 | 126 | 0.0079 | -12 | c.303 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4519742 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0109 | 1 | 126 | 0.0079 | -12 | c.303 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4565749 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0039 | a0039c0009 | a0039c0009t0001 | a0039c0009t0001g0002 | 1 | 126 | 0.0079 | -12 | c.302 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4668415 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0018 | a0018c0044 | a0018c0044t0064 | a0018c0044t0064g0085 | 1 | 126 | 0.0079 | -12 | c.86- others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4682955 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
a0001a0002a0007others(2): Show | a0001c0047a0002c0060a0002c0075others(3): Show | a0001c0047t0014a0002c0060t0006a0002c0075t0026others(3): Show | a0001c0047t0014g0024a0002c0060t0006g0094a0002c0075t0026g0051others(3): Show | 6 | 126 | 0.0476 | -12 | c.86- others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4698903 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0083 | 1 | 126 | 0.0079 | -12 | c.86- others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4717559 | TATCTATC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG03540.hp1 |
a0001a0002 | a0001c0094a0002c0015 | a0001c0094t0002a0002c0015t0021 | a0001c0094t0002g0110a0002c0015t0021g0008 | 2 | 126 | 0.0159 | -12 | c.86- others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4742000 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp2 |
a0002a0017 | a0002c0054a0017c0106 | a0002c0054t0079a0017c0106t0012 | a0002c0054t0079g0096a0017c0106t0012g0042 | 2 | 126 | 0.0159 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4753403 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01074.hp2 others(12): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0005a0001c0026others(12): Show | a0001c0002t0002a0001c0005t0002a0001c0026t0006others(12): Show | a0001c0002t0002g0083a0001c0005t0002g0111a0001c0026t0006g0093others(12): Show | 15 | 126 | 0.1191 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4761836 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0035 | a0002c0035t0047 | a0002c0035t0047g0076 | 1 | 126 | 0.0079 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4761890 | CCTACCTA others(5): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0069 | 1 | 126 | 0.0079 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4761900 | TATCTATC others(5): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01934.hp2 HG04228.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0102a0002c0036others(3): Show | a0001c0001t0002a0001c0102t0005a0002c0036t0029others(3): Show | a0001c0001t0002g0125a0001c0102t0005g0034a0002c0036t0029g0009others(3): Show | 6 | 126 | 0.0476 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4764872 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp2 HG06807.hp2 |
a0001a0020 | a0001c0068a0020c0024 | a0001c0068t0015a0020c0024t0077 | a0001c0068t0015g0049a0020c0024t0077g0104 | 2 | 126 | 0.0159 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4791059 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01071.hp2 others(11): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0039a0001c0002t0061a0001c0003t0019others(11): Show | a0001c0001t0039g0017a0001c0002t0061g0069a0001c0003t0019g0107others(11): Show | 14 | 126 | 0.1111 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4795252 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG02258.hp2 |
a0001a0002 | a0001c0115a0002c0091 | a0001c0115t0042a0002c0091t0002 | a0001c0115t0042g0055a0002c0091t0002g0114 | 2 | 126 | 0.0159 | -12 | c.86- others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4903009 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(34): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0004a0001c0006others(34): Show | a0001c0003t0019a0001c0004t0020a0001c0006t0060others(34): Show | a0001c0003t0019g0107a0001c0004t0020g0086a0001c0006t0060g0103others(34): Show | 37 | 126 | 0.2937 | -12 | c.85+ others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33557617 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(6): Show |
a0001a0003a0006others(2): Show | a0001c0026a0001c0045a0003c0004others(5): Show | a0001c0026t0003a0001c0045t0013a0003c0004t0003others(5): Show | a0001c0026t0003g0035a0001c0045t0013g0027a0003c0004t0003g0053others(6): Show | 9 | 66 | 0.1364 | -12 | c.874 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 55/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33643889 | TGAAGGAA others(5): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0031 | a0031c0007 | a0031c0007t0002 | a0031c0007t0002g0002 | 1 | 66 | 0.0152 | -12 | c.477 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 29/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33691106 | AAGGCCCT others(5): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0027 | a0002c0027t0003 | a0002c0027t0003g0045 | 1 | 66 | 0.0152 | -12 | c.405 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 25/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33707689 | GCGCGCGC others(5): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG02055.hp2 HG03139.hp1 |
a0003a0006 | a0003c0004a0003c0050a0006c0016 | a0003c0004t0003a0003c0050t0004a0006c0016t0004 | a0003c0004t0003g0054a0003c0050t0004g0037a0006c0016t0004g0034 | 3 | 66 | 0.0455 | -12 | c.357 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33707691 | GCGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0021 | a0021c0038 | a0021c0038t0002 | a0021c0038t0002g0007 | 1 | 66 | 0.0152 | -12 | c.357 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33768536 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03139.hp2 others(1): Show |
a0004a0008a0014others(1): Show | a0004c0031a0008c0022a0014c0036others(1): Show | a0004c0031t0004a0008c0022t0001a0014c0036t0002others(1): Show | a0004c0031t0004g0005a0008c0022t0001g0060a0014c0036t0002g0044others(1): Show | 4 | 66 | 0.0606 | -12 | c.184 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 13/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33783431 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG03017.hp2 others(1): Show |
a0001a0003a0013others(1): Show | a0001c0047a0003c0003a0013c0041others(1): Show | a0001c0047t0001a0003c0003t0002a0013c0041t0005others(1): Show | a0001c0047t0001g0031a0003c0003t0002g0009a0013c0041t0005g0011others(1): Show | 4 | 66 | 0.0606 | -12 | c.166 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 12/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33790661 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01069.hp1 others(11): Show |
a0001a0002a0003others(6): Show | a0001c0040a0001c0044a0001c0045others(11): Show | a0001c0040t0001a0001c0044t0002a0001c0045t0013others(11): Show | a0001c0040t0001g0010a0001c0044t0002g0026a0001c0045t0013g0027others(11): Show | 14 | 66 | 0.2121 | -12 | c.155 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33790801 | ATATCTAT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG03139.hp2 |
a0001a0004a0006 | a0001c0001a0004c0031a0006c0016 | a0001c0001t0003a0004c0031t0004a0006c0016t0004 | a0001c0001t0003g0063a0004c0031t0004g0005a0006c0016t0004g0034 | 3 | 66 | 0.0455 | -12 | c.155 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33862343 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03471.hp2 NA19030.hp1 |
a0014a0022a0024 | a0014c0036a0022c0019a0024c0014 | a0014c0036t0002a0022c0019t0011a0024c0014t0002 | a0014c0036t0002g0044a0022c0019t0011g0017a0024c0014t0002g0059 | 3 | 66 | 0.0455 | -12 | c.921 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33950383 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0006 | a0006c0016 | a0006c0016t0004 | a0006c0016t0004g0034 | 1 | 66 | 0.0152 | -12 | c.518 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33984860 | AAGGCAGG others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0032 | a0004c0032t0001 | a0004c0032t0001g0022 | 1 | 66 | 0.0152 | -12 | c.517 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 33989013 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG03017.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0003c0003others(2): Show | a0001c0001t0003a0002c0005t0003a0003c0003t0002others(2): Show | a0001c0001t0003g0063a0002c0005t0003g0056a0003c0003t0002g0009others(2): Show | 5 | 66 | 0.0758 | -12 | c.517 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34052003 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0052 | 1 | 66 | 0.0152 | -12 | c.405 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34076928 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0048 | a0003c0048t0006 | a0003c0048t0006g0032 | 1 | 66 | 0.0152 | -12 | c.404 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34080921 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp1 NA18998.hp1 |
a0009a0010 | a0009c0055a0010c0056 | a0009c0055t0001a0010c0056t0001 | a0009c0055t0001g0049a0010c0056t0001g0047 | 2 | 66 | 0.0303 | -12 | c.404 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34087612 | TATAATAA others(5): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0009 | a0009c0055 | a0009c0055t0001 | a0009c0055t0001g0049 | 1 | 66 | 0.0152 | -12 | c.404 others(29): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34111982 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp2 others(25): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0040a0001c0042others(21): Show | a0001c0001t0001a0001c0040t0001a0001c0042t0005others(24): Show | a0001c0001t0001g0033a0001c0040t0001g0010a0001c0042t0005g0051others(25): Show | 28 | 66 | 0.4242 | -12 | c.188 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34135242 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0018 | a0018c0029 | a0018c0029t0007 | a0018c0029t0007g0025 | 1 | 66 | 0.0152 | -12 | c.187 others(31): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | ||||||
CSMD2_chr1_33508998_34170230 | 34169624 | AGAGAGAG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0009 | 1 | 66 | 0.0152 | -12 | c.-45 others(23): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 4395 | chr1 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112240439 | ATTGCCTC others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01074.hp2 others(7): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0024a0002c0003others(4): Show | a0001c0001t0002a0001c0024t0002a0002c0003t0002others(4): Show | a0001c0001t0002g0014a0001c0001t0002g0022a0001c0001t0002g0025others(7): Show | 10 | 80 | 0.1250 | -12 | c.104 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 66/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112252679 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 80 | 0.0125 | -12 | c.101 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 63/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112270343 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0077 | 1 | 80 | 0.0125 | -12 | c.950 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112279010 | AAAAAACA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01255.hp2 others(7): Show |
a0001a0002a0012others(1): Show | a0001c0007a0001c0016a0002c0005others(3): Show | a0001c0007t0001a0001c0016t0001a0002c0005t0001others(3): Show | a0001c0007t0001g0012a0001c0007t0001g0043a0001c0016t0001g0073others(7): Show | 10 | 80 | 0.1250 | -12 | c.950 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112279013 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02280.hp1 others(1): Show |
a0001a0002a0006 | a0001c0019a0002c0028a0006c0008 | a0001c0019t0005a0002c0028t0005a0006c0008t0005 | a0001c0019t0005g0065a0002c0028t0005g0078a0006c0008t0005g0004others(1): Show | 4 | 80 | 0.0500 | -12 | c.950 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112361572 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02976.hp2 NA18990.hp1 |
a0001a0002a0014 | a0001c0016a0002c0003a0014c0030 | a0001c0016t0001a0002c0003t0006a0014c0030t0001 | a0001c0016t0001g0073a0002c0003t0006g0009a0014c0030t0001g0030 | 3 | 80 | 0.0375 | -12 | c.613 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112370023 | GGAAGAAG others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00673.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0015a0003c0002others(1): Show | a0001c0001t0001a0001c0015t0001a0003c0002t0001others(2): Show | a0001c0001t0001g0046a0001c0015t0001g0026a0003c0002t0001g0008others(9): Show | 12 | 80 | 0.1500 | -12 | c.613 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112455591 | GTAAATAA others(5): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG02055.hp2 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0007a0001c0023others(6): Show | a0001c0001t0007a0001c0007t0001a0001c0023t0001others(6): Show | a0001c0001t0007g0041a0001c0007t0001g0043a0001c0023t0001g0056others(6): Show | 9 | 80 | 0.1125 | -12 | c.539 others(33): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112494494 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01175.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0019others(4): Show | a0001c0001t0004a0001c0007t0001a0001c0019t0005others(4): Show | a0001c0001t0004g0015a0001c0007t0001g0012a0001c0019t0005g0065others(6): Show | 9 | 80 | 0.1125 | -12 | c.508 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 30/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112630942 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01081.hp1 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0016a0001c0001t0003g0010a0001c0001t0004g0007others(17): Show | 20 | 80 | 0.2500 | -12 | c.371 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112636538 | TTCTATCT others(5): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 80 | 0.0125 | -12 | c.371 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112692911 | TTATATCT others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0006 | 1 | 80 | 0.0125 | -12 | c.197 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112692913 | ATATCTAT others(5): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG02055.hp1 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0006a0001c0019others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0025a0001c0001t0003g0023a0001c0001t0004g0007others(6): Show | 9 | 80 | 0.1125 | -12 | c.197 others(31): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar |