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 | 3308732 | GTTT | G | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01081.hp2 others(23): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0017others(23): Show | a0001c0001t0002a0001c0002t0028a0001c0017t0005others(23): Show | a0001c0001t0002g0125a0001c0002t0028g0005a0001c0017t0005g0003others(23): Show | 26 | 126 | 0.2064 | -3 | c.363 others(20): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3313031 | TAGG | T | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 |
a0010a0033 | a0010c0112a0033c0042 | a0010c0112t0081a0033c0042t0004 | a0010c0112t0081g0090a0033c0042t0004g0004 | 2 | 126 | 0.0159 | -3 | c.363 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3323558 | TCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(14): Show |
a0001a0002a0004others(5): Show | a0001c0007a0001c0040a0001c0061others(13): Show | a0001c0007t0001a0001c0007t0032a0001c0040t0019others(14): Show | a0001c0007t0001g0035a0001c0007t0032g0033a0001c0040t0019g0123others(14): Show | 17 | 126 | 0.1349 | -3 | c.363 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3334805 | GTTC | G | intron_variant | MODIFIER | HG03130.hp1 NA20129.hp2 |
a0001 | a0001c0026a0001c0111 | a0001c0026t0006a0001c0111t0045 | a0001c0026t0006g0093a0001c0111t0045g0063 | 2 | 126 | 0.0159 | -3 | c.363 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3350033 | TATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp2 others(3): Show |
a0001a0003a0011others(1): Show | a0001c0045a0001c0046a0001c0115others(3): Show | a0001c0045t0012a0001c0046t0073a0001c0115t0042others(3): Show | a0001c0045t0012g0010a0001c0046t0073g0091a0001c0115t0042g0055others(3): Show | 6 | 126 | 0.0476 | -3 | c.330 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 21/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3350052 | TATA | T | intron_variant | MODIFIER | HG02280.hp2 HG03098.hp1 |
a0001a0003 | a0001c0002a0003c0034 | a0001c0002t0028a0003c0034t0030 | a0001c0002t0028g0005a0003c0034t0030g0038 | 2 | 126 | 0.0159 | -3 | c.330 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 21/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3350077 | TATA | T | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
a0002a0020a0038 | a0002c0074a0002c0084a0020c0024others(1): Show | a0002c0074t0041a0002c0084t0018a0020c0024t0077others(1): Show | a0002c0074t0041g0031a0002c0084t0018g0087a0020c0024t0077g0104others(1): Show | 4 | 126 | 0.0318 | -3 | c.330 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 21/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3382606 | TATA | T | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG02056.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0109others(4): Show | a0001c0002t0002a0001c0002t0028a0001c0002t0061others(6): Show | a0001c0002t0002g0083a0001c0002t0028g0005a0001c0002t0061g0069others(6): Show | 9 | 126 | 0.0714 | -3 | c.278 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 18/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3385076 | ATAT | A | intron_variant | MODIFIER | HG03195.hp2 HG03209.hp1 HG03540.hp1 others(1): Show |
a0001a0002a0013others(1): Show | a0001c0020a0002c0015a0013c0027others(1): Show | a0001c0020t0016a0002c0015t0021a0013c0027t0003others(1): Show | a0001c0020t0016g0065a0002c0015t0021g0008a0013c0027t0003g0099others(1): Show | 4 | 126 | 0.0318 | -3 | c.278 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 18/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3394021 | TATA | T | intron_variant | MODIFIER | HG01123.hp2 HG03710.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0003a0001c0006a0001c0093others(1): Show | a0001c0003t0008a0001c0006t0060a0001c0093t0009others(1): Show | a0001c0003t0008g0053a0001c0006t0060g0103a0001c0093t0009g0007others(1): Show | 4 | 126 | 0.0318 | -3 | c.259 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3404334 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01243.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0001c0108others(7): Show | a0001c0002t0028a0001c0005t0007a0001c0108t0054others(7): Show | a0001c0002t0028g0005a0001c0005t0007g0070a0001c0108t0054g0074others(7): Show | 10 | 126 | 0.0794 | -3 | c.226 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 15/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439150 | AAAC | A | intron_variant | MODIFIER | HG01071.hp2 HG02055.hp2 HG03098.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0047a0002c0074a0003c0057others(2): Show | a0001c0047t0014a0002c0074t0041a0003c0057t0080others(2): Show | a0001c0047t0014g0024a0002c0074t0041g0031a0003c0057t0080g0075others(2): Show | 5 | 126 | 0.0397 | -3 | c.156 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3476912 | CAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01243.hp1 others(47): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0017others(45): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0028others(47): Show | a0001c0001t0002g0125a0001c0001t0039g0017a0001c0002t0028g0005others(47): Show | 50 | 126 | 0.3968 | -3 | c.144 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3488086 | GTAT | G | intron_variant | MODIFIER | HG00423.hp2 HG02074.hp1 HG02074.hp2 others(2): Show |
a0001a0002 | a0001c0007a0001c0079a0002c0077others(2): Show | a0001c0007t0032a0001c0079t0072a0002c0077t0001others(2): Show | a0001c0007t0032g0033a0001c0079t0072g0113a0002c0077t0001g0016others(2): Show | 5 | 126 | 0.0397 | -3 | c.144 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3493594 | GAGA | G | intron_variant | MODIFIER | HG02280.hp2 HG03017.hp1 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0085a0003c0034 | a0001c0002t0028a0001c0002t0061a0001c0085t0020others(1): Show | a0001c0002t0028g0005a0001c0002t0061g0069a0001c0085t0020g0060others(1): Show | 4 | 126 | 0.0318 | -3 | c.144 others(18): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3498085 | TTTC | T | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG03017.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0085a0003c0034others(1): Show | a0001c0002t0028a0001c0002t0061a0001c0085t0020others(2): Show | a0001c0002t0028g0005a0001c0002t0061g0069a0001c0085t0020g0060others(2): Show | 5 | 126 | 0.0397 | -3 | c.134 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3523278 | TAAG | T | intron_variant | MODIFIER | HG03139.hp1 NA18906.hp2 |
a0002a0008 | a0002c0074a0008c0067 | a0002c0074t0041a0008c0067t0059 | a0002c0074t0041g0031a0008c0067t0059g0079 | 2 | 126 | 0.0159 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3524887 | TTGG | T | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02615.hp1 others(1): Show |
a0002a0007a0009others(1): Show | a0002c0070a0007c0029a0009c0113others(1): Show | a0002c0070t0046a0007c0029t0011a0009c0113t0011others(1): Show | a0002c0070t0046g0092a0007c0029t0011g0054a0009c0113t0011g0043others(1): Show | 4 | 126 | 0.0318 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3539763 | TAAA | T | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02055.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0050a0002c0022others(4): Show | a0001c0004t0020a0001c0004t0063a0001c0050t0053others(5): Show | a0001c0004t0020g0086a0001c0004t0063g0095a0001c0050t0053g0120others(5): Show | 8 | 126 | 0.0635 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3542945 | ACCC | A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02055.hp2 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0026a0001c0040others(14): Show | a0001c0004t0020a0001c0004t0063a0001c0026t0006others(15): Show | a0001c0004t0020g0086a0001c0004t0063g0095a0001c0026t0006g0093others(15): Show | 18 | 126 | 0.1429 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3557498 | CATT | C | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp1 HG03195.hp2 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0026a0002c0051a0006c0116others(1): Show | a0001c0026t0006a0002c0051t0006a0006c0116t0004others(1): Show | a0001c0026t0006g0093a0002c0051t0006g0081a0006c0116t0004g0039others(1): Show | 4 | 126 | 0.0318 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3558055 | CTGA | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02451.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0033others(8): Show | a0001c0002t0028a0001c0004t0020a0001c0033t0003others(8): Show | a0001c0002t0028g0005a0001c0004t0020g0086a0001c0033t0003g0059others(8): Show | 11 | 126 | 0.0873 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3558322 | AATG | A | intron_variant | MODIFIER | HG02683.hp1 HG03669.hp1 |
a0001 | a0001c0006a0001c0021 | a0001c0006t0002a0001c0021t0005 | a0001c0006t0002g0109a0001c0021t0005g0012 | 2 | 126 | 0.0159 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3559493 | TGAA | T | intron_variant | MODIFIER | HG01255.hp1 HG02129.hp1 HG02129.hp2 others(9): Show |
a0001a0002a0015others(2): Show | a0001c0007a0001c0020a0001c0025others(9): Show | a0001c0007t0032a0001c0020t0016a0001c0025t0003others(9): Show | a0001c0007t0032g0033a0001c0020t0016g0065a0001c0025t0003g0077others(9): Show | 12 | 126 | 0.0952 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3562742 | AAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01074.hp1 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0005a0001c0021others(8): Show | a0001c0002t0061a0001c0005t0002a0001c0005t0007others(9): Show | a0001c0002t0061g0069a0001c0005t0002g0111a0001c0005t0007g0070others(9): Show | 12 | 126 | 0.0952 | -3 | c.134 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3576268 | AAAT | A | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp2 HG01261.hp2 others(11): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0045a0001c0049others(11): Show | a0001c0002t0028a0001c0045t0012a0001c0049t0002others(11): Show | a0001c0002t0028g0005a0001c0045t0012g0010a0001c0049t0002g0071others(11): Show | 14 | 126 | 0.1111 | -3 | c.122 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 9/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3577239 | GCAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00735.hp2 others(30): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0006others(30): Show | a0001c0001t0039a0001c0004t0020a0001c0006t0002others(30): Show | a0001c0001t0039g0017a0001c0004t0020g0086a0001c0006t0002g0109others(30): Show | 33 | 126 | 0.2619 | -3 | c.122 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 9/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3606713 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(21): Show |
a0001a0002a0025others(2): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0002a0001c0002t0061a0001c0003t0013others(21): Show | a0001c0001t0002g0102a0001c0002t0061g0069a0001c0003t0013g0026others(21): Show | 24 | 126 | 0.1905 | -3 | c.109 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3609738 | TAAA | T | intron_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG02486.hp1 others(7): Show |
a0001a0002a0006others(5): Show | a0001c0021a0001c0108a0001c0111others(7): Show | a0001c0021t0005a0001c0108t0054a0001c0111t0045others(7): Show | a0001c0021t0005g0012a0001c0108t0054g0074a0001c0111t0045g0063others(7): Show | 10 | 126 | 0.0794 | -3 | c.109 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3612244 | CAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp1 HG02683.hp1 |
a0001a0037 | a0001c0021a0001c0108a0037c0101 | a0001c0021t0005a0001c0108t0054a0037c0101t0008 | a0001c0021t0005g0012a0001c0108t0054g0074a0037c0101t0008g0023 | 3 | 126 | 0.0238 | -3 | c.109 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3612252 | CACA | C | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp1 HG02683.hp1 |
a0001a0037 | a0001c0021a0001c0108a0037c0101 | a0001c0021t0005a0001c0108t0054a0037c0101t0008 | a0001c0021t0005g0012a0001c0108t0054g0074a0037c0101t0008g0023 | 3 | 126 | 0.0238 | -3 | c.109 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3614921 | GGAA | G | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02559.hp2 others(7): Show |
a0001a0002a0034others(1): Show | a0001c0001a0001c0043a0001c0046others(7): Show | a0001c0001t0002a0001c0043t0031a0001c0046t0073others(7): Show | a0001c0001t0002g0125a0001c0043t0031g0044a0001c0046t0073g0091others(7): Show | 10 | 126 | 0.0794 | -3 | c.109 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3637621 | ACTG | A | intron_variant | MODIFIER | HG00423.hp1 HG02074.hp2 NA18971.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0059a0001c0102a0002c0091others(3): Show | a0001c0059t0001a0001c0102t0005a0002c0091t0002others(3): Show | a0001c0059t0001g0036a0001c0102t0005g0034a0002c0091t0002g0114others(3): Show | 6 | 126 | 0.0476 | -3 | c.101 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3643700 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01071.hp2 others(30): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0002a0001c0002t0061a0001c0003t0013others(30): Show | a0001c0001t0002g0102a0001c0002t0061g0069a0001c0003t0013g0026others(30): Show | 33 | 126 | 0.2619 | -3 | c.101 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3729691 | CTCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(56): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0004others(55): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0028others(56): Show | a0001c0001t0002g0125a0001c0001t0039g0017a0001c0002t0028g0005others(56): Show | 59 | 126 | 0.4683 | -3 | c.932 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3764739 | CTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01261.hp2 others(15): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0003a0001c0068others(15): Show | a0001c0001t0002a0001c0003t0019a0001c0068t0015others(15): Show | a0001c0001t0002g0102a0001c0003t0019g0107a0001c0068t0015g0049others(15): Show | 18 | 126 | 0.1429 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3769513 | TATA | T | intron_variant | MODIFIER | HG02056.hp2 HG02129.hp1 |
a0001 | a0001c0071a0001c0103 | a0001c0071t0069a0001c0103t0033 | a0001c0071t0069g0115a0001c0103t0033g0028 | 2 | 126 | 0.0159 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3789442 | GTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG02055.hp1 others(26): Show |
a0001a0002a0006others(10): Show | a0001c0002a0001c0003a0001c0004others(26): Show | a0001c0002t0002a0001c0003t0013a0001c0004t0020others(26): Show | a0001c0002t0002g0083a0001c0003t0013g0026a0001c0004t0020g0086others(26): Show | 29 | 126 | 0.2302 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3795391 | TAGA | T | intron_variant | MODIFIER | HG02572.hp2 HG03017.hp2 NA19060.hp2 |
a0002a0007a0036 | a0002c0048a0007c0029a0036c0100 | a0002c0048t0013a0007c0029t0011a0036c0100t0017 | a0002c0048t0013g0015a0007c0029t0011g0054a0036c0100t0017g0121 | 3 | 126 | 0.0238 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3813244 | CATT | C | intron_variant | MODIFIER | HG00423.hp2 NA18971.hp1 NA18995.hp2 |
a0002a0039 | a0002c0077a0002c0089a0039c0009 | a0002c0077t0001a0002c0089t0001a0039c0009t0001 | a0002c0077t0001g0016a0002c0089t0001g0037a0039c0009t0001g0002 | 3 | 126 | 0.0238 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3838409 | GAGA | G | intron_variant | MODIFIER | HG02615.hp1 HG03225.hp2 HG06807.hp1 others(2): Show |
a0001a0002a0012others(1): Show | a0001c0025a0001c0068a0002c0035others(2): Show | a0001c0025t0003a0001c0068t0015a0002c0035t0047others(2): Show | a0001c0025t0003g0077a0001c0068t0015g0049a0002c0035t0047g0076others(2): Show | 5 | 126 | 0.0397 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3838828 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(54): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0028others(54): Show | a0001c0001t0002g0125a0001c0002t0002g0083a0001c0002t0028g0005others(54): Show | 57 | 126 | 0.4524 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3838997 | TATA | T | intron_variant | MODIFIER | HG00438.hp2 HG01255.hp1 HG01934.hp2 others(8): Show |
a0001a0002a0004 | a0001c0005a0001c0007a0001c0071others(8): Show | a0001c0005t0002a0001c0007t0001a0001c0071t0069others(8): Show | a0001c0005t0002g0111a0001c0007t0001g0035a0001c0071t0069g0115others(8): Show | 11 | 126 | 0.0873 | -3 | c.819 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3892534 | AAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0003others(104): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(113): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(114): Show | 117 | 126 | 0.9286 | -3 | c.818 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3921111 | AAAG | A | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02922.hp2 others(1): Show |
a0001a0003a0005others(1): Show | a0001c0111a0003c0034a0005c0107others(1): Show | a0001c0111t0045a0003c0034t0030a0005c0107t0068others(1): Show | a0001c0111t0045g0063a0003c0034t0030g0038a0005c0107t0068g0073others(1): Show | 4 | 126 | 0.0318 | -3 | c.818 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3945178 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(39): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0004others(39): Show | a0001c0001t0039a0001c0002t0028a0001c0004t0020others(39): Show | a0001c0001t0039g0017a0001c0002t0028g0005a0001c0004t0020g0086others(39): Show | 42 | 126 | 0.3333 | -3 | c.818 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3950743 | CTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01071.hp2 others(50): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(50): Show | a0001c0001t0002a0001c0002t0028a0001c0003t0008others(50): Show | a0001c0001t0002g0125a0001c0002t0028g0005a0001c0003t0008g0053others(50): Show | 53 | 126 | 0.4206 | -3 | c.818 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3952989 | GAAA | G | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG02074.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0019others(12): Show | a0001c0004t0020a0001c0006t0002a0001c0019t0078others(12): Show | a0001c0004t0020g0086a0001c0006t0002g0109a0001c0019t0078g0105others(12): Show | 15 | 126 | 0.1191 | -3 | c.818 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3958313 | ACTC | A | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02965.hp1 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0025a0001c0114a0002c0054others(3): Show | a0001c0025t0003a0001c0114t0003a0002c0054t0079others(3): Show | a0001c0025t0003g0077a0001c0114t0003g0119a0002c0054t0079g0096others(3): Show | 6 | 126 | 0.0476 | -3 | c.818 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3962187 | ATAC | A | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02723.hp1 |
a0003a0007a0024 | a0003c0034a0007c0029a0024c0038 | a0003c0034t0030a0007c0029t0011a0024c0038t0075 | a0003c0034t0030g0038a0007c0029t0011g0054a0024c0038t0075g0067 | 3 | 126 | 0.0238 | -3 | c.818 others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar |