| geneid | 472 |
|---|---|
| ensemblid | ENSG00000149311.21 |
| hgncid | 795 |
| symbol | ATM |
| name | ATM serine/threonine kinase |
| refseq_nuc | NM_000051.4 |
| refseq_prot | NP_000042.3 |
| ensembl_nuc | ENST00000675843.1 |
| ensembl_prot | ENSP00000501606.1 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 108223067 |
| end | 108369102 |
| strand | + |
| ver | v1.2 |
| region | chr11:108223067-108369102 |
| region5000 | chr11:108218067-108374102 |
| regionname0 | ATM_chr11_108223067_108369102 |
| regionname5000 | ATM_chr11_108218067_108374102 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:108279589
|
A | G | 0.0197 | missense_variant | MODERATE | HG02451.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0009 | a0006c0007t0001g0150a0006c0007t0001g0156a0006c0007t0001g0157others(3): Show | 6 | 304 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 23/63 | c.3383A>G | p.Gln1128Arg | 3533/12915 | 3383/9171 | 1128/3056 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:108223106
|
G | A | 0.4276 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(127): Show | 130 | 304 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 1/63 | c.-111G>A | 4519 | |||||
|
chr11:108366029
|
CA | C | 0.4572 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(136): Show | 139 | 304 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 63/63 | c.*540delA | 540 | INFO_REALIGN_3_PRIME | ||||
|
chr11:108366056
|
G | T | 0.5066 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(151): Show | 154 | 304 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 63/63 | c.*548G>T | 548 | |||||
|
chr11:108367112
|
C | T | 0.5066 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(151): Show | 154 | 304 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 63/63 | c.*1604C>T | 1604 | |||||
|
chr11:108368901
|
G | T | 0.5197 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(155): Show | 158 | 304 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 63/63 | c.*3393G>T | 3393 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:108224493
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 1/62 | c.-31+1307A>G | ||||||
|
chr11:108225414
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 1/62 | c.-30-2181A>G | ||||||
|
chr11:108226606
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(156): Show | 159 | 304 | 0.5230 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 1/62 | c.-30-989A>G | ||||||
|
chr11:108229378
|
G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(150): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(150): Show | 153 | 304 | 0.5033 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.331+69dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108230007
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(66): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(298): Show | 301 | 304 | 0.9901 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.331+684A>T | ||||||
|
chr11:108230695
|
A | AG | intron_variant | MODIFIER | HG02132.hp1 HG02451.hp1 HG02723.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001a0006c0007t0009 | a0001c0001t0001g0153a0001c0001t0001g0158a0001c0001t0001g0159others(8): Show | 11 | 304 | 0.0362 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.331+1373dupG | INFO_REALIGN_3_PRIME | |||||
|
chr11:108230765
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0012others(17): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(195): Show | 198 | 304 | 0.6513 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.331+1442A>G | ||||||
|
chr11:108231192
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.331+1869C>T | ||||||
|
chr11:108231335
|
G | A | intron_variant | MODIFIER | HG02132.hp1 HG02451.hp1 HG02723.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001a0006c0007t0009 | a0001c0001t0001g0153a0001c0001t0001g0158a0001c0001t0001g0159others(8): Show | 11 | 304 | 0.0362 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.331+2012G>A | ||||||
|
chr11:108231696
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0008a0001c0020others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(133): Show | 136 | 304 | 0.4474 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.331+2396dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:108232527
|
CTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(120): Show | 123 | 304 | 0.4046 | -4 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.332-3116_332-3113delTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108232584
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(66): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(300): Show | 303 | 304 | 0.9967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.332-3086A>G | ||||||
|
chr11:108233798
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0012others(16): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(193): Show | 196 | 304 | 0.6447 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.332-1872A>G | ||||||
|
chr11:108234840
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0020others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(158): Show | 161 | 304 | 0.5296 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.332-819dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:108235201
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(126): Show | 129 | 304 | 0.4243 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.332-469T>C | ||||||
|
chr11:108235512
|
T | A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0009 | a0006c0007t0001g0150a0006c0007t0001g0156a0006c0007t0001g0157others(3): Show | 6 | 304 | 0.0197 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | c.332-158T>A | ||||||
|
chr11:108236055
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0008a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(49): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(207): Show | 210 | 304 | 0.6908 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.496+221C>T | ||||||
|
chr11:108236282
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0008a0001c0020others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(156): Show | 159 | 304 | 0.5230 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.496+448G>A | ||||||
|
chr11:108236534
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(150): Show | 153 | 304 | 0.5033 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.496+716dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:108236770
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.496+936T>G | ||||||
|
chr11:108236850
|
T | C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0009 | a0006c0007t0001g0150a0006c0007t0001g0156a0006c0007t0001g0157others(3): Show | 6 | 304 | 0.0197 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.496+1016T>C | ||||||
|
chr11:108236933
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0012others(17): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(195): Show | 198 | 304 | 0.6513 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.496+1099G>A | ||||||
|
chr11:108237899
|
GTTTTTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01081.hp1 others(39): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0034others(7): Show | a0001c0001t0001g0153a0001c0001t0001g0158a0001c0001t0001g0159others(39): Show | 42 | 304 | 0.1382 | -6 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.496+2085_496+2090delTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108240702
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0012others(16): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(193): Show | 196 | 304 | 0.6447 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.497-3249delA | INFO_REALIGN_3_PRIME | |||||
|
chr11:108241738
|
CTTTCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(86): Show |
a0001a0006a0010others(3): Show | a0001c0001a0001c0024a0001c0025others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(86): Show | 89 | 304 | 0.2928 | -5 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.497-2211_497-2207delCTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108242251
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(65): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0153others(65): Show | 68 | 304 | 0.2237 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.497-1702G>T | ||||||
|
chr11:108242418
|
CATT | C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0009 | a0006c0007t0001g0150a0006c0007t0001g0156a0006c0007t0001g0157others(3): Show | 6 | 304 | 0.0197 | -3 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.497-1532_497-1530delTAT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108242604
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0012others(16): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(193): Show | 196 | 304 | 0.6447 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | c.497-1349C>G | ||||||
|
chr11:108244633
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(66): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(297): Show | 300 | 304 | 0.9868 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 6/62 | c.663-144delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108245973
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0008a0001c0010others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(53): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(216): Show | 219 | 304 | 0.7204 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 7/62 | c.901+947T>C | ||||||
|
chr11:108246608
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0020a0001c0024others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(151): Show | 154 | 304 | 0.5066 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 7/62 | c.902-356C>T | ||||||
|
chr11:108247507
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 8/62 | c.1065+380T>A | ||||||
|
chr11:108247752
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(131): Show | 134 | 304 | 0.4408 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 8/62 | c.1065+625C>A | ||||||
|
chr11:108248321
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0012others(16): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(193): Show | 196 | 304 | 0.6447 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 8/62 | c.1066-612C>A | ||||||
|
chr11:108248639
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0020others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(159): Show | 162 | 304 | 0.5329 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 8/62 | c.1066-294A>G | ||||||
|
chr11:108249712
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0012others(17): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(195): Show | 198 | 304 | 0.6513 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | c.1235+610G>A | ||||||
|
chr11:108250141
|
AAT | A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(73): Show |
a0001a0002a0006others(11): Show | a0001c0001a0001c0008a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(24): Show | a0001c0001t0001g0164a0001c0001t0002g0021a0001c0001t0002g0022others(73): Show | 76 | 304 | 0.2500 | -2 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | c.1236-537_1236-536delAT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108250683
|
C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | c.1236-3dupT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108252462
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0020others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(159): Show | 162 | 304 | 0.5329 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 11/62 | c.1803-355C>A | ||||||
|
chr11:108253572
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(131): Show | 134 | 304 | 0.4408 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 12/62 | c.1899-242G>A | ||||||
|
chr11:108254744
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0020a0001c0024others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 131 | 304 | 0.4309 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 13/62 | c.2124+705C>G | ||||||
|
chr11:108255422
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0020a0001c0024others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(153): Show | 156 | 304 | 0.5132 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 13/62 | c.2125-772delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108256561
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(66): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(300): Show | 303 | 304 | 0.9967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 14/62 | c.2250+221T>C | ||||||
|
chr11:108258930
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0020a0001c0024others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 131 | 304 | 0.4309 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 15/62 | c.2377-56A>G | ||||||
|
chr11:108260030
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0020a0001c0024others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(127): Show | 130 | 304 | 0.4276 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+977delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108260498
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0012others(18): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(196): Show | 199 | 304 | 0.6546 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+1423T>C | ||||||
|
chr11:108260919
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0008a0001c0012others(21): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(200): Show | 203 | 304 | 0.6678 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+1844T>G | ||||||
|
chr11:108261049
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0020a0001c0024others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(132): Show | 135 | 304 | 0.4441 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+1974C>T | ||||||
|
chr11:108261070
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0012others(18): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(196): Show | 199 | 304 | 0.6546 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+1995T>C | ||||||
|
chr11:108261718
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+2643G>T | ||||||
|
chr11:108262507
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0020a0001c0024others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(132): Show | 135 | 304 | 0.4441 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+3432C>T | ||||||
|
chr11:108262920
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(162): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0008a0001c0020others(14): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(162): Show | 165 | 304 | 0.5428 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2466+3845A>G | ||||||
|
chr11:108263969
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0008a0001c0010others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(53): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(212): Show | 215 | 304 | 0.7072 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2467-3202A>T | ||||||
|
chr11:108264886
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(153): Show | 156 | 304 | 0.5132 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2467-2285C>G | ||||||
|
chr11:108265245
|
G | A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02896.hp1 others(4): Show |
a0006a0017 | a0006c0007a0017c0030 | a0006c0007t0001a0006c0007t0009a0017c0030t0002 | a0006c0007t0001g0150a0006c0007t0001g0156a0006c0007t0001g0157others(4): Show | 7 | 304 | 0.0230 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2467-1926G>A | ||||||
|
chr11:108265819
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(153): Show | 156 | 304 | 0.5132 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2467-1352C>T | ||||||
|
chr11:108266163
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0020a0001c0024others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2467-1008C>T | ||||||
|
chr11:108266789
|
AT | A | intron_variant | MODIFIER | HG00323.hp2 HG02523.hp2 HG03130.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0016a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0016t0002others(1): Show | a0001c0001t0001g0223a0001c0001t0001g0228a0001c0001t0001g0260others(5): Show | 8 | 304 | 0.0263 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2467-360delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108267048
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0008a0001c0010others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(53): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(216): Show | 219 | 304 | 0.7204 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 16/62 | c.2467-123T>A | ||||||
|
chr11:108270182
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(150): Show | 153 | 304 | 0.5033 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 18/62 | c.2839-882C>T | ||||||
|
chr11:108272455
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0008a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(49): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(203): Show | 206 | 304 | 0.6776 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 20/62 | c.3078-77C>T | ||||||
|
chr11:108273331
|
CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(143): Show | 146 | 304 | 0.4803 | -7 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | c.3284+500_3284+506delTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108274345
|
TTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | -2 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | c.3284+1505_3284+1506delGT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108277538
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0012others(18): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(192): Show | 195 | 304 | 0.6415 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | c.3285-1953T>C | ||||||
|
chr11:108277605
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0008a0001c0010others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(60): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(242): Show | 245 | 304 | 0.8059 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | c.3285-1886T>C | ||||||
|
chr11:108278112
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0008a0001c0012others(23): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(47): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(198): Show | 201 | 304 | 0.6612 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | c.3285-1379A>G | ||||||
|
chr11:108279937
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 23/62 | c.3402+329A>T | ||||||
|
chr11:108280542
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0012others(16): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(189): Show | 192 | 304 | 0.6316 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 23/62 | c.3403-453G>A | ||||||
|
chr11:108280980
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(160): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(160): Show | 163 | 304 | 0.5362 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 23/62 | c.3403-13dupA | INFO_REALIGN_3_PRIME | |||||
|
chr11:108281855
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(149): Show | 152 | 304 | 0.5000 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 24/62 | c.3576+687C>T | ||||||
|
chr11:108281918
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(149): Show | 152 | 304 | 0.5000 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 24/62 | c.3576+750A>G | ||||||
|
chr11:108283370
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(149): Show | 152 | 304 | 0.5000 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 25/62 | c.3746+491G>C | ||||||
|
chr11:108284670
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 26/62 | c.3993+197G>A | ||||||
|
chr11:108285321
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0008a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(49): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(202): Show | 205 | 304 | 0.6743 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 26/62 | c.3993+861delT | INFO_REALIGN_3_PRIME | |||||
|
chr11:108285746
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 26/62 | c.3993+1273C>A | ||||||
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chr11:108286312
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CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(147): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0020others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0153a0001c0001t0001g0158others(147): Show | 150 | 304 | 0.4934 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 26/62 | c.3994-1262delA | INFO_REALIGN_3_PRIME | |||||
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chr11:108287407
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T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(149): Show | 152 | 304 | 0.5000 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 26/62 | c.3994-193T>C | ||||||
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chr11:108288501
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C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(137): Show | 140 | 304 | 0.4605 | 1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 27/62 | c.4110-458dupT | INFO_REALIGN_3_PRIME | |||||
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chr11:108288629
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G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0020a0001c0024others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(153): Show | 156 | 304 | 0.5132 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 27/62 | c.4110-348G>A | ||||||
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chr11:108290475
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T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(151): Show | 154 | 304 | 0.5066 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 29/62 | c.4436+674T>A | ||||||
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chr11:108290525
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A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0012others(18): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(192): Show | 195 | 304 | 0.6415 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 29/62 | c.4436+724A>G | ||||||
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chr11:108290638
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CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0020a0001c0024others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(138): Show | 141 | 304 | 0.4638 | -2 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 29/62 | c.4436+865_4436+866delAA | INFO_REALIGN_3_PRIME | |||||
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chr11:108290661
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 29/62 | c.4436+860A>G | ||||||
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chr11:108293006
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 30/62 | c.4611+213A>G | ||||||
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chr11:108293891
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AAAAAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02738.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0028a0003c0003t0001a0006c0007t0001others(1): Show | a0001c0001t0028g0290a0003c0003t0001g0195a0006c0007t0001g0150others(5): Show | 8 | 304 | 0.0263 | -5 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | c.4776+416_4776+420delAAATA | INFO_REALIGN_3_PRIME | |||||
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chr11:108293919
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A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(97): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0020a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0153a0001c0001t0001g0158others(97): Show | 100 | 304 | 0.3290 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | c.4776+442A>G | ||||||
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chr11:108294348
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A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | c.4777-579A>G | ||||||
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chr11:108294492
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0008a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(49): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(203): Show | 206 | 304 | 0.6776 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | c.4777-435T>C | ||||||
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chr11:108294679
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | c.4777-248G>A | ||||||
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chr11:108294680
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | c.4777-247C>G | ||||||
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chr11:108296231
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TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | 304 | 0.4967 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 32/62 | c.4910-1054delC | INFO_REALIGN_3_PRIME | |||||
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chr11:108298136
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 33/62 | c.5005+754A>G | ||||||
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chr11:108298892
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 131 | 304 | 0.4309 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 33/62 | c.5006-822C>T | ||||||
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chr11:108299315
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 131 | 304 | 0.4309 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 33/62 | c.5006-386delT | INFO_REALIGN_3_PRIME | |||||
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chr11:108299544
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G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 131 | 304 | 0.4309 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 33/62 | c.5006-170G>A | ||||||
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chr11:108300878
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0020a0001c0024others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(137): Show | 140 | 304 | 0.4605 | -1 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 34/62 | c.5178-748delT | INFO_REALIGN_3_PRIME | |||||
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chr11:108303446
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0020a0001c0024others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(156): Show | 159 | 304 | 0.5230 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 36/62 | c.5496+417G>A | ||||||
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chr11:108303464
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C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0020a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(127): Show | 130 | 304 | 0.4276 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 36/62 | c.5496+435C>T | ||||||
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chr11:108306811
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0020others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 37/62 | c.5675-1086C>T | ||||||
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chr11:108307302
|
A | C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0009 | a0006c0007t0001g0150a0006c0007t0001g0156a0006c0007t0001g0157others(3): Show | 6 | 304 | 0.0197 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 37/62 | c.5675-595A>C | ||||||
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chr11:108310784
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0020a0001c0024others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(152): Show | 155 | 304 | 0.5099 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 39/62 | c.5918+469A>C | ||||||
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chr11:108311342
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0012others(17): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(195): Show | 198 | 304 | 0.6513 | 0 | ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 39/62 | c.5918+1027G>A | ||||||
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chr11:108311370
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T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(66): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(300): Show |