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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCNP_chr19_40217208_40231689 | 40223383 | C | G | splice_region_variant others(1): Show |
LOW | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 414 | 0.0024 | 0 | c.672 others(5): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
CCNP_chr19_40217208_40231689 | 40223384 | T | G | splice_region_variant others(1): Show |
LOW | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 414 | 0.0024 | 0 | c.672 others(5): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
CCNP_chr19_40217208_40231689 | 40223385 | C | G | splice_region_variant others(1): Show |
LOW | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 414 | 0.0024 | 0 | c.672 others(5): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
CCNP_chr19_40217208_40231689 | 40223388 | C | G | missense_variant others(1): Show |
MODERATE | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 414 | 0.0024 | 0 | c.672 others(3): Show |
p.Gln others(6): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 4/5 | 720/1816 | 672/924 | 224/307 | chr19 | TogoVar | ||
CCNP_chr19_40217208_40231689 | 40223389 | T | G | missense_variant others(1): Show |
MODERATE | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 414 | 0.0024 | 0 | c.671 others(3): Show |
p.Gln others(6): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 4/5 | 719/1816 | 671/924 | 224/307 | chr19 | TogoVar | ||
CCNP_chr19_40217208_40231689 | 40224484 | G | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 2 | 414 | 0.0048 | 0 | c.513 others(5): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CCNQ_chrX_153582925_153604139 | 153594539 | G | A | splice_region_variant others(1): Show |
LOW | HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | 302 | 0.0066 | 0 | c.429 others(5): Show |
CCNQ | ENSG00000262919.8 | transcript | ENST00000576892.8 | protein_coding | 3/4 | chrX | TogoVar | ||||||
CCNQ_chrX_153582925_153604139 | 153595997 | CCA | C | splice_region_variant others(1): Show |
LOW | NA18955.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0067 | 1 | 302 | 0.0033 | -2 | c.296 others(13): Show |
CCNQ | ENSG00000262919.8 | transcript | ENST00000576892.8 | protein_coding | 2/4 | chrX | TogoVar | ||||||
CCNQ_chrX_153582925_153604139 | 153596000 | T | A | splice_region_variant others(1): Show |
LOW | NA18955.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0067 | 1 | 302 | 0.0033 | 0 | c.296 others(5): Show |
CCNQ | ENSG00000262919.8 | transcript | ENST00000576892.8 | protein_coding | 2/4 | chrX | TogoVar | ||||||
CCNT1_chr12_48683458_48721707 | 48698189 | G | GA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(380): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(278): Show | 383 | 386 | 0.9922 | 1 | c.497 others(6): Show |
CCNT1 | ENSG00000129315.12 | transcript | ENST00000261900.8 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
CCNT2_chr2_134913822_134964342 | 134946080 | G | GT | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00544.hp2 HG00609.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0259a0001c0001t0005g0181a0001c0001t0005g0277others(47): Show | 50 | 404 | 0.1238 | 1 | c.494 others(6): Show |
CCNT2 | ENSG00000082258.13 | transcript | ENST00000264157.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCP110_chr16_19518942_19558408 | 19545888 | G | A | missense_variant others(1): Show |
MODERATE | HG02027.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0022 | 1 | 386 | 0.0026 | 0 | c.277 others(4): Show |
p.Met others(6): Show |
CCP110 | ENSG00000103540.17 | transcript | ENST00000694978.1 | protein_coding | 11/14 | 2937/5275 | 2775/2976 | 925/991 | chr16 | TogoVar | ||
CCPG1_chr15_55350239_55413359 | 55360949 | AT | A | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02615.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0044a0001c0002t0006g0045a0001c0002t0006g0054others(3): Show | 6 | 354 | 0.0170 | -1 | c.829 others(6): Show |
CCPG1 | ENSG00000260916.8 | transcript | ENST00000442196.8 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
CCR2_chr3_46349111_46365940 | 46360940 | A | T | splice_region_variant | LOW | HG01168.hp2 HG01169.hp1 HG01496.hp2 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010 | a0001c0002t0006g0005a0001c0002t0010g0005 | 23 | 438 | 0.0525 | 0 | c.*23 others(5): Show |
CCR2 | ENSG00000121807.7 | transcript | ENST00000445132.3 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CCR5_chr3_46365946_46381206 | 46372893 | G | C | splice_region_variant | LOW | HG01346.hp1 HG02683.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 3 | 422 | 0.0071 | 0 | c.-10 others(3): Show |
CCR5 | ENSG00000160791.14 | transcript | ENST00000292303.5 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CCSAP_chr1_229316015_229348047 | 229327006 | G | A | missense_variant others(1): Show |
MODERATE | HG06807.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0129 | 1 | 436 | 0.0023 | 0 | c.368 others(3): Show |
p.Ala others(6): Show |
CCSAP | ENSG00000154429.11 | transcript | ENST00000284617.7 | protein_coding | 3/4 | 552/5217 | 368/813 | 123/270 | chr1 | TogoVar | ||
CCSER1_chr4_90122394_91610295 | 90312860 | T | C | splice_region_variant others(1): Show |
LOW | HG02886.hp1 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0011 | 1 | 38 | 0.0263 | 0 | c.132 others(6): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
CCSER2_chr10_84323589_84523517 | 84477575 | G | A | missense_variant others(1): Show |
MODERATE | HG00639.hp1 HG02055.hp1 HG02145.hp1 others(12): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0019 | a0003c0004t0007g0042a0003c0004t0007g0043a0003c0004t0007g0045others(12): Show | 15 | 370 | 0.0405 | 0 | c.223 others(4): Show |
p.Ala others(6): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/10 | 2495/7653 | 2236/3144 | 746/1047 | chr10 | TogoVar | ||
CCT2_chr12_69580459_69606570 | 69592969 | G | T | splice_region_variant others(1): Show |
LOW | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 410 | 0.0024 | 0 | c.751 others(5): Show |
CCT2 | ENSG00000166226.13 | transcript | ENST00000299300.11 | protein_coding | 8/15 | chr12 | TogoVar | ||||||
CCT2_chr12_69580459_69606570 | 69599855 | C | T | splice_region_variant others(1): Show |
LOW | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 410 | 0.0024 | 0 | c.143 others(6): Show |
CCT2 | ENSG00000166226.13 | transcript | ENST00000299300.11 | protein_coding | 14/15 | chr12 | TogoVar | ||||||
CCT3_chr1_156303968_156343292 | 156317546 | G | A | missense_variant others(1): Show |
MODERATE | NA18948.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0142 | 1 | 392 | 0.0026 | 0 | c.761 others(3): Show |
p.Thr others(6): Show |
CCT3 | ENSG00000163468.15 | transcript | ENST00000295688.8 | protein_coding | 9/14 | 869/1977 | 761/1638 | 254/545 | chr1 | TogoVar | ||
CCT3_chr1_156303968_156343292 | 156334921 | A | G | splice_region_variant others(1): Show |
LOW | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 392 | 0.0026 | 0 | c.94- others(4): Show |
CCT3 | ENSG00000163468.15 | transcript | ENST00000295688.8 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
CCT6A_chr7_56046765_56068989 | 56054365 | A | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(102): Show | 293 | 428 | 0.6846 | 0 | c.202 others(5): Show |
CCT6A | ENSG00000146731.11 | transcript | ENST00000275603.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CCT6B_chr17_34922861_34966460 | 34961250 | GTC | G | splice_region_variant others(1): Show |
LOW | HG01192.hp1 HG01361.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0156others(5): Show | 12 | 402 | 0.0299 | -2 | c.137 others(13): Show |
CCT6B | ENSG00000132141.14 | transcript | ENST00000314144.10 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
CCT7_chr2_73229308_73258005 | 73240548 | GAA | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(146): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0018others(65): Show | 149 | 378 | 0.3942 | -2 | c.267 others(13): Show |
CCT7 | ENSG00000135624.17 | transcript | ENST00000258091.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCT7_chr2_73229308_73258005 | 73247754 | T | C | splice_region_variant others(1): Show |
LOW | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0153a0001c0003t0001g0159 | 2 | 378 | 0.0053 | 0 | c.619 others(5): Show |
CCT7 | ENSG00000135624.17 | transcript | ENST00000258091.10 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
CCT8_chr21_29051326_29078648 | 29061570 | G | GT | splice_region_variant others(1): Show |
LOW | HG02083.hp2 HG02155.hp2 NA18944.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149a0001c0001t0002g0151a0001c0001t0002g0152others(1): Show | 4 | 424 | 0.0094 | 1 | c.121 others(7): Show |
CCT8 | ENSG00000156261.13 | transcript | ENST00000286788.9 | protein_coding | 11/14 | chr21 | TogoVar | ||||||
CCZ1B_chr7_6793937_6831275 | 6799283 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG02559.hp2 |
a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0027a0001c0007t0007g0028 | 2 | 354 | 0.0057 | 0 | c.139 others(6): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 14/14 | chr7 | TogoVar | ||||||
CCZ1B_chr7_6793937_6831275 | 6799284 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(103): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0005a0001c0001t0002g0024a0001c0001t0002g0025others(98): Show | 106 | 354 | 0.2994 | 0 | c.139 others(6): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 14/14 | chr7 | TogoVar | ||||||
CCZ1B_chr7_6793937_6831275 | 6800949 | A | G | splice_region_variant others(1): Show |
LOW | HG03139.hp1 HG03225.hp1 |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0101a0003c0006t0003g0102 | 2 | 354 | 0.0057 | 0 | c.139 others(4): Show |
p.Asn others(6): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 14/15 | 1470/1814 | 1392/1449 | 464/482 | chr7 | TogoVar | ||
CCZ1B_chr7_6793937_6831275 | 6804940 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(227): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0002g0005a0001c0001t0002g0024a0001c0001t0002g0025others(212): Show | 230 | 354 | 0.6497 | 0 | c.110 others(4): Show |
p.Ser others(6): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 12/15 | 1182/1814 | 1104/1449 | 368/482 | chr7 | TogoVar | ||
CCZ1B_chr7_6793937_6831275 | 6819945 | T | TG | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01081.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0005t0006others(2): Show | a0001c0001t0004g0183a0001c0001t0004g0184a0001c0001t0004g0185others(7): Show | 10 | 354 | 0.0283 | 1 | c.523 others(6): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 6/14 | chr7 | TogoVar | ||||||
CCZ1B_chr7_6793937_6831275 | 6823305 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01952.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0004a0001c0001t0006a0001c0005t0006others(1): Show | a0001c0001t0004g0186a0001c0001t0004g0188a0001c0001t0006g0189others(3): Show | 6 | 354 | 0.0170 | 0 | c.438 others(5): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 5/14 | chr7 | TogoVar | ||||||
CCZ1B_chr7_6793937_6831275 | 6823368 | C | T | splice_region_variant others(1): Show |
LOW | NA19043.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0107 | 1 | 354 | 0.0028 | 0 | c.391 others(5): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 4/14 | chr7 | TogoVar | ||||||
CCZ1_chr7_5893733_5931550 | 5901712 | T | C | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02965.hp1 HG02976.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0009a0001c0006t0018a0003c0003t0007 | a0001c0001t0009g0019a0001c0001t0009g0021a0001c0006t0018g0113others(1): Show | 4 | 114 | 0.0351 | 0 | c.438 others(5): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 5/14 | chr7 | TogoVar | ||||||
CCZ1_chr7_5893733_5931550 | 5905086 | TC | T | splice_region_variant others(1): Show |
LOW | HG02165.hp1 HG02602.hp2 HG02622.hp1 |
a0001a0005 | a0001c0007a0001c0010a0005c0009 | a0001c0007t0012a0001c0010t0007a0005c0009t0007 | a0001c0007t0012g0028a0001c0010t0007g0094a0005c0009t0007g0101 | 3 | 114 | 0.0263 | -1 | c.523 others(6): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCZ1_chr7_5893733_5931550 | 5918864 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00639.hp1 HG00738.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0061a0003c0003t0003g0062a0003c0003t0003g0063others(3): Show | 6 | 114 | 0.0526 | 0 | c.955 others(5): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
CCZ1_chr7_5893733_5931550 | 5919964 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG01081.hp2 HG01175.hp1 others(35): Show |
a0001a0002 | a0001c0006a0001c0007a0001c0010others(2): Show | a0001c0006t0001a0001c0006t0018a0001c0007t0011others(7): Show | a0001c0006t0001g0048a0001c0006t0001g0066a0001c0006t0018g0113others(35): Show | 38 | 114 | 0.3333 | 0 | c.110 others(4): Show |
p.Ser others(6): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 12/15 | 1171/2379 | 1104/1449 | 368/482 | chr7 | TogoVar | ||
CCZ1_chr7_5893733_5931550 | 5919965 | G | T | missense_variant others(1): Show |
MODERATE | HG02165.hp1 | a0005 | a0005c0009 | a0005c0009t0007 | a0005c0009t0007g0101 | 1 | 114 | 0.0088 | 0 | c.110 others(4): Show |
p.Gly others(6): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 12/15 | 1172/2379 | 1105/1449 | 369/482 | chr7 | TogoVar | ||
CCZ1_chr7_5893733_5931550 | 5925627 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG01081.hp2 HG01175.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0002a0001c0004t0008a0001c0006t0001others(3): Show | a0001c0001t0002g0038a0001c0004t0008g0106a0001c0006t0001g0066others(16): Show | 19 | 114 | 0.1667 | 0 | c.139 others(6): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 14/14 | chr7 | TogoVar | ||||||
CD101_chr1_116996760_117041552 | 117036170 | T | G | splice_region_variant | LOW | HG02055.hp2 | a0001 | a0001c0031 | a0001c0031t0005 | a0001c0031t0005g0250 | 1 | 426 | 0.0024 | 0 | c.*36 others(3): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
CD109_chr6_73691203_73833313 | 73756689 | G | A | splice_region_variant others(1): Show |
LOW | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 362 | 0.0028 | 0 | c.673 others(5): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 6/32 | chr6 | TogoVar | ||||||
CD109_chr6_73691203_73833313 | 73766936 | G | GT | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG01081.hp1 HG01243.hp1 others(10): Show |
a0004a0007 | a0004c0005a0007c0009 | a0004c0005t0007a0004c0005t0012a0004c0005t0038others(1): Show | a0004c0005t0007g0092a0004c0005t0007g0166a0004c0005t0007g0195others(10): Show | 13 | 362 | 0.0359 | 1 | c.143 others(7): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CD109_chr6_73691203_73833313 | 73783709 | A | C | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(203): Show |
a0001a0004a0005others(17): Show | a0001c0001a0001c0012a0001c0047others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(55): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0015others(203): Show | 206 | 362 | 0.5691 | 0 | c.210 others(4): Show |
p.Tyr others(6): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 19/33 | 2121/9031 | 2108/4338 | 703/1445 | chr6 | TogoVar | ||
CD109_chr6_73691203_73833313 | 73785480 | A | G | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG03130.hp2 HG03540.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0020a0001c0001t0043a0005c0006t0004 | a0001c0001t0020g0242a0001c0001t0020g0303a0001c0001t0043g0076others(2): Show | 5 | 362 | 0.0138 | 0 | c.233 others(6): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 20/32 | chr6 | TogoVar | ||||||
CD109_chr6_73691203_73833313 | 73807079 | C | T | splice_region_variant others(1): Show |
LOW | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 362 | 0.0028 | 0 | c.318 others(6): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 25/32 | chr6 | TogoVar | ||||||
CD109_chr6_73691203_73833313 | 73809979 | T | G | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02559.hp2 HG02647.hp1 others(5): Show |
a0008 | a0008c0011 | a0008c0011t0013a0008c0011t0052 | a0008c0011t0013g0231a0008c0011t0013g0240a0008c0011t0013g0318others(5): Show | 8 | 362 | 0.0221 | 0 | c.335 others(6): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 26/32 | chr6 | TogoVar | ||||||
CD109_chr6_73691203_73833313 | 73812276 | T | A | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02809.hp1 HG02818.hp1 others(2): Show |
a0001a0009a0016others(1): Show | a0001c0001a0009c0045a0016c0021others(1): Show | a0001c0001t0016a0009c0045t0051a0016c0021t0016others(1): Show | a0001c0001t0016g0297a0009c0045t0051g0337a0016c0021t0016g0034others(2): Show | 5 | 362 | 0.0138 | 0 | c.376 others(6): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 29/32 | chr6 | TogoVar | ||||||
CD109_chr6_73691203_73833313 | 73820566 | A | G | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02559.hp2 HG02647.hp1 others(5): Show |
a0008 | a0008c0011 | a0008c0011t0013a0008c0011t0052 | a0008c0011t0013g0231a0008c0011t0013g0240a0008c0011t0013g0318others(5): Show | 8 | 362 | 0.0221 | 0 | c.416 others(6): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 32/32 | chr6 | TogoVar | ||||||
CD151_chr11_827952_843831 | 834522 | C | T | splice_region_variant others(1): Show |
LOW | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0091 | 1 | 446 | 0.0022 | 0 | c.-69 others(5): Show |
CD151 | ENSG00000177697.19 | transcript | ENST00000397420.9 | protein_coding | 1/8 | chr11 | TogoVar |