view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CR1_chr1_207491157_207646765 | 207617596 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01515.hp1 HG01515.hp2 others(20): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0002c0002t0002a0007c0007t0001others(1): Show | a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 others(19): Show |
23 | 351 | 0.0655 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617598 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01070.hp2 others(13): Show |
a0002a0007 | a0002c0002a0002c0053a0007c0007others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0124 others(13): Show |
16 | 352 | 0.0455 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617600 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02970.hp1 HG03471.hp2 others(6): Show |
a0002a0004a0015others(1): Show | a0002c0002a0004c0004a0004c0009others(2): Show | a0002c0002t0001a0002c0002t0003a0004c0004t0001others(3): Show | a0002c0002t0001g0005 a0002c0002t0001g0118 a0002c0002t0001g0121 others(6): Show |
9 | 324 | 0.0278 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617602 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG06807.hp1 NA18522.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0001a0005c0006t0001 | a0002c0002t0001g0130 a0005c0006t0001g0001 a0005c0006t0001g0090 |
4 | 316 | 0.0127 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617604 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0083 | 1 | 324 | 0.0031 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617606 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp2 |
a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0059 a0004c0009t0002g0060 |
2 | 334 | 0.0060 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617608 | TATATAGA others(23): Show |
T | intron_variant | MODIFIER | HG00323.hp2 NA19012.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0322 a0004c0004t0002g0327 |
2 | 341 | 0.0059 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56218425 | CCCTTCCC others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0145 | 1 | 247 | 0.0040 | -30 | c.-18 others(51): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56218435 | CCCTTTCC others(23): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(4): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0006others(4): Show | a0001c0001t0001a0002c0002t0002a0003c0006t0001others(4): Show | a0001c0001t0001g0112 a0002c0002t0002g0053 a0003c0006t0001g0247 others(4): Show |
7 | 248 | 0.0282 | -30 | c.-18 others(51): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56295660 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02886.hp2 |
a0002a0006 | a0002c0007a0006c0038a0006c0039 | a0002c0007t0001a0006c0038t0002a0006c0039t0003 | a0002c0007t0001g0026 a0006c0038t0002g0099 a0006c0039t0003g0245 |
3 | 14 | 0.2143 | -30 | c.-16 others(47): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3635776 | AATTACCA others(23): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 318 | 0.0031 | -30 | c.160 others(49): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 14/19 | chr12 | TogoVar | |||||||
CRACR2A_chr12_3610328_3758109 | 3752341 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01069.hp2 others(67): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 others(67): Show |
70 | 318 | 0.2201 | -30 | c.-38 others(47): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CRAT_chr9_129089794_129115793 | 129112685 | TAATCCCA others(23): Show |
T | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0149 | 1 | 418 | 0.0024 | -30 | c.-22 others(41): Show |
CRAT | ENSG00000095321.18 | transcript | ENST00000318080.7 | protein_coding | 1893 | chr9 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197354812 | CCCCCGCC others(23): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 184 | 0.0054 | -30 | c.989 others(47): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0010 a0001c0002t0002g0005 |
3 | 18 | 0.1667 | -30 | c.-32 others(41): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | |||||||
CREB3L1_chr11_46272662_46326409 | 46305628 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01074.hp2 others(36): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0002g0007 others(33): Show |
39 | 282 | 0.1383 | -30 | c.332 others(47): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137922370 | CTATATAT others(23): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG03834.hp2 NA18612.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0009a0002c0002t0027 | a0001c0001t0001g0240 a0001c0001t0001g0255 a0001c0007t0009g0228 others(1): Show |
4 | 275 | 0.0145 | -30 | c.319 others(47): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137922408 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0206 | 1 | 279 | 0.0036 | -30 | c.319 others(47): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137972736 | TAGAGAGA others(23): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0001 | a0001c0001t0005g0030 a0003c0003t0001g0097 |
2 | 157 | 0.0127 | -30 | c.102 others(49): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB3L3_chr19_4148631_4178054 | 4172234 | TACAGCCT others(23): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0042 | 1 | 402 | 0.0025 | -30 | c.*28 others(39): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 10/10 | 283 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28642957 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0099 others(3): Show |
6 | 196 | 0.0306 | -30 | c.464 others(49): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3880238 | CCCGGGCC others(23): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0005 | 1 | 284 | 0.0035 | -30 | c.-35 others(39): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/31 | 323 | chr16 | TogoVar | ||||||
CRISP2_chr6_49687359_49718543 | 49701618 | ATATACAT others(23): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02897.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0151 |
3 | 97 | 0.0309 | -30 | c.67- others(43): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1188868 | TATATGTA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0055 a0001c0002t0001g0125 a0001c0002t0002g0007 others(39): Show |
42 | 165 | 0.2545 | -30 | c.*19 others(41): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1621 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1188898 | CATATGTA others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0116 | 1 | 165 | 0.0061 | -30 | c.*19 others(41): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1591 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1211652 | GATAAGTG others(23): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0141 | 1 | 165 | 0.0061 | -30 | c.79+ others(43): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
CRNN_chr1_152404243_152419263 | 152418249 | TCGCGCGC others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01978.hp2 HG02015.hp2 HG02129.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0034 |
10 | 390 | 0.0256 | -30 | c.-40 others(41): Show |
CRNN | ENSG00000143536.7 | transcript | ENST00000271835.3 | protein_coding | 3987 | chr1 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16089166 | ATATATAC others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0090 | a0002c0002t0090g0224 | 1 | 288 | 0.0035 | -30 | c.*24 others(41): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 10/10 | 2499 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16089200 | ATACGTAC others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01496.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0035a0001c0001t0036a0001c0001t0085others(3): Show | a0001c0001t0035g0059 a0001c0001t0036g0018 a0001c0001t0036g0019 others(4): Show |
7 | 285 | 0.0246 | -30 | c.*24 others(41): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 10/10 | 2465 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16414350 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02647.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0081 | a0002c0002t0008g0250 a0002c0002t0008g0251 a0002c0002t0008g0252 others(1): Show |
4 | 57 | 0.0702 | -30 | c.257 others(47): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 97894711 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00621.hp2 others(38): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0068 others(38): Show |
41 | 71 | 0.5775 | -30 | c.148 others(47): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | |||||||
CRTAP_chr3_33109014_33152773 | 33149492 | TGGGGCAA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0182 | 1 | 406 | 0.0025 | -30 | c.*70 others(41): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 1720 | chr3 | TogoVar | |||||||
CRTC2_chr1_153942675_153963612 | 153953737 | TTTCTGGT others(23): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 368 | 0.0027 | -30 | c.435 others(45): Show |
CRTC2 | ENSG00000160741.17 | transcript | ENST00000368633.2 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107069583 | TAAAGTAT others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(153): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(146): Show |
156 | 317 | 0.4921 | -30 | c.158 others(49): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107098202 | AAAAGGAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02723.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0138 a0001c0001t0005g0225 a0001c0001t0005g0227 |
3 | 37 | 0.0811 | -30 | c.-52 others(41): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 4654 | chr12 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26627390 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 others(5): Show |
20 | 399 | 0.0501 | -30 | c.301 others(45): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106358191 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02647.hp2 others(1): Show |
a0002a0003a0007others(1): Show | a0002c0003a0003c0038a0007c0007others(1): Show | a0002c0003t0007a0003c0038t0007a0007c0007t0012others(1): Show | a0002c0003t0007g0109 a0003c0038t0007g0135 a0007c0007t0012g0149 others(1): Show |
4 | 270 | 0.0148 | -30 | c.-27 others(41): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2525 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106433729 | ATATATAC others(23): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG02895.hp2 others(1): Show |
a0008a0011 | a0008c0010a0011c0015 | a0008c0010t0004a0011c0015t0003 | a0008c0010t0004g0035 a0008c0010t0004g0168 a0011c0015t0003g0240 others(1): Show |
4 | 265 | 0.0151 | -30 | c.174 others(49): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97899445 | GAGATGGC others(23): Show |
G | intron_variant | MODIFIER | HG03225.hp1 HG03225.hp2 |
a0002 | a0002c0001a0002c0018 | a0002c0001t0001a0002c0018t0001 | a0002c0001t0001g0121 a0002c0018t0001g0158 |
2 | 314 | 0.0064 | -30 | c.797 others(47): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1289892 | TTGTTTTG others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0051 a0001c0001t0003g0094 a0001c0001t0003g0134 others(4): Show |
7 | 157 | 0.0446 | -30 | c.474 others(45): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666781 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0179 | 1 | 224 | 0.0045 | -30 | c.-39 others(51): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666789 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0011 | a0001c0001t0001g0211 a0001c0002t0011g0177 |
2 | 224 | 0.0089 | -30 | c.-39 others(51): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666793 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02735.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0007a0002c0003t0005others(1): Show | a0001c0002t0002g0103 a0001c0002t0007g0126 a0002c0003t0005g0076 others(1): Show |
4 | 195 | 0.0205 | -30 | c.-39 others(51): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3237231 | GCCGAGGC others(23): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG02257.hp2 others(7): Show |
a0001a0002a0010 | a0001c0003a0001c0020a0001c0059others(6): Show | a0001c0003t0011a0001c0003t0019a0001c0020t0018others(7): Show | a0001c0003t0011g0026 a0001c0003t0019g0107 a0001c0020t0018g0065 others(7): Show |
10 | 126 | 0.0794 | -30 | c.415 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3389613 | GAATAAGT others(23): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01081.hp1 others(49): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0004a0001c0005others(46): Show | a0001c0001t0002a0001c0001t0038a0001c0004t0020others(48): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(49): Show |
52 | 126 | 0.4127 | -30 | c.259 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3412081 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02647.hp2 others(3): Show |
a0002a0005a0006others(1): Show | a0002c0074a0002c0084a0005c0064others(3): Show | a0002c0074t0040a0002c0084t0017a0005c0064t0050others(3): Show | a0002c0074t0040g0031 a0002c0084t0017g0087 a0005c0064t0050g0078 others(3): Show |
6 | 113 | 0.0531 | -30 | c.156 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3485762 | AAAAATAA others(23): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0018 | a0018c0042 | a0018c0042t0004 | a0018c0042t0004g0004 | 1 | 14 | 0.0714 | -30 | c.144 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3660480 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03017.hp2 HG03710.hp1 |
a0001a0002a0026 | a0001c0006a0002c0051a0026c0100 | a0001c0006t0060a0002c0051t0007a0026c0100t0016 | a0001c0006t0060g0103 a0002c0051t0007g0081 a0026c0100t0016g0121 |
3 | 32 | 0.0938 | -30 | c.101 others(51): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3725668 | GGTCTCAG others(23): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0095 | 1 | 126 | 0.0079 | -30 | c.932 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0019 | a0001c0019t0078 | a0001c0019t0078g0105 | 1 | 6 | 0.1667 | -30 | c.819 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar |