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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GFOD1_chr6_13352830_13492600 | 13410577 | GGAGAGAG others(9): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0059a0001c0001t0001g0061a0001c0001t0001g0062others(90): Show | 93 | 230 | 0.4044 | -16 | c.254 others(35): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13464861 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(106): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0099others(106): Show | 109 | 230 | 0.4739 | -16 | c.253 others(35): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13481558 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02055.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0067 | a0001c0001t0007g0094a0001c0001t0067g0159 | 2 | 230 | 0.0087 | -16 | c.253 others(33): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFPT1_chr2_69314780_69392227 | 69354999 | ATATCCAA others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02970.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0049 | a0001c0001t0002g0038a0001c0001t0015g0034a0001c0001t0015g0035others(2): Show | 5 | 366 | 0.0137 | -16 | c.606 others(31): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 7/19 | chr2 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180337660 | GCCACCTC others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01952.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(6): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0183others(24): Show | 27 | 412 | 0.0655 | -16 | c.115 others(31): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 2/18 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180355435 | TAAAAAAA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0009 | 2 | 412 | 0.0049 | -16 | c.-22 others(27): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 2100 | chr5 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116084761 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(26): Show | a0001c0001t0006g0130a0001c0001t0007g0008a0001c0001t0008g0020others(34): Show | 37 | 214 | 0.1729 | -16 | c.119 others(35): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116166799 | TTTTTTTT others(9): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0165 | 1 | 214 | 0.0047 | -16 | c.434 others(35): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116196507 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 214 | 0.0047 | -16 | c.433 others(35): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21695168 | GAAGGGCT others(9): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 322 | 0.0031 | -16 | c.121 others(33): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21747756 | CCACACAC others(9): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03195.hp2 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0025a0001c0006t0009a0002c0002t0002 | a0001c0001t0025g0001a0001c0006t0009g0233a0001c0006t0009g0305others(1): Show | 4 | 322 | 0.0124 | -16 | c.794 others(33): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21759429 | GGAAAGAG others(9): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0317 | 1 | 322 | 0.0031 | -16 | c.440 others(33): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21759485 | AGAAGGAA others(9): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG03834.hp2 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0231a0001c0001t0005g0241a0002c0002t0002g0086others(1): Show | 4 | 322 | 0.0124 | -16 | c.440 others(33): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21763950 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG01243.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0001g0108a0001c0001t0001g0136a0001c0001t0001g0152others(19): Show | 22 | 322 | 0.0683 | -16 | c.439 others(35): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21775989 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG03516.hp2 HG03579.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0009a0002c0002t0005 | a0001c0006t0009g0243a0002c0002t0005g0242 | 2 | 322 | 0.0062 | -16 | c.356 others(31): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
GFRA3_chr5_138247380_138279621 | 138250164 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 376 | 0.0027 | -16 | c.*27 others(27): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 2215 | chr5 | TogoVar | ||||||
GGA2_chr16_23458542_23515494 | 23467387 | AACACACA others(9): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0055 | a0002c0002t0055g0035 | 1 | 254 | 0.0039 | -16 | c.*18 others(25): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 17/17 | 187 | chr16 | TogoVar | |||||
GGA2_chr16_23458542_23515494 | 23510906 | CGTGTGTG others(9): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0124a0001c0001t0003g0007 | 2 | 254 | 0.0079 | -16 | c.-51 others(25): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 413 | chr16 | TogoVar | ||||||
GGACT_chr13_100525180_100593789 | 100550299 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01884.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0068others(43): Show | 47 | 376 | 0.1250 | -16 | c.-10 others(35): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
GGACT_chr13_100525180_100593789 | 100550417 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0184 | 1 | 376 | 0.0027 | -16 | c.-10 others(35): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03139.hp1 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0286a0001c0002t0004g0353a0001c0002t0004g0354 | 3 | 357 | 0.0084 | -16 | c.93+ others(31): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36576553 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA18943.hp2 NA18969.hp1 others(11): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0003a0003c0005t0003 | a0001c0002t0003g0001a0001c0002t0003g0002a0001c0002t0003g0029others(10): Show | 14 | 357 | 0.0392 | -16 | c.642 others(33): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36576570 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(52): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0268a0001c0002t0001g0298a0001c0002t0003g0022others(52): Show | 55 | 357 | 0.1541 | -16 | c.642 others(33): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36576635 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 357 | 0.0028 | -16 | c.642 others(33): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24605260 | ATATATTA others(9): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02735.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0001a0001c0001t0009a0001c0007t0005others(3): Show | a0001c0001t0001g0046a0001c0001t0009g0152a0001c0007t0005g0044others(6): Show | 9 | 426 | 0.0211 | -16 | c.-42 others(35): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24611531 | CTATCTAT others(9): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0007a0002c0004 | a0001c0007t0025a0002c0004t0010 | a0001c0007t0025g0275a0002c0004t0010g0258a0002c0004t0010g0261others(1): Show | 4 | 426 | 0.0094 | -16 | c.164 others(31): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24611535 | CTATCTAT others(9): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0006a0002c0003a0002c0004others(1): Show | a0001c0006t0001a0001c0006t0002a0002c0003t0003others(3): Show | a0001c0006t0001g0172a0001c0006t0001g0239a0001c0006t0002g0412others(6): Show | 9 | 426 | 0.0211 | -16 | c.164 others(31): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24611539 | CTATCATC others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(75): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0001t0018a0002c0002t0001others(8): Show | a0001c0001t0002g0282a0001c0001t0002g0283a0001c0001t0002g0291others(73): Show | 78 | 426 | 0.1831 | -16 | c.164 others(31): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24611543 | CATCTATC others(9): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01978.hp2 HG02165.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0002c0002t0001 | a0001c0001t0001g0050a0001c0001t0001g0060a0001c0001t0001g0077others(7): Show | 10 | 426 | 0.0235 | -16 | c.164 others(31): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT5_chr22_24214660_24250082 | 24228056 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02738.hp1 HG02738.hp2 |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0002 | a0002c0002t0001g0199a0008c0011t0002g0358a0008c0011t0002g0359 | 3 | 420 | 0.0071 | -16 | c.902 others(33): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 6/11 | chr22 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24238858 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG02735.hp2 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0222a0001c0003t0001g0223 | 2 | 420 | 0.0048 | -16 | c.174 others(33): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24238924 | TAATATAT others(9): Show |
T | intron_variant | MODIFIER | HG02080.hp1 HG03927.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0001t0001g0267others(1): Show | 4 | 420 | 0.0095 | -16 | c.174 others(33): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34853340 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(115): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0012others(71): Show | 118 | 354 | 0.3333 | -16 | c.132 others(33): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 10/14 | chr20 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63912747 | ATTTTAGT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0010a0001c0003t0002g0010 | 2 | 420 | 0.0048 | -16 | c.*45 others(27): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4455 | chr17 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63912753 | GTTTCTTT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG02083.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0004a0005c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(4): Show | 18 | 420 | 0.0429 | -16 | c.*45 others(27): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4449 | chr17 | TogoVar | ||||||
GH2_chr17_63875215_63886944 | 63875552 | TTTTCTTT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01516.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 5 | 426 | 0.0117 | -16 | c.*47 others(27): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4662 | chr17 | TogoVar | ||||||
GHDC_chr17_42184087_42199494 | 42187582 | CTTTTTTT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02040.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0003 | a0001c0001t0001g0001a0002c0003t0001g0009a0002c0003t0001g0026others(1): Show | 10 | 374 | 0.0267 | -16 | c.*21 others(27): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 1504 | chr17 | TogoVar | ||||||
GHITM_chr10_84134509_84158568 | 84154874 | TTCACAGC others(9): Show |
T | downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 450 | 0.0022 | -16 | c.*25 others(27): Show |
GHITM | ENSG00000165678.22 | transcript | ENST00000372134.6 | protein_coding | 1307 | chr10 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968605 | TCTCCCTC others(9): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 422 | 0.0024 | -16 | c.58- others(29): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42579074 | TATAGATA others(9): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03540.hp1 HG03834.hp2 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0003c0003t0003a0004c0004t0032 | a0002c0002t0001g0167a0002c0002t0001g0172a0003c0003t0003g0145others(2): Show | 5 | 210 | 0.0238 | -16 | c.70+ others(33): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42579128 | TAGATAGA others(9): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG02083.hp1 others(2): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0003c0003t0026a0005c0007t0025 | a0003c0003t0003g0119a0003c0003t0003g0126a0003c0003t0003g0153others(2): Show | 5 | 210 | 0.0238 | -16 | c.70+ others(33): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232695507 | CCATTGCA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02559.hp2 |
a0002 | a0002c0006 | a0002c0006t0007a0002c0006t0028 | a0002c0006t0007g0370a0002c0006t0028g0369 | 2 | 376 | 0.0053 | -16 | c.-19 others(27): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 1823 | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836263 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02300.hp1 HG02647.hp1 NA18947.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0002 | a0001c0003t0003g0024a0001c0003t0003g0137a0001c0003t0003g0149others(5): Show | 8 | 376 | 0.0213 | -16 | c.276 others(35): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232836315 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02602.hp1 HG03516.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0034 | a0002c0001t0002g0124a0002c0001t0004g0008a0002c0001t0004g0094others(1): Show | 4 | 376 | 0.0106 | -16 | c.276 others(35): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP1_chr7_150711613_150729284 | 150718962 | GGTGGTTA others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(271): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0013others(53): Show | 274 | 434 | 0.6313 | -16 | c.-6- others(27): Show |
GIMAP1 | ENSG00000213203.3 | transcript | ENST00000307194.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMAP2_chr7_150680706_150698641 | 150687105 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0151 | 1 | 456 | 0.0022 | -16 | c.28+ others(27): Show |
GIMAP2 | ENSG00000106560.11 | transcript | ENST00000223293.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMAP8_chr7_150445630_150484393 | 150452675 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 372 | 0.0027 | -16 | c.-29 others(33): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMD1_chr4_106352392_106373778 | 106354214 | TACACACA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02922.hp1 HG03486.hp1 others(2): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0002a0002c0007t0002 | a0002c0003t0002g0040a0002c0007t0002g0035a0002c0007t0002g0036 | 5 | 452 | 0.0111 | -16 | c.*39 others(27): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 3177 | chr4 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562302 | ATATATAT others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 380 | 0.0026 | -16 | c.-41 others(27): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4072 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149570134 | TTTTATAT others(9): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 380 | 0.0026 | -16 | c.121 others(33): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |