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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GGTLC3_chr22_18511344_18523161 | 18518059 | A | G | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01243.hp2 HG02738.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0004g0010a0002c0002t0001g0003others(3): Show | 8 | 34 | 0.2353 | 0 | c.-35 others(5): Show |
GGTLC3 | ENSG00000274252.1 | transcript | ENST00000619998.1 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63917753 | C | A | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 420 | 0.0024 | 0 | c.456 others(5): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63917754 | C | A | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 420 | 0.0024 | 0 | c.456 others(5): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63917755 | C | A | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 420 | 0.0024 | 0 | c.456 others(5): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63917756 | T | A | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 420 | 0.0024 | 0 | c.456 others(5): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63917757 | C | G | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 420 | 0.0024 | 0 | c.456 others(5): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63917760 | C | G | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 420 | 0.0024 | 0 | c.456 others(3): Show |
p.Gly others(6): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/5 | 519/823 | 456/654 | 152/217 | chr17 | TogoVar | ||
GH1_chr17_63912203_63923839 | 63917761 | C | G | missense_variant others(1): Show |
MODERATE | HG00738.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 420 | 0.0024 | 0 | c.455 others(3): Show |
p.Gly others(6): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/5 | 518/823 | 455/654 | 152/217 | chr17 | TogoVar | ||
GH1_chr17_63912203_63923839 | 63918017 | G | A | splice_region_variant others(1): Show |
LOW | HG01099.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0050 | 1 | 420 | 0.0024 | 0 | c.291 others(3): Show |
p.Ser others(5): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 3/5 | 354/823 | 291/654 | 97/217 | chr17 | TogoVar | ||
GHDC_chr17_42184087_42199494 | 42194394 | T | C | splice_region_variant | LOW | HG02818.hp1 HG02896.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 3 | 374 | 0.0080 | 0 | c.-99 others(3): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
GHITM_chr10_84134509_84158568 | 84139591 | G | T | splice_region_variant | LOW | HG01099.hp2 HG01168.hp1 HG01255.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0013a0001c0001t0002g0014others(8): Show | 42 | 450 | 0.0933 | 0 | c.-42 others(3): Show |
GHITM | ENSG00000165678.22 | transcript | ENST00000372134.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
GHRH_chr20_37246086_37266814 | 37256911 | GCAGAGTG others(26): Show |
G | splice_region_variant others(1): Show |
LOW | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 408 | 0.0025 | -33 | c.-19 others(45): Show |
GHRH | ENSG00000118702.11 | transcript | ENST00000373614.7 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
GHRH_chr20_37246086_37266814 | 37256913 | A | G | splice_region_variant others(1): Show |
LOW | HG02818.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 3 | 408 | 0.0074 | 0 | c.-19 others(5): Show |
GHRH | ENSG00000118702.11 | transcript | ENST00000373614.7 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
GHRL_chr3_10280666_10297947 | 10290216 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098a0001c0001t0003g0101 | 2 | 462 | 0.0043 | 0 | c.-29 others(5): Show |
GHRL | ENSG00000157017.16 | transcript | ENST00000335542.13 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
GHRL_chr3_10280666_10297947 | 10292843 | T | C | splice_region_variant | LOW | NA18970.hp2 NA18979.hp1 NA19080.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0028 | 4 | 462 | 0.0087 | 0 | c.-76 others(4): Show |
GHRL | ENSG00000157017.16 | transcript | ENST00000335542.13 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0001a0004a0008 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0021others(87): Show | 90 | 210 | 0.4286 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHSR_chr3_172438291_172453456 | 172445468 | A | G | splice_region_variant others(1): Show |
LOW | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0036 | 1 | 446 | 0.0022 | 0 | c.797 others(5): Show |
GHSR | ENSG00000121853.4 | transcript | ENST00000241256.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
GID4_chr17_18034408_18073405 | 18054128 | A | C | missense_variant others(1): Show |
MODERATE | NA19030.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0068 | 1 | 308 | 0.0033 | 0 | c.500 others(3): Show |
p.Glu others(6): Show |
GID4 | ENSG00000141034.10 | transcript | ENST00000268719.9 | protein_coding | 3/6 | 557/4122 | 500/903 | 167/300 | chr17 | TogoVar | ||
GIGYF1_chr7_100674507_100699250 | 100681779 | C | A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02965.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0028a0001c0001t0015g0195 | 4 | 398 | 0.0101 | 0 | c.305 others(6): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 26/26 | chr7 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100682315 | C | T | splice_region_variant others(1): Show |
LOW | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 398 | 0.0025 | 0 | c.276 others(6): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 24/26 | chr7 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100682323 | G | A | splice_region_variant others(1): Show |
LOW | HG00738.hp2 HG01074.hp1 HG01175.hp2 others(3): Show |
a0001 | a0001c0005a0001c0013 | a0001c0005t0001a0001c0005t0058a0001c0013t0001others(1): Show | a0001c0005t0001g0050a0001c0005t0001g0162a0001c0005t0058g0163others(2): Show | 6 | 398 | 0.0151 | 0 | c.276 others(4): Show |
p.Asp others(6): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 24/27 | 3999/6559 | 2760/3108 | 920/1035 | chr7 | TogoVar | ||
GIGYF1_chr7_100674507_100699250 | 100682583 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02965.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0015 | a0001c0001t0003g0193a0001c0001t0007g0194a0001c0001t0015g0028others(1): Show | 6 | 398 | 0.0151 | 0 | c.260 others(6): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 23/26 | chr7 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100687290 | C | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(94): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(198): Show | 360 | 398 | 0.9045 | 0 | c.482 others(5): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 8/26 | chr7 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232756197 | C | CT | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp1 HG00642.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0002c0001others(4): Show | a0001c0002t0001a0001c0002t0024a0001c0002t0025others(15): Show | a0001c0002t0001g0305a0001c0002t0001g0306a0001c0002t0001g0348others(98): Show | 101 | 376 | 0.2686 | 1 | c.268 others(6): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232756197 | CT | C | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00673.hp1 HG01109.hp2 others(70): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0016others(7): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0010others(16): Show | a0001c0002t0001g0187a0001c0002t0005g0193a0001c0002t0005g0295others(69): Show | 73 | 376 | 0.1942 | -1 | c.268 others(6): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232756197 | CTTTTTT | C | splice_region_variant others(1): Show |
LOW | HG02132.hp1 NA18522.hp2 NA18943.hp1 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0032 | a0002c0001t0002g0053a0002c0001t0002g0055a0002c0001t0002g0057others(4): Show | 7 | 376 | 0.0186 | -6 | c.268 others(18): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232756197 | CTTTTTTT others(3): Show |
C | splice_region_variant others(1): Show |
LOW | HG01257.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0052 | 1 | 376 | 0.0027 | -10 | c.268 others(22): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232847552 | CACAGCAG others(5): Show |
C | conservative_inframe_deletion others(1): Show |
MODERATE | HG01257.hp1 HG01258.hp1 |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0207a0004c0011t0001g0224 | 2 | 376 | 0.0053 | -12 | c.367 others(21): Show |
p.Pro others(15): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 27/29 | 3844/7816 | 3673/3900 | 1225/1299 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
GIMAP6_chr7_150620375_150637385 | 150630146 | C | CA | splice_region_variant others(1): Show |
LOW | HG00621.hp1 HG01243.hp1 HG01346.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(3): Show | a0001c0001t0002g0013a0001c0001t0002g0036a0001c0001t0004g0063others(4): Show | 11 | 446 | 0.0247 | 1 | c.1-5 others(4): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
GIMAP6_chr7_150620375_150637385 | 150630146 | C | CAA | splice_region_variant others(1): Show |
LOW | HG02622.hp1 HG02735.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0014 | a0001c0001t0007g0018a0001c0001t0010g0024a0001c0001t0014g0034 | 9 | 446 | 0.0202 | 2 | c.1-6 others(9): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
GIMAP6_chr7_150620375_150637385 | 150630146 | CA | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(120): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0011a0001c0001t0002g0025a0001c0001t0002g0026others(18): Show | 123 | 446 | 0.2758 | -1 | c.1-5 others(4): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
GIMAP6_chr7_150620375_150637385 | 150630146 | CAA | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(174): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(8): Show | a0001c0001t0002g0047a0001c0001t0004g0003a0001c0001t0004g0044others(21): Show | 177 | 446 | 0.3969 | -2 | c.1-6 others(9): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
GIMAP6_chr7_150620375_150637385 | 150630146 | CAAA | C | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG02630.hp2 HG02647.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0001 | a0001c0001t0002g0015a0001c0001t0002g0028a0001c0001t0002g0042others(3): Show | 14 | 446 | 0.0314 | -3 | c.1-7 others(10): Show |
GIMAP6 | ENSG00000133561.15 | transcript | ENST00000328902.9 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
GIMD1_chr4_106352392_106373778 | 106368703 | C | T | splice_region_variant others(1): Show |
LOW | HG02922.hp1 HG03486.hp1 NA18906.hp1 others(1): Show |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0035a0002c0007t0002g0036 | 4 | 452 | 0.0089 | 0 | c.-3+ others(4): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85688801 | G | A | splice_region_variant others(1): Show |
LOW | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0104 | 1 | 470 | 0.0021 | 0 | c.90+ others(4): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41539782 | G | T | splice_region_variant others(1): Show |
LOW | HG01361.hp1 HG02622.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0045a0001c0001t0013g0127 | 3 | 426 | 0.0070 | 0 | c.395 others(5): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 5/7 | chr8 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14478566 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(132): Show |
a0001a0004a0008others(1): Show | a0001c0002a0001c0006a0001c0009others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(41): Show | a0001c0002t0001g0117a0001c0002t0001g0124a0001c0002t0001g0224others(119): Show | 135 | 444 | 0.3041 | 0 | c.852 others(3): Show |
p.Ala others(6): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 9/9 | 1117/1921 | 852/1002 | 284/333 | chr19 | TogoVar | ||
GIPC1_chr19_14472762_14501127 | 14482686 | T | C | splice_region_variant others(1): Show |
LOW | NA19063.hp2 | a0009 | a0009c0010 | a0009c0010t0005 | a0009c0010t0005g0051 | 1 | 444 | 0.0023 | 0 | c.288 others(5): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 4/8 | chr19 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14482689 | C | G | missense_variant others(1): Show |
MODERATE | NA19063.hp2 | a0009 | a0009c0010 | a0009c0010t0005 | a0009c0010t0005g0051 | 1 | 444 | 0.0023 | 0 | c.288 others(3): Show |
p.Glu others(5): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 4/9 | 553/1921 | 288/1002 | 96/333 | chr19 | TogoVar | ||
GIPC3_chr19_3580478_3598541 | 3589437 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG01070.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0052a0001c0002t0001a0001c0002t0002others(30): Show | a0001c0001t0052g0063a0001c0002t0001g0018a0001c0002t0002g0030others(51): Show | 65 | 430 | 0.1512 | 0 | c.593 others(5): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
GIPR_chr19_45663221_45688722 | 45669468 | ACCCTCCA others(3): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0108 | 1 | 416 | 0.0024 | -10 | c.-44 others(19): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 2/14 | 42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
GIPR_chr19_45663221_45688722 | 45677787 | C | A | splice_region_variant others(1): Show |
LOW | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0222a0002c0002t0016g0223 | 2 | 416 | 0.0048 | 0 | c.924 others(5): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 10/13 | chr19 | TogoVar | ||||||
GIPR_chr19_45663221_45688722 | 45681600 | G | A | splice_region_variant others(1): Show |
LOW | HG02809.hp1 | a0010 | a0010c0012 | a0010c0012t0027 | a0010c0012t0027g0059 | 1 | 416 | 0.0024 | 0 | c.115 others(6): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 12/13 | chr19 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48958722 | G | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 406 | 0.0025 | 0 | c.453 others(5): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 5/5 | chr17 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48964484 | G | C | splice_region_variant others(1): Show |
LOW | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 406 | 0.0025 | 0 | c.87- others(4): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
GIT1_chr17_29568475_29594648 | 29575283 | A | T | splice_region_variant others(1): Show |
LOW | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 400 | 0.0025 | 0 | c.200 others(6): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
GIT1_chr17_29568475_29594648 | 29577640 | C | G | splice_region_variant others(1): Show |
LOW | HG01433.hp1 HG02486.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0095a0001c0001t0002g0123a0001c0001t0011g0116 | 3 | 400 | 0.0075 | 0 | c.981 others(5): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 10/19 | chr17 | TogoVar | ||||||
GIT1_chr17_29568475_29594648 | 29581383 | G | A | splice_region_variant others(1): Show |
LOW | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 400 | 0.0025 | 0 | c.719 others(5): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
GIT2_chr12_109924804_110001368 | 109934092 | G | C | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00558.hp1 HG01109.hp1 others(35): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0012 | a0001c0003t0004a0001c0003t0007a0002c0002t0004others(3): Show | a0001c0003t0004g0041a0001c0003t0004g0042a0001c0003t0007g0034others(35): Show | 38 | 242 | 0.1570 | 0 | c.200 others(6): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 18/19 | chr12 | TogoVar | ||||||
GIT2_chr12_109924804_110001368 | 109939251 | C | T | splice_region_variant others(1): Show |
LOW | NA18946.hp2 NA18959.hp1 NA19001.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008a0002c0002t0004g0009a0002c0002t0004g0010others(5): Show | 8 | 242 | 0.0331 | 0 | c.173 others(6): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 16/19 | chr12 | TogoVar |