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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM14_chr4_39541336_39643865 | 39578080 | TA | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0106others(56): Show | 59 | 344 | 0.1715 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39579410 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0046a0001c0001t0001g0102a0001c0001t0001g0103others(206): Show | 209 | 344 | 0.6076 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39581873 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0002g0023others(74): Show | 77 | 344 | 0.2238 | -1 | c.76- others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39584481 | CA | C | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG02015.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0121a0001c0001t0004g0286a0001c0001t0007g0015others(3): Show | 6 | 344 | 0.0174 | -1 | c.76- others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39584793 | CA | C | intron_variant | MODIFIER | HG00609.hp1 HG01169.hp2 HG01243.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0198a0001c0001t0002g0051a0001c0001t0003g0129others(20): Show | 23 | 344 | 0.0669 | -1 | c.76- others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39587495 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0103a0001c0001t0001g0106a0001c0001t0001g0110others(70): Show | 73 | 344 | 0.2122 | -1 | c.76- others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39590022 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp2 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0142a0001c0001t0001g0173a0001c0001t0001g0176others(78): Show | 81 | 344 | 0.2355 | -1 | c.75+ others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39590801 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0106others(58): Show | 61 | 344 | 0.1773 | -1 | c.75+ others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39592029 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(114): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0002g0023others(114): Show | 117 | 344 | 0.3401 | -1 | c.75+ others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39592267 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01943.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0111a0001c0001t0001g0114a0001c0001t0001g0119others(11): Show | 14 | 344 | 0.0407 | -1 | c.75+ others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39597082 | TC | T | intron_variant | MODIFIER | HG00323.hp2 HG02273.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0030others(1): Show | a0001c0001t0002g0049a0001c0001t0002g0061a0001c0001t0002g0152others(5): Show | 8 | 344 | 0.0233 | -1 | c.75+ others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39597085 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01496.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0145a0001c0001t0001g0255a0001c0001t0004g0143others(12): Show | 15 | 344 | 0.0436 | -1 | c.75+ others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39597438 | AT | A | intron_variant | MODIFIER | HG00323.hp2 NA18962.hp2 NA19002.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0173a0001c0001t0001g0219a0001c0001t0002g0152others(3): Show | 6 | 344 | 0.0174 | -1 | c.75+ others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39599933 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(168): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0046a0001c0001t0001g0145a0001c0001t0001g0160others(168): Show | 171 | 344 | 0.4971 | -1 | c.75+ others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39601959 | AC | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00642.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0111a0001c0001t0001g0179a0001c0001t0001g0198others(35): Show | 38 | 344 | 0.1105 | -1 | c.75+ others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39602246 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00733.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0046a0001c0001t0001g0287a0001c0001t0001g0288others(58): Show | 61 | 344 | 0.1773 | -1 | c.75+ others(8): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39610696 | TA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01256.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0152a0001c0001t0004g0272a0001c0001t0005g0149others(3): Show | 6 | 344 | 0.0174 | -1 | c.-35 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39612567 | TG | T | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292a0001c0001t0001g0299a0001c0001t0001g0312 | 3 | 344 | 0.0087 | -1 | c.-35 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39612665 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0179a0001c0001t0001g0198a0001c0001t0001g0199others(75): Show | 78 | 344 | 0.2267 | -1 | c.-35 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39614185 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(225): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0106others(225): Show | 228 | 344 | 0.6628 | -1 | c.-35 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39615096 | GT | G | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0027others(1): Show | a0001c0001t0006g0086a0001c0001t0006g0087a0001c0001t0006g0088others(6): Show | 9 | 344 | 0.0262 | -1 | c.-35 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39616375 | AC | A | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0279a0001c0001t0004g0009a0001c0001t0004g0010others(17): Show | 20 | 344 | 0.0581 | -1 | c.-35 others(10): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39618649 | CA | C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0027others(1): Show | a0001c0001t0006g0086a0001c0001t0006g0087a0001c0001t0006g0088others(6): Show | 9 | 344 | 0.0262 | -1 | c.-35 others(10): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39620179 | GA | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0292a0001c0001t0001g0312a0001c0001t0002g0001others(75): Show | 78 | 344 | 0.2267 | -1 | c.-35 others(10): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39621331 | GA | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0002g0023others(70): Show | 73 | 344 | 0.2122 | -1 | c.-35 others(10): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39621686 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG01169.hp1 HG01192.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0288a0001c0001t0002g0059a0001c0001t0002g0076others(18): Show | 21 | 344 | 0.0611 | -1 | c.-35 others(10): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39631331 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(242): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0106others(242): Show | 245 | 344 | 0.7122 | -1 | c.-36 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39631502 | CA | C | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0029 | a0001c0001t0006g0086a0001c0001t0006g0087a0001c0001t0006g0088others(5): Show | 8 | 344 | 0.0233 | -1 | c.-36 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39632478 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0046a0001c0001t0001g0288a0001c0001t0002g0001others(84): Show | 87 | 344 | 0.2529 | -1 | c.-36 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39632826 | CA | C | intron_variant | MODIFIER | HG02300.hp2 HG04204.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0021 | a0001c0001t0002g0040a0001c0001t0005g0321a0001c0001t0021g0002 | 3 | 344 | 0.0087 | -1 | c.-36 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39636173 | CA | C | intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01192.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0021a0001c0001t0002g0023a0001c0001t0002g0028others(22): Show | 25 | 344 | 0.0727 | -1 | c.-36 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39636708 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(172): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0106others(172): Show | 175 | 344 | 0.5087 | -1 | c.-36 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39637599 | GA | G | intron_variant | MODIFIER | HG01169.hp1 HG01255.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0006a0001c0001t0003g0335a0001c0001t0004g0004others(5): Show | 8 | 344 | 0.0233 | -1 | c.-36 others(9): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39639935 | TC | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00609.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0046a0001c0001t0001g0179a0001c0001t0001g0198others(53): Show | 56 | 344 | 0.1628 | -1 | c.-12 others(6): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1071 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39640987 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(133): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0131a0001c0001t0001g0288a0001c0001t0001g0292others(133): Show | 136 | 344 | 0.3954 | -1 | c.-22 others(6): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2123 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39642284 | GT | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0046a0001c0001t0001g0110a0001c0001t0001g0111others(95): Show | 98 | 344 | 0.2849 | -1 | c.-35 others(6): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 3420 | chr4 | TogoVar | ||||||
SMIM15_chr5_61152704_61167468 | 61156428 | AT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0007g0007a0001c0001t0007g0015a0001c0001t0007g0046others(11): Show | 29 | 366 | 0.0792 | -1 | c.*35 others(6): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 1275 | chr5 | TogoVar | ||||||
SMIM15_chr5_61152704_61167468 | 61158574 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0010a0001c0001t0012others(8): Show | a0001c0001t0007g0007a0001c0001t0007g0015a0001c0001t0007g0046others(14): Show | 34 | 366 | 0.0929 | -1 | c.*13 others(6): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 3/3 | 1372 | chr5 | TogoVar | |||||
SMIM15_chr5_61152704_61167468 | 61164757 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(207): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0034others(42): Show | 210 | 366 | 0.5738 | -1 | c.-27 others(6): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 2290 | chr5 | TogoVar | ||||||
SMIM15_chr5_61152704_61167468 | 61164951 | TG | T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02622.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0007g0015a0001c0001t0010g0065a0001c0001t0012g0064others(2): Show | 8 | 366 | 0.0219 | -1 | c.-29 others(6): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 2484 | chr5 | TogoVar | ||||||
SMIM15_chr5_61152704_61167468 | 61165062 | CT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01517.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0003g0003a0001c0001t0007g0015a0001c0001t0010g0014others(4): Show | 11 | 366 | 0.0301 | -1 | c.-30 others(6): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 2595 | chr5 | TogoVar | ||||||
SMIM15_chr5_61152704_61167468 | 61166935 | CA | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0019 | a0001c0001t0003g0003a0001c0001t0013g0016a0001c0001t0019g0032others(1): Show | 8 | 366 | 0.0219 | -1 | c.-48 others(6): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 4468 | chr5 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56639067 | TG | T | upstream_gene_variant | MODIFIER | HG03209.hp2 HG03486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0036 | a0001c0001t0004g0063a0001c0001t0006g0020a0001c0001t0036g0105 | 3 | 418 | 0.0072 | -1 | c.-42 others(6): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 4091 | chr19 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56646523 | AG | A | intron_variant | MODIFIER | HG01123.hp2 HG03041.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033a0001c0001t0006g0070 | 3 | 418 | 0.0072 | -1 | c.169 others(8): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SMIM17_chr19_56638159_56662247 | 56652101 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0015a0001c0001t0002g0022a0001c0001t0002g0038others(22): Show | 46 | 418 | 0.1101 | -1 | c.247 others(9): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SMIM17_chr19_56638159_56662247 | 56654676 | GA | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0197a0001c0001t0012g0199a0001c0001t0012g0200others(1): Show | 4 | 418 | 0.0096 | -1 | c.247 others(8): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56658673 | CA | C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01169.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0003a0001c0001t0002g0010a0001c0001t0002g0017others(8): Show | 11 | 418 | 0.0263 | -1 | c.*34 others(6): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 1427 | chr19 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56658696 | AG | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0002a0001c0001t0004g0055a0001c0001t0004g0173others(2): Show | 16 | 418 | 0.0383 | -1 | c.*34 others(6): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 1450 | chr19 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56658700 | GA | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0055a0001c0001t0004g0173others(1): Show | 20 | 418 | 0.0479 | -1 | c.*34 others(6): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 1454 | chr19 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56658704 | GA | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01168.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0002g0183a0001c0001t0006g0020a0001c0001t0006g0030others(15): Show | 24 | 418 | 0.0574 | -1 | c.*34 others(6): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 1458 | chr19 | TogoVar |