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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(420): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 316 | 0.0032 | 427 | c.583 others(442): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(420): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 316 | 0.0032 | 427 | c.583 others(442): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(420): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 316 | 0.0032 | 427 | c.583 others(442): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(420): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0141 | 1 | 316 | 0.0032 | 427 | c.583 others(442): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471609 | A | ATTTATAT others(420): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 260 | 0.0039 | 427 | c.125 others(444): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504144 | C | CCCCCCCC others(420): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0018 | a0001c0018t0005 | a0001c0018t0005g0175 | 1 | 414 | 0.0024 | 427 | c.171 others(444): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909274 | T | TATATATA others(420): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 316 | 0.0032 | 427 | c.622 others(442): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRC23_chr12_6899822_6919229 | 6909276 | T | TATATAAT others(420): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 316 | 0.0032 | 427 | c.622 others(442): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCCCCCC others(420): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03704.hp1 |
a0001a0013 | a0001c0012a0013c0019 | a0001c0012t0001a0013c0019t0001 | a0001c0012t0001g0060 a0013c0019t0001g0086 |
2 | 246 | 0.0081 | 427 | c.171 others(444): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCCCCCC others(420): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0045 | a0045c0045 | a0045c0045t0001 | a0045c0045t0001g0100 | 1 | 246 | 0.0041 | 427 | c.171 others(444): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(420): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0122 | 1 | 152 | 0.0066 | 427 | c.342 others(446): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBTPS1_chr16_84048763_84121942 | 84051816 | C | CCGCATGT others(420): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0090 | 1 | 424 | 0.0024 | 427 | c.*26 others(438): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 1946 | chr16 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543265 | T | TGGGGACA others(420): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 286 | 0.0035 | 427 | c.153 others(444): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AGGGAGGA others(420): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03669.hp1 HG04228.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0176 a0001c0001t0004g0134 a0001c0001t0004g0181 others(5): Show |
8 | 250 | 0.0320 | 427 | c.225 others(444): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537575 | T | TGTCCGGG others(420): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 256 | 0.0039 | 427 | c.241 others(446): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537575 | T | TGTCCGGG others(420): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18951.hp2 NA18952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037 a0001c0001t0002g0029 a0001c0001t0002g0042 others(2): Show |
5 | 256 | 0.0195 | 427 | c.241 others(446): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(420): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 388 | 0.0026 | 427 | c.159 others(444): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767629 | A | AGGGGCGC others(420): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0039 | a0039c0073 | a0039c0073t0001 | a0039c0073t0001g0027 | 1 | 388 | 0.0026 | 427 | c.159 others(444): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(420): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19054.hp2 NA19063.hp1 |
a0001a0010 | a0001c0001a0010c0009 | a0001c0001t0001a0010c0009t0002 | a0001c0001t0001g0028 a0001c0001t0001g0038 a0010c0009t0002g0017 |
3 | 284 | 0.0106 | 427 | c.710 others(444): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2083743 | G | GCTTAGAG others(420): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0096 | 1 | 104 | 0.0096 | 427 | c.-30 others(448): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 3/24 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(420): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0008 | a0008c0019 | a0008c0019t0003 | a0008c0019t0003g0205 | 1 | 362 | 0.0028 | 427 | c.-75 others(446): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(420): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 362 | 0.0028 | 427 | c.-75 others(446): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(420): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 356 | 0.0028 | 427 | c.91+ others(440): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(420): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0191 | 1 | 344 | 0.0029 | 427 | c.154 others(444): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(420): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001a0008a0013 | a0001c0003a0008c0028a0013c0036 | a0001c0003t0002a0008c0028t0002a0013c0036t0002 | a0001c0003t0002g0140 a0001c0003t0002g0233 a0001c0003t0002g0234 others(5): Show |
8 | 308 | 0.0260 | 427 | c.730 others(444): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841381 | T | TGCATCTC others(420): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0197 | 1 | 242 | 0.0041 | 427 | c.361 others(446): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841420 | C | CGCATCTC others(420): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0151 | 1 | 242 | 0.0041 | 427 | c.361 others(446): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(420): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 242 | 0.0041 | 427 | c.361 others(446): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401808 | G | GGCCCCGC others(420): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0156 | 1 | 216 | 0.0046 | 427 | c.173 others(446): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291614 | G | GGGGGACG others(420): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 354 | 0.0028 | 427 | c.-27 others(436): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 212 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291614 | G | GGGGGACG others(420): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 354 | 0.0028 | 427 | c.-27 others(436): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 212 | chr19 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099662 | A | AGCAGCCC others(420): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 67 | 0.0149 | 427 | c.56- others(444): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RGPD5_chr2_109789305_109862705 | 109794573 | A | ACCCGGCC others(420): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 40 | 0.0250 | 427 | c.72+ others(438): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3310279 | T | TGGGGGAG others(420): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0036 | 1 | 312 | 0.0032 | 427 | c.-10 others(446): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924282 | T | TTCACACC others(420): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01361.hp1 HG01975.hp1 |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0002a0002c0003t0004a0002c0004t0005 | a0001c0002t0002g0149 a0002c0003t0004g0055 a0002c0004t0005g0139 |
3 | 276 | 0.0109 | 427 | c.58- others(444): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7678970 | T | TTATATAT others(420): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02717.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0295 a0001c0001t0005g0001 a0001c0001t0005g0296 |
5 | 308 | 0.0162 | 427 | c.-75 others(446): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679000 | T | TATATTTA others(420): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 308 | 0.0033 | 427 | c.-75 others(446): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 217432 | G | GCTAAAAT others(420): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03017.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0124 a0001c0001t0005g0017 a0001c0001t0010g0129 |
3 | 133 | 0.0226 | 427 | c.728 others(444): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(420): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 133 | 0.0075 | 427 | c.351 others(446): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934567 | C | CGGGGGGG others(420): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0007 | a0006c0007t0008 | a0006c0007t0008g0279 | 1 | 434 | 0.0023 | 427 | c.843 others(444): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668443 | T | TACCCTCC others(420): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0012 | a0003c0012t0004 | a0003c0012t0004g0038 | 1 | 262 | 0.0038 | 427 | c.249 others(446): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668443 | T | TACCCTCC others(420): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0130 | 1 | 262 | 0.0038 | 427 | c.249 others(446): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971057 | G | GGAGCTGA others(420): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0162 a0001c0003t0002g0164 |
2 | 384 | 0.0052 | 427 | c.157 others(446): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(420): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0016 | a0016c0021 | a0016c0021t0008 | a0016c0021t0008g0271 | 1 | 290 | 0.0035 | 427 | c.464 others(440): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339807 | C | CACGCTCC others(420): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0254 | 1 | 280 | 0.0036 | 427 | c.89- others(440): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401808 | G | GGCCCCGC others(420): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 242 | 0.0041 | 427 | c.*40 others(438): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3907 | chr11 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(420): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 314 | 0.0032 | 427 | c.209 others(444): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(420): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0093 a0001c0001t0002g0217 a0001c0001t0006g0215 others(1): Show |
4 | 314 | 0.0127 | 427 | c.209 others(444): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(420): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 314 | 0.0032 | 427 | c.209 others(444): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(420): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 314 | 0.0032 | 427 | c.209 others(444): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar |