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 GROUPS:

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 CHR:

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VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 3

Genes:
FNDC7, SIK3, ZNF285,

+ Genes associated with diseases 1

Genes at Omim

SIK3,
SIK3 ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 92
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

FNDC7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 109275908 15092.1 C T . 0/1 1198 SYNONYMOUS_CODING LOW None None None None None None FNDC7|0.11879865|47.62%

SIK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 116820918 5770.24 C A . 0/1 621 None None None 0.02 0.00 None None None None None None SIK3|0.354918273|23.8%

ZNF285
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 44892009 8165.35 G A . 0/1 598 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.04 None None None None None None ZNF285|0.001247601|94.18%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 44892362 6018.64 A G . 0/1 1024 None None None None None None None None None ZNF285|0.001247601|94.18%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 17203024 34954.9 G A . 0/1 2746 None None None None None None None None None MYO9B|0.037345575|66.66%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 17193427 2674.65 C A . 0/1 216 None None None None None None None None None MYO9B|0.037345575|66.66%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 17192965 3092.25 T G . 0/1 281 None None None None None None None None None MYO9B|0.037345575|66.66%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 8404854 1908.06 C T . 0/1 183 None None None None None None None None None KANK3|0.009331751|81.43%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 18 . 60183864 3422.77 T C . 0/1 307 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 16 . 81280891 5321.85 C T . 1/1 177 None None None None None None None None None BCO1|0.044162038|64.47%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 16 . 53786615 222.327 T A . 0/1 16 None None None None None None None None None FTO|0.982020523|1.4%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 16 . 53782363 62516.9 C A . 0/1 4846 None None None None None None None None None FTO|0.982020523|1.4%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 16 . 53775335 15118.1 G A . 0/1 1215 None None None None None None None None None FTO|0.982020523|1.4%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 16 . 53769662 21975.7 T A . 0/1 1418 None None None None None None None None None FTO|0.982020523|1.4%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 16 . 53767042 25949.1 T C . 0/1 2015 None None None None None None None None None FTO|0.982020523|1.4%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 15 . 89667032 1244.09 A G . 0/1 119 None None None None None None None None None ABHD2|0.420280407|19.56%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 15 . 74749576 11585.8 C A . 1/1 374 None None None None None None None None None UBL7|0.307634665|27.04%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 15 rs576287344
dbSNP Clinvar 		74735539 24152.3 C T . 0/1 1812 None None None 0.00020 0.00020 None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 15 . 74727108 2133.1 C T . 0/1 419 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 15 . 58545811 22288.6 A G . 0/1 1809 None None None None None None None None None ALDH1A2|0.864934326|4.39%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 12 . 124777047 27498.3 C T . 0/1 2222 None None None None None None None None None FAM101A|0.033207483|68.06%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 12 . 111446804 80266.2 T C . 1/1 2613 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 12 . 109562388 388.522 C T . 0/1 20 None None None None None None None None None ACACB|0.108212697|49.54%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 12 . 47845054 426.041 C A . 1/1 15 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 116837304 45683.2 A G . 1/1 1499 None None None None None None None None None SIK3|0.354918273|23.8%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 116821618 2599.66 C T . 1/1 84 None None None None None None None None None SIK3|0.354918273|23.8%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 116792991 33825.5 G A . 1/1 1075 None None None None None None None None None SIK3|0.354918273|23.8%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 116791863 2304.17 C T . 1/1 88 None None None None None None None None None SIK3|0.354918273|23.8%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 116778201 313.848 G C . 1/1 11 None None None None None None None None None SIK3|0.354918273|23.8%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 92975544 6655.71 C G . 0/1 549 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 66560624 23523.9 C T . 0/1 1694 None None None None None None None None None C11orf80|0.023109956|72.63%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 61834531 18316.7 C G . 0/1 1575 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 61830500 14452.3 A G . 1/1 465 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 61829740 3756.81 C T . 0/1 285 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 61813163 1355.82 C T . 1/1 44 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 61803311 4932.23 T C . 1/1 163 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 61802358 23255.9 C T . 1/1 741 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 61785208 774.794 G T . 1/1 25 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 34438925 36021.2 A T . 1/1 1211 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 11 . 2160994 1101.25 A T . 1/1 37 None None None None None None None None None IGF2|0.012356922|79.01%,INS-IGF2|0.999990097|0.06%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 10 . 113049143 20445.5 G T . 1/1 673 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 10 . 112998590 3134.71 C T . 1/1 99 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 10 . 112994329 5531.65 T C . 1/1 182 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 10 . 89247603 8426.8 T G . 1/1 278 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 10 . 89243170 121787.0 C T . 1/1 3860 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 9 . 104902020 1305.32 C T . 0/1 114 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 8 . 58500365 24580.5 G T . 0/1 1919 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 8 . 58476006 4903.06 T C . 0/1 400 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 8 . 19962213 4162.76 C G . 0/1 308 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 7 . 150999023 10376.7 T G . 0/1 965 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 7 . 150992991 41263.4 C T . 0/1 3295 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 7 . 141972905 45569.7 G A . 1/1 1454 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 7 . 44539581 1346.52 G C . 0/1 175 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 7 . 22726602 9412.91 A G . 0/1 620 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 6 . 159692840 63.0559 A G . 0/1 14 None None None None None None None None None FNDC1|0.018012645|75.28%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 6 . 35411001 175220.0 C T . 1/1 5568 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 6 . 32619077 176.641 G A . 1/1 7 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 5 . 79126136 7892.09 G A . 0/1 1124 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 5 . 75360714 1075.06 T C . 1/1 42 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 5 . 75355259 2920.0 A G . 1/1 97 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 5 . 75352778 247889.0 A T . 1/1 7891 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 4 . 119320747 7937.28 T C . 1/1 263 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 4 . 99318162 31179.0 T C . 1/1 1047 None None None None None None None None None RAP1GDS1|0.562300559|13.28%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 4 . 71752606 72409.6 G T . 1/1 2325 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 4 . 71742666 1869.14 T G . 1/1 60 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 3 . 186853334 2632.93 G T . 1/1 86 None None None None None None None None None RPL39L|0.006980407|83.5%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 3 . 185811292 17590.2 A C . 0/1 1563 None None None None None None None None None ETV5|0.89499409|3.53%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 3 rs144494400
dbSNP Clinvar 		185793899 43648.9 G T . 0/1 3389 None None None 0.00020 0.00020 None None None None None None ETV5|0.89499409|3.53%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 3 . 12311699 11264.4 C G . 0/1 914 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 226795828 11752.7 C T . 0/1 984 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 203874196 1039.41 G A . 1/1 33 None None None None None None None None None WDR12|0.769967473|6.57%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 150929228 77147.4 C T . 0/1 5920 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 135798089 32436.4 T C . 0/1 2403 None None None None None None None None None MAP3K19|0.070109416|57.46%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 43846742 15051.5 T C . 1/1 474 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 43845437 4332.17 G T . 1/1 137 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 27508073 16756.5 T C . 0/1 1894 None None None None None None None None None TRIM54|0.193256696|37.5%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 21041028 29437.0 G A . 0/1 1657 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 2 . 21009323 545.224 G A . 0/1 55 None None None None None None None None None LDAH|0.015733816|76.62%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 230710048 22927.5 A G . 0/1 1981 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 179354603 4824.29 C A . 0/1 351 None None None None None None None None None AXDND1|0.018165173|75.2%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 161223893 730.494 G A . 0/1 66 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 113834946 74705.1 A G . 1/1 2389 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 109274968 4956.96 G T . 0/1 867 None None None None None None None None None FNDC7|0.11879865|47.62%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 65570758 35.0292 A G . 0/1 17 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 62560271 898.054 G T . 1/1 37 None None None None None None None None None INADL|0.105153826|50.2%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 55063514 11010.6 G A . 1/1 355 None None None None None None None None None ACOT11|0.083532045|54.52%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 55038977 13577.6 G A . 0/1 971 None None None None None None None None None ACOT11|0.083532045|54.52%
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 25442446 2734.61 A G . 0/1 199 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 21 . 42290799 16250.4 C G . 0/1 1361 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 1 . 18854899 6113.41 T C . 0/1 569 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 44919689 25621.1 A G . 0/1 1935 None None None None None None None None None None
View 193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps 19 . 44905579 18289.3 T G . 0/1 1354 None None None None None None None None None ZNF285|0.001247601|94.18%
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