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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 8

+ Genes associated with diseases 7

Genes at Omim

IL10RA, IL1RN, MEFV, MVK, NLRP3, NOD2, PLCG2,
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
NLRP3 CINCA syndrome, 607115 (3)
Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)
Familial cold inflammatory syndrome 1, 120100 (3)
Keratoendothelitis fugax hereditaria, 148200 (3)
Muckle-Wells syndrome, 191900 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)

Genes at Clinical Genomics Database

IL10RA, IL10RB, IL1RN, MEFV, MVK, NLRP3, NOD2, PLCG2,
IL10RA Inflammatory bowel disease 28, autosomal recessive
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
MEFV Familial Mediterranean fever
MVK Mevalonic aciduria
Hyper-IgD syndrome
NLRP3 Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Muckle-Wells syndrome
NOD2 Blau syndrome
Sarcoidosis, early-onset
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)

Genes at HGMD

Summary

Number of Variants: 148
Number of Genes: 8

Export to: CSV
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 Y rs9786184
dbSNP Clinvar 		2887824 22933.1 A C PASS 1/1 2297 None None None 0.82563 0.82560 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs370672
dbSNP Clinvar 		2448146 8181.39 G A PASS 0/1 5133 None None None 0.47824 0.47820 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs148080283,rs11283037
dbSNP Clinvar 		2448060 6559.63 C CG... PASS 0/1 5257 None None None 0.12220 0.12220 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs6555108
dbSNP Clinvar 		2448160 39824.4 A G PASS 1/1 5174 None None None 0.56709 0.56710 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs438055
dbSNP Clinvar 		2448052 7865.3 A G PASS 0/1 5247 None None None 0.30631 0.30630 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs4919921
dbSNP Clinvar 		43062771 34075.9 T C PASS 1/1 3438 None None None 0.36302 0.51840 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 . 34660653 524.377 A G PASS 0/1 450 None None None None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2838082
dbSNP Clinvar 		43062929 7713.01 A G PASS 0/1 3591 None None None 0.24681 0.24680 None None None None None None None

IL10RB
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2834167
dbSNP Clinvar 		34640788 7006.51 A G PASS 0/1 3200 NON_SYNONYMOUS_CODING MODERATE None 0.33946 0.33950 0.21452 0.05 0.39 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2239573
dbSNP Clinvar 		34638859 160.495 G A PASS 0/1 89 None None None 0.61981 0.61980 0.33268 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2838083
dbSNP Clinvar 		43063044 7068.79 A G PASS 0/1 3435 None None None 0.48722 0.48720 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2838081
dbSNP Clinvar 		43062859 8302.64 G A PASS 0/1 3617 None None None 0.43231 0.43230 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs432014
dbSNP Clinvar 		113888579 632.131 T C PASS 0/1 36 None None None 0.22105 0.22100 0.23658 None None None None None None None

IL1RN
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs315952
dbSNP Clinvar 		113890304 8695.13 T C PASS 0/1 3461 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.33315 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs315951
dbSNP Clinvar 		113890586 4461.9 C G PASS 0/1 1811 None None None 0.35503 0.35500 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs451578
dbSNP Clinvar 		113888557 310.522 G A PASS 0/1 35 None None None 0.19469 0.19470 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs454078
dbSNP Clinvar 		113888793 432.024 A T PASS 0/1 25 None None None 0.19090 0.19090 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs12617010
dbSNP Clinvar 		228092459 5760.64 C A PASS 0/1 2741 None None None 0.31530 0.31530 None None None None None None COL4A3|0.119573089|47.51%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs6756898
dbSNP Clinvar 		228092406 27767.0 C T PASS 1/1 2795 None None None 0.67153 0.67150 None None None None None None COL4A3|0.119573089|47.51%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs6714835
dbSNP Clinvar 		228092389 6406.2 T G PASS 0/1 2782 None None None 0.31769 0.31770 None None None None None None COL4A3|0.119573089|47.51%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs6728149
dbSNP Clinvar 		228092334 27329.5 A G PASS 1/1 2741 None None None 0.70387 0.70390 None None None None None None COL4A3|0.119573089|47.51%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs2234677
dbSNP Clinvar 		113875509 5859.06 G A PASS 0/1 2981 None None None 0.18650 0.18650 0.20587 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs2234678
dbSNP Clinvar 		113875565 5922.88 A G PASS 0/1 2955 None None None 0.18590 0.18590 0.19806 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs2234679
dbSNP Clinvar 		113875584 5849.76 G C PASS 0/1 2942 None None None 0.18590 0.18590 0.19822 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs16065
dbSNP Clinvar 		113875631 5615.53 T C PASS 0/1 2936 None None None 0.18570 0.18570 0.19399 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs4251986
dbSNP Clinvar 		113877538 7525.59 G C PASS 0/1 3775 None None None 0.18750 0.18750 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs878972
dbSNP Clinvar 		113877713 7608.03 A C PASS 0/1 3806 None None None 0.18970 0.18970 0.19899 None None None None None None None

IL1RN
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs419598
dbSNP Clinvar 		113887207 9954.87 T C PASS 0/1 3115 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.20614 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs423904
dbSNP Clinvar 		113887262 9991.64 C T PASS 0/1 3180 None None None 0.19169 0.19170 0.20606 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs446433
dbSNP Clinvar 		113887273 9853.9 G A PASS 0/1 3222 None None None 0.19169 0.19170 0.20583 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs495282
dbSNP Clinvar 		113887294 9681.12 G C PASS 0/1 3199 None None None 0.19169 0.19170 0.21397 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs495410
dbSNP Clinvar 		113887338 9827.62 A C PASS 0/1 3188 None None None 0.19169 0.19170 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs442710
dbSNP Clinvar 		113887399 9727.84 G A PASS 0/1 2860 None None None 0.19169 0.19170 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 19 rs2361019
dbSNP Clinvar 		22729613 8769.94 T A PASS 0/1 4398 None None None 0.49621 0.49620 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 18 . 76089760 22.237 T A PASS 0/1 1657 None None None None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs16956011
dbSNP Clinvar 		81970353 7097.92 G A PASS 0/1 3116 None None None 0.20707 0.20710 None None None None None None PLCG2|0.32771221|25.64%

MEFV
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224224
dbSNP Clinvar 		3304654 2596.15 T C PASS 0/1 1239 SYNONYMOUS_CODING LOW None 0.38658 0.38660 0.46637 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224225
dbSNP Clinvar 		3304762 1762.63 A G PASS 0/1 957 SYNONYMOUS_CODING LOW None 0.38938 0.38940 0.47631 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3135500
dbSNP Clinvar 		50766886 21796.1 G A PASS 1/1 2212 None None None 0.35224 0.35220 None None None None None None NOD2|0.13707172|44.87%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 81887937 28168.2 AT A,AC PASS 2/2 2845 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4072830
dbSNP Clinvar 		81887957 27842.4 A C PASS 1/1 2856 None None None 0.23782 0.23780 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs34028338
dbSNP Clinvar 		81887977 6384.93 G C PASS 0/1 2883 None None None 0.07628 0.07628 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4888183
dbSNP Clinvar 		81892708 2477.68 T A PASS 0/1 931 None None None 0.54113 0.54110 0.44304 None None None None None None PLCG2|0.32771221|25.64%

PLCG2
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1143686
dbSNP Clinvar 		81888152 31928.1 A G PASS 1/1 3194 SYNONYMOUS_CODING LOW None 0.21206 0.21210 0.25572 None None None None None None PLCG2|0.32771221|25.64%
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4072828
dbSNP Clinvar 		81888237 31127.3 G C PASS 1/1 3112 None None None 0.20927 0.20930 0.25417 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4341734
dbSNP Clinvar 		81891998 9600.8 G C PASS 0/1 3287 None None None 0.70827 0.70830 0.24650 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs533300322
dbSNP Clinvar 		81892635 2507.63 G C PASS 0/1 931 None None None 0.00060 0.00060 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs545254533
dbSNP Clinvar 		81892890 2521.51 A C PASS 0/1 936 None None None 0.00080 0.00080 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs41309272
dbSNP Clinvar 		81892895 1679.46 C T PASS 0/1 934 None None None 0.13498 0.13500 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7202250
dbSNP Clinvar 		81902570 39761.2 T C PASS 1/1 5250 None None None 0.52836 0.52840 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4889420
dbSNP Clinvar 		81903055 29374.9 G A PASS 1/1 2964 None None None 0.51198 0.51200 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs12448130
dbSNP Clinvar 		81953081 29505.8 T C PASS 1/1 2964 None None None 0.98862 0.98860 0.01157 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7195281
dbSNP Clinvar 		81902600 39973.2 G C PASS 1/1 5299 None None None 0.51238 0.51240 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs759945547
dbSNP Clinvar 		81902714 8172.95 GCT G PASS 0/1 5160 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs56070867
dbSNP Clinvar 		81902763 8278.69 A G PASS 0/1 5134 None None None 0.08986 0.08986 0.09593 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs12445580
dbSNP Clinvar 		81902797 39584.1 A G PASS 1/1 9183 None None None 0.51298 0.51300 0.44693 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs35039495
dbSNP Clinvar 		81904375 39547.7 C T PASS 1/1 4101 None None None 0.51060 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs34761601,rs796875211
dbSNP Clinvar 		81904433 39563.5 TG T PASS 1/1 4215 None None None 0.51158 0.51160 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs73594838
dbSNP Clinvar 		81904638 8478.51 T C PASS 0/1 4006 None None None 0.04393 0.04393 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7192509
dbSNP Clinvar 		81904674 37609.6 T C PASS 1/1 3781 None None None 0.51258 0.51260 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 81914669 123.539 G A PASS 0/1 1336 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs9929503
dbSNP Clinvar 		81959982 4684.49 C G PASS 0/1 1886 None None None 0.67492 0.67490 None None None None None None PLCG2|0.32771221|25.64%

PLCG2
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1143688
dbSNP Clinvar 		81929488 1727.6 C T PASS 0/1 674 SYNONYMOUS_CODING LOW None 0.40655 0.40650 0.28848 None None None None None None PLCG2|0.32771221|25.64%
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs6564933
dbSNP Clinvar 		81934047 3539.39 T C PASS 0/1 1662 None None None 0.67213 0.67210 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4435248
dbSNP Clinvar 		81939150 27309.2 G C PASS 1/1 2745 None None None 0.79553 0.79550 0.25360 None None None None None None PLCG2|0.32771221|25.64%

PLCG2
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1143689
dbSNP Clinvar 		81941319 28243.4 C T PASS 1/1 2878 SYNONYMOUS_CODING LOW None 0.77496 0.77500 0.27748 None None None None None None PLCG2|0.32771221|25.64%
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs71400183
dbSNP Clinvar 		81941444 6405.2 C T PASS 0/1 2876 None None None 0.19149 0.19150 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4306504
dbSNP Clinvar 		81946714 3667.08 T C PASS 0/1 1745 None None None 0.52816 0.52820 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 81953339 2534.88 T C PASS 0/1 2781 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs757127641
dbSNP Clinvar 		81954789 9248.3 CT C,GT PASS 1/2 2847 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs16955980
dbSNP Clinvar 		81957303 2933.21 T G PASS 0/1 1242 None None None 0.00040 0.00040 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7201045
dbSNP Clinvar 		81959952 5109.52 A G PASS 0/1 2013 None None None 0.75939 0.75940 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4889442
dbSNP Clinvar 		81961873 4582.57 G T PASS 0/1 2016 None None None 0.67013 0.67010 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4366702
dbSNP Clinvar 		81962071 4797.33 A C PASS 0/1 2060 None None None 0.00180 0.68890 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3934955
dbSNP Clinvar 		81970366 7014.63 A C PASS 0/1 3117 None None None 0.52955 0.52960 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3934956
dbSNP Clinvar 		81970407 6746.74 C T PASS 0/1 3103 None None None 0.52117 0.52120 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs62044947
dbSNP Clinvar 		81970448 6738.38 C T PASS 0/1 3069 None None None 0.20627 0.20630 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3934957
dbSNP Clinvar 		81970471 6817.86 C G PASS 0/1 3058 None None None 0.46166 0.46170 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4073828
dbSNP Clinvar 		81970495 6680.91 A G PASS 0/1 3048 None None None 0.53874 0.53870 None None None None None None PLCG2|0.32771221|25.64%

PLCG2
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1071644
dbSNP Clinvar 		81971403 4828.85 T C PASS 0/1 2252 SYNONYMOUS_CODING LOW None 0.31390 0.31390 0.40560 None None None None None None PLCG2|0.32771221|25.64%
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4258608
dbSNP Clinvar 		81971582 3988.44 A G PASS 0/1 1839 None None None 0.37001 0.37000 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4405546
dbSNP Clinvar 		81973474 35026.8 C A PASS 1/1 3515 None None None 0.92213 0.92210 0.08457 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224204
dbSNP Clinvar 		3296429 5652.63 G A PASS 0/1 2829 None None None 0.45407 0.45410 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs2741918
dbSNP Clinvar 		3292874 2553.9 C T PASS 0/1 1324 None None None 0.64617 0.64620 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs2741919
dbSNP Clinvar 		3292896 2453.75 C T PASS 0/1 1273 None None None 0.63978 0.63980 None None None None None None None

MEFV
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1231122
dbSNP Clinvar 		3293888 2427.96 C T PASS 0/1 867 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35363 0.35360 0.42358 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1231123
dbSNP Clinvar 		3293922 2284.2 A T PASS 0/1 895 None None None 0.31130 0.31130 0.40565 0.43 0.63 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1231124
dbSNP Clinvar 		3294678 3814.51 G A PASS 0/1 1907 None None None 0.35324 0.35320 None None None None None None None

MEFV
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224223
dbSNP Clinvar 		3304573 1116.13 G T PASS 0/1 289 SYNONYMOUS_CODING LOW None 0.38638 0.38640 0.46697 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224205
dbSNP Clinvar 		3296616 5579.86 C T PASS 0/1 2787 None None None 0.45407 0.45410 0.43999 None None None None None None None

MEFV
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224206
dbSNP Clinvar 		3297073 7225.8 A G PASS 0/1 3128 SYNONYMOUS_CODING LOW None 0.66314 0.66310 0.41581 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224207
dbSNP Clinvar 		3297175 8548.43 T C PASS 0/1 3790 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65056 0.65060 0.43143 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224208
dbSNP Clinvar 		3297181 8484.84 C T PASS 0/1 3783 SYNONYMOUS_CODING LOW None 0.63898 0.63900 0.43343 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224212
dbSNP Clinvar 		3298865 5202.09 T C PASS 0/1 1941 None None None 0.66114 0.66110 0.41619 None None None None None None None

MEFV
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224213
dbSNP Clinvar 		3299749 3094.66 G A PASS 0/1 1421 SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.40434 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 3304411 1457.75 GC G PASS 1/1 245 FRAME_SHIFT HIGH None None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224222
dbSNP Clinvar 		3304463 1202.82 C T PASS 0/1 297 NON_SYNONYMOUS_CODING MODERATE None 0.13598 0.13600 0.18032 0.67 0.00 None None None None None None None
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 abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3135499
dbSNP Clinvar 		50766127 25038.4 A C PASS 1/1 2483 None None None 0.35823 0.35820 None None None None None None NOD2|0.13707172|44.87%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224227
dbSNP Clinvar 		3307566 3517.84 A G PASS 0/1 1487 None None None 0.76717 0.76720 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224228
dbSNP Clinvar 		3307719 14693.3 C G PASS 1/1 1479 None None None 1.00000 1.00000 None None None None None None None