ADDRESS: structure-oriented database of disease-assiciated and benign mutations in human

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ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.

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Protein in yellow; ligands (excluding water) in magenta; residues for disease-associated mutations in red; residues for benign mutations in blue. Table is sorted by UniProt accession.

#	UniProt accession (Gene in neXtProt)	PDB ID	Mutation on UniProt sequence	Residue index in PDB	dbSNP ID	Contact numbers	EvoEF free energy change (ΔΔG)	FoldX free energy change (ΔΔG)	Disease association (disease symbol) [OMIM ID]
3401	Q9NWZ3 (IRAK4)	2NRU:A	G298D M355V H390R R391H A428T	298 355 390 391 428	rs568782766 rs142376871 rs4251583 rs55944915 rs4251545	4 5 0 5 3	2.97 1.06 -1.56 2.41 -0.24	5.82 1.23 -0.49 3.77 0.43	Disease(IRAK4D)[MIM:607676 ] Benign Benign Benign Benign
3402	Q9NX46 (ADPRS)	6D36:A	T79P E209K V335G	79 209 335	- rs2236387 rs201735454	4 1 2	1.51 -0.08 2.83	0.33 0.41 4.31	Disease(CONDSIAS)[MIM:618170 ] Benign Disease(CONDSIAS)[MIM:618170 ]
3403	Q9NX55 (HYPK)	6C95:D	S105P	105	rs12702	2	-0.43	-0.83	Benign
3404	Q9NXA8 (SIRT5)	5BWL:A	F285L	285	rs9464003	4	1.05	1.79	Benign
3405	Q9NXN4 (GDAP2)	4UML:A	P95R G106S	95 106	rs12752437 rs12753610	0 3	-0.21 0.24	1.38 0.60	Benign Benign
3406	Q9NXS2 (QPCTL)	3PB4:X	P214L	214	rs28708996	3	-0.89	-0.23	Benign
3407	Q9NY25 (CLEC5A)	2YHF:A	R141H	141	rs35942193	8	1.86	2.30	Benign
3408	Q9NY33 (DPP3)	3FVY:A	R76H Q145H R678H E690K	76 145 678 690	rs11826683 rs11550299 rs2305535 rs12421620	4 1 6 1	1.01 -0.01 0.96 -0.64	-0.39 0.35 2.00 -2.02	Benign Benign Benign Benign
3409	Q9NY56 (OBP2A)	4RUN:A	N61K G130A P133S M159T	46 115 118 144	rs3180357 rs55695858 rs3178137 rs2853652	5 4 2 3	0.10 0.64 0.55 0.34	-1.15 0.45 2.84 1.49	Benign Benign Benign Benign
3410	Q9NY72 (SCN3B)	4L1D:A	S97N	73	rs35174956	1	0.20	1.32	Benign
3411	Q9NYB0 (TERF2IP)	3K6G:A	K324E	324	rs4888444	0	0.05	0.58	Benign
3412	Q9NYG8 (KCNK4)	3UM7:A	A172E A244P	198 270	- -	0 3	-0.29 0.10	0.04 1.42	Disease(FHEIG)[MIM:618381 ] Disease(FHEIG)[MIM:618381 ]
3413	Q9NYL2 (MAP3K20)	5HES:A	T267M A281V	267 281	rs6758025 rs34683477	0 0	-0.17 -1.03	0.25 0.06	Benign Benign
3414	Q9NYY1 (IL20)	4DOH:A	R107Q	107	rs35856950	2	0.35	0.35	Benign
3415	Q9NYY3 (PLK2)	4RS6:A	P487L	487	rs55645589	3	-0.85	1.54	Benign
3416	Q9NZ08 (ERAP1)	3QNF:A	E56K R127P I276M G346D M349V K528R D575G D575N R725Q Q730E	56 127 276 346 349 528 575 575 725 730	rs3734016 rs26653 rs26618 rs27895 rs2287987 rs30187 rs6863093 rs10050860 rs17482078 rs27044	0 0 5 1 4 4 0 0 6 2	-0.19 -0.39 0.69 -0.65 0.58 -1.13 0.30 -0.65 -0.56 -0.69	0.27 -1.83 0.12 0.23 1.94 -0.31 -0.01 0.00 -1.22 -0.20	Benign Benign Benign Benign Benign Benign Benign Benign Benign Benign
3417	Q9NZ52 (GGA3)	1JPL:A	K132R	132	rs117805695	4	-1.32	1.30	Benign
3418	Q9NZA1 (CLIC5)	6Y2H:A	P257H	98	rs35822882	1	0.31	2.16	Benign
3419	Q9NZC2 (TREM2)	5UD7:A	Y38C R62H T66M D87N T96K T96R V126G	38 62 66 87 96 96 126	rs797044603 rs143332484 rs201258663 rs142232675 rs2234253 rs2234253 rs121908402	9 3 5 3 4 4 5	2.03 0.44 0.21 -0.26 -0.02 -0.42 2.70	4.31 0.04 -0.62 -0.16 -0.02 0.33 5.53	Benign Benign Benign Benign Benign Benign Disease(PLOSL2)[MIM:618193 ]
3420	Q9NZC2 (TREM2)	5ELI:A	A130S	130	-	0	0.01	0.16	Benign
3421	Q9NZC7 (WWOX)	1WMV:A	P98L	51	rs144601717	0	-1.11	0.26	Benign
3422	Q9NZC9 (SMARCAL1)	4MQV:B	A22G	22	rs17851400	2	0.59	0.83	Benign
3423	Q9NZD4 (AHSP)	1W0B:A	P100T	100	rs36018996	0	0.56	2.50	Benign
3424	Q9NZH6 (IL37)	5HN1:A	P50R N54S P108L R152W W164R	50 54 108 152 164	rs2708943 rs2723183 rs2723187 rs28947200 rs2708947	0 2 6 4 4	-0.24 0.15 -0.51 1.36 -2.37	0.47 -2.16 -0.70 0.27 -0.78	Benign Benign Benign Benign Benign
3425	Q9NZH8 (IL36G)	4IZE:A	Q69K	69	rs6707930	2	0.46	-1.36	Benign
3426	Q9NZI5 (GRHL1)	5MPF:A	V397I	397	rs2303920	6	-0.69	-1.11	Benign
3427	Q9NZJ4 (SACS)	5V44:A	D168Y T201K N232K L308F	168 201 232 308	- - rs2031640 -	2 4 2 1	-0.11 4.24 1.03 0.99	-0.95 7.89 -0.61 -0.07	Disease(SACS)[MIM:270550 ] Disease(SACS)[MIM:270550 ] Benign Disease(SACS)[MIM:270550 ]
3428	Q9NZJ4 (SACS)	1IUR:A	R4331Q E4343K	39 51	rs773009784 rs749383532	1 0	-0.06 -0.31	-0.52 0.18	Disease(SACS)[MIM:270550 ] Disease(SACS)[MIM:270550 ]
3429	Q9NZJ4 (SACS)	3O10:A	K4508T N4549D	4508 4549	- -	2 2	-0.23 1.35	0.31 4.07	Disease(SACS)[MIM:270550 ] Disease(SACS)[MIM:270550 ]
3430	Q9NZJ5 (EIF2AK3)	5SV7:A	S136C Q166R	136 166	rs867529 rs13045	2 0	-0.74 -1.13	-0.22 -0.08	Benign Benign
3431	Q9NZJ5 (EIF2AK3)	4X7H:A	R588Q	588	rs121908569	3	0.93	-0.08	Disease(WRS)[MIM:226980 ]
3432	Q9NZK5 (ADA2)	3LGD:A	G47R G47V A109D H112Q V119A G142S R169Q P251L W264S H335R Y453C	21 21 83 86 93 116 143 225 238 309 427	rs202134424 rs200930463 rs587777240 rs587777241 - - rs77563738 rs148936893 rs587777242 rs2231495 rs376785840	2 2 3 8 5 1 6 2 4 1 8	7.49 2.09 2.01 0.06 1.74 -0.13 2.61 -0.81 1.74 -0.87 2.39	10.70 4.41 5.38 3.49 2.35 2.98 2.75 0.96 1.98 1.33 3.62	Disease(VAIHS)[MIM:615688 ] Disease(VAIHS)[MIM:615688 ] Disease(VAIHS)[MIM:615688 ] Disease(VAIHS)[MIM:615688 ] Disease(SNDNS)[MIM:182410 ] Disease(SNDNS)[MIM:182410 ] Disease(VAIHS)[MIM:615688 ] Disease(VAIHS)[MIM:615688 ] Disease(VAIHS)[MIM:615688 ] Benign Disease(VAIHS)[MIM:615688 ]
3433	Q9NZL3 (ZNF224)	2EM8:A	K438N Q447H	23 32	rs3208201 rs58935748	3 2	-0.32 -0.31	0.53 1.25	Benign Benign
3434	Q9NZL3 (ZNF224)	2YTH:A	H506D	35	rs3746323	3	0.55	1.10	Benign
3435	Q9NZL9 (MAT2B)	4KTT:E	A293T	282	rs17849948	4	-0.26	2.18	Benign
3436	Q9NZM3 (ITSN2)	3GF9:A	I1287T	1259	rs3731625	3	1.68	3.04	Benign
3437	Q9NZN5 (ARHGEF12)	1TXD:A	Y973F	973	rs2305013	2	-0.13	-1.09	Benign
3438	Q9NZN8 (CNOT2)	4C0D:B	A460T	460	rs11178192	3	-0.17	-0.36	Benign
3439	Q9NZN9 (AIPL1)	5U9A:A	V33A D90H Y134F	33 90 134	rs16955859 rs12449580 rs16955851	4 3 3	1.79 1.97 1.15	3.33 1.27 1.07	Benign Benign Benign
3440	Q9NZN9 (AIPL1)	6PX0:A	C239R R270H R302L	239 270 302	rs62637012 - rs62637015	5 7 2	5.13 2.39 -1.00	4.86 5.51 -1.20	Disease(LCA4)[MIM:604393 ] Disease(LCA4)[MIM:604393 ] Benign
3441	Q9NZQ3 (NCKIPSD)	6DEE:A	T324S	324	rs6785620	1	-0.02	0.36	Benign
3442	Q9NZQ3 (NCKIPSD)	6DEC:M	Y660S	660	rs17855516	2	-8.91	-4.88	Benign
3443	Q9NZU0 (FLRT3)	6JBU:B	Q69K E97G S144I K339R	69 97 144 339	rs398124653 rs398124651 rs398124652 rs398124654	5 3 3 0	-0.85 0.33 -0.54 -0.53	-0.86 -0.25 -2.69 -0.23	Disease(HH21)[MIM:615271 ] Disease(HH21)[MIM:615271 ] Disease(HH21)[MIM:615271 ] Disease(HH21)[MIM:615271 ]
3444	Q9P0L0 (VAPA)	2RR3:A	P104L	97	rs1127666	0	-0.73	0.96	Benign
3445	Q9P0M2 (AKAP7)	5JJ2:A	S215N	215	rs1190788	0	-0.42	0.51	Benign
3446	Q9P0N9 (TBC1D7)	3QWL:A	L67W A136T	67 136	rs543580 rs9381921	4 3	3.56 -0.19	3.22 0.72	Benign Benign
3447	Q9P0S9 (TMEM14C)	2LOS:A	S106R F108L N109I H112D	106 108 109 112	rs1045961 rs1045964 rs1045967 rs1045986	1 2 0 0	-1.45 -0.60 -0.65 -0.79	0.66 0.75 0.39 0.14	Benign Benign Benign Benign
3448	Q9P1W8 (SIRPG)	4I2X:E	V263A S286L	235 258	rs6043409 rs6034239	0 4	1.06 -1.72	0.11 -2.22	Benign Benign
3449	Q9P1W9 (PIM2)	2IWI:A	G138D I280V	138 280	rs35044770 rs35208542	0 4	-0.77 0.82	-0.61 1.14	Benign Benign
3450	Q9P202 (WHRN)	1UF1:A	H364R	108	rs10817610	0	-2.08	-1.11	Benign
3451	Q9P286 (PAK5)	2F57:A	S511N A555S	511 555	rs2297345 rs34102290	2 3	0.22 0.18	0.02 2.87	Benign Benign
3452	Q9P289 (STK26)	3GGF:A	R45C	45	rs56044451	0	-0.44	0.51	Benign
3453	Q9P298 (HIGD1B)	2LON:A	S86N D87N	86 87	rs1071682 rs2231650	1 1	0.00 -0.74	-0.12 0.11	Benign Benign
3454	Q9P2D1 (CHD7)	2V0F:A	R2653Q	2653	rs747082615	1	0.41	-0.68	Benign
3455	Q9P2F6 (ARHGAP20)	3MSX:B	A522T	522	rs7936020	0	-0.38	0.19	Benign
3456	Q9P2J5 (LARS1)	6LPF:A	K82R Y373C	82 373	rs112954500 rs201861847	6 8	-1.29 2.06	-0.06 1.87	Benign Disease(ILFS1)[MIM:615438 ]
3457	Q9P2K8 (EIF2AK4)	6N3N:A	R585Q L643R D872V	585 643 872	rs587777106 rs757852728 rs34665481	4 1 2	1.00 2.18 -1.38	-0.22 3.88 -0.19	Disease(PVOD2)[MIM:234810 ] Disease(PVOD2)[MIM:234810 ] Benign
3458	Q9P2R7 (SUCLA2)	6G4Q:B	G118R S199T D251N R284C	118 199 251 284	rs121908537 rs7320366 rs397515462 rs121908538	4 1 5 1	3.45 -0.02 -0.15 0.14	3.92 0.56 2.77 1.38	Disease(MTDPS5)[MIM:612073 ] Benign Disease(MTDPS5)[MIM:612073 ] Disease(MTDPS5)[MIM:612073 ]
3459	Q9P2T1 (GMPR2)	2A7R:A	G242D	242	rs34354104	3	-0.65	1.27	Benign
3460	Q9P2W7 (B3GAT1)	1V82:A	A131T	131	rs35434644	3	-0.11	1.81	Benign
3461	Q9UBC3 (DNMT3B)	3FLG:A	S270P	66	rs121908947	3	0.56	3.72	Disease(ICF1)[MIM:242860 ]
3462	Q9UBC3 (DNMT3B)	6U8P:A	A585T A585V A603T V606A G663S L664P P691L V699G V726G A766P H814R D817G V818M R840Q	585 585 603 606 663 664 691 699 726 766 814 817 818 840	rs750849178 - rs121908943 rs867732105 rs121908942 - rs889145646 - rs121908941 rs1191203668 rs1219696128 rs121908939 rs121908940 rs121908946	3 3 5 3 3 7 0 4 2 3 2 1 2 4	-0.13 -0.86 0.00 0.55 -0.29 2.86 -2.17 1.87 1.74 -0.32 -1.30 0.60 0.31 0.13	-1.96 -0.83 -0.32 -0.32 1.82 3.26 -1.75 1.08 2.00 0.47 -0.03 0.57 0.43 -0.47	Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(FSHD2)[MIM:158901 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ] Disease(ICF1)[MIM:242860 ]
3463	Q9UBD5 (ORC3)	5UJ8:A	Q126R V217I I247V T287M T389P R588C	126 217 247 287 389 589	rs2307371 rs2307389 rs2307374 rs2307381 rs2307372 rs2307370	4 4 7 2 2 2	-0.67 -0.69 0.70 -1.13 -0.95 -0.28	2.09 -0.42 0.49 -0.48 0.91 0.99	Benign Benign Benign Benign Benign Benign
3464	Q9UBD6 (RHCG)	3HD6:A	R202C	202	rs17807723	0	-0.34	-0.05	Benign
3465	Q9UBG0 (MRC2)	5E4K:A	V43I	43	rs2014055	3	-0.28	-0.23	Benign
3466	Q9UBH6 (XPR1)	5IJH:A	S136N L140P L145P	136 140 145	rs786205902 rs786205903 rs786205901	2 2 4	-0.87 1.77 2.60	-0.56 0.83 3.14	Disease(IBGC6)[MIM:616413 ] Disease(IBGC6)[MIM:616413 ] Disease(IBGC6)[MIM:616413 ]
3467	Q9UBK8 (MTRR)	2QTL:A	S257T L333V K350R C405R R415C P450R G487R G554R H595Y	257 333 350 405 415 450 487 554 595	rs2303080 rs10064631 rs162036 - rs2287780 rs16879334 rs137853061 - rs10380	0 2 1 5 2 3 3 5 2	-0.54 0.83 -1.00 3.60 0.24 0.15 -1.10 7.41 -1.12	-0.04 1.31 0.68 5.51 0.98 2.77 0.90 8.91 1.49	Benign Benign Benign Disease(HMAE)[MIM:236270 ] Benign Benign Disease(HMAE)[MIM:236270 ] Disease(HMAE)[MIM:236270 ] Benign
3468	Q9UBL3 (ASH2L)	6E2H:D	S478F	384	rs34167006	2	0.52	0.41	Benign
3469	Q9UBN7 (HDAC6)	3C5K:A	N1200D	92	rs151130423	3	0.48	0.62	Benign
3470	Q9UBP0 (SPAST)	3EAB:A	L195V	195	-	2	0.60	1.06	Disease(SPG4)[MIM:182601 ]
3471	Q9UBP0 (SPAST)	3VFD:A	I344K Q347K P361L S362C L363P R364M R364T F368L G370R R372G G377E L378Q L378R L380H F381C N386K N386S K388R M390V L391P S399L I406R I406V S407R A409T S410R	344 347 361 362 363 364 364 368 370 372 377 378 378 380 381 386 386 388 390 391 399 406 406 407 409 410	rs121908513 - - rs121908509 - - - - - - - rs1553316816 - - - - rs121908514 - rs797044850 - rs1553317025 - rs587777757 - rs1064793273 -	3 3 5 2 1 2 2 6 0 2 5 5 5 5 9 4 4 7 2 2 4 3 3 1 0 0	1.32 -0.24 0.12 -0.67 1.62 -0.51 0.49 0.82 -0.90 1.98 3.38 2.68 2.69 2.54 2.66 0.50 0.18 -0.31 -0.49 2.14 -1.49 0.75 0.36 -1.12 -0.37 -1.11	0.39 0.10 4.10 -0.06 1.24 -0.97 0.95 1.11 2.18 -0.71 4.80 4.75 4.17 3.05 3.88 0.71 -0.22 1.16 0.32 4.69 -3.57 2.55 -0.29 1.45 -0.26 0.58	Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ]
3472	Q9UBP0 (SPAST)	5Z6Q:A	S413L	413	-	0	-1.36	0.05	Disease(SPG4)[MIM:182601 ]
3473	Q9UBP0 (SPAST)	3VFD:A	R424G L426F L426V P435L S436F S436P D441G D441N D441V	424 426 426 435 436 436 441 441 441	- - rs1060502227 - - - rs121908512 - -	4 5 5 3 6 6 5 5 5	1.66 0.66 0.72 -0.70 2.30 0.46 0.74 -0.44 -1.08	-0.75 -0.20 0.72 0.15 2.69 1.72 1.01 0.95 0.49	Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ]
3474	Q9UBP0 (SPAST)	5Z6Q:A	C448Y	448	rs121908510	0	0.46	-0.10	Disease(SPG4)[MIM:182601 ]
3475	Q9UBP0 (SPAST)	3VFD:A	S458R R459G R460C R460L R460S L461P T463A D470V A485V P489L L492F D493G R498G R499C R499H R503L R503W E512D R514G L534P A551Y D555G D555N A556V G559D G559R R562G R562Q I580T D584H S595R W607C	458 459 460 460 460 461 463 470 486 490 493 494 499 500 500 504 504 513 515 535 552 556 556 557 560 560 563 563 581 585 596 608	- rs1553318238 rs878854990 - - - - rs121908516 - - - - - rs121908511 rs878854991 - rs864622162 - - - - - - - rs864622179 rs878854992 rs121908518 rs863224923 - - - -	1 1 2 2 2 3 2 2 6 3 4 2 1 5 5 5 5 1 8 5 2 5 5 5 3 3 3 3 4 6 1 5	-0.71 1.29 -0.33 -1.02 0.46 1.09 1.15 -1.15 -0.61 -0.96 0.83 0.75 1.42 -0.67 0.29 0.01 0.74 0.22 3.27 2.16 -0.51 0.30 -0.46 0.04 0.09 0.91 1.25 0.43 1.58 3.79 -0.27 2.56	1.51 -0.36 0.16 -0.95 0.07 -0.26 -0.93 -1.11 -1.40 0.80 1.02 -1.24 -1.92 -2.88 -1.56 -0.42 0.78 -0.37 2.82 5.04 -0.95 0.53 0.40 1.08 5.38 1.05 2.76 2.36 2.95 4.79 1.01 3.25	Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ] Disease(SPG4)[MIM:182601 ]
3476	Q9UBQ7 (GRHPR)	2GCG:A	R170Q	170	rs12002324	3	0.72	-0.70	Benign
3477	Q9UBR1 (UPB1)	6FTQ:A	A85E G235R R236W S264R E271K R326Q A340D T359M	85 235 236 264 271 326 340 359	rs34035085 rs766196011 rs144135211 - rs747454154 rs118163237 rs34110964 rs369879221	3 2 7 4 3 6 3 1	-0.38 6.38 -0.25 -1.40 0.14 2.50 1.30 -0.16	0.84 11.02 -3.25 2.30 0.12 3.09 3.50 -0.36	Disease(UPB1D)[MIM:613161 ] Disease(UPB1D)[MIM:613161 ] Disease(UPB1D)[MIM:613161 ] Disease(UPB1D)[MIM:613161 ] Disease(UPB1D)[MIM:613161 ] Disease(UPB1D)[MIM:613161 ] Benign Disease(UPB1D)[MIM:613161 ]
3478	Q9UBR2 (CTSZ)	1DEU:A	A286T	225	rs34069356	1	-0.46	0.62	Benign
3479	Q9UBT2 (UBA2)	1Y8Q:B	L307R	307	rs1043062	1	0.63	0.18	Benign
3480	Q9UBT6 (POLK)	5T14:A	S423R	423	rs35257416	0	-0.67	0.34	Benign
3481	Q9UBV7 (B4GALT7)	4IRP:A	A186D L206P	186 206	rs121917817 rs121917818	4 7	0.80 2.16	3.33 4.67	Disease(EDSSPD1)[MIM:130070 ] Disease(EDSSPD1)[MIM:130070 ]
3482	Q9UBW5 (BIN2)	4AVM:A	S48N	48	rs7312857	2	-0.37	0.02	Benign
3483	Q9UBX0 (HESX1)	2K40:A	N125S E149K R160C S170L	18 42 53 63	rs9878928 rs104893742 rs28936702 rs28936703	1 3 4 0	0.75 1.07 0.06 -1.61	1.26 1.05 -0.24 -1.10	Benign Disease(GHDPA)[MIM:182230 ] Disease(SOD)[MIM:182230 ] Disease(SOD)[MIM:182230 ]
3484	Q9UBX1 (CTSF)	1M6D:A	Q321R G458A S480L	51 182 208	rs397514731 rs397514732 rs397514733	7 3 5	2.88 0.43 -0.17	3.86 -0.41 -1.18	Disease(CLN13)[MIM:615362 ] Disease(CLN13)[MIM:615362 ] Disease(CLN13)[MIM:615362 ]
3485	Q9UBZ9 (REV1)	3GQC:A	N373S M656V L660W D700N R704Q	373 656 660 700 704	rs3087399 rs3087394 rs3087398 rs28382941 rs28382942	4 3 4 1 1	0.76 -1.01 -0.04 -0.82 0.18	1.69 0.44 1.40 -0.42 -0.18	Benign Benign Benign Benign Benign
3486	Q9UBZ9 (REV1)	5VZM:B	A1003T	1002	rs3087401	0	-0.38	0.53	Benign
3487	Q9UDX3 (SEC14L4)	4TLG:A	S3G R124G V200M E211K	3 124 200 211	rs9608956 rs9606739 rs17738540 rs17738527	3 5 4 1	-0.47 2.91 -0.09 -0.19	-0.26 5.55 0.37 -1.67	Benign Benign Benign Benign
3488	Q9UDX4 (SEC14L3)	4UYB:A	I103T R214H D335E R364C	103 214 335 364	rs4820853 rs2269961 rs2240345 rs35764129	2 4 1 6	1.26 1.81 -0.44 0.03	-0.30 -0.55 -0.57 0.64	Benign Benign Benign Benign
3489	Q9UDY8 (MALT1)	2G7R:A	S89I	89	rs398123058	4	-1.75	0.81	Disease(IMD12)[MIM:615468 ]
3490	Q9UDY8 (MALT1)	6F7I:A	I641V	641	rs35533328	2	0.61	0.70	Benign
3491	Q9UEF7 (KL)	5W21:A	F45V H193R F352V C370S P514S	45 193 352 370 514	rs1052019 rs121908423 rs9536314 rs9527025 rs3752472	3 6 7 4 1	0.00 -1.04 1.48 1.01 0.45	0.83 -1.03 2.79 0.82 0.60	Benign Disease(HFTC3)[MIM:617994 ] Benign Benign Benign
3492	Q9UG22 (GIMAP2)	2XTP:A	V74F N152S H161R	74 152 161	rs11558054 rs17173567 rs2075078	5 0 0	1.92 0.47 -1.56	2.45 0.82 0.58	Benign Benign Benign
3493	Q9UGM1 (CHRNA9)	4D01:A	R96Q	71	rs10024518	4	1.27	0.35	Benign
3494	Q9UGM3 (DMBT1)	6SA5:A	H1084Y	1084	rs2277244	7	-0.22	6.85	Benign
3495	Q9UGM5 (FETUB)	6SAZ:B	S33P G202S	33 202	rs34522046 rs6785067	2 1	-0.23 0.24	0.10 3.24	Benign Benign
3496	Q9UGM6 (WARS2)	5EKD:A	G45V G50S V178L A267P K313M V349L L360P	45 50 178 267 313 349 360	rs1553241795 rs11552864 - rs3790549 rs145867327 rs1170780314 rs17023101	1 2 4 0 2 5 2	0.78 -0.84 -0.71 -0.83 -1.18 -0.50 1.02	3.40 -1.77 -0.88 -0.85 -2.00 -0.94 0.88	Disease(NEMMLAS)[MIM:617710 ] Benign Disease(NEMMLAS)[MIM:617710 ] Benign Disease(NEMMLAS)[MIM:617710 ] Disease(NEMMLAS)[MIM:617710 ] Benign
3497	Q9UGN4 (CD300A)	2Q87:A	R111Q	94	rs2272111	2	0.88	-0.01	Benign
3498	Q9UGN5 (PARP2)	6F1K:A	S161N N168S	161 168	rs3093905 rs3093906	3 1	-0.44 0.67	0.21 0.83	Benign Benign
3499	Q9UGN5 (PARP2)	4ZZX:A	D235G I285V R296Q I331T	235 285 296 331	rs3093921 rs3093925 rs3093926 rs2275010	2 6 1 5	2.15 0.91 0.36 1.92	4.92 1.31 -0.01 2.78	Benign Benign Benign Benign
3500	Q9UGP5 (POLL)	1XSL:A	R438W	438	rs3730477	0	0.42	0.45	Benign
3501	Q9UH17 (APOBEC3B)	5TKM:A	K62E P98L S109A T146K	62 98 109 146	rs2076109 rs2076110 rs17000697 rs5995649	1 2 1 4	-0.38 -0.34 -0.35 0.08	-0.17 2.44 0.28 -0.30	Benign Benign Benign Benign
3502	Q9UH17 (APOBEC3B)	2NBQ:A	R351H	351	rs1053813	2	2.11	-3.02	Benign
3503	Q9UH65 (SWAP70)	2DN6:A	R230G	27	rs397686	5	0.49	-1.97	Benign
3504	Q9UH77 (KLHL3)	4HXI:A	A77E M78V E85A C164F	77 78 85 164	rs199469623 rs199469624 rs199469625 rs199469626	2 3 2 3	-0.35 0.33 0.38 0.74	0.31 1.52 0.27 -1.52	Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ]
3505	Q9UH77 (KLHL3)	4CH9:A	Q309R F322C R336I A340V V361M R362W R384Q R384W L387P A398V S410L P426L M427T R431Q S432N S433G S433N A494T H498Y G500V P501T R528C R528H N529K S553L Y557C R575W	309 322 336 340 361 362 384 384 387 398 410 426 427 431 432 433 433 494 498 500 501 528 528 529 553 557 575	rs199469627 rs199469639 rs199469640 rs199469628 - rs200892557 rs199469629 rs951676369 rs199469630 rs387907155 rs199469641 rs387907156 rs199469642 rs199469643 rs199469631 - rs199469632 rs199469633 - rs746774345 rs199469634 rs199469635 rs199469636 - rs1367184898 rs199469645 rs199469646	7 4 5 4 4 5 11 11 7 5 4 3 4 11 5 4 4 5 7 0 0 7 7 5 3 7 11	0.40 1.99 0.31 -0.79 0.09 2.55 2.87 0.77 1.46 -0.85 -1.76 -0.90 1.68 2.33 0.53 0.63 -0.22 -0.29 0.35 -1.24 -0.01 0.27 4.14 0.19 -1.80 3.55 2.89	1.75 3.50 -1.08 -0.30 0.44 1.95 5.70 5.10 0.93 -1.26 1.08 0.30 2.12 5.51 1.06 -0.50 -0.65 0.52 -2.15 2.37 0.83 -1.05 2.95 2.84 -1.53 4.76 1.06	Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ] Disease(PHA2D)[MIM:614495 ]
3506	Q9UH99 (SUN2)	3UNP:A	G671S	670	rs2072797	0	-0.18	0.36	Benign
3507	Q9UHA7 (IL36A)	6HPI:A	Q12R I63T G134R	12 63 134	rs895497 rs28938798 rs28947175	4 6 1	-1.84 1.61 -1.62	1.90 2.15 1.31	Benign Benign Benign
3508	Q9UHC6 (CNTNAP2)	5Y4M:A	R114Q	114	rs189731792	5	0.49	0.40	Benign
3509	Q9UHC9 (NPC1L1)	3QNT:A	V55L	55	rs119457968	5	-0.37	1.56	Benign
3510	Q9UHD0 (IL19)	1N1F:A	F175S	157	rs2243191	2	-0.91	-0.15	Benign
3511	Q9UHD2 (TBK1)	4IM0:A	R47H D50A Y105C S151F G159A R271Q K291E I305T R308Q R357Q N388D K401E V464A M559R K570Q A571V M598V	47 50 105 151 159 271 291 305 308 357 388 401 464 559 570 571 598	- rs1010930015 rs1366668789 rs55824172 rs1555202947 rs56196591 rs34774243 rs770942184 - rs758357594 rs17857028 rs756751089 rs35635889 - rs17853341 rs765035140 rs899858451	0 1 7 4 0 2 1 2 4 1 1 0 3 8 3 0 3	-0.01 0.00 1.16 2.70 0.42 0.48 -0.72 1.67 2.02 0.07 0.21 -0.39 1.09 3.34 0.05 -1.10 -0.06	0.00 -0.46 1.96 5.66 -0.04 -0.36 0.91 2.47 5.49 0.04 -0.17 -0.31 1.16 7.63 0.58 0.30 1.04	Disease(FTDALS4)[MIM:616439 ] Disease(IIAE8)[MIM:617900 ] Disease(FTDALS4)[MIM:616439 ] Benign Disease(IIAE8)[MIM:617900 ] Benign Benign Disease(FTDALS4)[MIM:616439 ] Disease(FTDALS4)[MIM:616439 ] Disease(FTDALS4)[MIM:616439 ] Benign Disease(FTDALS4)[MIM:616439 ] Benign Disease(FTDALS4)[MIM:616439 ] Benign Disease(FTDALS4)[MIM:616439 ] Disease(FTDALS4)[MIM:616439 ]
3512	Q9UHD2 (TBK1)	5EOA:C	E696K	696	rs748112833	2	-0.18	-0.92	Disease(FTDALS4)[MIM:616439 ]
3513	Q9UHF0 (TAC3)	1P9F:A	M90T	10	rs121918123	0	-0.03	0.35	Disease(HH10)[MIM:614839 ]
3514	Q9UHG0 (DCDC2)	2DNF:A	P152A S221G	28 97	rs33914824 rs2274305	0 0	-1.38 0.76	-2.36 0.11	Benign Benign
3515	Q9UHL4 (DPP7)	4EBB:A	A89G	89	rs10747049	3	0.02	0.26	Benign
3516	Q9UHN1 (POLG2)	2G4C:A	A169T	169	rs1427463	1	-0.32	0.08	Benign
3517	Q9UHN1 (POLG2)	5C51:B	R182W G416A G451E	182 416 451	rs886037843 rs17850455 rs104894632	7 2 2	0.25 0.14 -0.15	-3.28 0.18 1.15	Disease(MTDPS16)[MIM:618528 ] Benign Disease(PEOA4)[MIM:610131 ]
3518	Q9UHX1 (PUF60)	2QFJ:A	H169Y	152	rs398123001	7	-4.69	-6.17	Disease(VRJS)[MIM:615583 ]
3519	Q9UI17 (DMGDH)	5L46:A	H109R S279P A530G S646P	109 279 530 646	rs121908331 rs532964 rs1805073 rs1805074	8 1 6 0	-1.36 -0.70 0.79 -0.65	2.82 -2.02 1.64 -0.68	Disease(DMGDHD)[MIM:605850 ] Benign Benign Benign
3520	Q9UI42 (CPA4)	2BOA:A	L27F P157T R183L G303C	13 1046 1071 1191	rs34587586 rs3735051 rs3735053 rs2171492	8 4 8 4	0.54 1.42 0.13 -1.78	5.34 8.67 3.53 2.56	Benign Benign Benign Benign
3521	Q9UI43 (MRM2)	2NYU:A	G189R	139	-	5	0.44	5.00	Disease(MTDPS17)[MIM:618567 ]
3522	Q9UI95 (MAD2L2)	3ABD:A	V85E	85	rs1057517674	4	1.45	4.61	Disease(FANCV)[MIM:617243 ]
3523	Q9UIF7 (MUTYH)	3N5N:X	D121G Y125H W128R P154L Y176C Y177S R179C R179H R182Q R182W G186E G213E A224V V231M N235S R242C R242H V243F R244G R271W M280V P292L S319N Q335H	110 114 117 143 165 166 168 168 171 171 175 202 213 220 224 231 231 232 233 260 269 281 308 324	- - rs730881832 rs777184451 rs34612342 - rs747993448 rs143353451 rs533899702 rs750592289 rs754155145 rs768553551 rs11545695 rs200165598 rs1057517765 rs200495564 rs140342925 rs587780749 rs587782885 rs769237459 rs876659676 rs374950566 rs587781810 rs3219489	5 9 7 3 2 1 2 2 4 4 3 2 3 5 4 7 7 5 9 3 2 4 1 0	1.80 3.44 1.72 -0.55 -2.45 -2.99 -15.32 -14.68 0.61 0.80 1.03 -1.42 -0.97 -0.14 0.37 1.25 2.20 0.05 4.90 1.36 -0.46 -0.81 -0.05 0.30	0.96 4.72 6.65 1.43 -1.28 -2.14 -14.55 -14.43 -0.18 0.31 4.80 1.96 -0.53 0.34 0.33 2.18 2.43 -0.65 1.71 1.37 -0.81 0.78 -0.27 0.30	Benign Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Benign Disease(-) Disease(FAP2)[MIM:608456 ] Disease(-) Disease(FAP2)[MIM:608456 ] Benign Benign Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Benign Benign
3524	Q9UIF7 (MUTYH)	1X51:A	A370V P377T L385P G393D P402L P402S R434Q A470D A486T	22 29 37 45 54 54 86 122 138	rs35352891 - rs1060501335 rs36053993 rs529008617 rs121908382 rs587782120 rs200844166 rs587782263	6 4 5 0 6 6 2 4 3	-0.21 -0.06 1.88 -0.29 -0.99 1.28 0.03 2.07 -0.76	0.16 2.15 3.41 2.47 0.16 3.67 -0.23 5.63 0.46	Benign Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ] Disease(GASC)[MIM:613659 ] Benign Disease(FAP2)[MIM:608456 ] Disease(FAP2)[MIM:608456 ]
3525	Q9UII6 (DUSP13)	2GWO:A	R62Q C156Y R190G	62 156 190	rs16932004 rs3088142 rs16931996	4 2 1	0.30 0.67 1.14	-0.55 1.64 0.75	Benign Benign Benign
3526	Q9UIK4 (DAPK2)	1WMK:A	R60W R271W	50 261	rs56047843 rs34270163	0 0	1.97 1.22	-0.22 -0.09	Benign Benign
3527	Q9UIQ6 (LNPEP)	4P8Q:A	N594I A763T S913T I963V	594 763 913 963	rs12520455 rs2303138 rs17087233 rs11746232	5 3 6 2	-1.88 0.03 -0.02 0.82	0.43 -1.19 -1.03 1.53	Benign Benign Benign Benign
3528	Q9UJ70 (NAGK)	2CH5:A	W38R A60V	38 60	rs17856147 rs17849984	2 3	-0.37 -0.95	0.35 -1.33	Benign Benign
3529	Q9UJ71 (CD207)	5G6U:A	P213S W264R V278A N288D A300P	213 264 278 288 300	rs17006436 rs200837270 rs741326 rs13383830 rs2080391	3 9 0 4 1	0.96 2.93 0.77 0.52 -0.56	1.74 3.59 -0.50 1.82 0.59	Benign Disease(BIRGD)[MIM:613393 ] Benign Benign Benign
3530	Q9UJ78 (ZMYM5)	2DAS:A	T231A	10	rs41292167	0	0.71	0.31	Benign
3531	Q9UJA3 (MCM8)	6L0O:A	N785S	785	rs16991638	2	0.01	0.09	Benign
3532	Q9UJA9 (ENPP5)	5VEM:A	R39P I69V I171V Y283C	39 69 171 283	rs34109856 rs34432940 rs6926570 rs16874326	6 4 4 5	0.64 0.66 0.74 0.57	-1.79 1.11 1.51 2.00	Benign Benign Benign Benign
3533	Q9UJJ7 (RPUSD1)	5VBB:A	E124Q L247P	124 247	rs2272898 rs3751672	1 3	-0.32 1.55	0.03 2.16	Benign Benign
3534	Q9UJV9 (DDX41)	2P6N:A	R525H	525	rs869312828	0	1.32	-0.20	Disease(MPLPF)[MIM:616871 ]
3535	Q9UJW3 (DNMT3L)	2PV0:A	R278G	278	rs7354779	1	-3.13	-2.50	Benign
3536	Q9UK05 (GDF2)	1ZKZ:A	R333W	14	rs35129734	3	0.12	-0.74	Disease(HHT5)[MIM:615506 ]
3537	Q9UK39 (NOCT)	6MAL:A	H140Y	140	rs2271777	2	0.40	-0.45	Benign
3538	Q9UK53 (ING1)	2QIC:A	C358S N359S	215 216	- -	0 2	1.00 0.44	0.85 0.85	Disease(HNSCC)[MIM:275355 ] Disease(HNSCC)[MIM:275355 ]
3539	Q9UK55 (SERPINA10)	3H5C:A	S61G G139R L158Q T161S R196H G271S Q384P Q384R F420L	40 118 137 140 175 250 363 363 399	rs941591 rs56137907 rs2232699 rs2232700 rs2232701 rs2232708 - rs2232710 rs546304706	0 0 2 3 0 3 7 7 8	1.29 -1.39 1.94 -2.55 0.59 -0.47 -1.49 -0.44 1.37	-0.28 0.78 1.33 -2.64 0.62 0.23 4.51 5.12 2.51	Benign Benign Benign Benign Benign Benign Benign Benign Benign
3540	Q9UKB3 (DNAJC12)	2CTQ:A	R72P	79	-	6	1.49	1.87	Disease(HPANBH4)[MIM:617384 ]
3541	Q9UKF6 (CPSF3)	2I7T:A	E142G	142	rs17850770	2	1.67	2.81	Benign
3542	Q9UKG1 (APPL1)	2Z0O:A	D94N A108V	94 108	rs796065047 rs4381906	3 1	-0.46 -0.58	-0.75 0.24	Disease(MODY14)[MIM:616511 ] Benign
3543	Q9UKJ0 (PILRB)	4NFC:A	I63T N66D	33 36	rs11771799 rs11761306	0 3	0.96 0.57	-0.12 3.32	Benign Benign
3544	Q9UKJ1 (PILRA)	3WUZ:A	R78G	78	rs1859788	3	1.34	-3.69	Benign
3545	Q9UKK9 (NUDT5)	2DSB:A	I123T	123	rs34863826	3	1.51	2.46	Benign
3546	Q9UKL6 (PCTP)	1LN1:A	E10A	10	rs12941739	2	0.49	-0.80	Benign
3547	Q9UKM7 (MAN1B1)	1X9D:A	R334C E397K	334 397	rs387906886 rs387906885	9 3	0.36 0.07	2.17 0.76	Disease(MRT15)[MIM:614202 ] Disease(MRT15)[MIM:614202 ]
3548	Q9UKT7 (FBXL3)	4I6J:B	C358R	358	-	3	2.15	3.84	Disease(IDDSFAS)[MIM:606220 ]
3549	Q9UKU7 (ACAD8)	1RX0:A	M128I D134Y G137R M152T V203I R302Q A320T R334C Q385R	106 112 115 130 181 280 298 312 363	rs374317179 rs367857040 rs371449613 rs121908418 rs759877257 rs121908422 rs200620279 rs778823613 rs367996531	4 4 3 5 4 4 1 6 6	-0.12 1.48 3.68 2.08 -0.54 0.29 -0.28 0.84 -0.75	0.67 2.20 4.90 4.22 -0.80 0.01 0.84 2.44 2.82	Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ] Disease(IBDD)[MIM:611283 ]
3550	Q9UKY0 (PRND)	1LG4:A	P56L F70L L149S	56 70 149	rs35453518 - -	2 6 1	-0.73 1.04 1.36	-0.34 1.35 -0.55	Benign Benign Benign
3551	Q9UL01 (DSE)	6HZN:A	T25I P34L S268L I282V	25 34 268 282	rs10485183 rs35548455 rs398122361 rs34994230	0 1 4 4	-1.41 -0.83 -1.35 0.67	0.13 1.25 -2.90 -0.51	Benign Benign Disease(EDSMC2)[MIM:615539 ] Benign
3552	Q9UL18 (AGO1)	4KRE:A	G199S	199	-	4	2.45	3.60	Disease(-)
3553	Q9UL19 (PLAAT4)	2LKT:A	V69L	69	rs35502888	2	-0.30	-1.72	Benign
3554	Q9UL51 (HCN2)	3U10:A	R527Q	527	rs55687900	4	1.30	-0.38	Benign
3555	Q9UL52 (TMPRSS11E)	2OQ5:A	Y303C	128	rs976002	3	1.38	-0.94	Benign
3556	Q9ULC4 (MCTS1)	3R90:A	L106H	106	rs2233110	4	1.91	1.22	Benign
3557	Q9ULC6 (PADI1)	5HP5:A	V649M	649	rs16824215	3	-0.26	-0.52	Benign
3558	Q9ULJ6 (ZMIZ1)	5AIZ:A	K91R	91	-	1	-0.48	0.09	Disease(NEDDFSA)[MIM:618659 ]
3559	Q9ULK4 (MED23)	6H02:A	R611Q	611	-	6	2.36	0.93	Disease(MRT18)[MIM:614249 ]
3560	Q9ULV0 (MYO5B)	4J5M:A	L1556R M1688V	1556 1688	- rs112417235	5 4	2.52 0.77	5.93 1.11	Disease(DIAR2)[MIM:251850 ] Benign
3561	Q9ULV1 (FZD4)	5BPB:A	H69Y M105T M105V I114T M157V	69 105 105 114 157	rs80358282 rs80358285 rs80358284 - rs80358286	6 4 4 4 3	-0.20 1.19 0.34 1.80 -0.65	-1.38 2.64 0.78 2.78 2.24	Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ]
3562	Q9ULV1 (FZD4)	6BD4:A	C181R K203N C204R C204Y M223K I256V W335C M342V R417Q T445P G488D S497F	181 203 204 204 223 256 335 342 417 445 488 497	rs80358287 rs1476724511 rs80358288 rs1064794064 - rs104894223 rs80358292 rs80358293 rs80358294 rs80358297 rs80358298 rs80358300	3 10 6 6 5 3 5 1 0 2 4 0	0.87 1.27 1.02 5.39 1.69 0.93 0.92 -0.44 0.15 0.52 2.57 0.26	5.91 2.36 9.37 9.21 3.74 1.00 2.49 0.41 0.37 -0.62 7.56 0.71	Disease(EVR1)[MIM:133780 ] Benign Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ] Disease(EVR1)[MIM:133780 ]
3563	Q9ULV5 (HSF4)	6J6V:A	A19D R73H I86V L114P R119C	19 73 86 114 119	rs121909049 - rs121909050 rs121909048 rs28937573	1 2 0 5 3	0.00 0.94 0.35 2.51 0.74	-0.15 0.09 -0.01 1.88 -0.49	Disease(CTRCT5)[MIM:116800 ] Disease(CTRCT5)[MIM:116800 ] Disease(CTRCT5)[MIM:116800 ] Disease(CTRCT5)[MIM:116800 ] Disease(CTRCT5)[MIM:116800 ]
3564	Q9ULW8 (PADI3)	6CE1:A	I52V L112H A294V A582T P605T R618Q	52 112 294 582 605 618	rs3750300 rs142129409 rs144080386 rs34097903 rs144944758 rs35624745	5 4 3 2 6 4	0.96 1.80 -1.56 -0.38 1.48 0.94	0.78 3.49 -1.61 2.84 4.09 0.39	Benign Disease(UHS1)[MIM:191480 ] Disease(UHS1)[MIM:191480 ] Benign Disease(UHS1)[MIM:191480 ] Benign
3565	Q9UM07 (PADI4)	1WD8:A	R8H T79M V82A D89N P102T G112A	8 79 82 89 102 112	rs35381732 rs35809521 rs11203367 rs143187209 rs34309058 rs874881	1 2 1 2 0 4	-0.20 -0.94 0.86 -0.88 0.13 -0.91	0.37 -1.65 -0.43 0.21 1.30 -1.24	Benign Benign Benign Benign Benign Benign
3566	Q9UM07 (PADI4)	1WD9:A	M164T	164	rs11588132	4	1.62	1.41	Benign
3567	Q9UM07 (PADI4)	1WD8:A	D260N S275F	260 275	rs35903413 rs1748020	0 1	-1.78 -0.18	-0.69 -0.76	Benign Benign
3568	Q9UM13 (ANAPC10)	1JHJ:A	R46Q	46	rs35257136	6	0.86	0.38	Benign
3569	Q9UM47 (NOTCH3)	4ZLP:A	L1519P	1519	rs367543285	6	0.95	3.94	Disease(IMF2)[MIM:615293 ]
3570	Q9UM73 (ALK)	3AOX:A	D1091N	1091	rs864309584	1	-0.38	-0.28	Disease(NBLST3)[MIM:613014 ]
3571	Q9UM73 (ALK)	4FOB:A	G1121D G1128A T1151M M1166R I1171N F1174C F1174I F1174L F1174V R1192P A1234T F1245C F1245V I1250T A1274T R1275L R1275Q Y1278S M1328L F1376S	1121 1128 1151 1166 1171 1174 1174 1174 1174 1192 1234 1245 1245 1250 1274 1275 1275 1278 1328 1376	rs55760835 rs113994088 rs113994091 rs1057520019 rs1057519698 rs1057519697 rs281864719 rs863225281 rs281864719 rs113994089 - rs863225283 rs281864720 rs113994092 rs45502292 rs113994087 rs113994087 rs863225285 rs56160491 rs17694720	2 1 5 6 3 6 6 6 6 6 5 4 4 4 2 5 5 4 2 8	-0.79 -0.20 0.28 1.15 1.76 3.59 2.64 2.37 3.44 0.46 0.47 2.21 2.23 1.72 0.09 0.10 2.08 2.58 -0.67 3.20	1.48 0.49 -1.91 4.32 2.78 4.78 2.69 2.55 3.30 -3.49 1.47 3.01 2.23 3.11 -0.07 0.60 4.17 2.11 -0.16 3.60	Benign Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Benign Benign Disease(NBLST3)[MIM:613014 ] Disease(NBLST3)[MIM:613014 ] Benign Benign
3572	Q9UMF0 (ICAM5)	4OI9:A	V301I A348T	270 317	rs1056538 rs2228615	5 0	-0.61 -0.45	-1.04 0.31	Benign Benign
3573	Q9UMR2 (DDX19B)	3FMP:B	V149L	149	rs34607244	5	-0.70	-0.75	Benign
3574	Q9UMS0 (NFU1)	2M5O:A	R182W G189R G208C	32 39 58	rs1354126704 - rs374514431	5 3 2	1.39 -1.49 -1.49	1.47 2.63 0.68	Disease(MMDS1)[MIM:605711 ] Disease(MMDS1)[MIM:605711 ] Disease(MMDS1)[MIM:605711 ]
3575	Q9UMX1 (SUFU)	4KM8:A	I37V V77M H176R P382L I406T K442R S481N	37 77 176 382 406 442 481	rs745793517 - rs1554852272 rs1401882800 rs1554854758 rs772598739 -	5 1 10 2 5 2 1	0.75 0.33 1.64 -0.59 1.83 -0.69 -0.01	1.12 -0.59 1.94 1.94 2.99 -0.14 0.42	Benign Benign Disease(JBTS32)[MIM:617757 ] Benign Disease(JBTS32)[MIM:617757 ] Benign Benign
3576	Q9UMZ3 (PTPRQ)	4IKC:A	R2121K	2767	rs1163042	6	1.47	-1.66	Benign
3577	Q9UN36 (NDRG2)	2XMQ:A	T45S G48V	31 34	rs36007455 rs11552412	2 0	1.42 -0.14	1.73 2.44	Benign Benign
3578	Q9UNA4 (POLI)	5KT4:A	R96G I261M E276K	96 261 276	rs3218778 rs3218784 rs3218783	1 4 3	1.10 0.03 -0.88	-2.26 -1.16 -2.00	Benign Benign Benign
3579	Q9UNA4 (POLI)	2MBB:A	F532S	75	rs3218786	6	1.90	6.55	Benign
3580	Q9UNA4 (POLI)	2KHU:A	A731T	91	rs8305	1	-0.43	-0.48	Benign
3581	Q9UNE7 (STUB1)	4KBQ:A	E28K N65S A79D A79T L123V N130I K145Q W147C	28 65 79 79 123 130 145 147	- rs690016544 rs587777347 rs587777346 rs587777344 rs587777341 rs146251364 rs587777342	0 3 3 3 4 0 2 1	0.48 0.33 1.81 0.90 0.49 -0.45 0.08 -1.38	0.94 0.95 5.60 0.64 1.00 -0.66 -0.58 0.20	Disease(SCAR16)[MIM:615768 ] Disease(SCAR16)[MIM:615768 ] Disease(SCAR16)[MIM:615768 ] Disease(SCAR16)[MIM:615768 ] Disease(SCAR16)[MIM:615768 ] Disease(SCAR16)[MIM:615768 ] Disease(SCAR16)[MIM:615768 ] Disease(SCAR16)[MIM:615768 ]
3582	Q9UNF0 (PACSIN2)	3HAJ:A	N175S M294I	176 295	rs35383004 rs2746984	2 3	0.07 -0.29	-0.36 0.08	Benign Benign
3583	Q9UNI6 (DUSP12)	4JNB:A	A51E	51	rs35106830	1	-0.71	0.14	Benign
3584	Q9UNS1 (TIMELESS)	6TAZ:B	R831Q M870V R922H R924W	18 57 109 111	rs774047 rs61733875 rs72478999 rs72479000	4 3 7 5	0.35 0.33 0.08 0.48	0.29 1.52 0.50 -1.70	Benign Benign Benign Benign
3585	Q9UNS1 (TIMELESS)	4XHT:A	I1017T P1018L	1017 1018	rs61376834 rs2291739	1 3	1.09 -0.65	1.20 1.26	Benign Benign
3586	Q9UPN3 (MACF1)	5X57:A	C7135F D7186Y C7188F C7188G	40 91 93 93	- - - -	2 3 2 2	1.29 0.38 0.39 2.04	-1.27 1.57 0.92 1.21	Disease(LIS9)[MIM:618325 ] Disease(LIS9)[MIM:618325 ] Disease(LIS9)[MIM:618325 ] Disease(LIS9)[MIM:618325 ]
3587	Q9UPN9 (TRIM33)	5MR8:A	V961M	961	rs55688622	2	0.10	-0.26	Benign
3588	Q9UPP1 (PHF8)	3KV4:A	F315S	279	rs121918524	7	2.98	5.25	Disease(MRXSSD)[MIM:300263 ]
3589	Q9UPR3 (SMG5)	2HWY:A	N1004D	1004	rs17853821	4	0.19	0.55	Benign
3590	Q9UPT6 (MAPK8IP3)	4PXJ:A	L444P	444	-	2	1.81	1.22	Disease(NEDBA)[MIM:618443 ]
3591	Q9UPT8 (ZC3H4)	2CQE:A	M464V	476	rs402833	1	-0.60	1.30	Benign
3592	Q9UPY3 (DICER1)	4NGB:A	S839F	829	rs387906934	1	0.83	1.50	Disease(MNG1)[MIM:138800 ]
3593	Q9UPY3 (DICER1)	2EB1:A	D1709Y D1713V	51 55	- -	3 4	-0.51 -1.32	-2.04 -1.48	Disease(GLOW)[MIM:618272 ] Disease(GLOW)[MIM:618272 ]
3594	Q9UQ84 (EXO1)	3QE9:Y	V27A V76I R93G E109K A137S A153V N279S N299S	27 76 93 109 137 153 279 299	rs1472620416 rs4149864 rs4149865 rs143546023 rs147663824 - rs4149909 rs4149910	5 5 2 1 3 4 5 2	1.39 -0.62 0.93 -0.72 0.69 -0.80 0.13 0.38	2.85 -0.64 0.19 -3.08 2.08 1.00 2.26 -0.97	Benign Benign Benign Benign Benign Benign Benign Benign
3595	Q9UQ90 (SPG7)	2QZ4:A	G349S R486Q T503A A510V F545L	349 486 503 510 545	rs141659620 rs111475461 rs2292954 rs61755320 rs758338586	5 5 2 3 2	1.51 1.21 0.16 0.17 -0.41	4.21 1.87 0.06 0.06 -0.52	Disease(SPG7)[MIM:607259 ] Benign Benign Disease(SPG7)[MIM:607259 ] Benign
3596	Q9UQM7 (CAMK2A)	3SOA:A	F98S E109D E183V P212Q H282R T286P H466Y	98 109 183 212 282 286 436	rs1554122526 - rs1554122129 - rs1554121875 rs1554121872 rs1554119274	5 6 6 3 3 5 5	1.16 1.46 -1.37 2.92 -2.62 -1.07 0.12	5.67 3.38 0.29 7.41 0.89 -0.82 -1.52	Disease(MRD53)[MIM:617798 ] Disease(MRD53)[MIM:617798 ] Disease(MRD53)[MIM:617798 ] Disease(MRD53)[MIM:617798 ] Disease(MRD53)[MIM:617798 ] Disease(MRD53)[MIM:617798 ] Disease(MRT63)[MIM:618095 ]
3597	Q9UQN3 (CHMP2B)	2JQK:B	Q206H	122	rs63751126	2	0.39	0.25	Disease(ALS17)[MIM:614696 ]
3598	Q9UQQ1 (NAALADL1)	4TWE:A	K398T L611V	398 611	rs12223986 rs36053340	5 2	0.16 1.77	-0.26 2.57	Benign Benign
3599	Q9UQV4 (LAMP3)	4AKM:A	I318V	318	rs482912	3	0.54	0.13	Benign
3600	Q9Y215 (COLQ)	1VZJ:I	P59Q	7	-	0	0.64	1.61	Disease(CMS5)[MIM:603034 ]

Reference

Jaie Woodard, Chengxin Zhang, and Yang Zhang (2020) ADDRESS: A database of human disease-associated variants incorporating protein structure, binding and folding stabilities.

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