ClinVar Miner

Variants studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance risk factor other not provided total
10189 9953 52220 56608 8288 3 1 11 1 419 130099

Gene and significance breakdown #

Total genes and gene combinations: 682
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance risk factor other not provided total
TTN 368 3588 6087 12077 1464 0 0 0 0 31 21756
DMD 2060 443 2365 3351 449 0 1 0 0 8 8178
NEB 601 562 2240 4963 421 0 0 0 0 9 8084
PLEC 80 16 2965 2033 253 0 0 0 0 13 5329
FLNC 342 90 2022 2109 185 0 0 0 0 7 4664
LAMA2 537 512 1134 2309 151 0 0 0 0 12 4447
SYNE1 115 41 2248 1721 393 0 0 0 0 2 4276
SYNE2 2 5 2113 1278 412 0 0 0 0 4 3574
COL12A1 64 36 1451 1351 139 0 0 0 0 18 2996
COL6A3 94 50 1145 1374 251 0 0 0 0 9 2855
SDHA 159 76 1337 895 57 0 0 0 0 8 2464
NEB, RIF1 220 235 578 1309 113 0 0 0 0 5 2230
COL6A2 156 81 658 827 116 0 0 0 0 8 1735
CAPN3 314 277 522 626 41 0 0 0 0 15 1560
COL6A1 114 60 350 744 284 0 0 0 0 6 1511
RYR1 146 204 799 153 98 0 0 4 0 19 1285
DYSF 225 364 500 132 88 0 0 0 0 9 1166
SMCHD1 56 21 562 483 50 0 0 0 0 1 1166
ANO5 124 78 580 342 53 1 0 0 0 9 1126
POMGNT1, TSPAN1 98 162 346 545 19 0 0 0 0 2 1064
BAG3 91 9 620 319 47 0 0 0 0 1 1052
MYH2, MYHAS 49 19 630 355 33 0 0 0 0 0 1051
POMT1 129 107 345 459 61 0 0 0 0 0 1025
POMT2 84 84 378 475 45 0 0 0 0 3 1020
DES 86 47 548 303 29 0 0 0 0 4 981
FKRP 143 137 383 393 16 0 0 0 0 1 972
GNE 130 143 377 410 18 1 0 0 0 12 966
LDB3 37 4 602 288 46 0 0 0 0 0 957
DOK7 81 38 294 500 42 0 0 0 0 2 933
MEGF10 35 17 529 326 46 0 0 0 0 0 899
FKTN 90 84 386 340 31 0 0 0 0 0 869
LARGE1 56 11 300 483 37 0 0 0 0 1 864
ATP2A1 52 18 372 319 24 0 0 0 0 4 754
ITGA7 34 21 348 313 48 0 0 0 0 3 747
TRAPPC11 42 28 351 307 35 0 0 0 0 0 744
SGCA 97 142 194 330 20 0 0 0 0 0 692
MTM1 178 75 129 265 66 0 0 0 0 2 674
BIN1 8 6 339 279 39 0 0 0 0 2 633
STIM1 22 14 317 245 29 0 0 0 0 2 621
KBTBD13 4 3 370 184 78 0 0 0 0 1 610
CACNA1S 17 19 342 155 72 0 0 0 0 0 599
DAG1 11 6 336 208 15 0 0 0 0 2 569
CCDC78 1 1 293 232 31 0 0 0 0 2 555
TNPO3 3 5 278 242 30 0 0 0 0 1 551
SUN1 0 0 275 216 51 0 0 0 0 0 542
VCP 20 17 178 294 36 0 0 0 0 1 539
SELENON 80 47 219 201 28 0 0 0 0 1 533
CNTN1 18 5 216 258 30 0 0 0 0 3 527
EMD 82 15 200 237 25 0 0 0 0 0 525
SGCD 31 19 209 255 26 0 0 0 0 0 524
HADHB 64 70 137 248 22 0 0 0 0 0 503
ACTA1 130 84 167 119 21 0 0 0 0 7 478
RBCK1 29 9 185 230 21 0 0 0 0 0 471
KLHL40 30 20 245 164 21 0 0 0 0 1 468
SGCG 74 69 142 184 29 0 0 0 0 0 456
AMPD1 5 5 277 164 27 0 0 0 0 2 454
GAREM2, HADHA 66 32 93 269 18 0 0 0 0 0 452
FHL1 78 16 186 156 16 0 0 0 0 1 448
PRICKLE2 2 0 261 163 21 0 0 0 0 0 446
GH-LCR, SCN4A 31 23 310 70 75 0 0 0 0 3 439
SGCB 68 57 133 194 9 0 0 0 0 1 423
HADHA 54 46 75 255 8 0 0 0 0 0 420
MATR3 3 1 213 166 49 0 0 0 0 0 419
HNRNPDL 2 0 227 176 13 0 0 0 0 0 409
POMGNT2 24 4 228 144 13 0 0 0 0 0 408
TAFAZZIN 47 49 160 166 10 0 0 0 0 0 405
B3GALNT2 41 20 193 144 12 0 0 0 0 0 400
DNAJB6 14 4 209 141 35 0 0 0 0 0 394
MYOT, PKD2L2-DT 7 4 229 137 22 0 0 0 0 1 378
CRPPA 52 16 155 134 22 0 0 0 0 0 373
CHKB, CHKB-CPT1B 30 8 165 149 18 0 0 0 0 1 349
TPM3 22 18 194 107 26 0 0 0 0 12 345
LMOD3 27 4 176 95 16 0 0 0 0 0 314
MYH7 34 31 190 54 49 0 0 0 0 6 311
HNRNPA2B1 5 1 81 196 23 0 0 0 0 0 305
GMPPB 34 21 127 117 6 0 0 0 0 0 295
LIMS2 2 2 164 109 17 0 0 0 0 0 293
TNNT1 24 14 110 139 14 0 0 0 0 1 286
LMNA 44 33 176 32 12 0 0 0 0 8 285
LOC101927055, TTN 3 30 63 178 22 0 0 0 0 0 276
KLHL41 24 6 129 103 15 0 0 0 0 0 273
GTPBP1, SUN2 0 0 136 93 17 0 0 0 0 0 246
TOR1AIP1 5 13 109 108 15 0 0 0 0 0 245
TIA1 1 0 118 110 16 0 0 0 0 0 244
POMK 28 2 125 81 8 0 0 0 0 1 237
POMGNT1 21 31 100 95 5 0 0 0 0 0 236
STAC3 12 4 105 105 9 0 0 0 0 5 233
GYG1 25 6 94 95 15 0 0 0 0 0 230
LOC126806422, TTN 1 48 49 134 15 0 0 0 0 0 226
SCN4A 13 10 168 38 31 0 0 0 0 1 226
LOC126806423, TTN 5 47 50 122 13 0 0 0 0 0 220
ASTN2, TRIM32 9 23 176 10 6 0 0 0 0 1 219
LOC126806425, TTN 2 46 50 116 21 0 0 0 0 0 208
CHCHD10 4 1 111 78 11 0 0 0 0 4 207
ORAI1 5 7 107 74 8 0 0 0 0 1 199
LOC126806424, TTN 4 41 49 107 14 0 0 0 0 0 196
POLG 42 68 84 6 4 0 0 0 0 6 192
LOC130008987, ORAI1 3 0 125 57 4 0 0 0 0 1 188
DM1, DMPK, LOC107075317, LOC109461477 176 0 0 0 12 0 0 0 0 0 187
LOC126806430, TTN 0 12 47 128 20 0 0 0 0 0 187
B4GAT1 4 1 84 91 6 0 0 0 0 1 184
SUN2 0 0 90 79 13 0 0 0 0 0 182
LOC126862500, MYH2, MYHAS 12 10 101 56 6 0 0 0 0 0 179
LOC126806431, TTN 0 15 41 121 11 0 0 0 0 0 176
LOC126806421, TTN 1 33 45 93 12 0 0 0 0 0 173
LOC126806426, TTN 1 33 36 94 8 0 0 0 0 0 163
LOC129935183, TTN 3 14 105 38 7 0 0 0 0 0 159
LOC112577517, TOR1AIP1 8 0 92 52 3 0 0 0 0 0 153
NDUFA10 0 0 123 14 16 0 0 0 0 0 153
LOC126806420, TTN 1 34 38 78 15 0 0 0 0 0 150
LOC126806427, TTN 3 29 24 94 13 0 0 0 0 0 148
LOC126806433, TTN 2 25 33 91 4 0 0 0 0 0 148
ITGA7, LOC126861535 7 5 70 54 7 0 0 0 0 0 142
LOC126806428, TTN 1 11 30 102 10 0 0 0 0 0 138
MYPN 9 5 99 14 11 0 0 0 0 1 138
KIF21A 8 2 57 11 56 0 0 0 0 0 132
DNM2 15 6 55 10 47 0 0 0 0 1 126
RRM2B 4 9 65 13 36 0 0 0 0 1 125
CFL2 8 1 70 35 12 0 0 0 0 0 124
TYMP 44 37 40 4 8 0 0 0 0 0 123
AMPD3 1 1 90 8 14 1 0 0 0 0 113
LDB3, LOC110121486 2 1 68 40 8 0 0 0 0 2 111
TWNK 15 11 53 6 29 0 0 0 0 1 109
LAMA2, LOC123864065 14 10 27 51 5 0 0 0 0 2 104
ACTN2 2 2 78 12 11 0 0 0 0 0 103
MYO18B 12 17 56 4 14 0 0 0 0 2 102
NUBPL 1 2 86 4 10 0 0 0 0 1 102
LOC124418421, STIM1 0 0 74 24 2 0 0 0 0 0 99
LOC126806429, TTN 1 3 27 69 10 0 0 0 0 0 99
CLCN1 5 3 27 22 28 0 0 0 0 14 98
DPM2 8 2 41 45 6 0 0 0 0 0 97
PUS1 5 23 47 19 13 0 0 0 0 0 95
LOC126806373, NEB 5 3 31 63 3 0 0 0 0 0 92
LOC126807526, MATR3 1 0 53 37 3 0 0 0 0 0 88
CAPN3, LOC126862115 18 9 29 33 3 0 0 0 0 0 86
LOC126859837, SYNE1 3 1 41 38 6 0 0 0 0 0 85
SLC25A4 6 1 47 6 26 0 0 0 0 0 85
COL12A1, LOC126859712 1 0 45 32 5 0 0 0 0 0 83
VMA21 9 1 34 25 14 0 0 0 0 0 81
LOC126862501, MYH2, MYHAS 5 4 37 30 5 0 0 0 0 0 78
NDUFS1 1 2 56 12 5 0 0 0 0 0 75
LOC129935182, TTN 4 9 49 14 1 0 0 0 0 0 74
LOC129992585, SGCB 19 13 20 29 0 0 0 0 0 0 72
LMOD3, LOC126806710 7 1 33 24 7 0 0 0 0 0 71
LOC130067862, SCO2, TYMP 30 13 25 7 6 0 0 0 0 0 71
LOC126807238, TRAPPC11 2 1 31 33 5 0 0 0 0 0 70
NCAPH2, SCO2 16 25 31 3 0 0 0 0 0 0 69
TMEM43 2 1 47 7 8 0 0 0 0 0 65
ESR1, SYNE1 0 0 37 14 12 0 0 0 0 0 62
NDUFAF4 1 0 46 8 7 0 0 0 0 0 62
DOK7, LOC129992118 4 1 25 29 3 0 0 0 0 0 61
COL6A3, LOC126806573 1 0 20 34 5 0 0 0 0 0 60
LOC126861897, MHRT, MYH7 13 5 36 3 5 0 0 0 0 3 60
TCAP 4 9 36 3 3 0 0 0 0 1 55
DPM3 13 1 27 11 3 0 0 0 0 1 53
MT-TT 1 0 6 10 36 0 0 0 0 0 53
SDHD 7 6 37 1 3 0 0 0 0 0 52
ZC4H2 26 11 15 0 1 0 0 0 0 1 52
FOXRED1 2 1 44 2 2 0 0 0 0 0 50
NDUFS2 0 1 43 2 3 0 0 0 0 0 49
ASIC4, SPEG 6 5 28 1 7 0 0 0 0 1 45
NDUFS4 9 21 12 1 4 0 0 0 0 1 45
YARS2 7 4 26 4 8 0 0 0 0 0 45
LOC129997480, SYNE1 1 0 21 22 3 0 0 0 0 0 44
NDUFV1 0 4 38 0 2 0 0 0 0 1 44
TPM2 8 5 18 6 8 0 0 0 0 1 44
DNASE1L1, LOC130068869, TAFAZZIN 2 4 20 18 1 0 0 0 0 0 43
MILR1, POLG2 4 1 23 4 13 0 0 0 0 0 43
LAMA2, LOC126859784 7 3 12 21 0 0 0 0 0 0 42
POLG, POLGARF 3 13 18 6 2 0 0 0 0 0 42
COL6A3, LOC122889011 11 8 10 12 1 0 0 0 0 0 41
CRYAB 7 1 26 3 6 0 0 0 0 3 40
MYF6 0 0 26 12 3 0 0 0 0 0 39
SPEG 4 1 30 1 2 0 0 0 0 1 39
DMD, LOC129391296 33 4 1 0 0 0 0 0 0 0 38
B3GALNT2, TBCE 2 2 22 11 0 0 0 0 0 0 36
CRPPA, LOC129998005 6 0 19 8 3 0 0 0 0 0 36
DOK7, LOC126806951 2 2 12 19 2 0 0 0 0 0 36
MSTO1 11 10 22 1 1 0 0 0 0 0 36
NDUFAF1 0 0 28 4 4 0 0 0 0 0 36
MT-TH 1 1 12 4 16 0 0 0 0 2 35
SDHB 9 5 17 4 2 0 0 0 0 0 34
ADSS1 5 5 20 0 5 0 0 0 0 1 33
LOC126859838, SYNE1 1 0 14 19 1 0 0 0 0 0 33
LOC126862902, RYR1 4 5 15 6 7 0 0 0 0 0 33
LOC129935184, TTN 2 0 21 12 4 0 0 0 0 1 33
MT-TW 7 1 8 5 13 0 0 0 0 1 33
BVES 4 2 24 0 3 0 0 0 0 0 32
CAV3, OXTR 9 4 20 3 2 0 0 0 0 0 32
MHRT, MYH7 4 3 21 5 5 0 0 0 0 1 32
MT-TF 4 3 5 6 15 0 0 0 0 2 32
MT-TK 6 2 6 7 10 0 0 0 0 6 31
FLNC, LOC129999273 2 0 12 14 2 0 0 0 0 0 30
MT-TL1 12 4 8 4 6 0 0 0 0 6 30
NDUFAF3 1 0 29 0 0 0 0 0 0 0 30
LOC130001334, PLEC 1 0 14 11 3 0 0 0 0 0 29
MT-TC 1 0 6 4 19 0 0 0 0 0 29
MT-TG 0 1 11 5 11 0 0 0 0 0 28
MT-TV 4 3 12 6 5 0 0 0 0 2 28
ANXA11 2 0 1 1 23 0 0 0 0 0 27
MT-TD 0 1 9 6 11 0 0 0 0 0 27
MT-TQ 1 1 4 4 17 0 0 0 0 1 27
DNA2 5 4 9 6 3 0 0 0 0 1 26
LOC129999289, TNPO3 0 0 11 14 1 0 0 0 0 0 26
RXYLT1 9 4 12 1 1 0 0 0 0 1 26
COX15 5 15 7 0 2 0 0 0 0 0 25
DMD, MIR3915, MIR548F5 23 0 2 0 0 0 0 0 0 0 25
MT-TS2 3 2 7 2 13 0 0 0 0 1 25
NDUFS3 0 1 24 0 0 0 0 0 0 0 25
LOC130056177, POMT2 0 0 13 6 4 0 0 0 0 0 23
MT-TI 5 3 5 2 10 0 0 0 0 0 23
MT-TS1 4 0 6 3 10 0 0 0 0 1 23
PNPLA8 5 5 10 1 2 0 0 0 0 0 23
TK2 11 6 3 1 3 0 0 0 0 0 23
BCL2L2-PABPN1, PABPN1 10 1 14 0 0 0 0 0 0 0 22
CAPN3, LOC130056921 6 3 6 11 1 0 0 0 0 0 22
CASQ1 3 2 16 2 0 0 0 0 0 0 22
DNM1L, YARS2 0 0 5 17 7 0 0 0 0 0 22
JAG2 6 4 17 0 0 0 0 0 0 0 22
LOC126859921, SUN1 0 0 13 8 1 0 0 0 0 0 22
MT-TL2 3 1 6 2 9 0 0 0 0 1 22
NDUFS6 0 0 16 5 1 0 0 0 0 0 22
TUBB3 8 4 5 0 0 0 0 0 0 13 22
INPP5K 9 3 8 0 2 0 0 0 0 0 21
LMNA, LOC129931597 3 6 10 1 1 0 0 0 0 1 21
LOC129935185, TTN 0 1 15 5 1 0 0 0 0 0 21
MICU1 14 7 4 0 1 0 0 0 0 0 21
MT-TA 3 0 6 4 8 0 0 0 0 0 21
MT-TR 3 3 3 4 8 0 0 0 0 0 21
MT-TY 3 0 9 5 4 0 0 0 0 0 21
PYROXD1 7 2 5 0 8 0 0 0 0 0 21
LOC126861898, MYH7 2 6 10 3 2 0 0 0 0 0 20
MYL2 4 2 12 1 1 0 0 0 0 0 20
NDUFAF5 0 3 8 7 2 0 0 0 0 1 20
NDUFS8 0 0 19 0 1 0 0 0 0 0 20
LOC126861242, NDUFV1 3 2 14 1 0 0 0 0 0 0 19
MT-TE 5 3 2 2 9 0 0 0 0 0 19
MT-TP 2 1 9 2 6 0 0 0 0 0 19
MYBPC1 4 1 4 2 9 0 0 0 0 0 19
NDUFS7 0 0 17 0 2 0 0 0 0 0 19
COL6A2, FTCD 1 0 1 8 11 0 0 0 0 0 18
DGUOK 9 5 3 1 1 0 0 0 0 0 18
GMPPB, LOC129936764 2 0 6 8 2 0 0 0 0 0 18
LMNA, LOC126805877 3 4 10 3 1 0 0 0 0 0 18
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 0 0 0 0 17
NDUFAF2 0 1 14 2 0 0 0 0 0 0 17
RYR3 4 0 14 0 0 0 0 0 0 0 17
TOP3A 3 2 3 2 7 0 0 0 0 0 17
CRPPA, LOC129998004 4 0 8 4 0 0 0 0 0 0 16
LOC126859836, SYNE1 0 0 7 6 4 0 0 0 0 0 16
LOC130056175, POMT2 4 6 8 4 0 0 0 0 0 0 16
MT-CYB 3 3 3 0 5 0 0 0 0 2 16
MT-ND5 7 3 4 0 0 0 0 0 0 7 16
DMPK 5 1 7 0 2 0 0 0 0 0 15
LOC126806432, TTN 0 0 12 2 1 0 0 0 0 0 15
MT-TN 1 0 5 2 7 0 0 0 0 0 15
NDUFV2 0 0 11 2 2 0 0 0 0 0 15
BIN1, LOC122819150 0 0 13 1 0 0 0 0 0 0 14
FLAD1 10 1 2 1 0 0 0 0 0 0 14
LOC130065089, TNNT1 4 0 5 5 0 0 0 0 0 0 14
MT-TM 1 1 5 1 6 0 0 0 0 0 14
MYH2 1 1 12 0 0 0 0 0 0 0 14
NDUFA11 0 0 14 0 0 0 0 0 0 0 14
ACAD9 5 7 1 0 0 0 0 0 0 0 13
CEP63, KY 4 1 5 0 3 0 0 0 0 0 13
LOC129391106, RYR1 1 1 7 4 2 0 0 0 0 0 13
LOC129993885, NDUFS4 1 3 8 0 1 0 0 0 0 0 13
NDUFA2, TMCO6 0 0 11 0 2 0 0 0 0 0 13
SACS, SGCG 1 0 2 7 3 0 0 0 0 0 13
SDHAF1 1 0 10 1 1 0 0 0 0 0 13
​intergenic 9 0 2 0 1 0 0 0 0 0 12
DPM2, LOC130002675 0 0 11 0 1 0 0 0 0 0 12
ISCU 2 0 5 2 4 0 0 0 0 2 12
LOC130062084, SMCHD1 1 1 4 6 1 0 0 0 0 0 12
LOC112552175, NDUFA11 0 0 8 1 2 0 0 0 0 0 11
LOC129935186, TTN 0 2 3 7 1 0 0 0 0 0 11
LOC130067862, TYMP 6 3 4 1 0 0 0 0 0 0 11
LOC130067864, TYMP 7 4 3 0 1 0 0 0 0 0 11
ZFPM2 6 1 4 1 0 0 0 0 0 0 11
CCDC174 0 0 5 1 4 0 0 0 0 0 10
COL25A1 4 3 3 0 0 0 0 0 0 0 10
CRPPA, LOC129389757 1 0 4 5 0 0 0 0 0 0 10
GFER 5 2 3 0 1 0 0 0 0 2 10
LOC129935473, NDUFS1 0 0 9 0 1 0 0 0 0 0 10
POGLUT1 7 1 0 0 2 0 0 0 0 0 10
CHKB, CHKB-CPT1B, LOC130067882 1 1 2 6 0 0 0 0 0 0 9
DNMT3B 2 1 5 1 0 0 0 0 0 0 9
LOC130009240, PUS1 1 3 2 2 1 0 0 0 0 0 9
LOC130055816, SYNE2 0 0 6 0 3 0 0 0 0 0 9
LOC130062145, NDUFV2 0 0 9 0 0 0 0 0 0 0 9
LOC130065433, NDUFAF5 0 0 6 3 0 0 0 0 0 0 9
MAP3K20 3 0 0 1 5 0 0 0 0 0 9
PAX7 4 1 4 0 1 0 0 0 0 0 9
SQSTM1 1 1 2 2 3 0 0 0 0 0 9
CAV3 4 1 2 1 0 0 0 0 0 1 8
COL12A1, LOC129996730 1 1 4 2 0 0 0 0 0 0 8
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040 5 0 0 0 3 0 0 0 1 0 8
DNM2, LOC130063529 0 0 7 0 1 0 0 0 0 0 8
FXR1 4 0 3 1 0 0 0 0 0 0 8
GYG1, LOC129937737 0 3 2 3 0 0 0 0 0 0 8
HMGCR 7 0 1 0 0 0 0 0 0 0 8
LOC132090059, PUS1 1 2 3 2 3 0 0 0 0 0 8
MT-ND1 4 4 0 0 0 0 0 0 0 3 8
PLS3 5 3 5 0 0 0 0 0 0 0 8
SCO2, TYMP 0 1 5 3 1 0 0 0 0 0 8
SVIL 2 0 4 2 0 0 0 0 0 0 8
TRIP4 4 0 2 1 1 0 0 0 0 0 8
UNC45B 5 2 2 0 1 0 0 0 0 0 8
ALDH1A2 4 0 3 0 0 0 0 0 0 0 7
COA6 3 0 1 1 2 0 0 0 0 0 7
DMD, MIR548F5 6 1 0 0 0 0 0 0 0 0 7
DYSF, LOC122787137 1 3 4 1 1 0 0 0 0 0 7
GAMT, NDUFS7 0 0 0 7 1 0 0 0 0 0 7
HADHA, HADHB 2 0 2 2 1 0 0 0 0 0 7
HMGCS1 7 0 0 0 0 0 0 0 0 0 7
HNRNPA1 2 2 2 1 0 0 0 0 0 0 7
LOC126861897, MYH7 0 1 5 1 1 0 0 0 0 0 7
LOC130000896, RRM2B 0 2 5 0 0 0 0 0 0 0 7
LOC130064279, SDHAF1 2 1 4 0 0 0 0 0 0 0 7
LOC130064357, RYR1 0 0 6 1 1 0 0 0 0 0 7
POPDC1 2 1 4 2 0 0 0 0 0 0 7
RNASEH1 3 1 2 0 2 0 0 0 0 0 7
SLC16A1 2 1 0 2 2 0 0 0 0 0 7
BVES, POPDC3 6 0 0 0 0 0 0 0 0 0 6
DMD, LOC129391296, LOC129391297 5 1 0 0 0 0 0 0 0 0 6
HACD1 6 1 0 0 0 0 0 0 0 0 6
LOC130000897, RRM2B 0 0 1 0 5 0 0 0 0 0 6
LOC130006217, NDUFV1 0 0 5 0 1 0 0 0 0 0 6
MTMR14 0 1 4 1 0 0 0 0 0 0 6
MYOD1 3 2 1 0 0 0 0 0 0 0 6
MYRF 0 6 0 0 0 0 0 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 4 0 0 0 0 0 6
DMD, MIR3915 3 1 1 0 0 0 0 0 0 0 5
ERCC8, NDUFAF2 1 0 1 1 2 0 0 0 0 0 5
FANCI, POLG 0 0 2 0 3 0 0 0 0 0 5
GFER, LOC130058203 2 2 1 1 0 0 0 0 0 0 5
LOC129993501, SLC25A4 0 0 2 0 3 0 0 0 0 0 5
LOC130005165, STIM1 0 0 3 2 0 0 0 0 0 0 5
LOC130056176, POMT2 0 0 0 5 0 0 0 0 0 0 5
LOC130064281, SDHAF1 0 0 3 1 1 0 0 0 0 0 5
TIMMDC1 0 1 4 0 0 0 0 0 0 0 5
TNNI3, TNNT1 1 0 1 2 3 0 0 0 0 0 5
DGUOK, LOC129934096 2 1 1 0 0 0 0 0 0 0 4
DNAJB4 4 0 0 0 0 0 0 0 0 0 4
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 2 2 0 0 0 0 0 0 0 4
FOXRED1, LOC130007026 0 0 3 0 1 0 0 0 0 0 4
FREM2 0 2 0 0 0 0 0 2 0 0 4
JPH1 4 3 0 0 0 0 0 0 0 0 4
LARGE1, LOC130067281 0 0 4 0 0 0 0 0 0 0 4
LOC114827850, MYL2 0 2 2 0 0 0 0 0 0 0 4
LOC129931761, NDUFS2 0 0 3 0 1 0 0 0 0 0 4
LOC130067866, TYMP 0 0 4 0 0 0 0 0 0 0 4
SMPX 4 0 0 0 0 0 0 0 0 0 4
TUBA1A 2 2 0 0 0 0 0 0 0 0 4
ACAD9, CFAP92 1 2 0 0 0 0 0 0 0 0 3
ACTA1, LOC122152321 0 0 1 0 2 0 0 0 0 0 3
ATP2A1, RABEP2 1 0 1 0 1 0 0 0 0 0 3
BET1 3 0 0 0 0 0 0 0 0 0 3
CHKB 1 0 2 0 0 0 0 0 0 0 3
COL6A1, COL6A2, COL6A2-DT, LOC121853033, LOC130066866 1 0 2 0 0 0 0 0 0 0 3
CYB5R3 1 1 1 0 0 0 0 0 0 0 3
DES, DES-LCR 0 0 2 1 0 0 0 0 0 0 3
DM1, DMPK, LOC107075317 0 0 2 1 0 0 0 0 0 0 3
DMD, LOC121627963, LOC125446277, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 1 1 0 0 0 0 0 0 0 3
DMD, LOC129391297 3 0 0 0 0 0 0 0 0 0 3
DOK7, LOC126806951, LOC129992118 3 0 0 0 0 0 0 0 0 0 3
FDX2, FDX2-ZGLP1 2 1 1 0 1 0 0 0 0 0 3
FKTN, TAL2, TMEM38B 2 0 1 0 0 0 0 0 0 0 3
FRAS1 0 0 0 0 0 0 0 3 0 0 3
GATA6 3 0 0 0 0 0 0 0 0 0 3
GPR17, LIMS2 0 0 3 0 0 0 0 0 0 0 3
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC132090179, SACS, SGCG 2 0 1 0 0 0 0 0 0 0 3
LOC112081413, NDUFS8 0 0 2 1 0 0 0 0 0 0 3
LOC126860469, ZFPM2 1 0 1 1 0 0 0 0 0 0 3
LOC126861339, SDHD 0 0 2 0 1 0 0 0 0 0 3
LOC129930471, POMGNT1 1 0 2 0 0 0 0 0 0 0 3
LOC129996857, NDUFAF4 0 0 3 0 0 0 0 0 0 0 3
LOC130064280, SDHAF1 3 0 0 0 0 0 0 0 0 0 3
LOC132089829, MYPN 0 0 2 0 1 0 0 0 0 0 3
MAMLD1, MTM1 2 0 1 0 0 0 0 0 0 0 3
MATR3, SNHG4 0 0 2 0 1 0 0 0 0 0 3
MRPL36, NDUFS6 0 0 2 1 0 0 0 0 0 0 3
MT-CO1 0 2 0 0 0 0 0 0 0 1 3
MT-CO3 1 0 1 0 0 0 0 0 0 1 3
MT-ND2 2 1 0 0 0 0 0 0 0 0 3
MT-ND6 1 1 1 0 0 0 0 0 0 1 3
MYL1 2 0 1 0 1 0 0 0 0 0 3
PHOX2A 3 0 1 0 0 0 0 0 0 0 3
SCO2 0 0 1 1 2 0 0 0 0 0 3
TMEM126B 2 0 1 0 0 0 0 0 0 0 3
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 0 0 0 0 2
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 0 0 0 0 2
ANXA11, LOC126860977 0 0 0 0 2 0 0 0 0 0 2
ARL5A, CACNB4, NEB 2 0 0 0 0 0 0 0 0 0 2
ASCC3 0 1 1 0 0 0 0 0 0 0 2
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 0 0 0 0 2
BIN1, LOC112806045 0 0 2 0 0 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 0 0 0 2
CAPN3, GANC 1 1 0 0 0 0 0 0 0 0 2
CAPN3, LOC126862115, LOC130056920, LOC130056921 2 0 0 0 0 0 0 0 0 0 2
CD99L2, GPR50, HMGB3, MAMLD1, MTM1, MTMR1, VMA21 1 0 2 0 0 0 0 0 0 0 2
CELSR1 0 0 2 0 0 0 0 0 0 0 2
CEP63, KY, LOC123038188 0 1 0 0 1 0 0 0 0 0 2
CFL2, LOC130055474, LOC130055475 1 0 1 0 0 0 0 0 0 0 2
CHRNA1 2 0 0 0 0 0 0 0 0 0 2
CLCN1, LOC123956257 0 0 2 0 0 0 0 0 0 0 2
CNBP 0 0 1 0 1 0 0 0 0 0 2
CRPPA, LOC129389758 2 0 0 0 0 0 0 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929041 0 0 1 1 0 0 0 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929042 0 0 2 0 0 0 0 0 0 0 2
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 1 0 0 0 0 0 0 0 0 2
DNMT3B, LOC126863014 1 0 1 0 0 0 0 0 0 0 2
EDAR, RANBP2 1 1 0 0 0 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 0 0 0 2
FDX2, FDX2-ZGLP1, LOC130063486 0 0 1 0 1 0 0 0 0 0 2
FGFRL1 0 0 2 0 0 0 0 0 0 0 2
FKRP, LOC130064775, STRN4 1 0 1 0 0 0 0 0 0 0 2
GNE, LOC130001749 0 0 1 1 0 0 0 0 0 0 2
GOSR2, LRRC37A2 0 0 0 0 0 0 0 0 0 2 2
HGSNAT, POMK 0 0 2 0 0 0 0 0 0 0 2
HSPB8 1 1 0 0 0 0 0 0 0 0 2
LARGE1, LOC130067280 0 0 0 0 2 0 0 0 0 0 2
LARS2 0 1 1 0 0 0 0 0 0 0 2
LDB3, LOC110121486, LOC130004243, LOC132089876 0 0 2 0 0 0 0 0 0 0 2
LOC121587601, SGCA 0 0 1 1 0 0 0 0 0 0 2
LOC126862156, TRIP4 0 0 1 0 1 0 0 0 0 0 2
LOC129936729, NDUFAF3 0 0 2 0 0 0 0 0 0 0 2
LOC129936730, NDUFAF3 0 0 2 0 0 0 0 0 0 0 2
LOC129936731, NDUFAF3 0 0 2 0 0 0 0 0 0 0 2
LOC129992584, LOC129992585, SGCB 1 0 1 0 0 0 0 0 0 0 2
LOC129995449, SQSTM1 0 0 2 0 0 0 0 0 0 0 2
LOC130001690, VCP 0 0 0 2 0 0 0 0 0 0 2
LOC130009363, LOC130009364, SGCG 2 0 0 0 0 0 0 0 0 0 2
LOC130067861, SCO2 0 0 2 0 0 0 0 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 0 0 0 0 2
LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2 2 0 0 0 0 0 0 0 0 0 2
LZTR1 1 0 1 0 0 0 0 0 0 0 2
MIPEP, PCOTH, SACS, SGCG, TNFRSF19 2 0 0 0 0 0 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 0 0 0 2
MT-ND3 0 2 0 0 0 0 0 0 0 0 2
MT-ND4 2 0 0 0 0 0 0 0 0 0 2
MVK 0 0 1 0 1 0 0 0 0 0 2
MYH10 0 0 2 0 0 0 0 0 0 0 2
MYO15B 0 0 2 0 0 0 0 0 0 0 2
MYOT 0 0 2 0 0 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 2 1 0 0 0 0 0 2
PGAP2, RHOG, STIM1 0 0 2 0 0 0 0 0 0 0 2
PMM2 0 2 0 0 0 0 0 0 0 0 2
RBCK1, TBC1D20 1 0 1 0 0 0 0 0 0 0 2
RRM1 2 1 0 0 0 0 0 0 0 0 2
SLC25A10 0 2 0 0 0 0 0 0 0 0 2
SLIRP 0 2 0 0 0 0 0 0 0 0 2
TNNC2 2 0 0 0 0 0 0 0 0 0 2
ABCA1, FKTN, FSD1L, SLC44A1, TAL2, TMEM38B 0 0 1 0 0 0 0 0 0 0 1
ABCB10, ACTA1, AGT, ARV1, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, FSAF1, GALNT2, GNPAT, NUP133, PGBD5, SPRTN, TAF5L, TRIM67, TSNAX, TTC13, URB2 0 0 1 0 0 0 0 0 0 0 1
ABCB6, ANKZF1, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CNOT9, CNPPD1, CRYBA2, CTDSP1, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, IHH, MIR26B, MIR375, NHEJ1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, STK16, STK36, TMBIM1, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 1 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 0 0 1
ABHD5, ACKR2, ANO10, CCDC13, CCK, CTNNB1, CYP8B1, GASK1A, HHATL, HIGD1A, KLHL40, KRBOX1, LYZL4, NKTR, POMGNT2, SEC22C, SNRK, SS18L2, TRAK1, ULK4, VIPR1, ZBTB47, ZNF662 0 0 1 0 0 0 0 0 0 0 1
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 0 0 1
ACKR3, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 0 0 1
ACKR3, COL6A3, COPS8, COPS8-DT, LOC110121230, LOC112840913, LOC122889010, LOC122889011, LOC126806571, LOC126806572, LOC126806573, LOC129935916, LOC129935917, LOC93463 0 0 1 0 0 0 0 0 0 0 1
ACOT9, ADGRG2, APOO, ARX, BCLAF3, BEND2, CBLL2, CDKL5, CNKSR2, CXorf58, DCAF8L1, DCAF8L2, DDX53, DMD, EIF1AX, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, KLHL34, LINC01456, LOC101928389, LOC105373150, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC113875017, LOC113875018, LOC113875019, LOC114022706, LOC116309148, LOC116309149, LOC116309150, LOC121627962, LOC121627963, LOC121853052, LOC125446274, LOC125446275, LOC125446276, LOC125446277, LOC126863217, LOC126863218, LOC126863219, LOC126863220, LOC126863221, LOC126863222, LOC126863223, LOC126863224, LOC126863225, LOC126863226, LOC126863227, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC127933115, LOC129391296, LOC130067998, LOC130067999, LOC130068000, LOC130068001, LOC130068002, LOC130068003, LOC130068004, LOC130068005, LOC130068006, LOC130068007, LOC130068008, LOC130068009, LOC130068010, LOC130068011, LOC130068012, LOC130068013, LOC130068014, LOC130068015, LOC130068016, LOC130068017, LOC130068018, LOC130068019, LOC130068020, LOC130068021, LOC130068022, LOC130068023, LOC130068024, LOC130068025, LOC130068026, LOC130068027, LOC130068028, LOC130068029, LOC130068030, LOC130068031, LOC130068032, LOC130068033, LOC130068034, LOC130068035, LOC130068036, LOC130068037, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, LOC130068043, LOC130068044, LOC130068045, LOC130068046, LOC130068047, LOC130068048, LOC130068049, LOC130068050, LOC130068051, LOC130068052, LOC130068053, LOC130068054, LOC130068055, LOC130068056, LOC130068057, LOC130068058, LOC130068059, LOC130068060, LOC130068061, LOC130068062, LOC130068063, LOC130068064, LOC130068065, LOC130068066, LOC130068067, LOC130068068, LOC130068069, LOC130068070, LOC130068071, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, LOC729609, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MAP3K15, MAP7D2, MBTPS2, MIR23C, MIR4666B, MIR4768, MIR6134, NHS, NR0B1, PCYT1B, PDHA1, PDK3, PHEX, PHKA2, POLA1, PPEF1, PPP4R3C, PRDX4, PTCHD1, RAI2, RPS6KA3, RS1, SAT1, SAT1-DT, SCARNA23, SCARNA9L, SCML1, SCML2, SH3KBP1, SMPX, SMS, SUPT20HL1, SUPT20HL2, TAB3, TASL, TRV-TAC1-2, YY2, ZFX 1 0 0 0 0 0 0 0 0 0 1
ACOT9, APOO, ARX, CXorf58, DCAF8L1, DCAF8L2, DMD, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, LOC105373150, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC113875017, LOC113875018, LOC113875019, LOC114022706, LOC116309148, LOC116309149, LOC116309150, LOC121627963, LOC125446276, LOC125446277, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC127933115, LOC129391296, LOC130068044, LOC130068045, LOC130068046, LOC130068047, LOC130068048, LOC130068049, LOC130068050, LOC130068051, LOC130068052, LOC130068053, LOC130068054, LOC130068055, LOC130068056, LOC130068057, LOC130068058, LOC130068059, LOC130068060, LOC130068061, LOC130068062, LOC130068063, LOC130068064, LOC130068065, LOC130068066, LOC130068067, LOC130068068, LOC130068069, LOC130068070, LOC130068071, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MIR4666B, MIR6134, NR0B1, PCYT1B, PDK3, POLA1, PPP4R3C, PRDX4, PTCHD1, SAT1, SAT1-DT, SCARNA23, SUPT20HL1, SUPT20HL2, TAB3, TASL, ZFX 1 0 0 0 0 0 0 0 0 0 1
ADCK5, BOP1, CCDC166, CPSF1, CYC1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, KIFC2, LY6D, LY6E, LY6H, LY6S, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, PYCR3, RECQL4, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 0 0 1 0 0 0 0 0 0 0 1
ADCK5, BOP1, CCDC166, CPSF1, CYC1, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GPAA1, GPIHBP1, GRINA, GSDMD, HGH1, HSF1, KIFC2, MAF1, MAFA, MAPK15, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PUF60, PYCR3, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 1 0 0 0 0 0 0 0 0 0 1
ADCK5, BOP1, CPSF1, CYC1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28, ZFTRAF1 0 0 1 0 0 0 0 0 0 0 1
ADCY5 0 0 1 0 0 0 0 0 0 0 1
ADD1, DOK7, GRK4, HGFAC, HTT, MFSD10, MSANTD1, NOP14, RGS12, SH3BP2 1 0 0 0 0 0 0 0 0 0 1
ADGRF3, DRC1, HADHB, OTOF, SELENOI 1 0 0 0 0 0 0 0 0 0 1
ADGRG4, BRS3, CD40LG, FHL1, HTATSF1, MAP7D3, VGLL1 1 0 0 0 0 0 0 0 0 0 1
ADM2, CHKB, CIMAP1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, SBF1, SCO2, SYCE3, TYMP 1 0 0 0 0 0 0 0 0 0 1
ADSS1, LOC130056631 0 0 1 0 0 0 0 0 0 0 1
AGTR1, ANKUB1, CLRN1, COMMD2, CP, CPA3, CPB1, EIF2A, ERICH6, GPR171, GPR87, GYG1, HLTF, HPS3, IGSF10, MED12L, MINDY4B, P2RY12, P2RY13, P2RY14, PFN2, RNF13, SELENOT, SERP1, SIAH2, TM4SF1, TM4SF18, TM4SF4, TSC22D2, WWTR1 1 0 0 0 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC126860771, LOC129390114, LOC130002649, LOC130002650, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LRSAM1, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 1 0 0 0 0 0 0 0 0 0 1
ALG14 1 0 0 0 0 0 0 0 0 0 1
ALG14, LOC129930989 1 0 0 0 0 0 0 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 0 0 0 0 1
AMT, ARIH2, ARIH2OS, C3orf62, CCDC71, CIMIP7, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 0 0 1
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609 0 1 0 0 0 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LOC129998004, LOC129998005, LOC129998006, LRRC72, SOSTDC1 1 0 0 0 0 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARID3C, B4GALT1, BAG1, CCL19, CCL21, CCL27, CHMP5, CNTFR, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, FAM219A, GALT, IL11RA, KIF24, MYORG, NDUFB6, NFX1, NOL6, NUDT2, PHF24, PRSS3, RIGI, RPP25L, SIGMAR1, SMU1, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, TAF1L, TMEM215, TOPORS, UBAP1, UBAP2, UBE2R2, VCP 0 0 1 0 0 0 0 0 0 0 1
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 0 0 0 0 0 1
ANO5, FANCF, SLC17A6 0 0 1 0 0 0 0 0 0 0 1
ANO5, LOC130005441 0 0 1 0 0 0 0 0 0 0 1
ANTXR2 0 0 0 0 1 0 0 0 0 0 1
AP4S1, ARHGAP5, DTD2, GPR33, HEATR5A, HEATR5A-DT, HECTD1, LINC02313, LOC112267854, LOC121838588, LOC124995355, LOC124995356, LOC124995359, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC129390617, LOC129390618, LOC129390619, LOC130055443, LOC130055444, LOC130055445, LOC130055446, LOC130055447, LOC130055448, LOC130055449, LOC130055450, LOC130055451, LOC130055452, LOC130055453, LOC130055454, MIR624, NUBPL, NUBPL-DT, STRN3 0 0 1 0 0 0 0 0 0 0 1
APOB 0 0 1 0 0 0 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, LAT, NFATC2IP, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 0 0 0 0 1
ARHGAP18, LAMA2, TMEM244 1 0 0 0 0 0 0 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 0 1
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP 0 0 1 0 0 0 0 0 0 0 1
ASCC1 1 0 0 0 0 0 0 0 0 0 1
ASTN2 0 0 1 0 0 0 0 0 0 0 1
ATP13A4 0 0 0 0 1 0 0 0 0 0 1
ATP2A1, ATXN2L, LOC112340393, LOC129390780, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, MIR4721, SH2B1, TUFM 1 0 0 0 0 0 0 0 0 0 1
ATP2A1, LOC130058740, LOC130058741 1 0 0 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, RPL10, TAFAZZIN, TEX28, TKTL1 0 0 1 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 0 1
ATP6V0A4 0 0 0 0 1 0 0 0 0 0 1
ATP6V1F, CALU, CCDC136, FLNC, IRF5, KCP, OPN1SW, TNPO3 0 0 1 0 0 0 0 0 0 0 1
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 0 0 0 0 1
B4GAT1, BBS1, BRMS1, DPP3, MRPL11, NPAS4, PELI3, RIN1, SLC29A2 0 0 1 0 0 0 0 0 0 0 1
BICD2 1 0 0 0 0 0 0 0 0 0 1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 0 0 0 0 1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714 0 0 1 0 0 0 0 0 0 0 1
BMPR1A, LDB3 0 0 1 0 0 0 0 0 0 0 1
BPIFC, C22orf42, DEPDC5, FBXO7, LARGE1, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4, SYN3, TIMP3, YWHAH 0 0 1 0 0 0 0 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 0 0 0 0 1
CAPN3, LOC130056920, LOC130056921 1 0 0 0 0 0 0 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 0 0 0 1 1
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 0 0 0 1
CCDC174, LOC126806614 1 0 0 0 0 0 0 0 0 0 1
CD46 0 0 0 1 0 0 0 0 0 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 0 0 0 1
CHKB, CHKB-CPT1B, LOC130067883 0 0 0 0 1 0 0 0 0 0 1
CHRND 1 0 0 0 0 0 0 0 0 0 1
CLCN5 0 0 0 0 1 0 0 0 0 0 1
CLN8 0 0 0 0 1 0 0 0 0 0 1
CNBP, LOC108644431 1 0 0 0 0 0 0 0 0 0 1
COA5 1 0 0 0 0 0 0 0 0 0 1
COASY 1 0 0 0 0 0 0 0 0 0 1
COL12A1, COX7A2, FILIP1, IMPG1, MYO6, SENP6, TMEM30A 0 0 1 0 0 0 0 0 0 0 1
COL1A1, SGCA 0 0 1 0 0 0 0 0 0 0 1
COL6A2, LOC121853033 0 0 1 0 0 0 0 0 0 0 1
COL6A3, MLPH 0 0 1 0 0 0 0 0 0 0 1
COPS9, GPC1, HDAC4, NDUFA10, OR6B2, OR6B3, OTOS, PRR21 1 0 0 0 0 0 0 0 0 0 1
CRX 0 0 0 0 1 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 0 0 1
CTNNA1 0 0 1 0 0 0 0 0 0 0 1
CYLD, NOD2 0 0 1 0 0 0 0 0 0 0 1
CYP1B1 0 0 1 0 0 0 0 0 0 0 1
DAP3, GON4L, LOC129931572, LOC129931573, MSTO1, SCARNA26A, YY1AP1 1 0 0 0 0 0 0 0 0 0 1
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 1
DEPDC5 0 0 1 0 0 0 0 0 0 0 1
DES, LOC110121267 1 0 0 0 0 0 0 0 0 0 1
DES, SPEG 0 0 1 0 0 0 0 0 0 0 1
DMD, FTHL17 0 0 0 0 1 0 0 0 0 0 1
DMD, FTHL17, GK, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 1
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5 1 0 0 0 0 0 0 0 0 0 1
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5 0 0 1 0 0 0 0 0 0 0 1
DMD, LOC121627963, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 0 0 0 0 0 0 0 0 0 1
DMD, LOC129391296, LOC129391297, MIR3915, MIR548F5 0 1 0 0 0 0 0 0 0 0 1
DMD, LOC129391297, MIR3915, MIR548F5 1 0 0 0 0 0 0 0 0 0 1
DMD, LOC130068083 1 0 0 0 0 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 0 0 0 1
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 0 0 0 0 1
DNAAF5, FAM20C, PDGFA, PRKAR1B, SUN1 0 0 1 0 0 0 0 0 0 0 1
DNAAF5, SUN1 0 0 1 0 0 0 0 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 1 0 0 0 0 0 0 0 1
DPAGT1 1 0 0 0 0 0 0 0 0 0 1
DSP 0 1 0 0 0 0 0 0 0 0 1
DTHD1 0 0 1 0 0 0 0 0 0 0 1
DYSF, LOC110121121 1 0 0 0 0 0 0 0 0 1 1
DYSF, LOC122787136 1 0 0 0 0 0 0 0 0 0 1
EMD, LOC107988033, LOC130068862, LOC130068863, LOC130068864 1 0 0 0 0 0 0 0 0 0 1
EMD, LOC130068864 0 0 1 0 0 0 0 0 0 0 1
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1 1 0 0 0 0 0 0 0 0 0 1
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 1 0 0 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 0 0 0 0 1
EXOSC3 1 0 0 0 0 0 0 0 0 0 1
FARS2, LOC126859565 0 1 0 0 0 0 0 0 0 0 1
FBN1 0 1 0 0 0 0 0 0 0 0 1
FBXL4 0 1 0 0 0 0 0 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 0 1
FGF21, LOC109279247 0 0 1 0 0 0 0 0 0 0 1
FKBP14 1 0 0 0 0 0 0 0 0 0 1
FKTN, FSD1L, LOC130002286, LOC130002287 1 0 0 0 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 0 1
FNTA, HOOK3, LOC129389983, LOC130000310, LOC130000311, LOC130000312, LOC130000313, LOC130000314, LOC130000315, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 0 0 0 0 1
FOXP3 1 0 0 0 0 0 0 0 0 0 1
FREM1 0 0 1 0 0 0 0 0 0 0 1
FRMD1 0 0 1 0 0 0 0 0 0 0 1
GAA 0 0 1 0 0 0 0 0 0 0 1
GAS7, GLP2R, MYH1, MYH13, MYH2, MYH4, MYH8, RCVRN 1 0 0 0 0 0 0 0 0 0 1
GGPS1 0 1 0 0 0 0 0 0 0 0 1
GIPC1 1 0 0 0 0 0 0 0 0 0 1
GLI3 0 0 0 0 0 0 0 1 0 0 1
HNRNPA1, LOC117038776 0 0 1 0 0 0 0 0 0 0 1
HORMAD2, MTMR3 0 0 1 0 0 0 0 0 0 0 1
HPD, MORN3, ORAI1, RHOF, SETD1B, TMEM120B 1 0 0 0 0 0 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 0 0 0 0 1
INSR 0 0 0 1 0 0 0 0 0 0 1
ISCU, LOC130008688 0 0 0 0 1 0 0 0 0 0 1
ITGA7, TMT1B 0 0 0 0 1 0 0 0 0 0 1
KBTBD13, MTFMT, RASL12, SLC51B, SPG21 0 0 1 0 0 0 0 0 0 0 1
KIF21A, LOC130007673 0 0 1 0 0 0 0 0 0 0 1
L1CAM 0 1 0 0 0 0 0 0 0 0 1
LAMA1 0 0 1 0 0 0 0 0 0 0 1
LAMA2, LOC123864065, LOC126859783, LOC126859784 1 0 0 0 0 0 0 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 0 0 0 0 1
LDLRAP1, MAN1C1, SELENON 1 0 0 0 0 0 0 0 0 0 1
LINC00362, LOC130009362, LOC132090179, SGCG 0 0 1 0 0 0 0 0 0 0 1
LINC00362, LOC132090179, SGCG 1 0 0 0 0 0 0 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 0 0 0 0 1
LOC112577517, LOC129932003, TOR1AIP1 1 0 0 0 0 0 0 0 0 0 1
LOC112577517, TOR1AIP1, TOR1AIP2 1 0 0 0 0 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 0 0 0 0 1
LOC120893173, LOC122149342, LOC122149343, LOC122149344, LOC126805978, LOC129388729, PPP1R12B, SYT2 0 0 1 0 0 0 0 0 0 0 1
LOC121331314, LOC130001337, LOC130001338, LOC130001339, LOC130001340, LOC130001341, LOC130001342, LOC130001343, LOC130001344, PLEC 0 1 0 0 0 0 0 0 0 0 1
LOC125371495, NDUFA13 1 0 0 0 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN 0 1 0 0 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 0 0 0 0 1
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN 1 0 0 0 0 0 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC126862500, MYH1, MYH2, MYHAS 0 0 1 0 0 0 0 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC129994721, LOC129994722, MYOT, PKD2L2, PKD2L2-DT 0 1 0 0 0 0 0 0 0 0 1
LOC129994754, MATR3 0 0 0 1 0 0 0 0 0 0 1
LOC129994755, MATR3, SNHG4 0 0 1 0 0 0 0 0 0 0 1
LOC130000954, LRP12 1 0 0 0 0 0 0 0 0 0 1
LOC130001338, PLEC 0 0 0 1 0 0 0 0 0 0 1
LOC130007527, PYROXD1 0 0 0 0 1 0 0 0 0 0 1
LOC130009110, RILPL1 1 0 0 0 0 0 0 0 0 0 1
LOC130009362, SGCG 1 0 0 0 0 0 0 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 0 0 0 0 1
LOC130065089, TNNI3, TNNT1 1 0 0 0 0 0 0 0 0 0 1
LOC130065264, RBCK1 0 0 1 0 0 0 0 0 0 0 1
LOC130068621, NDUFA1 0 0 1 0 0 0 0 0 0 1 1
LOC130068796, MTM1 1 0 0 0 0 0 0 0 0 0 1
LPA 0 0 0 1 0 0 0 0 0 0 1
LRIF1 1 0 0 0 0 0 0 0 0 0 1
LURAP1, POMGNT1 1 0 0 0 0 0 0 0 0 0 1
MB 1 0 0 0 0 0 0 0 0 0 1
MCM3AP 0 0 1 0 0 0 0 0 0 0 1
MEFV 0 0 0 0 1 0 0 0 0 0 1
MET 0 0 1 0 0 0 0 0 0 0 1
MFF 0 1 0 0 0 0 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 0 0 0 0 1
MIR661, PLEC 0 0 1 0 0 0 0 0 0 0 1
MIR6766, POLG 0 0 0 0 1 0 0 0 0 0 1
MN1 0 0 1 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 1 0 0 0 0 0 0 0 1 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 0 0 0 0 0 0 0 0 0 1 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 0 0 1
MT-CO2 0 1 0 0 0 0 0 0 0 0 1
MT-ND1, MT-TL1 1 0 0 0 0 0 0 0 0 1 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 0 0 0 0 1
MYH1, MYHAS 0 0 1 0 0 0 0 0 0 0 1
MYH2, MYH3, SCO1 0 0 1 0 0 0 0 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 0 0 0 0 1
MYO15A 0 0 0 1 0 0 0 0 0 0 1
NDUFAF7 0 0 0 0 0 0 0 0 0 1 1
NDUFB10 0 1 0 0 0 0 0 0 0 0 1
NDUFB11 1 0 0 0 0 0 0 0 0 0 1
NDUFB3 0 1 0 0 0 0 0 0 0 0 1
NES 0 0 1 0 0 0 0 0 0 0 1
NF1 0 0 0 0 1 0 0 0 0 0 1
NIPBL 0 1 0 0 0 0 0 0 0 0 1
NOTCH2NLC 1 0 0 0 0 0 0 0 0 0 1
OPA1 0 1 0 0 0 0 0 0 0 0 1
PABPN1 1 0 0 0 0 0 0 0 0 0 1
PAX3 0 0 1 0 0 0 0 0 0 0 1
PEPD 0 1 0 0 0 0 0 0 0 0 1
PKP2 0 0 1 0 0 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 0 0 1
POLRMT 0 0 1 0 0 0 0 0 0 0 1
POMT1, UCK1 0 1 0 0 0 0 0 0 0 0 1
PPT1 0 0 0 0 1 0 0 0 0 0 1
RANBP2 0 0 1 0 0 0 0 0 0 0 1
RILPL1 0 0 1 0 0 0 0 0 0 0 1
RILPL1, SNRNP35 0 0 1 0 0 0 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 0 0 1
ROBO4 0 0 0 0 0 0 0 1 0 0 1
SLC25A42 0 1 0 0 0 0 0 0 0 0 1
SNTA1 0 0 1 0 0 0 0 0 0 0 1
SRPK3 1 0 0 0 0 0 0 0 0 0 1
SURF1 1 0 0 0 0 0 0 0 0 0 1
TNNT3 0 0 1 0 0 0 0 0 0 0 1
TP63 0 0 1 0 0 0 0 0 0 0 1
TUBA1B 0 0 1 0 0 0 0 0 0 0 1
TUBB 0 0 1 0 0 0 0 0 0 0 1
UTRN 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 366
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7192 5152 40143 54063 5377 0 1 0 0 0 111922
Illumina Laboratory Services, Illumina 22 32 5590 1446 2981 0 0 0 0 0 8463
Fulgent Genetics, Fulgent Genetics 490 983 4159 669 109 0 0 0 0 0 6403
Natera, Inc. 220 62 2659 874 308 0 0 0 0 0 4123
Baylor Genetics 714 883 617 3 0 0 0 0 0 0 2213
Genome-Nilou Lab 25 23 393 233 1441 0 0 0 0 0 2113
Revvity Omics, Revvity 103 106 1474 31 0 0 0 0 0 0 1714
OMIM 1267 0 20 0 0 1 0 4 0 0 1292
Counsyl 121 645 446 72 2 0 0 0 0 0 1286
Myriad Genetics, Inc. 21 636 12 0 0 0 0 0 0 0 669
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 50 38 145 90 249 0 0 0 0 0 572
Mendelics 365 50 31 31 71 0 0 0 0 0 548
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 299 209 1 0 0 0 0 0 0 0 509
Neuberg Centre For Genomic Medicine, NCGM 75 122 235 1 0 0 0 0 0 0 432
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 108 152 155 4 13 0 0 0 0 0 430
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 111 83 139 7 1 0 0 0 0 0 341
GeneReviews 149 0 1 0 11 0 0 0 0 175 335
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 79 71 166 4 4 0 0 0 0 0 323
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 13 268 19 0 0 0 0 0 0 0 300
MGZ Medical Genetics Center 59 82 107 0 0 0 0 0 0 0 248
Genetic Services Laboratory, University of Chicago 166 42 15 0 0 0 0 0 0 0 223
3billion, Medical Genetics 88 69 46 6 0 0 0 0 0 0 209
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 114 80 13 0 0 0 0 0 0 0 206
Juno Genomics, Hangzhou Juno Genomics, Inc 60 109 36 0 0 0 0 0 0 0 205
Centre for Mendelian Genomics, University Medical Centre Ljubljana 28 39 124 8 5 0 0 0 0 0 202
Genomic Research Center, Shahid Beheshti University of Medical Sciences 29 23 105 8 2 0 0 0 0 0 167
New York Genome Center 6 18 128 0 0 0 0 0 0 0 152
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146 0 0 0 0 0 0 0 0 0 146
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 72 65 9 0 0 0 0 0 0 0 145
Institute of Human Genetics, University of Leipzig Medical Center 39 32 62 2 3 0 0 0 0 0 138
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen 58 18 9 22 18 0 0 0 0 0 125
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 116 116
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 114 114
Athena Diagnostics 88 3 0 0 16 0 0 0 0 0 107
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 33 57 3 0 0 0 0 0 0 0 93
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 71 22 0 0 0 0 0 0 0 0 93
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 30 14 12 8 22 0 0 0 0 0 86
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 4 65 3 0 0 0 0 0 0 78
Molecular Genetics, Royal Melbourne Hospital 15 4 34 11 11 0 0 0 0 0 75
Institute of Human Genetics, University of Wuerzburg 10 31 29 2 0 0 0 0 0 0 72
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 20 25 25 0 0 0 0 0 0 0 70
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 13 31 17 0 0 0 0 0 0 0 61
Neuromuscular Research, Maastricht University Medical Centre 48 0 0 0 14 0 0 0 0 0 61
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 18 9 27 0 0 0 0 0 0 0 54
Centogene AG - the Rare Disease Company 13 11 29 0 0 0 0 0 0 0 53
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 32 14 8 0 0 0 0 0 0 0 53
Undiagnosed Diseases Network, NIH 21 17 11 1 0 0 0 0 0 0 50
Genetics and Molecular Pathology, SA Pathology 13 14 22 1 0 0 0 0 0 0 50
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 10 39 0 0 0 0 0 50
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 12 13 20 0 0 0 0 0 0 0 45
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 14 7 20 0 0 0 0 0 44
SIB Swiss Institute of Bioinformatics 4 21 16 0 2 0 0 0 0 0 43
Solve-RD Consortium 4 40 0 0 0 0 0 0 0 0 43
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 16 9 16 0 0 0 0 0 0 0 41
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 9 9 8 5 8 0 0 0 0 0 39
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 37 0 0 0 0 0 0 0 0 38
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 16 11 10 0 0 0 0 0 0 0 37
Harry Perkins Institute Of Medical Research, University Of Western Australia 13 16 7 0 0 0 0 0 0 0 36
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 21 14 0 0 0 0 0 0 0 0 35
Pars Genome Lab 3 0 16 4 12 0 0 0 0 0 35
Clinical Genomics Laboratory, Washington University in St. Louis 3 10 21 0 0 0 0 0 0 0 34
NeuroMeGen, Hospital Clinico Santiago de Compostela 2 32 0 0 0 0 0 0 0 0 34
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 10 14 9 0 0 0 0 0 0 0 33
Mayo Clinic Laboratories, Mayo Clinic 2 0 30 0 0 0 0 0 0 0 32
Pediatric Department, Peking University First Hospital 12 17 3 0 0 0 0 0 0 0 32
Center for Genetic Medicine Research, Children's National Medical Center 0 31 0 0 0 0 0 0 0 0 31
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 11 3 17 0 0 0 0 0 0 0 31
Phosphorus, Inc. 0 0 18 3 10 0 0 0 0 0 31
MVZ Medizinische Genetik Mainz 2 8 21 0 0 0 0 0 0 0 31
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 6 20 0 0 0 0 0 28
Daryl Scott Lab, Baylor College of Medicine 4 4 13 0 0 0 0 7 0 0 28
Genomics England Pilot Project, Genomics England 9 19 0 0 0 0 0 0 0 0 28
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 24 0 2 0 0 0 0 0 0 0 26
deCODE genetics, Amgen 2 24 0 0 0 0 0 0 0 0 26
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 11 14 0 0 0 0 0 0 0 0 25
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 12 4 0 0 0 0 0 0 0 25
Breda Genetics srl 3 5 16 1 0 0 0 0 0 0 25
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 23 0 0 0 0 0 0 0 25
Institute of Human Genetics, Cologne University 7 9 7 1 0 0 0 0 0 0 24
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 6 12 1 0 0 0 0 0 0 24
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 15 7 0 0 0 0 0 0 0 24
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 16 5 1 0 0 2 0 0 0 0 24
KTest Genetics, KTest 18 6 0 0 0 0 0 0 0 0 24
Suma Genomics 11 7 6 0 0 0 0 0 0 0 24
KardioGenetik, Herz- und Diabeteszentrum NRW 0 15 7 0 0 0 0 0 0 0 22
Institute of Human Genetics, University of Goettingen 0 6 14 1 0 0 0 0 0 0 21
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 4 3 14 0 0 0 0 0 0 0 21
Genomic Medicine Lab, University of California San Francisco 6 7 7 0 0 0 0 0 0 0 20
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 8 9 0 0 0 0 0 0 0 20
CSER _CC_NCGL, University of Washington 0 1 8 10 0 0 0 0 0 0 19
Johns Hopkins Genomics, Johns Hopkins University 4 6 9 0 0 0 0 0 0 0 19
Lifecell International Pvt. Ltd 10 9 0 0 0 0 0 0 0 0 19
Institute of Immunology and Genetics Kaiserslautern 10 4 5 0 0 0 0 0 0 0 19
UCLA Clinical Genomics Center, UCLA 4 13 0 0 0 0 0 0 0 0 17
Clinical Genomics Laboratory, Stanford Medicine 1 5 11 0 0 0 0 0 0 0 17
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 3 10 3 0 0 0 0 0 0 0 16
Center of Excellence for Medical Genomics, Chulalongkorn University 8 3 5 0 0 0 0 0 0 0 16
Breakthrough Genomics, Breakthrough Genomics 10 5 1 0 0 0 0 0 0 0 16
Neurogenetics Laboratory, Royal Perth Hospital 15 0 0 0 0 0 0 0 0 0 15
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 5 3 7 0 0 0 0 0 0 0 15
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 15 15
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 5 6 3 0 0 0 0 0 0 0 14
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 0 0 0 0 0 0 0 14
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 6 5 0 0 0 0 0 0 0 14
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 6 4 0 2 0 0 0 0 0 14
DASA 10 4 0 0 0 0 0 0 0 0 14
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 3 1 8 1 0 0 0 0 0 0 13
Division of Human Genetics, Children's Hospital of Philadelphia 3 4 6 0 0 0 0 0 0 0 13
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 4 2 0 0 0 0 0 0 0 13
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 1 6 1 0 0 0 0 0 0 13
Department of Human Genetics, Hannover Medical School 1 4 8 0 0 0 0 0 0 0 13
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University 9 0 4 0 0 0 0 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 10 0 0 0 0 0 0 0 0 12
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 7 0 0 0 0 0 0 0 0 12
Human Genetics Bochum, Ruhr University Bochum 0 5 7 0 0 0 0 0 0 0 12
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 4 7 1 0 0 0 0 0 0 0 12
Hadassah Hebrew University Medical Center 1 10 0 0 0 0 0 0 0 0 11
Department of Medical Genetics, National Institute of Health 6 5 0 0 0 0 0 0 0 0 11
GeniaGeo, Laboratorio Genia 8 3 0 0 0 0 0 0 0 0 11
Genetic Diseases Diagnostic Center, Koc University Hospital 0 11 0 0 0 0 0 0 0 0 11
Wellcome Centre for Mitochondrial Research, Newcastle University 9 0 1 0 0 0 0 0 0 0 10
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 4 4 2 0 0 0 0 0 0 0 10
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 0 0 0 0 10
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 6 4 0 0 0 0 0 0 0 0 10
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 5 5 0 0 0 0 0 0 0 0 10
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 4 4 0 0 0 0 0 0 0 9
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 8 0 1 0 0 0 0 0 0 0 9
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 5 1 1 2 0 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 7 0 0 0 0 0 0 0 8
Institute of Human Genetics, Heidelberg University 2 6 0 0 0 0 0 0 0 0 8
Arcensus 1 3 4 0 0 0 0 0 0 0 8
School of Medicine, Universitat de Girona 0 0 8 0 0 0 0 0 0 0 8
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 3 4 0 0 0 0 0 0 0 7
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 2 4 1 0 0 0 0 0 0 0 7
James R Lupski Laboratory, Baylor College Of Medicine 5 1 0 0 1 0 0 0 0 0 7
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 6 0 0 0 0 0 0 0 7
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 1 4 0 0 0 0 0 0 0 7
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 7 0 0 0 0 0 0 0 0 7
Department of Pathophysiology and Transplantation, University of Milan 5 1 1 0 0 0 0 0 0 0 7
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 3 4 0 0 0 0 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 5 1 0 0 0 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 0 0 0 0 6
Medical Molecular Genetics Department, National Research Center 1 5 0 0 0 0 0 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 4 0 0 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 5 0 0 0 0 0 0 0 6
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 2 1 0 1 0 0 0 0 0 6
Palindrome, Gene Kavoshgaran Aria 6 0 0 0 0 0 0 0 0 0 6
Dr.Nikuei Genetic Center 3 1 0 1 1 0 0 0 0 0 6
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 4 1 0 0 0 0 0 0 5
Duke University Health System Sequencing Clinic, Duke University Health System 3 0 1 1 0 0 0 0 0 0 5
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 3 2 0 0 0 0 0 0 0 0 5
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 3 1 1 0 0 0 0 0 0 0 5
Clinical Genetics Laboratory, Region Ostergotland 1 4 0 0 0 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 3 0 0 0 0 0 5
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 5 0 0 0 0 0 0 0 0 0 5
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 5 0 0 0 0 0 0 0 0 0 5
Garshasbi Lab, Tarbiat Modares University 0 5 0 0 0 0 0 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 2 0 0 0 0 0 0 0 5
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 2 1 0 2 0 0 0 0 0 5
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute 4 1 0 0 0 0 0 0 0 0 5
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 5 0 0 0 0 0 0 0 0 5
Next Generation Genetic Polyclinic 0 2 3 0 0 0 0 0 0 0 5
Inheritance Genetic Center 2 3 0 0 0 0 0 0 0 0 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 1 1 1 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 2 0 0 0 0 0 0 0 0 4
Hehr Laboratory, Center for Human Genetics Regensburg 1 3 0 0 0 0 0 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 1 1 0 0 0 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 2 0 0 0 0 0 0 0 0 4
Sema4, Sema4 2 1 1 0 0 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 0 0 0 0 4
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 4 0 0 0 0 0 0 0 4
Tehran Medical Genetics Laboratory 0 4 0 0 0 0 0 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 4 0 0 0 0 0 0 0 0 0 4
Kids Research, The Children's Hospital at Westmead 2 1 1 0 0 0 0 0 0 0 4
Biochemistry Laboratory of CDMU, Chengde Medical University 2 2 0 0 0 0 0 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 2 1 1 0 0 0 0 0 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 4 0 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 4 0 0 0 0 0 0 0 0 0 4
Kids Neuroscience Centre, Sydney Children's Hospitals Network 2 1 1 0 0 0 0 0 0 0 4
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 2 0 0 0 0 0 0 0 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 2 0 0 0 0 0 0 0 0 4
Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University 3 1 0 0 0 0 0 0 0 0 4
Engle Laboratory, Boston Children's Hospital 1 2 0 0 0 0 0 0 0 0 3
GeneDx 0 0 1 0 2 0 0 0 0 0 3
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 0 0 1 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 2 0 0 0 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 1 2 0 0 0 0 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 3 0 0 0 0 0 0 0 0 3
Dobyns Lab, Seattle Children's Research Institute 3 0 0 0 0 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 3 0 0 0 0 0 0 0 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 3 0 0 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 2 0 0 0 0 0 0 0 3
GenePathDx, GenePath diagnostics 2 0 1 0 0 0 0 0 0 0 3
Ege University Pediatric Genetics, Ege University 1 0 2 0 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 1 1 0 0 0 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 0 3 0 0 0 0 0 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 2 0 0 0 0 0 0 0 0 3
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 1 0 0 0 0 0 0 0 3
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre 0 2 1 0 0 0 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 0 0 0 0 0 0 0 0 3
Human Genetics Section, Sidra Medicine 0 3 0 0 0 0 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 3 0 0 0 0 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 1 0 0 0 0 0 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 1 2 0 0 0 0 0 0 0 0 3
Genomics, Clalit Research Institute, Clalit Health Care 1 2 0 0 0 0 0 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 3 0 0 0 0 0 0 0 0 0 3
Institute for Molecular Bioscience, The University of Queensland 1 2 0 0 0 0 0 0 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 1 0 2 0 0 0 0 0 0 0 3
Igenomix - Part of Vitrolife Group, Igenomix 0 1 2 0 0 0 0 0 0 0 3
CGC Genetics, Unilabs 0 1 1 0 0 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 1 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 0 0 0 0 2
Leiden Muscular Dystrophy (CAV3) 0 0 0 0 0 0 0 0 0 2 2
UniProtKB/Swiss-Prot 0 1 0 0 0 0 0 0 0 1 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 0 0 0 0 2
Medical Genetics Section, University of Rome Tor Vergata 2 0 0 0 0 0 0 0 0 0 2
Biochimie Génétique et moléculaire, CHUGA 1 1 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 0 0 0 0 2
Neurology Department, Peking University First Hospital 1 1 0 0 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 0 0 0 2
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 2 0 0 0 0 0 0 0 0 0 2
Emory University School of Medicine, Department of Human Genetics, Emory University 1 1 0 0 0 0 0 0 0 0 2
Computational Biology Unit, University of Bari 0 2 0 0 0 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 2 0 0 0 0 0 0 0 2
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 1 1 0 0 0 0 0 0 0 2
Department of Medical Genetics, University of Pecs 0 2 0 0 0 0 0 0 0 0 2
Coyote Medical Laboratory (Beijing), Coyote 2 0 0 0 0 0 0 0 0 0 2
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 2 0 0 0 0 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 2 0 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 1 1 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, Tor Vergata University 1 1 0 0 0 0 0 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 0 0 0 0 2
Department of Obstetrics, Zhejiang Provincial People's Hospital, Zhejiang Provincial People's Hospital 0 2 0 0 0 0 0 0 0 0 2
Precision Medical Center, Wuhan Children's Hospital 1 1 0 0 0 0 0 0 0 0 2
Medical Genetic Department, The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 0 0 0 2
Department of Toxicogenomics, Maastricht University 0 2 0 0 0 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 0 0 0 2
Vockley Lab, University of Pittsburgh 2 0 0 0 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 0 0 0 0 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 2 0 0 0 0 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 0 0 0 0 0 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 2 0 0 0 0 0 0 0 0 2
Neurogenetics, Research Centre for Medical Genetics 2 0 0 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 2 0 0 0 0 0 0 0 0 2
Laboratorio Biología Molecular, Sanatorio Americano 0 2 0 0 0 0 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 1 0 0 0 0 0 0 0 2
Lildballe Lab, Aarhus University Hospital 0 2 0 0 0 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 2 0 0 0 0 0 0 0 0 0 2
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 0 0 1
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 1 0 0 0 0 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 0 0 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 0 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 0 0 1
Evolutionary and Medical Genetics Laboratory, Center for Cellular and Molecular Biology 0 1 0 0 0 0 0 0 0 0 1
Simons Lab, The University of Queensland 0 1 0 0 0 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 0 1 0 0 0 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 0 0 0 0 1
Marco Cassone, Clinical geneticist 1 0 0 0 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center., Columbia University Medical Center 1 0 0 0 0 0 0 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 0 0 1 0 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 0 0 0 0 1
Genetic Research, Kawsar Human Genetics Research Center 1 0 0 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 1 0 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 0 0 1
Research Center for Molecular Medicine, Hamadan University of medical science 1 0 0 0 0 0 0 0 0 0 1
Hakim Medical Genetics Center Laboratory, Neyshabur University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 1 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 0 0 0 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 0 0 0 0 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 1 0 0 0 0 0 0 0 0 0 1
Neurology Institute, Anhui University of Chinese Medicine 1 0 0 0 0 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 0 0 0 0 0 1
Cardiogenetic Laboratory, Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 0 0 1 1
Kowloon West Cluster Laboratory Genetic Service, Princess Margaret Hospital 1 0 0 0 0 0 0 0 0 0 1
Genetics, INEBIR 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital 0 0 1 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 0 0 0 1
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER 0 1 0 0 0 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 0 0 0 0 1
Centro de Registro e Investigacion sobre Anomalias Congenitas, Hospital Civil de Guadalajara Dr. Juan I. Menchaca 1 0 0 0 0 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 0 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 1 0 0 0 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 0 0 0 1
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences 1 0 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 0 0 0 1
Pediatrics Department, Azienda Ospedaliero-Universitaria Policlinico San Marco 0 1 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 0 0 0 0 1
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 1 0 0 0 0 0 0 0 0 0 1
Matsson lab, Uppsala university 0 1 0 0 0 0 0 0 0 0 1
Department of Neuromuscular Diseases, Third Hospital of Hebei Medical University 1 0 0 0 0 0 0 0 0 0 1
Genexplore Diagnostics and Research Centre Pvt. Ltd., NA 1 0 0 0 0 0 0 0 0 0 1
Department of Cardiology, The Fifth Hospital of Shanxi Medical University 0 0 1 0 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 0 0 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 0 0 0 0 1
Genetics Research Group, Universidad San Francisco de Quito 1 0 0 0 0 0 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, First Hospital Of Nanchang 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 0 0 0 0 1
Children's Medical Center, Molecular Pathology and Cytogenetics Lab, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 0 0 0 0 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 0 1 0 0 0 0 0 0 0 0 1
Laboratorio de Investigaciones Aplicadas a Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia 1 0 0 0 0 0 0 0 0 0 1
Genetic Laboratory, Progenet 0 1 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 0 0 0 0 1
Unidad de Genética, Hospital Universitario de Canarias 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 1 0 0 0 0 0 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 0 0 0 1

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