From: Assessing structural variation in a personal genome—towards a human reference diploid genome
Gene | Chr | Start | End | Type | Source | Flag |
---|---|---|---|---|---|---|
ASTN1 | 1 | 177,131,105 | 177,139,508 | INS | ARR,ILL,PAC | 7 |
C16orf96 | 16 | 4,619,222 | 4,629,905 | INS | ARR,ILL,PAC | 7 |
DOCK3 | 3 | 50,879,021 | 50,879,201 | INS | ILL,PAC | 7 |
PCNXL4 | 14 | 60,575,443 | 60,575,546 | INS | ILL,PAC | 7 |
PKD1L3 | 16 | 72,030,321 | 72,032,511 | INS | ILL,PAC | 7 |
TBC1D3G | 17 | 34,805,579 | 34,815,084 | DEL | ILL,PAC | 7 |
MAGEA11 | X | 148,735,694 | 148,830,894 | MIS | ILL,NEX | 6 |
METTL21C | 13 | 103,345,467 | 103,348,148 | INS | ILL,NEX | 6 |
RAP1GDS1 | 4 | 99,179,171 | 99,184,420 | DEL | ARR | 5 |
ZNF826P | 19 | 20,504,301 | 20,595,300 | DEL | ILL | 5 |
ASTN1 | 1 | 177,131,101 | 177,139,495 | MIS | ILL | 5 |
C20orf96 | 20 | 258,785 | 260,245 | DEL | ARR | 5 |
CSMD3 | 8 | 113,234,275 | 113,239,237 | DEL | NEX | 5 |
GMCL1 | 2 | 70,066,401 | 70,071,781 | MIS | NEX | 5 |
HLA-DRB1 | 6 | 32,547,848 | 32,548,158 | DEL | ILL | 5 |
MLF1IP | 4 | 185,651,743 | 185,652,393 | INS | ILL | 5 |
MTO1 | 6 | 74,203,747 | 74,216,637 | MIS | ILL | 5 |
MUC2 | 11 | 1,092,829 | 1,093,579 | INS | ILL | 5 |
OR4C6 | 11 | 55,431,550 | 55,457,289 | INS | ILL | 5 |
PDE4DIP | 1 | 144,954,098 | 144,960,871 | MIS | ILL | 5 |
RAB11FIP3 | 16 | 544,841 | 547,158 | INS | NEX | 5 |
AP2A2 | 11 | 915,248 | 928,463 | INS | ARR | 4 |
TPSB2 | 16 | 1,274,089 | 1,288,819 | INS | ARR | 4 |
TPSG1 | 16 | 1,274,089 | 1,288,819 | INS | ARR | 4 |
ALDH16A1 | 19 | 49,966,580 | 49,968,737 | INS | NEX | 4 |
ASMTL | X | 1,550,501 | 1,572,400 | INS | ILL | 4 |
C14orf39 | 14 | 60,913,981 | 60,941,067 | MIS | ILL | 4 |
CCL24 | 7 | 75,438,336 | 75,451,936 | INS | ILL | 4 |
CD99 | X | 2,651,401 | 2,699,500 | INS | ILL | 4 |
CNTNAP3B | 9 | 43,844,101 | 43,866,100 | INS | ILL | 4 |
CTNNA2 | 2 | 80,769,022 | 80,780,356 | MIS | ILL | 4 |
DEFA1 | 8 | 6,833,701 | 6,844,000 | DEL | ILL | 4 |
DSPP | 4 | 88,536,463 | 88,536,667 | INS | ILL | 4 |
ENPP7 | 17 | 77,699,565 | 77,726,581 | MIS | ILL | 4 |
EXOC6B | 2 | 72,688,192 | 72,697,903 | MIS | ILL | 4 |
FAM186A | 12 | 50,745,742 | 50,745,861 | INS | PAC | 4 |
FOXO6 | 1 | 41,847,826 | 41,847,932 | INS | PAC | 4 |
FRK | 6 | 116,274,618 | 116,307,096 | MIS | ILL | 4 |
HERC2 | 15 | 28,547,301 | 28,566,700 | INS | ILL | 4 |
HSD17B3 | 9 | 99,057,917 | 99,063,709 | MIS | ILL | 4 |
IFNAR1 | 21 | 34,694,683 | 34,701,442 | MIS | NEX | 4 |
IGHV4-61 | 14 | 107,087,259 | 107,099,190 | INS | ILL | 4 |
IL28A | 19 | 39,730,613 | 39,762,849 | MIS | NEX | 4 |
IL28B | 19 | 39,730,613 | 39,762,849 | MIS | NEX | 4 |
IL3RA | X | 1,494,601 | 1,510,800 | INS | ILL | 4 |
KIAA1671 | 22 | 25,441,077 | 25,467,572 | INS | ILL | 4 |
KRT37 | 17 | 39,579,211 | 39,595,476 | MIS | ILL | 4 |
KRT38 | 17 | 39,579,211 | 39,595,476 | MIS | ILL | 4 |
KRTAP4-7 | 17 | 39,240,740 | 39,240,840 | INS | PAC | 4 |
KRTAP5-4 | 11 | 1,642,915 | 1,643,128 | INS | PAC | 4 |
MATR3 | 5 | 138,652,720 | 138,666,146 | INS | ARR | 4 |
NBPF15 | 1 | 148,571,852 | 148,591,725 | INS | ARR | 4 |
OR2A7 | 7 | 143,945,501 | 143,956,800 | INS | ILL | 4 |
OR2G6 | 1 | 248,682,789 | 248,702,341 | MIS | NEX | 4 |
OR4C3 | 11 | 48,340,701 | 48,347,600 | INS | ILL | 4 |
OR4C6 | 11 | 55,431,551 | 55,445,867 | INS | PAC | 4 |
OR8U1 | 11 | 56,143,129 | 56,143,999 | INS | PAC | 4 |
PLXNB2 | 22 | 50,723,862 | 50,724,455 | DEL | ILL | 4 |
PPP2R3B | X | 290,201 | 300,100 | INS | ILL | 4 |
PPP2R3B | X | 327,401 | 344,700 | INS | ILL | 4 |
PRIM2 | 6 | 57,494,250 | 57,507,908 | INS | ILL | 4 |
RFC1 | 4 | 39,350,151 | 39,353,407 | INS | NEX | 4 |
RGPD3 | 2 | 107,082,401 | 107,085,300 | DEL | ILL | 4 |
RRBP1 | 20 | 17,639,769 | 17,639,981 | INS | PAC | 4 |
SAMD1 | 19 | 14,200,852 | 14,200,953 | INS | PAC | 4 |
SHOX | X | 598,001 | 628,300 | INS | ILL | 4 |
SLC25A6 | X | 1,494,601 | 1,510,800 | INS | ILL | 4 |
SMC1B | 22 | 45,745,435 | 45,746,440 | INS | ILL | 4 |
TMEFF2 | 2 | 192,818,912 | 192,840,053 | MIS | ILL | 4 |
UTS2D | 3 | 190,999,450 | 191,019,577 | INS | ILL | 4 |
XG | X | 2,651,401 | 2,699,500 | INS | ILL | 4 |
ZNF208 | 19 | 22,156,807 | 22,156,912 | DEL | PAC | 4 |
ZNF253 | 19 | 19,990,342 | 20,005,317 | MIS | ILL | 4 |
ZNF346 | 5 | 176,462,777 | 176,474,191 | INS | ILL | 4 |
ZNF519 | 18 | 14,105,158 | 14,105,265 | DEL | PAC | 4 |