Variant |
Chrom |
Position |
Genes |
Protein Consequence |
Transcript Consequence |
Filter |
Annotation |
Exon Number |
Allele Count |
Allele Number |
Number of Homozygotes |
Number of Heterozygotes |
Allele Frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12:21590600 C / T (rs113744302) | 12 | 21590600 | PYROXD1 | c.-65C>T | PASS | 5' UTR | 1 | 74 | 2404 | 2 | 70 | 0.03078 | |
| 12:21590609 T / G (rs73244989) | 12 | 21590609 | PYROXD1 | c.-56T>G | PASS | 5' UTR | 1 | 5 | 2404 | 0 | 5 | 0.002080 | |
| 12:21590621 T / C (rs2058464) | 12 | 21590621 | PYROXD1 | c.-44T>C | PASS | 5' UTR | 1 | 1188 | 2404 | 305 | 578 | 0.4942 | |
| 12:21590651 G / A (rs200911035) | 12 | 21590651 | PYROXD1 | c.-14G>A | PASS | 5' UTR | 1 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21590686 C / A (rs370239493) | 12 | 21590686 | PYROXD1 | p.Pro8Thr | c.22C>A | PASS | missense | 1 | 8 | 2404 | 0 | 8 | 0.003328 |
| 12:21590716 G / C | 12 | 21590716 | PYROXD1 | p.Gly18Arg | c.52G>C | PASS | missense | 1 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21590727 G / T (rs757345717) | 12 | 21590727 | PYROXD1 | p.Ala21= | c.63G>T | PASS | synonymous | 1 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21590732 T / A (rs1335901770) | 12 | 21590732 | PYROXD1 | p.Val23Asp | c.68T>A | PASS | missense | 1 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21590788 C / A (rs2110165) | 12 | 21590788 | PYROXD1 | c.84+40C>A | PASS | intron | 1 | 1210 | 2404 | 305 | 600 | 0.5033 | |
| 12:21590792 A / C (rs754369287) | 12 | 21590792 | PYROXD1 | c.84+44A>C | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21590793 A / C (rs114087582) | 12 | 21590793 | PYROXD1 | c.84+45A>C | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21590825 C / G (rs755390322) | 12 | 21590825 | PYROXD1 | c.84+77C>G | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21590827 T / _ (rs1950813965) | 12 | 21590827 | PYROXD1 | c.84+79delT | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21590886 C / G (rs533205246) | 12 | 21590886 | PYROXD1 | c.84+138C>G | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21590895 G / C (rs1277184711) | 12 | 21590895 | PYROXD1 | c.84+147G>C | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21590936 C / G (rs992440820) | 12 | 21590936 | PYROXD1 | c.84+188C>G | PASS | intron | 1 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21591009 T / A | 12 | 21591009 | PYROXD1 | c.84+261T>A | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21591029 G / C (rs113058309) | 12 | 21591029 | PYROXD1 | c.84+281G>C | PASS | intron | 1 | 27 | 2404 | 3 | 21 | 0.01123 | |
| 12:21591061 C / A | 12 | 21591061 | PYROXD1 | c.84+313C>A | PASS | intron | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21591062 C / G (rs536190214) | 12 | 21591062 | PYROXD1 | c.84+314C>G | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21591063 C / T (rs73071759) | 12 | 21591063 | PYROXD1 | c.84+315C>T | PASS | intron | 1 | 9 | 2404 | 2 | 5 | 0.003744 | |
| 12:21591064 TTTCTTTTTATTTTTT / _ (rs1404097455) | 12 | 21591064 | PYROXD1 | c.84+325_84+340del | PASS | intron | 1 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21591073 A / C (rs2058465) | 12 | 21591073 | PYROXD1 | c.84+325A>C | PASS | intron | 1 | 670 | 2404 | 333 | 4 | 0.2787 | |
| 12:21591234 C / A | 12 | 21591234 | PYROXD1 | c.84+486C>A | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21591241 G / T | 12 | 21591241 | PYROXD1 | c.84+493G>T | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21591247 A / G (rs11046046) | 12 | 21591247 | PYROXD1 | c.84+499A>G | PASS | intron | 1 | 43 | 2404 | 18 | 7 | 0.01789 | |
| 12:21591261 C / T (rs970036867) | 12 | 21591261 | PYROXD1 | c.84+513C>T | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21591265 C / A | 12 | 21591265 | PYROXD1 | c.84+517C>A | PASS | intron | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21591271 C / T (rs1449745199) | 12 | 21591271 | PYROXD1 | c.84+523C>T | PASS | intron | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21591300 T / _ (rs376754299) | 12 | 21591300 | PYROXD1 | c.84+552delT | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21591375 C / A | 12 | 21591375 | PYROXD1 | c.84+627C>A | PASS | intron | 1 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21591785 G / C (rs2417979) | 12 | 21591785 | PYROXD1 | c.84+1037G>C | PASS | intron | 1 | 100 | 2404 | 49 | 2 | 0.04160 | |
| 12:21591797 C / T | 12 | 21591797 | PYROXD1 | c.84+1049C>T | PASS | intron | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21591815 TA / _ (rs3061430) | 12 | 21591815 | PYROXD1 | c.84+1071_84+1072delTA | PASS | intron | 1 | 106 | 2404 | 51 | 4 | 0.04409 | |
| 12:21591828 G / A (rs2417980) | 12 | 21591828 | PYROXD1 | c.84+1080G>A | PASS | intron | 1 | 112 | 2404 | 54 | 4 | 0.04659 | |
| 12:21591847 G / A (rs2417981) | 12 | 21591847 | PYROXD1 | c.84+1099G>A | PASS | intron | 1 | 122 | 2404 | 58 | 6 | 0.05075 | |
| 12:21591921 T / G (rs2417982) | 12 | 21591921 | PYROXD1 | c.84+1173T>G | PASS | intron | 1 | 71 | 2404 | 35 | 1 | 0.02953 | |
| 12:21592094 G / T (rs2417983) | 12 | 21592094 | PYROXD1 | c.85-1208G>T | PASS | intron | 2 | 92 | 2404 | 45 | 2 | 0.03827 | |
| 12:21592103 C / T (rs1361756963) | 12 | 21592103 | PYROXD1 | c.85-1199C>T | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21592200 A / C (rs11046048) | 12 | 21592200 | PYROXD1 | c.85-1102A>C | PASS | intron | 2 | 21 | 2404 | 10 | 1 | 0.008735 | |
| 12:21592357 G / A (rs738027) | 12 | 21592357 | PYROXD1 | c.85-945G>A | PASS | intron | 2 | 91 | 2404 | 44 | 3 | 0.03785 | |
| 12:21592362 A / T | 12 | 21592362 | PYROXD1 | c.85-940A>T | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21592406 A / T (rs738028) | 12 | 21592406 | PYROXD1 | c.85-896A>T | PASS | intron | 2 | 145 | 2404 | 67 | 11 | 0.06032 | |
| 12:21592546 A / T (rs738029) | 12 | 21592546 | PYROXD1 | c.85-756A>T | PASS | intron | 2 | 127 | 2404 | 60 | 7 | 0.05283 | |
| 12:21592680 T / A (rs118054067) | 12 | 21592680 | PYROXD1 | c.85-622T>A | PASS | intron | 2 | 11 | 2404 | 5 | 1 | 0.004576 | |
| 12:21592893 A / G (rs7309377) | 12 | 21592893 | PYROXD1 | c.85-409A>G | PASS | intron | 2 | 9 | 2404 | 4 | 1 | 0.003744 | |
| 12:21593007 G / C (rs17620142) | 12 | 21593007 | PYROXD1 | c.85-295G>C | PASS | intron | 2 | 32 | 2404 | 9 | 14 | 0.01331 | |
| 12:21593037 T / C (rs7298300) | 12 | 21593037 | PYROXD1 | c.85-265T>C | PASS | intron | 2 | 459 | 2404 | 164 | 131 | 0.1909 | |
| 12:21593271 C / G (rs112178952) | 12 | 21593271 | PYROXD1 | c.85-31C>G | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21593404 G / C (rs4762702) | 12 | 21593404 | PYROXD1 | c.165+22G>C | PASS | intron | 2 | 2331 | 2404 | 1164 | 3 | 0.9696 | |
| 12:21593434 C / T (rs1380592026) | 12 | 21593434 | PYROXD1 | c.165+52C>T | PASS | intron | 2 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21593462 _ / T (rs57817097) | 12 | 21593462 | PYROXD1 | c.165+86dupT | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21593525 A / G (rs73246509) | 12 | 21593525 | PYROXD1 | c.165+143A>G | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21593601 A / _ (rs35105508) | 12 | 21593601 | PYROXD1 | c.165+219delA | PASS | intron | 2 | 110 | 2404 | 47 | 16 | 0.04576 | |
| 12:21593714 C / A | 12 | 21593714 | PYROXD1 | c.165+332C>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21593716 A / G (rs28690452) | 12 | 21593716 | PYROXD1 | c.165+334A>G | PASS | intron | 2 | 49 | 2404 | 24 | 1 | 0.02038 | |
| 12:21593766 T / A (rs10770809) | 12 | 21593766 | PYROXD1 | c.165+384T>A | PASS | intron | 2 | 122 | 2404 | 61 | 0 | 0.05075 | |
| 12:21593809 G / A (rs11046050) | 12 | 21593809 | PYROXD1 | c.165+427G>A | PASS | intron | 2 | 49 | 2404 | 23 | 3 | 0.02038 | |
| 12:21594028 C / T (rs7131777) | 12 | 21594028 | PYROXD1 | c.165+646C>T | PASS | intron | 2 | 205 | 2404 | 96 | 13 | 0.08527 | |
| 12:21594105 C / T (rs10841812) | 12 | 21594105 | PYROXD1 | c.165+723C>T | PASS | intron | 2 | 35 | 2404 | 13 | 9 | 0.01456 | |
| 12:21594106 G / A (rs543552491) | 12 | 21594106 | PYROXD1 | c.165+724G>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21594107 C / T (rs7131809) | 12 | 21594107 | PYROXD1 | c.165+725C>T | PASS | intron | 2 | 124 | 2404 | 54 | 16 | 0.05158 | |
| 12:21594108 A / C | 12 | 21594108 | PYROXD1 | c.165+726A>C | PASS | intron | 2 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21594113 T / A | 12 | 21594113 | PYROXD1 | c.165+731T>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21594114 G / A | 12 | 21594114 | PYROXD1 | c.165+732G>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21594117 C / T | 12 | 21594117 | PYROXD1 | c.165+735C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21594118 A / G | 12 | 21594118 | PYROXD1 | c.165+736A>G | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21594179 G / A | 12 | 21594179 | PYROXD1 | c.165+797G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21594185 C / T | 12 | 21594185 | PYROXD1 | c.165+803C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21594324 A / G (rs11046051) | 12 | 21594324 | PYROXD1 | c.165+942A>G | PASS | intron | 2 | 89 | 2404 | 34 | 21 | 0.03702 | |
| 12:21594329 G / T (rs6487224) | 12 | 21594329 | PYROXD1 | c.165+947G>T | PASS | intron | 2 | 347 | 2404 | 154 | 39 | 0.1443 | |
| 12:21594331 C / A | 12 | 21594331 | PYROXD1 | c.165+949C>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21594378 CTT / _ (rs71444123) | 12 | 21594378 | PYROXD1 | c.165+998_165+1000delTCT | PASS | intron | 2 | 182 | 2404 | 87 | 8 | 0.07571 | |
| 12:21594384 T / C (rs61169452) | 12 | 21594384 | PYROXD1 | c.165+1002T>C | PASS | intron | 2 | 225 | 2404 | 108 | 9 | 0.09359 | |
| 12:21594488 T / C (rs73071777) | 12 | 21594488 | PYROXD1 | c.165+1106T>C | PASS | intron | 2 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21594679 _ / TGTC (rs34521099) | 12 | 21594679 | PYROXD1 | c.165+1296_165+1297insTGTC | PASS | intron | 2 | 67 | 2404 | 33 | 1 | 0.02787 | |
| 12:21594681 G / A (rs1054803497) | 12 | 21594681 | PYROXD1 | c.165+1299G>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21594835 G / T (rs10770810) | 12 | 21594835 | PYROXD1 | c.165+1453G>T | PASS | intron | 2 | 104 | 2404 | 49 | 6 | 0.04326 | |
| 12:21594854 A / T (rs12423381) | 12 | 21594854 | PYROXD1 | c.165+1472A>T | PASS | intron | 2 | 123 | 2404 | 59 | 5 | 0.05116 | |
| 12:21594983 G / A (rs7133131) | 12 | 21594983 | PYROXD1 | c.165+1601G>A | PASS | intron | 2 | 88 | 2404 | 40 | 8 | 0.03661 | |
| 12:21595064 G / A (rs7136175) | 12 | 21595064 | PYROXD1 | c.165+1682G>A | PASS | intron | 2 | 128 | 2404 | 57 | 14 | 0.05324 | |
| 12:21595067 A / T (rs73071781) | 12 | 21595067 | PYROXD1 | c.165+1685A>T | PASS | intron | 2 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21595390 A / G (rs7136257) | 12 | 21595390 | PYROXD1 | c.165+2008A>G | PASS | intron | 2 | 255 | 2404 | 119 | 17 | 0.1061 | |
| 12:21595396 C / T (rs181874742) | 12 | 21595396 | PYROXD1 | c.165+2014C>T | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21595414 A / C (rs7136265) | 12 | 21595414 | PYROXD1 | c.165+2032A>C | PASS | intron | 2 | 249 | 2404 | 117 | 15 | 0.1036 | |
| 12:21595492 T / C (rs11608659) | 12 | 21595492 | PYROXD1 | c.165+2110T>C | PASS | intron | 2 | 195 | 2404 | 92 | 11 | 0.08111 | |
| 12:21595553 GGAA / _ (rs140434926) | 12 | 21595553 | PYROXD1 | c.165+2171_165+2174delGGAA | PASS | intron | 2 | 28 | 2404 | 12 | 4 | 0.01165 | |
| 12:21595633 T / C (rs11608682) | 12 | 21595633 | PYROXD1 | c.165+2251T>C | PASS | intron | 2 | 196 | 2404 | 90 | 16 | 0.08153 | |
| 12:21595701 G / T | 12 | 21595701 | PYROXD1 | c.165+2319G>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21595710 G / A | 12 | 21595710 | PYROXD1 | c.165+2328G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21595724 G / A (rs7137034) | 12 | 21595724 | PYROXD1 | c.165+2342G>A | PASS | intron | 2 | 195 | 2404 | 91 | 13 | 0.08111 | |
| 12:21595970 A / G (rs73246585) | 12 | 21595970 | PYROXD1 | c.166-2311A>G | PASS | intron | 3 | 16 | 2404 | 8 | 0 | 0.006656 | |
| 12:21596018 T / G (rs7308263) | 12 | 21596018 | PYROXD1 | c.166-2263T>G | PASS | intron | 3 | 42 | 2404 | 21 | 0 | 0.01747 | |
| 12:21596026 G / T | 12 | 21596026 | PYROXD1 | c.166-2255G>T | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21596076 A / T (rs17682057) | 12 | 21596076 | PYROXD1 | c.166-2205A>T | PASS | intron | 3 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21596115 G / A (rs7295417) | 12 | 21596115 | PYROXD1 | c.166-2166G>A | PASS | intron | 3 | 42 | 2404 | 21 | 0 | 0.01747 | |
| 12:21596441 A / T (rs7295570) | 12 | 21596441 | PYROXD1 | c.166-1840A>T | PASS | intron | 3 | 47 | 2404 | 22 | 3 | 0.01955 | |
| 12:21596791 G / T (rs7296273) | 12 | 21596791 | PYROXD1 | c.166-1490G>T | PASS | intron | 3 | 51 | 2404 | 25 | 1 | 0.02121 | |
| 12:21597246 A / G (rs714356) | 12 | 21597246 | PYROXD1 | c.166-1035A>G | PASS | intron | 3 | 58 | 2404 | 28 | 2 | 0.02413 | |
| 12:21597514 G / A (rs714357) | 12 | 21597514 | PYROXD1 | c.166-767G>A | PASS | intron | 3 | 75 | 2404 | 37 | 1 | 0.03120 | |
| 12:21597600 G / T | 12 | 21597600 | PYROXD1 | c.166-681G>T | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21597604 T / C (rs1024733) | 12 | 21597604 | PYROXD1 | c.166-677T>C | PASS | intron | 3 | 112 | 2404 | 55 | 2 | 0.04659 | |
| 12:21597614 AGG / _ (rs3061475) | 12 | 21597614 | PYROXD1 | c.166-667_166-665delAGG | PASS | intron | 3 | 112 | 2404 | 55 | 2 | 0.04659 | |
| 12:21597690 C / G (rs1024734) | 12 | 21597690 | PYROXD1 | c.166-591C>G | PASS | intron | 3 | 88 | 2404 | 41 | 6 | 0.03661 | |
| 12:21597866 G / A (rs10841813) | 12 | 21597866 | PYROXD1 | c.166-415G>A | PASS | intron | 3 | 22 | 2404 | 11 | 0 | 0.009151 | |
| 12:21598195 G / A (rs1963330) | 12 | 21598195 | PYROXD1 | c.166-86G>A | PASS | intron | 3 | 188 | 2404 | 75 | 38 | 0.07820 | |
| 12:21598264 C / T (rs1963817) | 12 | 21598264 | PYROXD1 | c.166-17C>T | PASS | intron | 3 | 702 | 2404 | 171 | 360 | 0.2920 | |
| 12:21598271 A / G (rs543273840) | 12 | 21598271 | PYROXD1 | c.166-10A>G | PASS | intron | 3 | 4 | 2404 | 0 | 4 | 0.001664 | |
| 12:21598362 A / G (rs752696374) | 12 | 21598362 | PYROXD1 | p.Ile83Val | c.247A>G | PASS | missense | 3 | 3 | 2404 | 0 | 3 | 0.001248 |
| 12:21598400 C / T (rs757097924) | 12 | 21598400 | PYROXD1 | p.His95= | c.285C>T | PASS | synonymous | 3 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21598464 T / C (rs554450316) | 12 | 21598464 | PYROXD1 | c.285+64T>C | PASS | intron | 3 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21598470 C / G | 12 | 21598470 | PYROXD1 | c.285+70C>G | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21598474 C / G (rs12296109) | 12 | 21598474 | PYROXD1 | c.285+74C>G | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21598526 A / G (rs12309454) | 12 | 21598526 | PYROXD1 | c.285+126A>G | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21598563 G / _ (rs557660881) | 12 | 21598563 | PYROXD1 | c.285+163delG | PASS | intron | 3 | 6 | 2404 | 0 | 6 | 0.002496 | |
| 12:21598701 T / C (rs7135390) | 12 | 21598701 | PYROXD1 | c.285+301T>C | PASS | intron | 3 | 580 | 2404 | 244 | 92 | 0.2413 | |
| 12:21598708 T / C | 12 | 21598708 | PYROXD1 | c.285+308T>C | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21598879 C / _ | 12 | 21598879 | PYROXD1 | c.285+482delC | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21598884 G / A (rs1476904) | 12 | 21598884 | PYROXD1 | c.285+484G>A | PASS | intron | 3 | 117 | 2404 | 55 | 7 | 0.04867 | |
| 12:21598886 T / C (rs118171527) | 12 | 21598886 | PYROXD1 | c.285+486T>C | PASS | intron | 3 | 16 | 2404 | 7 | 2 | 0.006656 | |
| 12:21599006 A / G (rs1476905) | 12 | 21599006 | PYROXD1 | c.285+606A>G | PASS | intron | 3 | 300 | 2404 | 134 | 32 | 0.1248 | |
| 12:21599132 C / T (rs963269144) | 12 | 21599132 | PYROXD1 | c.285+732C>T | PASS | intron | 3 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21599139 T / C (rs1942384214) | 12 | 21599139 | PYROXD1 | c.285+739T>C | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21599153 T / A | 12 | 21599153 | PYROXD1 | c.285+753T>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21599162 C / G | 12 | 21599162 | PYROXD1 | c.285+762C>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21599194 A / G (rs907911660) | 12 | 21599194 | PYROXD1 | c.285+794A>G | PASS | intron | 3 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21599245 C / T | 12 | 21599245 | PYROXD1 | c.285+845C>T | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21599258 T / _ (rs10707147) | 12 | 21599258 | PYROXD1 | c.285+859delT | PASS | intron | 3 | 137 | 2404 | 62 | 13 | 0.05699 | |
| 12:21599283 C / A | 12 | 21599283 | PYROXD1 | c.285+883C>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21599301 G / T | 12 | 21599301 | PYROXD1 | c.285+901G>T | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21599302 T / G (rs7959893) | 12 | 21599302 | PYROXD1 | c.285+902T>G | PASS | intron | 3 | 129 | 2404 | 60 | 9 | 0.05366 | |
| 12:21599373 A / G (rs7973116) | 12 | 21599373 | PYROXD1 | c.285+973A>G | PASS | intron | 3 | 74 | 2404 | 35 | 4 | 0.03078 | |
| 12:21599446 T / _ (rs35292792) | 12 | 21599446 | PYROXD1 | c.285+1060delT | PASS | intron | 3 | 39 | 2404 | 19 | 1 | 0.01622 | |
| 12:21599717 C / T (rs67351735) | 12 | 21599717 | PYROXD1 | c.285+1317C>T | PASS | intron | 3 | 42 | 2404 | 18 | 6 | 0.01747 | |
| 12:21599779 T / G (rs73067963) | 12 | 21599779 | PYROXD1 | c.285+1379T>G | PASS | intron | 3 | 14 | 2404 | 6 | 2 | 0.005824 | |
| 12:21599852 A / G (rs555254621) | 12 | 21599852 | PYROXD1 | c.285+1452A>G | PASS | intron | 3 | 11 | 2404 | 5 | 1 | 0.004576 | |
| 12:21599866 T / C (rs117520340) | 12 | 21599866 | PYROXD1 | c.285+1466T>C | PASS | intron | 3 | 21 | 2404 | 8 | 5 | 0.008735 | |
| 12:21599903 GA / _ | 12 | 21599903 | PYROXD1 | c.285+1503_285+1504delGA | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21599940 C / A (rs77392592) | 12 | 21599940 | PYROXD1 | c.285+1540C>A | PASS | intron | 3 | 18 | 2404 | 9 | 0 | 0.007488 | |
| 12:21600044 C / T (rs17682270) | 12 | 21600044 | PYROXD1 | c.285+1644C>T | PASS | intron | 3 | 12 | 2404 | 6 | 0 | 0.004992 | |
| 12:21600145 G / T (rs73067965) | 12 | 21600145 | PYROXD1 | c.285+1745G>T | PASS | intron | 3 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21600175 T / C (rs7298136) | 12 | 21600175 | PYROXD1 | c.285+1775T>C | PASS | intron | 3 | 43 | 2404 | 20 | 3 | 0.01789 | |
| 12:21600404 G / T | 12 | 21600404 | PYROXD1 | c.285+2004G>T | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21600406 G / C (rs1476906) | 12 | 21600406 | PYROXD1 | c.285+2006G>C | PASS | intron | 3 | 35 | 2404 | 17 | 1 | 0.01456 | |
| 12:21600443 T / C (rs1476907) | 12 | 21600443 | PYROXD1 | c.285+2043T>C | PASS | intron | 3 | 40 | 2404 | 19 | 2 | 0.01664 | |
| 12:21600639 T / G (rs11046055) | 12 | 21600639 | PYROXD1 | , | c.286-1858T>G,ENST00000540463 | PASS | intron | 581 | 2404 | 247 | 87 | 0.2417 | |
| 12:21600737 G / A (rs11046056) | 12 | 21600737 | PYROXD1 | , | c.286-1760G>A,ENST00000540463 | PASS | intron | 366 | 2404 | 162 | 42 | 0.1522 | |
| 12:21600747 C / A | 12 | 21600747 | PYROXD1 | , | c.286-1750C>A,ENST00000540463 | PASS | intron | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21600791 C / T (rs1039465582) | 12 | 21600791 | PYROXD1 | , | c.286-1706C>T,ENST00000540463 | PASS | intron | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21600815 T / C | 12 | 21600815 | PYROXD1 | , | c.286-1682T>C,ENST00000540463 | PASS | intron | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21600838 A / G (rs11046057) | 12 | 21600838 | PYROXD1 | , | c.286-1659A>G,ENST00000540463 | PASS | intron | 416 | 2404 | 168 | 80 | 0.1730 | |
| 12:21600840 A / G (rs11046058) | 12 | 21600840 | PYROXD1 | , | c.286-1657A>G,ENST00000540463 | PASS | intron | 415 | 2404 | 167 | 81 | 0.1726 | |
| 12:21600848 G / T | 12 | 21600848 | PYROXD1 | , | c.286-1649G>T,ENST00000540463 | PASS | intron | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21600853 A / C (rs11046059) | 12 | 21600853 | PYROXD1 | , | c.286-1644A>C,ENST00000540463 | PASS | intron | 406 | 2404 | 162 | 82 | 0.1689 | |
| 12:21600865 T / C (rs11046060) | 12 | 21600865 | PYROXD1 | , | c.286-1632T>C,ENST00000540463 | PASS | intron | 399 | 2404 | 154 | 91 | 0.1660 | |
| 12:21600890 C / A | 12 | 21600890 | PYROXD1 | , | c.286-1607C>A,ENST00000540463 | PASS | intron | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21600897 A / G (rs144404606) | 12 | 21600897 | PYROXD1 | , | c.286-1600A>G,ENST00000540463 | PASS | intron | 101 | 2404 | 29 | 43 | 0.04201 | |
| 12:21600916 _ / A (rs34838731) | 12 | 21600916 | PYROXD1 | , | c.286-1568dupA,ENST00000540463 | PASS | intron | 400 | 2404 | 111 | 178 | 0.1664 | |
| 12:21600916 _ / AA (rs34838731) | 12 | 21600916 | PYROXD1 | , | c.286-1569_286-1568dupAA,ENST00000540463 | PASS | intron | 23 | 2404 | 5 | 13 | 0.009567 | |
| 12:21600916 A / _ (rs34838731) | 12 | 21600916 | PYROXD1 | , | c.286-1568delA,ENST00000540463 | PASS | intron | 41 | 2404 | 3 | 35 | 0.01705 | |
| 12:21600952 C / T (rs11046061) | 12 | 21600952 | PYROXD1 | , | c.286-1545C>T,ENST00000540463 | PASS | intron | 233 | 2404 | 35 | 163 | 0.09692 | |
| 12:21600953 G / A (rs10770811) | 12 | 21600953 | PYROXD1 | , | c.286-1544G>A,ENST00000540463 | PASS | intron | 2328 | 2404 | 1162 | 4 | 0.9684 | |
| 12:21600969 C / A | 12 | 21600969 | PYROXD1 | , | c.286-1528C>A,ENST00000540463 | PASS | intron | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21601119 C / A (rs896678101) | 12 | 21601119 | PYROXD1 | , | c.286-1378C>A,ENST00000540463 | PASS | intron | 3 | 2404 | 0 | 3 | 0.001248 | |
| 12:21601179 G / C | 12 | 21601179 | PYROXD1 | , | c.286-1318G>C,ENST00000540463 | PASS | intron | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21601214 G / A (rs185693412) | 12 | 21601214 | PYROXD1 | , | c.286-1283G>A,ENST00000540463 | PASS | intron | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21601491 C / T (rs2159947) | 12 | 21601491 | PYROXD1 | c.286-1006C>T | PASS | intron | 4 | 40 | 2404 | 19 | 2 | 0.01664 | |
| 12:21601503 T / C (rs2159948) | 12 | 21601503 | PYROXD1 | c.286-994T>C | PASS | intron | 4 | 36 | 2404 | 17 | 2 | 0.01498 | |
| 12:21601631 A / G (rs11610942) | 12 | 21601631 | PYROXD1 | c.286-866A>G | PASS | intron | 4 | 42 | 2404 | 20 | 2 | 0.01747 | |
| 12:21601762 T / G (rs7310953) | 12 | 21601762 | PYROXD1 | c.286-735T>G | PASS | intron | 4 | 21 | 2404 | 10 | 1 | 0.008735 | |
| 12:21601932 A / T (rs2417984) | 12 | 21601932 | PYROXD1 | c.286-565A>T | PASS | intron | 4 | 31 | 2404 | 15 | 1 | 0.01290 | |
| 12:21602145 A / G (rs73067973) | 12 | 21602145 | PYROXD1 | c.286-352A>G | PASS | intron | 4 | 12 | 2404 | 5 | 2 | 0.004992 | |
| 12:21602237 T / C (rs61926272) | 12 | 21602237 | PYROXD1 | c.286-260T>C | PASS | intron | 4 | 15 | 2404 | 4 | 7 | 0.006240 | |
| 12:21602263 C / T (rs1591942859) | 12 | 21602263 | PYROXD1 | c.286-234C>T | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21602299 T / _ (rs3834485) | 12 | 21602299 | PYROXD1 | c.286-196delT | PASS | intron | 4 | 1130 | 2404 | 301 | 528 | 0.4701 | |
| 12:21602437 A / G (rs147619410) | 12 | 21602437 | PYROXD1 | c.286-60A>G | PASS | intron | 4 | 22 | 2404 | 2 | 18 | 0.009151 | |
| 12:21602578 G / A (rs763695742) | 12 | 21602578 | PYROXD1 | p.Glu123Lys | c.367G>A | PASS | missense | 4 | 3 | 2404 | 0 | 3 | 0.001248 |
| 12:21602639 G / T (rs778904159) | 12 | 21602639 | PYROXD1 | c.414+14G>T | PASS | intron | 4 | 3 | 2404 | 0 | 3 | 0.001248 | |
| 12:21602783 A / G (rs1002621609) | 12 | 21602783 | PYROXD1 | c.414+158A>G | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21602793 _ / T (rs71537701) | 12 | 21602793 | PYROXD1 | c.414+184dupT | PASS | intron | 4 | 37 | 2404 | 3 | 31 | 0.01539 | |
| 12:21602793 T / _ (rs71537701) | 12 | 21602793 | PYROXD1 | c.414+184delT | PASS | intron | 4 | 90 | 2404 | 3 | 84 | 0.03744 | |
| 12:21602793 TTTTTTTTTTTT / _ (rs71537701) | 12 | 21602793 | PYROXD1 | c.414+173_414+184delTTTTTTTTTTTT | PASS | intron | 4 | 1173 | 2404 | 348 | 477 | 0.4879 | |
| 12:21602815 G / A (rs71537702) | 12 | 21602815 | PYROXD1 | c.414+190G>A | PASS | intron | 4 | 225 | 2404 | 41 | 143 | 0.09359 | |
| 12:21602861 G / A (rs149136683) | 12 | 21602861 | PYROXD1 | c.414+236G>A | PASS | intron | 4 | 50 | 2404 | 13 | 24 | 0.02080 | |
| 12:21602940 T / C | 12 | 21602940 | PYROXD1 | c.414+315T>C | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21602941 G / A (rs1433282978) | 12 | 21602941 | PYROXD1 | c.414+316G>A | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21602943 C / T (rs4762826) | 12 | 21602943 | PYROXD1 | c.414+318C>T | PASS | intron | 4 | 270 | 2404 | 109 | 52 | 0.1123 | |
| 12:21602955 C / T (rs61926273) | 12 | 21602955 | PYROXD1 | c.414+330C>T | PASS | intron | 4 | 251 | 2404 | 107 | 37 | 0.1044 | |
| 12:21602959 TT / _ (rs57680030) | 12 | 21602959 | PYROXD1 | c.414+350_414+351delTT | PASS | intron | 4 | 46 | 2404 | 22 | 2 | 0.01913 | |
| 12:21602959 TTT / _ (rs57680030) | 12 | 21602959 | PYROXD1 | c.414+349_414+351delTTT | PASS | intron | 4 | 12 | 2404 | 4 | 4 | 0.004992 | |
| 12:21602959 TTTT / _ (rs57680030) | 12 | 21602959 | PYROXD1 | c.414+348_414+351delTTTT | PASS | intron | 4 | 128 | 2404 | 52 | 24 | 0.05324 | |
| 12:21602959 TTTTT / _ (rs57680030) | 12 | 21602959 | PYROXD1 | c.414+347_414+351delTTTTT | PASS | intron | 4 | 27 | 2404 | 10 | 7 | 0.01123 | |
| 12:21603038 C / T (rs4762827) | 12 | 21603038 | PYROXD1 | c.414+413C>T | PASS | intron | 4 | 244 | 2404 | 114 | 16 | 0.1015 | |
| 12:21603039 G / A (rs4762828) | 12 | 21603039 | PYROXD1 | c.414+414G>A | PASS | intron | 4 | 244 | 2404 | 114 | 16 | 0.1015 | |
| 12:21603053 A / C | 12 | 21603053 | PYROXD1 | c.414+428A>C | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21603055 _ / GCC (rs111255312) | 12 | 21603055 | PYROXD1 | c.414+430_414+432dupGCC | PASS | intron | 4 | 36 | 2404 | 14 | 8 | 0.01498 | |
| 12:21603060 C / G | 12 | 21603060 | PYROXD1 | c.414+435C>G | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21603063 G / A | 12 | 21603063 | PYROXD1 | c.414+438G>A | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21603344 A / G (rs4762829) | 12 | 21603344 | PYROXD1 | c.414+719A>G | PASS | intron | 4 | 60 | 2404 | 29 | 2 | 0.02496 | |
| 12:21603429 C / A (rs10841814) | 12 | 21603429 | PYROXD1 | c.414+804C>A | PASS | intron | 4 | 12 | 2404 | 5 | 2 | 0.004992 | |
| 12:21603489 T / G (rs7133853) | 12 | 21603489 | PYROXD1 | c.414+864T>G | PASS | intron | 4 | 30 | 2404 | 14 | 2 | 0.01248 | |
| 12:21603801 T / C (rs7134243) | 12 | 21603801 | PYROXD1 | c.414+1176T>C | PASS | intron | 4 | 63 | 2404 | 31 | 1 | 0.02621 | |
| 12:21603819 A / C (rs7303408) | 12 | 21603819 | PYROXD1 | c.414+1194A>C | PASS | intron | 4 | 65 | 2404 | 32 | 1 | 0.02704 | |
| 12:21603877 G / A (rs17682462) | 12 | 21603877 | PYROXD1 | c.415-1138G>A | PASS | intron | 5 | 37 | 2404 | 18 | 1 | 0.01539 | |
| 12:21604108 G / A (rs2215734) | 12 | 21604108 | PYROXD1 | c.415-907G>A | PASS | intron | 5 | 12 | 2404 | 6 | 0 | 0.004992 | |
| 12:21604163 C / _ (rs146621631) | 12 | 21604163 | PYROXD1 | c.415-852delC | PASS | intron | 5 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21604163 C / T (rs5796902) | 12 | 21604163 | PYROXD1 | c.415-852C>T | PASS | intron | 5 | 8 | 2404 | 4 | 0 | 0.003328 | |
| 12:21604181 C / A (rs2192176) | 12 | 21604181 | PYROXD1 | c.415-834C>A | PASS | intron | 5 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21604199 A / C (rs2192177) | 12 | 21604199 | PYROXD1 | c.415-816A>C | PASS | intron | 5 | 10 | 2404 | 5 | 0 | 0.004160 | |
| 12:21604480 A / G (rs367663905) | 12 | 21604480 | PYROXD1 | c.415-535A>G | PASS | intron | 5 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21604518 A / G (rs10841815) | 12 | 21604518 | PYROXD1 | c.415-497A>G | PASS | intron | 5 | 88 | 2404 | 41 | 6 | 0.03661 | |
| 12:21604601 C / A | 12 | 21604601 | PYROXD1 | c.415-414C>A | PASS | intron | 5 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21604617 _ / TTCTCA (rs71539403) | 12 | 21604617 | PYROXD1 | c.415-395_415-390dupTCATTC | PASS | intron | 5 | 80 | 2404 | 40 | 0 | 0.03328 | |
| 12:21604740 C / T (rs10770812) | 12 | 21604740 | PYROXD1 | c.415-275C>T | PASS | intron | 5 | 287 | 2404 | 121 | 45 | 0.1194 | |
| 12:21604779 A / G (rs71539404) | 12 | 21604779 | PYROXD1 | c.415-236A>G | PASS | intron | 5 | 71 | 2404 | 19 | 33 | 0.02953 | |
| 12:21604864 G / A (rs907794247) | 12 | 21604864 | PYROXD1 | c.415-151G>A | PASS | intron | 5 | 4 | 2404 | 0 | 4 | 0.001664 | |
| 12:21604969 G / A | 12 | 21604969 | PYROXD1 | c.415-46G>A | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21605042 A / G (rs778187363) | 12 | 21605042 | PYROXD1 | p.Lys148Glu | c.442A>G | PASS | missense | 5 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21605117 _ / AT (rs71539405) | 12 | 21605117 | PYROXD1 | c.488+29_488+30dupAT | PASS | intron | 5 | 207 | 2404 | 27 | 153 | 0.08611 | |
| 12:21605131 A / G (rs149232327) | 12 | 21605131 | PYROXD1 | c.488+43A>G | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21605134 A / G (rs11046062) | 12 | 21605134 | PYROXD1 | c.488+46A>G | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21605156 AATT / _ (rs551532182) | 12 | 21605156 | PYROXD1 | c.488+68_488+71delAATT | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21605157 A / C (rs3759229) | 12 | 21605157 | PYROXD1 | c.488+69A>C | PASS | intron | 5 | 939 | 2403 | 270 | 399 | 0.3908 | |
| 12:21605224 A / G (rs1942515422) | 12 | 21605224 | PYROXD1 | c.488+136A>G | PASS | intron | 5 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21605267 _ / T (rs1942516372) | 12 | 21605267 | PYROXD1 | c.488+185dupT | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21605366 G / T (rs11046064) | 12 | 21605366 | PYROXD1 | c.488+278G>T | PASS | intron | 5 | 323 | 2404 | 119 | 85 | 0.1344 | |
| 12:21605367 C / A | 12 | 21605367 | PYROXD1 | c.488+279C>A | PASS | intron | 5 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21605464 T / C (rs67104487) | 12 | 21605464 | PYROXD1 | c.488+376T>C | PASS | intron | 5 | 16 | 2404 | 7 | 2 | 0.006656 | |
| 12:21605477 A / C (rs10841816) | 12 | 21605477 | PYROXD1 | c.488+389A>C | PASS | intron | 5 | 91 | 2404 | 44 | 3 | 0.03785 | |
| 12:21605486 A / C (rs11046065) | 12 | 21605486 | PYROXD1 | c.488+398A>C | PASS | intron | 5 | 89 | 2404 | 43 | 3 | 0.03702 | |
| 12:21605507 C / T (rs4762830) | 12 | 21605507 | PYROXD1 | c.488+419C>T | PASS | intron | 5 | 89 | 2404 | 44 | 1 | 0.03702 | |
| 12:21605518 C / A (rs4762831) | 12 | 21605518 | PYROXD1 | c.488+430C>A | PASS | intron | 5 | 91 | 2404 | 45 | 1 | 0.03785 | |
| 12:21605622 C / T (rs4762832) | 12 | 21605622 | PYROXD1 | c.488+534C>T | PASS | intron | 5 | 84 | 2404 | 42 | 0 | 0.03494 | |
| 12:21605755 A / G (rs4762833) | 12 | 21605755 | PYROXD1 | c.488+667A>G | PASS | intron | 5 | 85 | 2404 | 41 | 3 | 0.03536 | |
| 12:21605814 TT / _ (rs149859381) | 12 | 21605814 | PYROXD1 | c.488+727_488+728delTT | PASS | intron | 5 | 20 | 2404 | 10 | 0 | 0.008319 | |
| 12:21606063 G / A (rs6487225) | 12 | 21606063 | PYROXD1 | c.488+975G>A | PASS | intron | 5 | 86 | 2404 | 43 | 0 | 0.03577 | |
| 12:21606115 A / G (rs58218666) | 12 | 21606115 | PYROXD1 | c.488+1027A>G | PASS | intron | 5 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21606127 G / A (rs7980058) | 12 | 21606127 | PYROXD1 | c.488+1039G>A | PASS | intron | 5 | 10 | 2404 | 5 | 0 | 0.004160 | |
| 12:21606131 T / C (rs7966443) | 12 | 21606131 | PYROXD1 | c.488+1043T>C | PASS | intron | 5 | 10 | 2404 | 5 | 0 | 0.004160 | |
| 12:21606443 CTTT / _ (rs10551001) | 12 | 21606443 | PYROXD1 | c.488+1357_488+1360delTTCT | PASS | intron | 5 | 44 | 2404 | 21 | 2 | 0.01830 | |
| 12:21606510 T / C (rs2192178) | 12 | 21606510 | PYROXD1 | c.488+1422T>C | PASS | intron | 5 | 166 | 2404 | 83 | 0 | 0.06905 | |
| 12:21606718 G / C (rs73067995) | 12 | 21606718 | PYROXD1 | c.489-1348G>C | PASS | intron | 6 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21606769 A / T (rs7980474) | 12 | 21606769 | PYROXD1 | c.489-1297A>T | PASS | intron | 6 | 33 | 2404 | 16 | 1 | 0.01373 | |
| 12:21606953 TA / _ (rs72374722) | 12 | 21606953 | PYROXD1 | c.489-1112_489-1111delAT | PASS | intron | 6 | 9 | 2404 | 4 | 1 | 0.003744 | |
| 12:21606998 G / A (rs7980957) | 12 | 21606998 | PYROXD1 | c.489-1068G>A | PASS | intron | 6 | 53 | 2404 | 26 | 1 | 0.02205 | |
| 12:21607152 A / G (rs10841817) | 12 | 21607152 | PYROXD1 | c.489-914A>G | PASS | intron | 6 | 94 | 2404 | 47 | 0 | 0.03910 | |
| 12:21607512 T / G (rs3919535) | 12 | 21607512 | PYROXD1 | c.489-554T>G | PASS | intron | 6 | 65 | 2404 | 31 | 3 | 0.02704 | |
| 12:21607514 T / C (rs10770813) | 12 | 21607514 | PYROXD1 | c.489-552T>C | PASS | intron | 6 | 65 | 2404 | 31 | 3 | 0.02704 | |
| 12:21607571 G / A (rs73083854) | 12 | 21607571 | PYROXD1 | c.489-495G>A | PASS | intron | 6 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21607679 G / A (rs2192179) | 12 | 21607679 | PYROXD1 | c.489-387G>A | PASS | intron | 6 | 81 | 2404 | 40 | 1 | 0.03369 | |
| 12:21607799 C / T (rs2192180) | 12 | 21607799 | PYROXD1 | n.84C>T | PASS | non coding exon | 1 | 168 | 2404 | 84 | 0 | 0.06988 | |
| 12:21607903 C / T (rs2192181) | 12 | 21607903 | PYROXD1 | n.188C>T | PASS | non coding exon | 1 | 132 | 2404 | 66 | 0 | 0.05491 | |
| 12:21607945 TCCCA / _ | 12 | 21607945 | PYROXD1 | n.230_234delTCCCA | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21607951 TTAGCCTTAAAAATGTATTC... / _ | 12 | 21607951 | PYROXD1 | n.236_328del | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21608011 G / T (rs2192182) | 12 | 21608011 | PYROXD1 | n.296G>T | PASS | non coding exon | 1 | 484 | 2404 | 182 | 120 | 0.2013 | |
| 12:21608043 A / G (rs2192183) | 12 | 21608043 | PYROXD1 | n.328A>G | PASS | non coding exon | 1 | 717 | 2404 | 239 | 239 | 0.2983 | |
| 12:21608110 A / C | 12 | 21608110 | PYROXD1 | n.395A>C | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21608188 C / A | 12 | 21608188 | PYROXD1 | n.473C>A | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21608216 T / C | 12 | 21608216 | PYROXD1 | n.501T>C | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21608258 T / C (rs367872308) | 12 | 21608258 | PYROXD1 | n.511+32T>C | PASS | intron | 1 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21608392 T / C (rs7974743) | 12 | 21608392 | PYROXD1 | n.511+166T>C | PASS | intron | 1 | 73 | 2404 | 30 | 13 | 0.03037 | |
| 12:21608397 TA / _ (rs10595518) | 12 | 21608397 | PYROXD1 | n.511+185_511+186delTA | PASS | intron | 1 | 49 | 2404 | 20 | 9 | 0.02038 | |
| 12:21608519 G / A (rs7294351) | 12 | 21608519 | PYROXD1 | n.511+293G>A | PASS | intron | 1 | 22 | 2404 | 11 | 0 | 0.009151 | |
| 12:21608570 T / C | 12 | 21608570 | PYROXD1 | n.511+344T>C | PASS | intron | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21608585 T / C (rs7310391) | 12 | 21608585 | PYROXD1 | n.512-344T>C | PASS | intron | 2 | 23 | 2404 | 11 | 1 | 0.009567 | |
| 12:21608595 AAAC / _ (rs142770417) | 12 | 21608595 | PYROXD1 | n.512-332_512-329delACAA | PASS | intron | 2 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21608633 T / G (rs7310494) | 12 | 21608633 | PYROXD1 | n.512-296T>G | PASS | intron | 2 | 50 | 2404 | 25 | 0 | 0.02080 | |
| 12:21608732 C / T (rs2302499) | 12 | 21608732 | PYROXD1 | n.512-197C>T | PASS | intron | 2 | 155 | 2404 | 73 | 9 | 0.06448 | |
| 12:21608880 AT / _ (rs772248140) | 12 | 21608880 | PYROXD1 | n.512-47_512-46delAT | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21608891 T / C (rs2302500) | 12 | 21608891 | PYROXD1 | n.512-38T>C | PASS | intron | 2 | 979 | 2404 | 286 | 407 | 0.4072 | |
| 12:21609125 T / C (rs576936259) | 12 | 21609125 | PYROXD1 | c.750+96T>C | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21609127 T / C (rs4367993) | 12 | 21609127 | PYROXD1 | c.750+98T>C | PASS | intron | 7 | 2391 | 2404 | 1193 | 5 | 0.9946 | |
| 12:21609180 T / G (rs11046066) | 12 | 21609180 | PYROXD1 | c.750+151T>G | PASS | intron | 7 | 273 | 2404 | 27 | 219 | 0.1136 | |
| 12:21609221 C / T (rs1565550682) | 12 | 21609221 | PYROXD1 | c.750+192C>T | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21609222 G / T (rs4388943) | 12 | 21609222 | PYROXD1 | c.750+193G>T | PASS | intron | 7 | 928 | 2404 | 270 | 388 | 0.3860 | |
| 12:21609229 G / A (rs75247397) | 12 | 21609229 | PYROXD1 | c.750+200G>A | PASS | intron | 7 | 9 | 2404 | 2 | 5 | 0.003744 | |
| 12:21609276 T / C (rs560594603) | 12 | 21609276 | PYROXD1 | c.750+247T>C | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21609280 C / A (rs4306326) | 12 | 21609280 | PYROXD1 | c.750+251C>A | PASS | intron | 7 | 182 | 2404 | 48 | 86 | 0.07571 | |
| 12:21609288 C / T (rs4388944) | 12 | 21609288 | PYROXD1 | c.750+259C>T | PASS | intron | 7 | 535 | 2404 | 194 | 147 | 0.2225 | |
| 12:21609323 C / A (rs4539382) | 12 | 21609323 | PYROXD1 | c.750+294C>A | PASS | intron | 7 | 243 | 2404 | 93 | 57 | 0.1011 | |
| 12:21609357 C / T (rs868694137) | 12 | 21609357 | PYROXD1 | c.750+328C>T | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21609380 C / A | 12 | 21609380 | PYROXD1 | c.750+351C>A | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21609382 G / A (rs2417985) | 12 | 21609382 | PYROXD1 | c.750+353G>A | PASS | intron | 7 | 390 | 2404 | 195 | 0 | 0.1622 | |
| 12:21609385 A / G (rs73083865) | 12 | 21609385 | PYROXD1 | c.750+356A>G | PASS | intron | 7 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21609552 G / A (rs2417986) | 12 | 21609552 | PYROXD1 | c.750+523G>A | PASS | intron | 7 | 985 | 2404 | 492 | 1 | 0.4097 | |
| 12:21609684 A / G (rs55861860) | 12 | 21609684 | PYROXD1 | c.750+655A>G | PASS | intron | 7 | 357 | 2404 | 29 | 299 | 0.1485 | |
| 12:21609733 A / G (rs7964140) | 12 | 21609733 | PYROXD1 | c.750+704A>G | PASS | intron | 7 | 1203 | 2404 | 304 | 595 | 0.5004 | |
| 12:21609762 _ / AACT (rs34335650) | 12 | 21609762 | PYROXD1 | c.750+734_750+735insCTAA | PASS | intron | 7 | 1194 | 2404 | 295 | 604 | 0.4967 | |
| 12:21609773 A / G (rs7964152) | 12 | 21609773 | PYROXD1 | c.750+744A>G | PASS | intron | 7 | 282 | 2404 | 16 | 250 | 0.1173 | |
| 12:21609789 A / G | 12 | 21609789 | PYROXD1 | c.750+760A>G | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21609805 T / C (rs1942607026) | 12 | 21609805 | PYROXD1 | c.750+776T>C | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21609907 G / A (rs7964568) | 12 | 21609907 | PYROXD1 | c.750+878G>A | PASS | intron | 7 | 1193 | 2404 | 295 | 603 | 0.4963 | |
| 12:21609936 A / G (rs68030467) | 12 | 21609936 | PYROXD1 | c.750+907A>G | PASS | intron | 7 | 413 | 2404 | 35 | 343 | 0.1718 | |
| 12:21609976 C / A (rs934086386) | 12 | 21609976 | PYROXD1 | c.750+947C>A | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21610022 T / C (rs532400127) | 12 | 21610022 | PYROXD1 | c.750+993T>C | PASS | intron | 7 | 6 | 2404 | 1 | 4 | 0.002496 | |
| 12:21610027 G / A (rs6487226) | 12 | 21610027 | PYROXD1 | c.750+998G>A | PASS | intron | 7 | 731 | 2404 | 241 | 249 | 0.3041 | |
| 12:21610098 AAC / _ (rs74962202) | 12 | 21610098 | PYROXD1 | c.750+1070_750+1072delACA | PASS | intron | 7 | 316 | 2404 | 125 | 66 | 0.1314 | |
| 12:21610124 A / G (rs6487227) | 12 | 21610124 | PYROXD1 | c.750+1095A>G | PASS | intron | 7 | 314 | 2404 | 126 | 62 | 0.1306 | |
| 12:21610244 T / C (rs4551820) | 12 | 21610244 | PYROXD1 | c.750+1215T>C | PASS | intron | 7 | 179 | 2404 | 85 | 9 | 0.07446 | |
| 12:21610362 T / G (rs7133445) | 12 | 21610362 | PYROXD1 | c.750+1333T>G | PASS | intron | 7 | 33 | 2404 | 16 | 1 | 0.01373 | |
| 12:21610368 T / _ (rs202025872) | 12 | 21610368 | PYROXD1 | c.750+1353delT | PASS | intron | 7 | 20 | 2404 | 9 | 2 | 0.008319 | |
| 12:21610368 TT / _ (rs202025872) | 12 | 21610368 | PYROXD1 | c.750+1352_750+1353delTT | PASS | intron | 7 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21610414 A / T (rs4423237) | 12 | 21610414 | PYROXD1 | c.750+1385A>T | PASS | intron | 7 | 51 | 2404 | 24 | 3 | 0.02121 | |
| 12:21610564 G / T | 12 | 21610564 | PYROXD1 | c.750+1535G>T | PASS | intron | 7 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21610587 G / T | 12 | 21610587 | PYROXD1 | c.750+1558G>T | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21610693 A / T (rs61926294) | 12 | 21610693 | PYROXD1 | c.750+1664A>T | PASS | intron | 7 | 174 | 2404 | 81 | 12 | 0.07238 | |
| 12:21610694 C / A (rs1565551597) | 12 | 21610694 | PYROXD1 | c.750+1665C>A | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21610746 _ / TCCAGTCACCTCCCACCAGG... (rs71444124) | 12 | 21610746 | PYROXD1 | c.750+1721_750+1747dup | PASS | intron | 7 | 30 | 2404 | 15 | 0 | 0.01248 | |
| 12:21610776 _ / AGTCACCTCCCACCAGGCCG... | 12 | 21610776 | PYROXD1 | c.750+1747_750+1748ins(27) | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21610800 T / G (rs78169106) | 12 | 21610800 | PYROXD1 | c.750+1771T>G | PASS | intron | 7 | 19 | 2404 | 9 | 1 | 0.007903 | |
| 12:21611259 C / T (rs2417987) | 12 | 21611259 | PYROXD1 | c.750+2230C>T | PASS | intron | 7 | 49 | 2404 | 23 | 3 | 0.02038 | |
| 12:21611472 G / A (rs12423128) | 12 | 21611472 | PYROXD1 | c.750+2443G>A | PASS | intron | 7 | 86 | 2404 | 42 | 2 | 0.03577 | |
| 12:21611630 G / A (rs12423151) | 12 | 21611630 | PYROXD1 | c.751-2329G>A | PASS | intron | 8 | 289 | 2404 | 139 | 11 | 0.1202 | |
| 12:21611981 T / C (rs6487228) | 12 | 21611981 | PYROXD1 | c.751-1978T>C | PASS | intron | 8 | 89 | 2404 | 43 | 3 | 0.03702 | |
| 12:21612044 C / T (rs75855630) | 12 | 21612044 | PYROXD1 | c.751-1915C>T | PASS | intron | 8 | 5 | 2404 | 2 | 1 | 0.002080 | |
| 12:21612183 A / G (rs6487229) | 12 | 21612183 | PYROXD1 | c.751-1776A>G | PASS | intron | 8 | 80 | 2404 | 38 | 4 | 0.03328 | |
| 12:21612337 C / T (rs6487230) | 12 | 21612337 | PYROXD1 | c.751-1622C>T | PASS | intron | 8 | 78 | 2404 | 38 | 2 | 0.03245 | |
| 12:21612363 C / T (rs6487231) | 12 | 21612363 | PYROXD1 | c.751-1596C>T | PASS | intron | 8 | 81 | 2404 | 40 | 1 | 0.03369 | |
| 12:21612706 A / G (rs7133827) | 12 | 21612706 | PYROXD1 | c.751-1253A>G | PASS | intron | 8 | 58 | 2404 | 28 | 2 | 0.02413 | |
| 12:21612833 A / C (rs11046068) | 12 | 21612833 | PYROXD1 | c.751-1126A>C | PASS | intron | 8 | 15 | 2404 | 7 | 1 | 0.006240 | |
| 12:21612914 C / T (rs7134195) | 12 | 21612914 | PYROXD1 | c.751-1045C>T | PASS | intron | 8 | 130 | 2404 | 65 | 0 | 0.05408 | |
| 12:21613004 T / C (rs75975580) | 12 | 21613004 | PYROXD1 | c.751-955T>C | PASS | intron | 8 | 31 | 2404 | 15 | 1 | 0.01290 | |
| 12:21613114 T / A (rs11046069) | 12 | 21613114 | PYROXD1 | c.751-845T>A | PASS | intron | 8 | 105 | 2404 | 49 | 7 | 0.04368 | |
| 12:21613119 G / A (rs368887602) | 12 | 21613119 | PYROXD1 | c.751-840G>A | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21613148 C / T (rs11046070) | 12 | 21613148 | PYROXD1 | c.751-811C>T | PASS | intron | 8 | 85 | 2404 | 42 | 1 | 0.03536 | |
| 12:21613169 _ / ATTA (rs76516114) | 12 | 21613169 | PYROXD1 | c.751-790_751-787dupATTA | PASS | intron | 8 | 65 | 2404 | 32 | 1 | 0.02704 | |
| 12:21613270 G / A (rs11046071) | 12 | 21613270 | PYROXD1 | c.751-689G>A | PASS | intron | 8 | 16 | 2404 | 8 | 0 | 0.006656 | |
| 12:21613313 G / A (rs61926296) | 12 | 21613313 | PYROXD1 | c.751-646G>A | PASS | intron | 8 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21613363 A / _ (rs199964859) | 12 | 21613363 | PYROXD1 | c.751-596delA | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21613366 TA / _ (rs200424385) | 12 | 21613366 | PYROXD1 | c.751-592_751-591delAT | PASS | intron | 8 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21613450 C / T (rs141780788) | 12 | 21613450 | PYROXD1 | c.751-509C>T | PASS | intron | 8 | 14 | 2404 | 7 | 0 | 0.005824 | |
| 12:21613502 C / T (rs11046072) | 12 | 21613502 | PYROXD1 | c.751-457C>T | PASS | intron | 8 | 6 | 2404 | 2 | 2 | 0.002496 | |
| 12:21613679 A / T (rs7138089) | 12 | 21613679 | PYROXD1 | c.751-280A>T | PASS | intron | 8 | 194 | 2404 | 91 | 12 | 0.08070 | |
| 12:21613867 A / G (rs7138359) | 12 | 21613867 | PYROXD1 | n.31A>G | PASS | non coding exon | 1 | 259 | 2404 | 108 | 43 | 0.1077 | |
| 12:21613923 T / C (rs7309539) | 12 | 21613923 | PYROXD1 | n.87T>C | PASS | non coding exon | 1 | 575 | 2404 | 194 | 187 | 0.2392 | |
| 12:21614051 T / C (rs143417761) | 12 | 21614051 | PYROXD1 | n.215T>C | PASS | non coding exon | 1 | 3 | 2404 | 0 | 3 | 0.001248 | |
| 12:21614142 AATTT / _ (rs60965674) | 12 | 21614142 | PYROXD1 | n.252+57_252+61delTTAAT | PASS | intron | 1 | 1011 | 2404 | 287 | 437 | 0.4205 | |
| 12:21614256 G / A (rs7297084) | 12 | 21614256 | PYROXD1 | n.252+168G>A | PASS | intron | 1 | 401 | 2404 | 147 | 107 | 0.1668 | |
| 12:21614601 A / G (rs10841818) | 12 | 21614601 | PYROXD1 | n.253-341A>G | PASS | intron | 2 | 17 | 2404 | 8 | 1 | 0.007072 | |
| 12:21614897 C / T (rs148210261) | 12 | 21614897 | PYROXD1 | n.253-45C>T | PASS | intron | 2 | 4 | 2404 | 0 | 4 | 0.001664 | |
| 12:21614903 A / G (rs3825287) | 12 | 21614903 | PYROXD1 | n.253-39A>G | PASS | intron | 2 | 883 | 2404 | 258 | 367 | 0.3673 | |
| 12:21614936 T / G (rs185019468) | 12 | 21614936 | PYROXD1 | n.253-6T>G | PASS | splice region | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21615076 C / T (rs567723722) | 12 | 21615076 | PYROXD1 | n.370+17C>T | PASS | intron | 2 | 6 | 2404 | 0 | 6 | 0.002496 | |
| 12:21615084 A / C (rs372975909) | 12 | 21615084 | PYROXD1 | n.370+25A>C | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21615124 A / G (rs1942710909) | 12 | 21615124 | PYROXD1 | n.370+65A>G | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21615207 A / G (rs3213210) | 12 | 21615207 | PYROXD1 | n.370+148A>G | PASS | intron | 2 | 763 | 2404 | 172 | 419 | 0.3174 | |
| 12:21615248 T / G (rs3825289) | 12 | 21615248 | PYROXD1 | n.370+189T>G | PASS | intron | 2 | 712 | 2404 | 212 | 288 | 0.2962 | |
| 12:21615249 G / T (rs576450850) | 12 | 21615249 | PYROXD1 | n.370+190G>T | PASS | intron | 2 | 104 | 2404 | 14 | 76 | 0.04326 | |
| 12:21615257 G / A (rs3213211) | 12 | 21615257 | PYROXD1 | n.370+198G>A | PASS | intron | 2 | 699 | 2404 | 211 | 277 | 0.2908 | |
| 12:21615318 C / T (rs10770814) | 12 | 21615318 | PYROXD1 | n.370+259C>T | PASS | intron | 2 | 279 | 2404 | 113 | 53 | 0.1161 | |
| 12:21615393 A / G | 12 | 21615393 | PYROXD1 | n.371-281A>G | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21615395 A / _ (rs71043278) | 12 | 21615395 | PYROXD1 | n.371-267delA | PASS | intron | 3 | 97 | 2404 | 48 | 1 | 0.04035 | |
| 12:21615664 T / C (rs3782660) | 12 | 21615664 | PYROXD1 | n.371-10T>C | PASS | intron | 3 | 1099 | 2404 | 310 | 479 | 0.4572 | |
| 12:21615735 A / G (rs151265631) | 12 | 21615735 | PYROXD1 | n.432A>G | PASS | non coding exon | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21615810 T / C (rs199500257) | 12 | 21615810 | PYROXD1 | n.493+14T>C | PASS | intron | 3 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21615817 A / T | 12 | 21615817 | PYROXD1 | n.493+21A>T | PASS | intron | 3 | 3 | 2404 | 0 | 3 | 0.001248 | |
| 12:21615829 C / A | 12 | 21615829 | PYROXD1 | n.493+33C>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21615854 G / A (rs73067230) | 12 | 21615854 | PYROXD1 | n.493+58G>A | PASS | intron | 3 | 10 | 2404 | 0 | 10 | 0.004160 | |
| 12:21615871 C / T (rs187981519) | 12 | 21615871 | PYROXD1 | n.493+75C>T | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21615894 T / G (rs73067231) | 12 | 21615894 | PYROXD1 | n.493+98T>G | PASS | intron | 3 | 78 | 2404 | 3 | 72 | 0.03245 | |
| 12:21615918 _ / AG (rs34595378) | 12 | 21615918 | PYROXD1 | n.493+122_493+123dupAG | PASS | intron | 3 | 1139 | 2404 | 297 | 545 | 0.4738 | |
| 12:21615932 _ / T (rs199575795) | 12 | 21615932 | PYROXD1 | n.493+138dupT | PASS | intron | 3 | 29 | 2404 | 5 | 19 | 0.01206 | |
| 12:21615935 A / _ (rs574532434) | 12 | 21615935 | PYROXD1 | n.493+148delA | PASS | intron | 3 | 10 | 2404 | 2 | 6 | 0.004160 | |
| 12:21615935 A / T (rs10841819) | 12 | 21615935 | PYROXD1 | n.493+139A>T | PASS | intron | 3 | 941 | 2404 | 272 | 397 | 0.3914 | |
| 12:21616067 AGG / _ (rs35887573) | 12 | 21616067 | PYROXD1 | n.493+273_493+275delGAG | PASS | intron | 3 | 246 | 2404 | 112 | 22 | 0.1023 | |
| 12:21616105 C / T (rs10841820) | 12 | 21616105 | PYROXD1 | n.493+309C>T | PASS | intron | 3 | 5 | 2404 | 2 | 1 | 0.002080 | |
| 12:21616223 G / A (rs12424924) | 12 | 21616223 | PYROXD1 | n.493+427G>A | PASS | intron | 3 | 33 | 2404 | 16 | 1 | 0.01373 | |
| 12:21616258 A / G | 12 | 21616258 | PYROXD1 | n.493+462A>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21616259 C / T (rs7970416) | 12 | 21616259 | PYROXD1 | n.493+463C>T | PASS | intron | 3 | 99 | 2404 | 47 | 5 | 0.04118 | |
| 12:21616305 C / T (rs10770815) | 12 | 21616305 | PYROXD1 | n.493+509C>T | PASS | intron | 3 | 209 | 2404 | 97 | 15 | 0.08694 | |
| 12:21616558 G / A (rs7971031) | 12 | 21616558 | PYROXD1 | n.493+762G>A | PASS | intron | 3 | 98 | 2404 | 45 | 8 | 0.04077 | |
| 12:21616574 T / C | 12 | 21616574 | PYROXD1 | n.493+778T>C | PASS | intron | 3 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21616593 C / T (rs1942739410) | 12 | 21616593 | PYROXD1 | n.493+797C>T | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21616598 C / T (rs11046073) | 12 | 21616598 | PYROXD1 | n.493+802C>T | PASS | intron | 3 | 59 | 2404 | 28 | 3 | 0.02454 | |
| 12:21616627 _ / AAA (rs11325981) | 12 | 21616627 | PYROXD1 | n.493+845_493+847dupAAA | PASS | intron | 3 | 8 | 2404 | 4 | 0 | 0.003328 | |
| 12:21616627 _ / AAAA (rs11325981) | 12 | 21616627 | PYROXD1 | n.493+844_493+847dupAAAA | PASS | intron | 3 | 5 | 2404 | 2 | 1 | 0.002080 | |
| 12:21616627 A / _ (rs11325981) | 12 | 21616627 | PYROXD1 | n.493+847delA | PASS | intron | 3 | 33 | 2404 | 16 | 1 | 0.01373 | |
| 12:21616627 AA / _ (rs11325981) | 12 | 21616627 | PYROXD1 | n.493+846_493+847delAA | PASS | intron | 3 | 8 | 2404 | 4 | 0 | 0.003328 | |
| 12:21616841 T / C (rs10841821) | 12 | 21616841 | PYROXD1 | n.493+1045T>C | PASS | intron | 3 | 76 | 2404 | 37 | 2 | 0.03161 | |
| 12:21617069 G / A (rs61926297) | 12 | 21617069 | PYROXD1 | n.493+1273G>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21617072 TT / _ (rs34682004) | 12 | 21617072 | PYROXD1 | n.493+1287_493+1288delTT | PASS | intron | 3 | 18 | 2404 | 9 | 0 | 0.007488 | |
| 12:21617144 A / _ (rs112852303) | 12 | 21617144 | PYROXD1 | n.493+1353delA | PASS | intron | 3 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21617144 A / G (rs7974260) | 12 | 21617144 | PYROXD1 | n.493+1348A>G | PASS | intron | 3 | 40 | 2404 | 20 | 0 | 0.01664 | |
| 12:21617145 A / G (rs200834623) | 12 | 21617145 | PYROXD1 | n.493+1349A>G | PASS | intron | 3 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21617659 _ / T (rs59314106) | 12 | 21617659 | PYROXD1 | n.493+1874dupT | PASS | intron | 3 | 12 | 2404 | 6 | 0 | 0.004992 | |
| 12:21617669 _ / TA (rs66524450) | 12 | 21617669 | PYROXD1 | n.493+1873_493+1874insAT | PASS | intron | 3 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21617677 A / G (rs115015375) | 12 | 21617677 | PYROXD1 | n.493+1881A>G | PASS | intron | 3 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21617713 A / G (rs10841822) | 12 | 21617713 | PYROXD1 | n.493+1917A>G | PASS | intron | 3 | 64 | 2404 | 32 | 0 | 0.02662 | |
| 12:21617738 C / T (rs12818516) | 12 | 21617738 | PYROXD1 | n.493+1942C>T | PASS | intron | 3 | 52 | 2404 | 26 | 0 | 0.02163 | |
| 12:21617741 T / G (rs10841823) | 12 | 21617741 | PYROXD1 | n.493+1945T>G | PASS | intron | 3 | 13 | 2404 | 6 | 1 | 0.005408 | |
| 12:21617772 G / A (rs113650217) | 12 | 21617772 | PYROXD1 | n.493+1976G>A | PASS | intron | 3 | 20 | 2404 | 9 | 2 | 0.008319 | |
| 12:21618452 T / G (rs76336375) | 12 | 21618452 | PYROXD1 | n.494-1963T>G | PASS | intron | 4 | 16 | 2404 | 8 | 0 | 0.006656 | |
| 12:21618510 G / A (rs10841824) | 12 | 21618510 | PYROXD1 | n.494-1905G>A | PASS | intron | 4 | 44 | 2404 | 22 | 0 | 0.01830 | |
| 12:21618513 C / T (rs10841825) | 12 | 21618513 | PYROXD1 | n.494-1902C>T | PASS | intron | 4 | 30 | 2404 | 15 | 0 | 0.01248 | |
| 12:21618628 A / G (rs9668302) | 12 | 21618628 | PYROXD1 | n.494-1787A>G | PASS | intron | 4 | 8 | 2404 | 4 | 0 | 0.003328 | |
| 12:21618628 A / T (rs9668302) | 12 | 21618628 | PYROXD1 | n.494-1787A>T | PASS | intron | 4 | 24 | 2404 | 12 | 0 | 0.009983 | |
| 12:21619265 C / A (rs9669340) | 12 | 21619265 | PYROXD1 | n.494-1150C>A | PASS | intron | 4 | 8 | 2404 | 4 | 0 | 0.003328 | |
| 12:21619290 G / C (rs556687170) | 12 | 21619290 | PYROXD1 | n.494-1125G>C | PASS | intron | 4 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21619344 T / C (rs28886017) | 12 | 21619344 | PYROXD1 | n.494-1071T>C | PASS | intron | 4 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21619408 G / A (rs9669356) | 12 | 21619408 | PYROXD1 | n.494-1007G>A | PASS | intron | 4 | 26 | 2404 | 13 | 0 | 0.01082 | |
| 12:21619452 A / G (rs12228018) | 12 | 21619452 | PYROXD1 | n.494-963A>G | PASS | intron | 4 | 54 | 2404 | 26 | 2 | 0.02246 | |
| 12:21619631 A / C (rs12831608) | 12 | 21619631 | PYROXD1 | n.494-784A>C | PASS | intron | 4 | 40 | 2404 | 20 | 0 | 0.01664 | |
| 12:21619776 _ / TAAT | 12 | 21619776 | PYROXD1 | n.494-639_494-638insAATT | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21619778 A / T | 12 | 21619778 | PYROXD1 | n.494-637A>T | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21620317 T / A | 12 | 21620317 | PYROXD1 | n.494-98T>A | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21620318 C / A | 12 | 21620318 | PYROXD1 | n.494-97C>A | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21620456 A / C (rs139684530) | 12 | 21620456 | PYROXD1 | n.535A>C | PASS | non coding exon | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21620487 G / T | 12 | 21620487 | PYROXD1 | n.566G>T | PASS | non coding exon | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21620488 A / T (rs201868292) | 12 | 21620488 | PYROXD1 | n.567A>T | PASS | non coding exon | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21620493 A / G (rs768176125) | 12 | 21620493 | PYROXD1 | n.572A>G | PASS | non coding exon | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21620714 A / _ | 12 | 21620714 | PYROXD1 | n.329+162delA | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21620896 T / G (rs73067241) | 12 | 21620896 | PYROXD1 | n.329+344T>G | PASS | intron | 1 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21620952 _ / T (rs34425665) | 12 | 21620952 | PYROXD1 | n.329+410dupT | PASS | intron | 1 | 26 | 2404 | 13 | 0 | 0.01082 | |
| 12:21621244 GT / _ (rs1565557185) | 12 | 21621244 | PYROXD1 | n.330-191_330-190delTG | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21621264 T / C (rs147724280) | 12 | 21621264 | PYROXD1 | n.330-176T>C | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21621281 G / A | 12 | 21621281 | PYROXD1 | n.330-159G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21621365 C / T (rs116232125) | 12 | 21621365 | PYROXD1 | n.330-75C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21621419 C / A (rs11046075) | 12 | 21621419 | PYROXD1 | n.330-21C>A | PASS | intron | 2 | 295 | 2404 | 21 | 253 | 0.1227 | |
| 12:21621437 T / C (rs142612258) | 12 | 21621437 | PYROXD1 | n.330-3T>C | PASS | splice region | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21621603 A / G (rs199852910) | 12 | 21621603 | PYROXD1 | n.493A>G | PASS | non coding exon | 2 | 3 | 2404 | 0 | 3 | 0.001248 | |
| 12:21621636 A / T (rs760158592) | 12 | 21621636 | PYROXD1 | n.526A>T | PASS | non coding exon | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21621669 T / C (rs370018142) | 12 | 21621669 | PYROXD1 | n.559T>C | PASS | non coding exon | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21621737 A / G (rs12422251) | 12 | 21621737 | PYROXD1 | n.627A>G | PASS | non coding exon | 2 | 625 | 2404 | 177 | 271 | 0.2600 | |
| 12:21621817 A / C (rs10841827) | 12 | 21621817 | PYROXD1 | c.*129A>C | PASS | 3' UTR | 12 | 177 | 2404 | 68 | 41 | 0.07363 |