PMID: 27380242

Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry.

Human genetics
F Qian, Y Feng, Y Zheng, TO Ogundiran, O Ojengbede, W Zheng, W Blot, CB Ambrosone, EM John, L Bernstein, JJ Hu, RG Ziegler, S Nyante, EV Bandera, SA Ingles, MF Press, KL Nathanson, A Hennis, B Nemesure, S Ambs, LN Kolonel, OI Olopade, CA Haiman, D Huo
2016-10

1771 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-152411985-C-T ESR1 c.1370-3535C>T - IntronicSNV - 6/7
21-46564075-G-A ADARB1 c.-48+15587G>A - intron_variant - 2/11
20-21300667-T-G XRN2 c.76-6250T>G - IntronicSNV - 1/29
6-152301300-C-T ESR1 c.1097-31491C>T - IntronicSNV - 4/7
6-152345025-C-T ESR1 c.1235+12096C>T - IntronicSNV - 5/7
15-67047870-G-A SMAD6 c.953-25465G>A - IntronicSNV - 3/3
20-21342378-T-C XRN2 c.2256-3681T>C - IntronicSNV - 24/29
18-45417793-T-C SMAD2 c.236+5099A>G - IntronicSNV - 2/10
6-43508165-G-T XPO5 c.2342+6143C>A - IntronicSNV - 20/31
21-46554335-C-T ADARB1 c.-48+5847C>T - intron_variant - 2/11
8-141545130-G-A AGO2 c.2271+437C>T - IntronicSNV - 17/18
1-112300921-C-G DDX20 c.397-1101C>G - IntronicSNV - 2/10
1-38008971-T-A SNIP1 c.328-2615A>T - IntronicSNV - 2/3
15-67477271-G-C SMAD3 c.1009+69G>C - IntronicSNV - 7/8
6-152310007-C-T ESR1 c.1097-22784C>T - IntronicSNV - 4/7
19-6413982-C-G KHSRP c.*141G>C - 3-UTRSNV 20/20 -
20-21352500-G-A XRN2 c.2584+3272G>A - IntronicSNV - 27/29
20-21344418-T-G XRN2 c.2256-1641T>G - IntronicSNV - 24/29
18-45364634-T-G SMAD2 c.*3564A>C - 3-UTRSNV 11/11 -
21-46566052-C-A ADARB1 c.-48+17564C>A - intron_variant - 2/11
5-31528627-T-C DROSHA c.20+520A>G - IntronicSNV - 3/34
12-54672890-C-T CBX5 c.-43+902G>A - intron_variant - 1/4
3-32870157-A-T TRIM71 c.852+9733A>T - IntronicSNV - 1/3
19-6413982-C-A KHSRP c.*141G>T - 3-UTRSNV 20/20 -
8-141609002-G-A AGO2 c.23-13592C>T - IntronicSNV - 1/18
1-112298829-T-C DDX20 c.283T>C p.Leu95Leu Synonymous 1/11 -
15-67025884-G-A SMAD6 c.952+17048G>A - IntronicSNV - 3/3
22-20093522-C-T DGCR8 c.1690-178C>T - IntronicSNV - 8/12
6-43490540-G-A XPO5 c.*1066C>T - 3-UTRSNV 32/32 -
6-43490540-G-C XPO5 c.*1066C>G - 3-UTRSNV 32/32 -
8-141548756-G-C AGO2 c.2169+663C>G - IntronicSNV - 16/18
8-141548756-G-A AGO2 c.2169+663C>T - IntronicSNV - 16/18
3-32926160-G-C TRIM71 c.1021-1266G>C - IntronicSNV - 2/3
6-152255699-C-G ESR1 c.761-9609C>G - IntronicSNV - 3/7
3-32894094-T-C TRIM71 c.853-21216T>C - IntronicSNV - 1/3
19-6413982-C-T KHSRP c.*141G>A - 3-UTRSNV 20/20 -
20-21308118-G-A XRN2 c.315+879G>A - IntronicSNV - 3/29
18-45433668-T-A SMAD2 c.1-10541A>T - IntronicSNV - 1/10
15-67070612-G-A SMAD6 c.953-2723G>A - IntronicSNV - 3/3
15-67070612-G-C SMAD6 c.953-2723G>C - IntronicSNV - 3/3
4-146473995-A-G SMAD1 c.998-941A>G - IntronicSNV - 5/6
14-95591629-C-T DICER1 c.904-624G>A - IntronicSNV - 9/28
6-43537834-G-C XPO5 c.621+405C>G - IntronicSNV - 5/31
3-32884554-C-G TRIM71 c.852+24130C>G - IntronicSNV - 1/3
15-67451410-A-C SMAD3 c.207-5823A>C - IntronicSNV - 1/8
15-67451410-A-G SMAD3 c.207-5823A>G - IntronicSNV - 1/8
20-21294758-C-T XRN2 c.75+10647C>T - IntronicSNV - 1/29
5-31484438-G-C DROSHA c.1996+550C>G - IntronicSNV - 14/34
5-31484438-G-A DROSHA c.1996+550C>T - IntronicSNV - 14/34
5-31533952-T-A C5orf22 c.82-427T>A - IntronicSNV - 1/8
12-1021515-T-G RAD52 c.*1042A>C - 3-UTRSNV 12/12 -
5-31533952-T-C C5orf22 c.82-427T>C - IntronicSNV - 1/8
20-21323810-G-A XRN2 c.1411-918G>A - IntronicSNV - 15/29
15-67423539-G-A SMAD3 c.207-33694G>A - IntronicSNV - 1/8
5-31518651-G-C DROSHA c.947+2579C>G - IntronicSNV - 5/34
1-226570137-T-C PARP1 c.1159+600A>G - IntronicSNV - 8/22
6-43503202-C-T XPO5 c.2343-1458G>A - IntronicSNV - 20/31
9-119462828-C-T TRIM32 c.*845C>T - 3-UTRSNV 2/2 -
18-45403483-T-C SMAD2 c.237-6548A>G - IntronicSNV - 2/10
15-67049456-C-T SMAD6 c.953-23879C>T - IntronicSNV - 3/3
18-46451220-C-T SMAD7 c.743-2940G>A - IntronicSNV - 3/3
6-152287083-C-T ESR1 c.1096+21440C>T - IntronicSNV - 4/7
6-152280151-G-T ESR1 c.1096+14508G>T - IntronicSNV - 4/7
20-21332347-C-A XRN2 c.1936+2248C>A - IntronicSNV - 20/29
14-95585553-T-A DICER1 c.1377-1462A>T - IntronicSNV - 10/28
5-31433789-C-A DROSHA c.3043-2004G>T - IntronicSNV - 24/34
1-154561661-C-G ADAR c.2762+184G>C - IntronicSNV - 9/14
1-53400625-C-T SCP2 c.70-6843C>T - IntronicSNV - 1/15
18-45377166-T-A SMAD2 c.784+479A>T - IntronicSNV - 7/10
18-45377166-T-C SMAD2 c.784+479A>G - IntronicSNV - 7/10
8-141593465-C-A AGO2 c.215+1753G>T - IntronicSNV - 2/18
8-141593465-C-T AGO2 c.215+1753G>A - IntronicSNV - 2/18
2-103048780-C-T IL18RAP c.580-4892C>T - IntronicSNV - 5/11
1-38019747-C-T SNIP1 c.84G>A p.Val28Val Synonymous 1/4 -
18-48589718-T-C SMAD4 c.956-2075T>C - IntronicSNV - 8/11
6-152276530-T-C ESR1 c.1096+10887T>C - IntronicSNV - 4/7
X-147027736-C-G FMR1 c.1737+600C>G - IntronicSNV - 16/16
21-46560008-G-A ADARB1 c.-48+11520G>A - intron_variant - 2/11
12-1021931-G-A RAD52 c.*626C>T - 3-UTRSNV 12/12 -
15-67035859-G-T SMAD6 c.952+27023G>T - IntronicSNV - 3/3
15-67035859-G-C SMAD6 c.952+27023G>C - IntronicSNV - 3/3
15-67439330-C-T SMAD3 c.207-17903C>T - IntronicSNV - 1/8
4-146438883-A-G SMAD1 c.400+2718A>G - IntronicSNV - 2/6
12-1030727-G-A RAD52 c.543+3889C>T - IntronicSNV - 7/11
5-31526779-C-G DROSHA c.261G>C p.Pro87Pro Synonymous 4/35 -
18-46453126-C-T SMAD7 c.743-4846G>A - IntronicSNV - 3/3
5-31526779-C-T DROSHA c.261G>A p.Pro87Pro Synonymous 4/35 -
15-67485156-C-T SMAD3 c.*2282C>T - 3-UTRSNV 9/9 -
20-21289279-A-G XRN2 c.75+5168A>G - IntronicSNV - 1/29
18-45449706-G-C SMAD2 c.-54+7026C>G - intron_variant - 1/10
6-152137648-A-G ESR1 c.452+8149A>G - IntronicSNV - 1/7
15-67060126-C-T SMAD6 c.953-13209C>T - IntronicSNV - 3/3
19-10776014-A-C ILF3 c.1-5268A>C - IntronicSNV - 1/17
6-152180151-A-G ESR1 c.643+16229A>G - IntronicSNV - 2/7
X-147017323-G-A FMR1 c.881-700G>A - IntronicSNV - 9/16
19-6415176-C-T KHSRP c.2103G>A p.Pro701Pro Synonymous 19/20 -
20-21285887-A-C XRN2 c.75+1776A>C - IntronicSNV - 1/29
6-43506881-C-T XPO5 c.2343-5137G>A - IntronicSNV - 20/31
12-54675320-C-T HNRNPA1 c.132+34C>T - IntronicSNV - 2/10
15-67074170-C-T SMAD6 c.*297C>T - 3-UTRSNV 4/4 -
18-45417363-T-C SMAD2 c.236+5529A>G - IntronicSNV - 2/10
18-46462841-G-A SMAD7 c.742+6010C>T - IntronicSNV - 3/3
22-20098544-G-A DGCR8 c.*913G>A - 3-UTRSNV 13/13 -
6-43522901-A-G XPO5 c.1441+672T>C - IntronicSNV - 13/31
18-45382605-A-T SMAD2 c.731-4907T>A - IntronicSNV - 6/10
18-45382605-A-C SMAD2 c.731-4907T>G - IntronicSNV - 6/10
8-141617612-T-C AGO2 c.23-22202A>G - IntronicSNV - 1/18
5-31460601-G-A DROSHA c.2574+3742C>T - IntronicSNV - 19/34
18-45444706-A-T SMAD2 c.-54+12026T>A - intron_variant - 1/10
20-21355846-A-T XRN2 c.2584+6618A>T - IntronicSNV - 27/29
15-67036455-C-T SMAD6 c.952+27619C>T - IntronicSNV - 3/3
3-32864431-A-T TRIM71 c.852+4007A>T - IntronicSNV - 1/3
8-24811322-A-G NEFL c.1170-13T>C - IntronicSNV - 2/4
3-32900245-T-G TRIM71 c.853-15065T>G - IntronicSNV - 1/3
3-32900245-T-C TRIM71 c.853-15065T>C - IntronicSNV - 1/3
12-130852944-A-G PIWIL1 c.2321+1141A>G - IntronicSNV - 19/19
17-56079077-C-T SRSF1 c.*3690G>A - 3-UTRSNV 4/4 -
8-141571975-C-T AGO2 c.518+577G>A - IntronicSNV - 4/18
6-43508715-T-C XPO5 c.2342+5593A>G - IntronicSNV - 20/31
18-45450835-T-C SMAD2 c.-54+5897A>G - intron_variant - 1/10
15-67371929-G-A SMAD3 c.206+13231G>A - IntronicSNV - 1/8
15-67022292-T-C SMAD6 c.952+13456T>C - IntronicSNV - 3/3
18-45401679-G-A SMAD2 c.237-4744C>T - IntronicSNV - 2/10
5-31523943-T-G DROSHA c.854+2243A>C - IntronicSNV - 4/34
5-31523943-T-A DROSHA c.854+2243A>T - IntronicSNV - 4/34
15-67447452-C-T SMAD3 c.207-9781C>T - IntronicSNV - 1/8
8-141613834-G-A AGO2 c.23-18424C>T - IntronicSNV - 1/18
8-41128620-C-T SFRP1 c.623-5612G>A - IntronicSNV - 2/2
8-141641511-T-C AGO2 c.22+4073A>G - IntronicSNV - 1/18
12-7942456-T-G NANOG c.151+95T>G - IntronicSNV - 1/3
4-146423381-G-C SMAD1 c.1-12385G>C - IntronicSNV - 1/6
7-24944420-A-G OSBPL3 c.1-12329T>C - IntronicSNV - 1/22
18-45442676-C-A SMAD2 c.-54+14056G>T - intron_variant - 1/10
6-152392598-G-C ESR1 c.1369+10339G>C - IntronicSNV - 6/7
6-152186960-C-T ESR1 c.644-14830C>T - IntronicSNV - 2/7
20-21333211-C-A XRN2 c.1937-2216C>A - IntronicSNV - 20/29
20-21333211-C-T XRN2 c.1937-2216C>T - IntronicSNV - 20/29
3-32890490-A-G TRIM71 c.853-24820A>G - IntronicSNV - 1/3
12-1043521-T-C RAD52 c.1-1297A>G - IntronicSNV - 1/11
6-43507091-C-T XPO5 c.2343-5347G>A - IntronicSNV - 20/31
14-95585553-T-C DICER1 c.1377-1462A>G - IntronicSNV - 10/28
12-1043521-T-A RAD52 c.1-1297A>T - IntronicSNV - 1/11
X-147013704-A-G FMR1 c.631-240A>G - IntronicSNV - 7/16
6-152153964-T-C ESR1 c.453-9768T>C - IntronicSNV - 1/7
20-21349612-C-A XRN2 c.2584+384C>A - IntronicSNV - 27/29
5-31510755-G-C DROSHA c.1432+387C>G - IntronicSNV - 8/34
5-31517449-T-A DROSHA c.948-1778A>T - IntronicSNV - 5/34
7-100479167-C-A SRRT c.251-113C>A - intron_variant - 3/19
14-95586136-T-C DICER1 c.1377-2045A>G - IntronicSNV - 10/28
18-45448432-T-A SMAD2 c.-54+8300A>T - intron_variant - 1/10
22-20071737-T-C DGCR8 c.1-1750T>C - IntronicSNV - 1/12
5-31484466-C-T DROSHA c.1996+522G>A - IntronicSNV - 14/34
6-152133617-C-A ESR1 c.452+4118C>A - IntronicSNV - 1/7
5-31509150-G-A DROSHA c.1433-268C>T - IntronicSNV - 8/34
22-20087473-T-A DGCR8 c.1689+5155T>A - IntronicSNV - 8/12
21-46642827-C-T ADARB1 c.*715C>T - 3-UTRSNV 12/12 -
18-46459264-C-G SMAD7 c.742+9587G>C - IntronicSNV - 3/3
18-46459264-C-T SMAD7 c.742+9587G>A - IntronicSNV - 3/3
8-141595041-A-T AGO2 c.215+177T>A - IntronicSNV - 2/18
3-32863574-C-T TRIM71 c.852+3150C>T - IntronicSNV - 1/3
15-67423959-T-C SMAD3 c.207-33274T>C - IntronicSNV - 1/8
18-6374394-A-G L3MBTL4 c.-91+40406T>C - intron_variant - 1/19
20-21317848-A-G XRN2 c.1234-1834A>G - IntronicSNV - 13/29
2-239990549-T-C HDAC4 c.2736-246A>G - IntronicSNV - 22/26
6-43491915-C-T XPO5 c.3478-172G>A - IntronicSNV - 31/31
22-20093288-C-T DGCR8 c.1690-412C>T - IntronicSNV - 8/12
8-141616659-C-G AGO2 c.23-21249G>C - IntronicSNV - 1/18
5-31505968-G-A DROSHA c.1588-1226C>T - IntronicSNV - 9/34
4-146461534-C-T SMAD1 c.658+321C>T - IntronicSNV - 3/6
5-31505968-G-T DROSHA c.1588-1226C>A - IntronicSNV - 9/34
18-45363729-C-T SMAD2 c.*4469G>A - 3-UTRSNV 11/11 -
18-45368587-G-A SMAD2 c.1281-266C>T - IntronicSNV - 10/10
12-54675319-G-A HNRNPA1 c.132+33G>A - IntronicSNV - 2/10
19-10774611-C-T ILF3 c.1-6671C>T - IntronicSNV - 1/17
1-154559842-T-C ADAR c.3019+759A>G - IntronicSNV - 11/14
15-67052823-C-T SMAD6 c.953-20512C>T - IntronicSNV - 3/3
15-67384876-T-C SMAD3 c.206+26178T>C - IntronicSNV - 1/8
18-45426603-C-A SMAD2 c.1-3476G>T - IntronicSNV - 1/10
6-152302247-A-T ESR1 c.1097-30544A>T - IntronicSNV - 4/7
18-45430245-T-G SMAD2 c.1-7118A>C - IntronicSNV - 1/10
15-67402528-C-T SMAD3 c.206+43830C>T - IntronicSNV - 1/8
14-95582544-A-C DICER1 c.1752+246T>G - IntronicSNV - 12/28
1-154555492-T-C ADAR c.*1790A>G - 3-UTRSNV 15/15 -
18-45363729-C-G SMAD2 c.*4469G>C - 3-UTRSNV 11/11 -
21-46575742-C-T ADARB1 c.1-15830C>T - IntronicSNV - 2/11
6-152152988-A-G ESR1 c.453-10744A>G - IntronicSNV - 1/7
8-141594881-T-C AGO2 c.215+337A>G - IntronicSNV - 2/18
4-146430293-T-G SMAD1 c.1-5473T>G - IntronicSNV - 1/6
14-95580386-T-A DICER1 c.1908-825A>T - IntronicSNV - 13/28
7-27941269-A-G JAZF1 c.189-6234T>C - IntronicSNV - 2/4
6-152306889-G-A ESR1 c.1097-25902G>A - IntronicSNV - 4/7
6-152178287-C-T ESR1 c.643+14365C>T - IntronicSNV - 2/7
6-43532853-T-G XPO5 c.911+544A>C - IntronicSNV - 8/31
12-130834554-T-C PIWIL1 c.1044+42T>C - IntronicSNV - 9/19
5-31459948-C-G DROSHA c.2574+4395G>C - IntronicSNV - 19/34
18-45369857-A-T SMAD2 c.1281-1536T>A - IntronicSNV - 10/10
18-45369857-A-G SMAD2 c.1281-1536T>C - IntronicSNV - 10/10
12-130826904-C-G PIWIL1 c.1-233C>G - IntronicSNV 1/20 -
8-141549412-A-G AGO2 c.2169+7T>C - IntronicSNV - 16/18
6-43502826-G-A XPO5 c.2343-1082C>T - IntronicSNV - 20/31
18-45362375-T-C SMAD2 c.*5823A>G - 3-UTRSNV 11/11 -
18-45380016-G-C SMAD2 c.731-2318C>G - IntronicSNV - 6/10
5-31449760-G-C DROSHA c.2683-234C>G - IntronicSNV - 20/34
3-32923331-G-A TRIM71 c.1021-4095G>A - IntronicSNV - 2/3
12-1021931-G-T RAD52 c.*626C>A - 3-UTRSNV 12/12 -
20-21301477-C-G XRN2 c.76-5440C>G - IntronicSNV - 1/29
5-31493879-T-C DROSHA c.1756-479A>G - IntronicSNV - 11/34
18-48602401-C-G SMAD4 c.1309-607C>G - IntronicSNV - 10/11
15-67035859-G-A SMAD6 c.952+27023G>A - IntronicSNV - 3/3
20-21301477-C-T XRN2 c.76-5440C>T - IntronicSNV - 1/29
9-119462572-G-A TRIM32 c.*589G>A - 3-UTRSNV 2/2 -
15-67417810-G-A SMAD3 c.207-39423G>A - IntronicSNV - 1/8
19-6422423-C-A KHSRP c.274G>T p.Ala92Ser Missense 2/20 -
15-67466599-A-G SMAD3 c.658+3657A>G - IntronicSNV - 5/8
12-81738584-C-T PPFIA2 c.2233-112G>A - IntronicSNV - 17/30
4-40504123-T-C RBM47 c.-155+13761A>G - intron_variant - 1/4
18-45443785-T-G SMAD2 c.-54+12947A>C - intron_variant - 1/10
18-46454951-T-G SMAD7 c.743-6671A>C - IntronicSNV - 3/3
6-152294287-C-G ESR1 c.1096+28644C>G - IntronicSNV - 4/7
18-45433164-T-C SMAD2 c.1-10037A>G - IntronicSNV - 1/10
3-128991036-C-T COPG1 c.1987-51C>T - IntronicSNV - 19/23
15-67049456-C-G SMAD6 c.953-23879C>G - IntronicSNV - 3/3
1-226548554-A-G PARP1 c.*607T>C - 3-UTRSNV 23/23 -
6-152227869-T-G ESR1 c.760+25963T>G - IntronicSNV - 3/7
20-21342550-T-G XRN2 c.2256-3509T>G - IntronicSNV - 24/29
6-43538832-T-A XPO5 c.301-101A>T - IntronicSNV - 3/31
6-43538832-T-C XPO5 c.301-101A>G - IntronicSNV - 3/31
20-21367741-A-G XRN2 c.2787+97A>G - IntronicSNV - 29/29
15-67483979-G-A SMAD3 c.*1105G>A - 3-UTRSNV 9/9 -
18-45392477-G-T SMAD2 c.656-973C>A - IntronicSNV - 5/10
18-45392477-G-C SMAD2 c.656-973C>G - IntronicSNV - 5/10
15-67457840-G-A SMAD3 c.532+118G>A - IntronicSNV - 3/8
6-152262259-G-A ESR1 c.761-3049G>A - IntronicSNV - 3/7
14-95568229-C-T DICER1 c.4050+1454G>A - IntronicSNV - 23/28
1-38015757-A-G SNIP1 c.327+2489T>C - IntronicSNV - 2/3
20-21304688-A-G XRN2 c.76-2229A>G - IntronicSNV - 1/29
6-152198825-T-A ESR1 c.644-2965T>A - IntronicSNV - 2/7
6-152332317-T-A ESR1 c.1097-474T>A - IntronicSNV - 4/7
6-43534654-T-G XPO5 c.834+252A>C - IntronicSNV - 7/31
6-152301300-C-A ESR1 c.1097-31491C>A - IntronicSNV - 4/7
6-152212212-G-T ESR1 c.760+10306G>T - IntronicSNV - 3/7
6-152212212-G-A ESR1 c.760+10306G>A - IntronicSNV - 3/7
X-147010158-A-G FMR1 c.271-19A>G - IntronicSNV - 4/16
21-46497536-C-T ADARB1 c.-220+2828C>T - intron_variant - 1/11
1-112303861-G-T DDX20 c.976G>T p.Ala326Ser Missense 7/11 -
6-152277035-T-A ESR1 c.1096+11392T>A - IntronicSNV - 4/7
18-45394206-T-G SMAD2 c.655+488A>C - IntronicSNV - 5/10
X-147003856-T-G FMR1 c.104+353T>G - IntronicSNV - 2/16
12-130844185-G-T PIWIL1 c.1666-1540G>T - IntronicSNV - 14/19
X-147003856-T-C FMR1 c.104+353T>C - IntronicSNV - 2/16
15-67011946-T-A SMAD6 c.952+3110T>A - IntronicSNV - 3/3
17-66420592-A-T WIPI1 c.1293+1624T>A - IntronicSNV - 12/12
15-67011946-T-C SMAD6 c.952+3110T>C - IntronicSNV - 3/3
18-48565937-C-T SMAD4 c.1-7480C>T - IntronicSNV - 1/11
18-45370750-A-T SMAD2 c.1280+961T>A - IntronicSNV - 10/10
18-45427205-A-C SMAD2 c.1-4078T>G - IntronicSNV - 1/10
6-152197152-C-A ESR1 c.644-4638C>A - IntronicSNV - 2/7
1-154564712-T-A ADAR c.2271-1827A>T - IntronicSNV - 6/14
8-141543322-A-G AGO2 c.2272-608T>C - IntronicSNV - 17/18
18-45421899-T-A SMAD2 c.236+993A>T - IntronicSNV - 2/10
18-45421899-T-C SMAD2 c.236+993A>G - IntronicSNV - 2/10
5-31470285-C-T DROSHA c.2241+1885G>A - IntronicSNV - 16/34
4-146477058-T-C SMAD1 c.1254+1866T>C - IntronicSNV - 6/6
14-95618898-T-C DICER1 c.-213+5370A>G - intron_variant - 1/28
4-146477058-T-A SMAD1 c.1254+1866T>A - IntronicSNV - 6/6
6-152400459-C-T ESR1 c.1370-15061C>T - IntronicSNV - 6/7
15-67428609-G-C SMAD3 c.207-28624G>C - IntronicSNV - 1/8
5-31448623-A-T DROSHA c.2882+31T>A - IntronicSNV - 22/34
21-46549463-A-G ADARB1 c.-48+975A>G - intron_variant - 2/11
20-21359361-T-G XRN2 c.2585-3271T>G - IntronicSNV - 27/29
6-152392561-C-A ESR1 c.1369+10302C>A - IntronicSNV - 6/7
8-19815256-A-T LPL c.1019-1515A>T - IntronicSNV - 6/9
18-45440644-G-A SMAD2 c.-54+16088C>T - intron_variant - 1/10
17-76162135-C-T C17orf99 c.*8C>T - 3-UTRSNV 5/5 -
6-152205955-G-C ESR1 c.760+4049G>C - IntronicSNV - 3/7
8-141634864-A-G AGO2 c.22+10720T>C - IntronicSNV - 1/18
6-152258255-A-T ESR1 c.761-7053A>T - IntronicSNV - 3/7
21-46502554-C-G ADARB1 c.-220+7846C>G - intron_variant - 1/11
12-1050036-T-C RAD52 c.1-7812A>G - IntronicSNV - 1/11
12-1050036-T-A RAD52 c.1-7812A>T - IntronicSNV - 1/11
4-146404246-G-C SMAD1 c.-177+1056G>C - intron_variant - 1/6
15-67464443-C-A SMAD3 c.658+1501C>A - IntronicSNV - 5/8
6-43515972-G-A XPO5 c.2060+26C>T - IntronicSNV - 18/31
1-154575321-G-A ADAR c.16-219C>T - IntronicSNV - 1/14
6-152172291-C-G ESR1 c.643+8369C>G - IntronicSNV - 2/7
4-146423398-A-T SMAD1 c.1-12368A>T - IntronicSNV - 1/6
4-146423398-A-G SMAD1 c.1-12368A>G - IntronicSNV - 1/6
17-62499312-T-C DDX5 c.804A>G p.Gln268Gln Synonymous 7/13 -
21-46516192-C-T ADARB1 c.-220+21484C>T - intron_variant - 1/11
22-20068086-G-C DGCR8 c.-278+180G>C - intron_variant - 1/12
6-43540530-G-A XPO5 c.228-215C>T - IntronicSNV - 2/31
5-31472550-T-C DROSHA c.2072-211A>G - IntronicSNV - 15/34
15-67068248-G-A SMAD6 c.953-5087G>A - IntronicSNV - 3/3
6-152236433-A-G ESR1 c.761-28875A>G - IntronicSNV - 3/7
X-147010320-G-A FMR1 c.414G>A p.Arg138Arg Synonymous 5/17 -
15-67404969-C-G SMAD3 c.206+46271C>G - IntronicSNV - 1/8
2-189997834-G-A COL5A2 c.98-22659C>T - IntronicSNV - 1/53
21-46504505-G-C ADARB1 c.-220+9797G>C - intron_variant - 1/11
14-55344901-C-T GCH1 c.344-12747G>A - IntronicSNV - 1/5
8-141549333-G-A AGO2 c.2169+86C>T - IntronicSNV - 16/18
18-45380449-T-A SMAD2 c.731-2751A>T - IntronicSNV - 6/10
4-146465654-A-T SMAD1 c.775+1804A>T - IntronicSNV - 4/6
18-45414570-A-G SMAD2 c.236+8322T>C - IntronicSNV - 2/10
15-67465638-C-T SMAD3 c.658+2696C>T - IntronicSNV - 5/8
6-43505541-C-A XPO5 c.2343-3797G>T - IntronicSNV - 20/31
1-153639235-G-A ILF2 c.394+796C>T - IntronicSNV - 6/13
18-45434036-G-A SMAD2 c.1-10909C>T - IntronicSNV - 1/10
21-46562012-C-T ADARB1 c.-48+13524C>T - intron_variant - 2/11
6-43526887-A-G XPO5 c.1222-559T>C - IntronicSNV - 11/31
6-152260719-C-T ESR1 c.761-4589C>T - IntronicSNV - 3/7
12-1055081-C-T RAD52 c.-19+3687G>A - intron_variant - 1/11
1-38014722-C-T SNIP1 c.327+3524G>A - IntronicSNV - 2/3
1-154577515-C-T ADAR c.16-2413G>A - IntronicSNV - 1/14
1-26738226-T-C LIN28A c.228+153T>C - IntronicSNV - 2/3
6-152330309-C-A ESR1 c.1097-2482C>A - IntronicSNV - 4/7
15-67022292-T-G SMAD6 c.952+13456T>G - IntronicSNV - 3/3
6-152339458-T-A ESR1 c.1235+6529T>A - IntronicSNV - 5/7
18-45377882-G-T SMAD2 c.731-184C>A - IntronicSNV - 6/10
3-32913080-C-T TRIM71 c.853-2230C>T - IntronicSNV - 1/3
3-32913080-C-G TRIM71 c.853-2230C>G - IntronicSNV - 1/3
18-45377882-G-A SMAD2 c.731-184C>T - IntronicSNV - 6/10
18-45377882-G-C SMAD2 c.731-184C>G - IntronicSNV - 6/10
5-31424799-G-C DROSHA c.3217-221C>G - IntronicSNV - 26/34
12-1021382-C-T RAD52 c.*1175G>A - 3-UTRSNV 12/12 -
7-24966846-A-G OSBPL3 c.1-34755T>C - IntronicSNV - 1/22
18-46467492-G-C SMAD7 c.742+1359C>G - IntronicSNV - 3/3
19-40875810-C-T PLD3 c.430-5C>T - IntronicSNV - 6/12
19-40875810-C-G PLD3 c.430-5C>G - IntronicSNV - 6/12
12-1044758-G-C RAD52 c.1-2534C>G - IntronicSNV - 1/11
8-141557760-G-A AGO2 c.1589-34C>T - IntronicSNV - 12/18
14-95565497-G-A DICER1 c.4206+620C>T - IntronicSNV - 24/28
20-21331541-T-G XRN2 c.1936+1442T>G - IntronicSNV - 20/29
19-10794413-A-G ILF3 c.1965A>G p.Arg655Arg Synonymous 16/18 -
6-43543113-T-G XPO5 c.105+384A>C - IntronicSNV - 1/31
6-43543113-T-C XPO5 c.105+384A>G - IntronicSNV - 1/31
8-141594460-T-C AGO2 c.215+758A>G - IntronicSNV - 2/18
5-31444429-C-G DROSHA c.2882+4225G>C - IntronicSNV - 22/34
16-4721353-A-G MGRN1 c.727-39A>G - IntronicSNV - 8/15
6-43513265-G-A XPO5 c.2342+1043C>T - IntronicSNV - 20/31
15-67472683-G-C SMAD3 c.659-896G>C - IntronicSNV - 5/8
15-67384876-T-G SMAD3 c.206+26178T>G - IntronicSNV - 1/8
15-67472683-G-T SMAD3 c.659-896G>T - IntronicSNV - 5/8
18-46462952-T-C SMAD7 c.742+5899A>G - IntronicSNV - 3/3
11-34963416-T-C PDHX c.242-5637T>C - IntronicSNV - 2/10
14-95568593-C-T DICER1 c.4050+1090G>A - IntronicSNV - 23/28
6-152296585-G-A ESR1 c.1096+30942G>A - IntronicSNV - 4/7
6-152246467-C-T ESR1 c.761-18841C>T - IntronicSNV - 3/7
3-32898414-C-T TRIM71 c.853-16896C>T - IntronicSNV - 1/3
3-32919070-C-T TRIM71 c.1020+3593C>T - IntronicSNV - 2/3
3-32920604-C-G TRIM71 c.1020+5127C>G - IntronicSNV - 2/3
14-95576298-T-C DICER1 c.2256+1356A>G - IntronicSNV - 16/28
6-43537199-G-A XPO5 c.622-725C>T - IntronicSNV - 5/31
18-46449632-A-G SMAD7 c.743-1352T>C - IntronicSNV - 3/3
1-154570660-C-A ADAR c.1786-208G>T - IntronicSNV - 3/14
20-21308812-G-A XRN2 c.316-385G>A - IntronicSNV - 3/29
20-21308812-G-C XRN2 c.316-385G>C - IntronicSNV - 3/29
21-46599024-G-A ADARB1 c.964-1221G>A - IntronicSNV - 4/11
20-21346604-T-A XRN2 c.2456+262T>A - IntronicSNV - 26/29
5-31510758-C-T DROSHA c.1432+384G>A - IntronicSNV - 8/34
6-43529756-C-T XPO5 c.1011+228G>A - IntronicSNV - 9/31
5-31510758-C-G DROSHA c.1432+384G>C - IntronicSNV - 8/34
18-45435202-C-G SMAD2 c.1-12075G>C - IntronicSNV - 1/10
14-95592100-G-A DICER1 c.903+817C>T - IntronicSNV - 9/28
1-154579634-C-A ADAR c.15+834G>T - IntronicSNV - 1/14
14-95574310-T-C DICER1 c.2557A>G p.Ile853Val Missense 18/29 -
15-67047661-G-A SMAD6 c.953-25674G>A - IntronicSNV - 3/3
5-31471647-A-T DROSHA c.2241+523T>A - IntronicSNV - 16/34
6-152242715-T-C ESR1 c.761-22593T>C - IntronicSNV - 3/7
6-43500471-G-C XPO5 c.2444-1158C>G - IntronicSNV - 21/31
6-43500471-G-A XPO5 c.2444-1158C>T - IntronicSNV - 21/31
15-67481248-C-T SMAD3 c.1154+1401C>T - IntronicSNV - 8/8
18-45425656-C-A SMAD2 c.1-2529G>T - IntronicSNV - 1/10
12-94965058-G-A TMCC3 c.*153C>T - 3-UTRSNV 4/4 -
X-147017292-T-C FMR1 c.881-731T>C - IntronicSNV - 9/16
12-94965058-G-T TMCC3 c.*153C>A - 3-UTRSNV 4/4 -
19-40875810-C-A PLD3 c.430-5C>A - IntronicSNV - 6/12
15-67052108-C-G SMAD6 c.953-21227C>G - IntronicSNV - 3/3
15-67052108-C-T SMAD6 c.953-21227C>T - IntronicSNV - 3/3
18-45425478-C-A SMAD2 c.1-2351G>T - IntronicSNV - 1/10
6-43541849-G-A XPO5 c.106-511C>T - IntronicSNV - 1/31
1-10287824-C-T KIF1B c.1-4563C>T - IntronicSNV - 1/46
15-67049210-G-A SMAD6 c.953-24125G>A - IntronicSNV - 3/3
4-146476621-G-A SMAD1 c.1254+1429G>A - IntronicSNV - 6/6
X-147028243-T-C FMR1 c.1737+1107T>C - IntronicSNV - 16/16
6-43497751-G-C XPO5 c.2677+675C>G - IntronicSNV - 23/31
20-21295988-C-T XRN2 c.76-10929C>T - IntronicSNV - 1/29
15-67477516-C-T SMAD3 c.1009+314C>T - IntronicSNV - 7/8
20-21288794-T-A XRN2 c.75+4683T>A - IntronicSNV - 1/29
18-45379349-C-T SMAD2 c.731-1651G>A - IntronicSNV - 6/10
19-10766798-A-C ILF3 c.-91+1635A>C - intron_variant - 1/17
19-10766798-A-T ILF3 c.-91+1635A>T - intron_variant - 1/17
5-31406980-T-C DROSHA c.3927A>G p.Ile1309Met Missense 33/35 -
5-31406980-T-G DROSHA c.3927A>C p.Ile1309Ile Synonymous 33/35 -
19-10780130-G-A ILF3 c.1-1152G>A - IntronicSNV - 1/17
19-10780130-G-C ILF3 c.1-1152G>C - IntronicSNV - 1/17
4-102251501-T-C PPP3CA c.58+16395A>G - IntronicSNV - 1/13
12-1043143-C-T RAD52 c.1-919G>A - IntronicSNV - 1/11
6-152232018-C-T ESR1 c.760+30112C>T - IntronicSNV - 3/7
22-20085721-T-C DGCR8 c.1689+3403T>C - IntronicSNV - 8/12
1-154570903-T-C ADAR c.1760A>G p.Tyr587Cys Missense 3/15 -
1-38014838-A-G SNIP1 c.327+3408T>C - IntronicSNV - 2/3
6-43508876-T-G XPO5 c.2342+5432A>C - IntronicSNV - 20/31
8-141605933-C-T AGO2 c.23-10523G>A - IntronicSNV - 1/18
15-67393803-A-T SMAD3 c.206+35105A>T - IntronicSNV - 1/8
6-152145986-G-T ESR1 c.452+16487G>T - IntronicSNV - 1/7
1-26747233-C-A LIN28A c.229-4561C>A - IntronicSNV - 2/3
15-67371324-T-A SMAD3 c.206+12626T>A - IntronicSNV - 1/8
6-152132431-G-A ESR1 c.452+2932G>A - IntronicSNV - 1/7
12-130824283-C-G PIWIL1 c.-13+1592C>G - intron_variant - 1/19
12-94965058-G-C TMCC3 c.*153C>G - 3-UTRSNV 4/4 -
15-67392656-G-A SMAD3 c.206+33958G>A - IntronicSNV - 1/8
18-45425656-C-T SMAD2 c.1-2529G>A - IntronicSNV - 1/10
4-146467426-A-T SMAD1 c.776-429A>T - IntronicSNV - 4/6
18-45417160-A-G SMAD2 c.236+5732T>C - IntronicSNV - 2/10
4-146422102-A-G SMAD1 c.1-13664A>G - IntronicSNV - 1/6
12-130854715-G-T PIWIL1 c.2322-1006G>T - IntronicSNV - 19/19
12-130854715-G-C PIWIL1 c.2322-1006G>C - IntronicSNV - 19/19
6-43512034-T-G XPO5 c.2342+2274A>C - IntronicSNV - 20/31
6-43512034-T-C XPO5 c.2342+2274A>G - IntronicSNV - 20/31
4-146467426-A-G SMAD1 c.776-429A>G - IntronicSNV - 4/6
4-146431101-G-T SMAD1 c.1-4665G>T - IntronicSNV - 1/6
15-67484297-C-T SMAD3 c.*1423C>T - 3-UTRSNV 9/9 -
17-28444183-A-C NSRP1 c.20+302A>C - IntronicSNV - 1/6
18-45379545-A-C SMAD2 c.731-1847T>G - IntronicSNV - 6/10
17-28444183-A-T NSRP1 c.20+302A>T - IntronicSNV - 1/6
9-119448107-T-G ASTN2 c.2654-34035A>C - IntronicSNV - 15/21
6-152359964-C-T ESR1 c.1236-22162C>T - IntronicSNV - 5/7
20-21361900-T-A XRN2 c.2585-732T>A - IntronicSNV - 27/29
15-67402824-T-C SMAD3 c.206+44126T>C - IntronicSNV - 1/8
18-48586344-C-T SMAD4 c.955+58C>T - IntronicSNV - 8/11
7-100475020-G-T SRRT c.121+1687G>T - intron_variant - 2/19
6-152160654-T-C ESR1 c.453-3078T>C - IntronicSNV - 1/7
12-131359562-G-T RAN c.435+284G>T - IntronicSNV - 5/6
20-21300704-C-T XRN2 c.76-6213C>T - IntronicSNV - 1/29
19-10769263-C-T ILF3 c.-91+4100C>T - intron_variant - 1/17
6-152363092-G-A ESR1 c.1236-19034G>A - IntronicSNV - 5/7
20-21355846-A-G XRN2 c.2584+6618A>G - IntronicSNV - 27/29
1-154580458-C-A ADAR c.15+10G>T - IntronicSNV - 1/14
15-67465320-G-T SMAD3 c.658+2378G>T - IntronicSNV - 5/8
15-67465320-G-A SMAD3 c.658+2378G>A - IntronicSNV - 5/8
18-45379545-A-G SMAD2 c.731-1847T>C - IntronicSNV - 6/10
18-45421840-C-T SMAD2 c.236+1052G>A - IntronicSNV - 2/10
20-21312108-T-C XRN2 c.577-91T>C - IntronicSNV - 6/29
6-119390263-G-C FAM184A c.159+9043C>G - IntronicSNV - 1/17
19-6422306-C-T KHSRP c.346+45G>A - IntronicSNV - 2/19
18-45391360-T-C SMAD2 c.730+70A>G - IntronicSNV - 6/10
20-21349716-G-A XRN2 c.2584+488G>A - IntronicSNV - 27/29
18-45426635-C-T SMAD2 c.1-3508G>A - IntronicSNV - 1/10
18-45425478-C-G SMAD2 c.1-2351G>C - IntronicSNV - 1/10
3-32929486-G-A TRIM71 c.1155+1926G>A - IntronicSNV - 3/3
18-45442677-C-T SMAD2 c.-54+14055G>A - intron_variant - 1/10
3-32877425-T-G TRIM71 c.852+17001T>G - IntronicSNV - 1/3
6-43540844-A-G XPO5 c.227+373T>C - IntronicSNV - 2/31
7-100475020-G-A SRRT c.121+1687G>A - intron_variant - 2/19
17-62501267-T-C DDX5 c.45-307A>G - IntronicSNV - 1/12
19-10787744-C-G ILF3 c.412-95C>G - IntronicSNV - 4/17
21-46556555-G-A ADARB1 c.-48+8067G>A - intron_variant - 2/11
6-151918856-T-G CCDC170 c.1710+1144T>G - IntronicSNV - 9/10
6-151918856-T-C CCDC170 c.1710+1144T>C - IntronicSNV - 9/10
6-152276604-C-T ESR1 c.1096+10961C>T - IntronicSNV - 4/7
18-45414921-G-A SMAD2 c.236+7971C>T - IntronicSNV - 2/10
8-141566926-G-A AGO2 c.1026+262C>T - IntronicSNV - 8/18
15-67048582-T-A SMAD6 c.953-24753T>A - IntronicSNV - 3/3
5-31449869-G-C DROSHA c.2683-343C>G - IntronicSNV - 20/34
8-141572809-C-T AGO2 c.337-76G>A - IntronicSNV - 3/18
8-141620354-A-C AGO2 c.23-24944T>G - IntronicSNV - 1/18
6-152296241-G-A ESR1 c.1096+30598G>A - IntronicSNV - 4/7
18-45435990-C-T SMAD2 c.1-12863G>A - IntronicSNV - 1/10
X-147026039-C-T FMR1 c.1472-350C>T - IntronicSNV - 14/16
18-45435990-C-G SMAD2 c.1-12863G>C - IntronicSNV - 1/10
8-6479658-G-A MCPH1 c.2452+446G>A - IntronicSNV - 13/13
6-152152988-A-C ESR1 c.453-10744A>C - IntronicSNV - 1/7
18-45452321-G-A SMAD2 c.-54+4411C>T - intron_variant - 1/10
8-6479658-G-T MCPH1 c.2452+446G>T - IntronicSNV - 13/13
6-152402709-G-A ESR1 c.1370-12811G>A - IntronicSNV - 6/7
15-67049688-G-A SMAD6 c.953-23647G>A - IntronicSNV - 3/3
8-141576720-G-C AGO2 c.337-3987C>G - IntronicSNV - 3/18
11-116708413-C-T APOA1 c.-113G>A - 5_prime_UTR_variant 1/4 -
22-20089083-G-A DGCR8 c.1690-4617G>A - IntronicSNV - 8/12
20-21326098-T-C XRN2 c.1530-955T>C - IntronicSNV - 16/29
5-31514134-T-A DROSHA c.1290+961A>T - IntronicSNV - 7/34
18-45376802-T-C SMAD2 c.784+843A>G - IntronicSNV - 7/10
8-141576720-G-T AGO2 c.337-3987C>A - IntronicSNV - 3/18
20-21301696-C-T XRN2 c.76-5221C>T - IntronicSNV - 1/29
6-43490502-G-A XPO5 c.*1104C>T - 3-UTRSNV 32/32 -
19-10788196-C-T ILF3 c.559+210C>T - IntronicSNV - 5/17
20-21293029-G-A XRN2 c.75+8918G>A - IntronicSNV - 1/29
20-21293029-G-C XRN2 c.75+8918G>C - IntronicSNV - 1/29
6-152193824-C-T ESR1 c.644-7966C>T - IntronicSNV - 2/7
15-67059979-C-T SMAD6 c.953-13356C>T - IntronicSNV - 3/3
6-152379502-G-T ESR1 c.1236-2624G>T - IntronicSNV - 5/7
5-31511467-C-T DROSHA c.1291-184G>A - IntronicSNV - 7/34
12-130843964-T-A PIWIL1 c.1666-1761T>A - IntronicSNV - 14/19
6-152348124-G-A ESR1 c.1235+15195G>A - IntronicSNV - 5/7
3-32920380-C-G TRIM71 c.1020+4903C>G - IntronicSNV - 2/3
6-152348389-C-T ESR1 c.1235+15460C>T - IntronicSNV - 5/7
6-152348389-C-A ESR1 c.1235+15460C>A - IntronicSNV - 5/7
6-43503967-C-G XPO5 c.2343-2223G>C - IntronicSNV - 20/31
5-31509307-A-G DROSHA c.1433-425T>C - IntronicSNV - 8/34
12-130845506-A-G PIWIL1 c.1666-219A>G - IntronicSNV - 14/19
13-41384940-G-A SLC25A15 c.*1137G>A - 3-UTRSNV 7/7 -
3-32901300-C-A TRIM71 c.853-14010C>A - IntronicSNV - 1/3
17-649984-G-A GEMIN4 c.1299C>T p.Phe433Phe Synonymous 2/2 -
17-649232-C-T GEMIN4 c.2051G>A p.Arg684Gln Missense 2/2 -
20-21300030-G-A XRN2 c.76-6887G>A - IntronicSNV - 1/29
6-152417142-G-A ESR1 c.1553+1439G>A - IntronicSNV - 7/7
5-31514367-C-T DROSHA c.1290+728G>A - IntronicSNV - 7/34
5-31501631-A-C DROSHA c.1668+3031T>G - IntronicSNV - 10/34
6-152306894-C-T ESR1 c.1097-25897C>T - IntronicSNV - 4/7
5-31471809-C-T DROSHA c.2241+361G>A - IntronicSNV - 16/34
7-100802786-A-G AP1S1 c.429+309A>G - IntronicSNV - 4/4
6-43506592-C-T XPO5 c.2343-4848G>A - IntronicSNV - 20/31
5-31442717-T-C DROSHA c.2883-5312A>G - IntronicSNV - 22/34
21-46562167-G-A ADARB1 c.-48+13679G>A - intron_variant - 2/11
8-19816125-T-C LPL c.1019-646T>C - IntronicSNV - 6/9
17-58120456-A-G HEATR6 c.*468T>C - IntergenicSNV 20/20 -
8-141556582-C-T AGO2 c.1748+985G>A - IntronicSNV - 13/18
19-8376431-G-A NDUFA7 c.300C>T p.Pro100Pro Synonymous 4/4 -
19-8376431-G-C NDUFA7 c.300C>G p.Pro100Pro Synonymous 4/4 -
19-8376431-G-T NDUFA7 c.300C>A p.Pro100Pro Synonymous 4/4 -
18-46461959-T-C SMAD7 c.742+6892A>G - IntronicSNV - 3/3
1-154568665-A-G ADAR c.2270+616T>C - IntronicSNV - 6/14
17-62500689-T-C DDX5 c.210+106A>G - IntronicSNV - 2/12
6-43504412-G-A XPO5 c.2343-2668C>T - IntronicSNV - 20/31
4-146431543-A-G SMAD1 c.1-4223A>G - IntronicSNV - 1/6
12-81738584-C-G PPFIA2 c.2233-112G>C - IntronicSNV - 17/30
6-43503236-G-A XPO5 c.2343-1492C>T - IntronicSNV - 20/31
1-154573419-C-T ADAR c.1601+98G>A - IntronicSNV - 2/14
20-21315131-A-G XRN2 c.1233+308A>G - IntronicSNV - 13/29
6-152284912-C-T ESR1 c.1096+19269C>T - IntronicSNV - 4/7
15-67033421-C-T SMAD6 c.952+24585C>T - IntronicSNV - 3/3
18-45406242-T-C SMAD2 c.237-9307A>G - IntronicSNV - 2/10
12-1046884-G-A RAD52 c.1-4660C>T - IntronicSNV - 1/11
5-31499020-C-A DROSHA c.1669-3541G>T - IntronicSNV - 10/34
3-32920380-C-A TRIM71 c.1020+4903C>A - IntronicSNV - 2/3
8-141627703-G-A AGO2 c.22+17881C>T - IntronicSNV - 1/18
18-45372936-G-T SMAD2 c.998-765C>A - IntronicSNV - 8/10
6-43506592-C-A XPO5 c.2343-4848G>T - IntronicSNV - 20/31
6-152272256-C-A ESR1 c.1096+6613C>A - IntronicSNV - 4/7
X-153678706-C-T FAM50A c.1011+39C>T - IntronicSNV - 12/12
18-45391419-A-T SMAD2 c.730+11T>A - IntronicSNV - 6/10
18-45378611-T-A SMAD2 c.731-913A>T - IntronicSNV - 6/10
1-226595647-C-T PARP1 c.1-17G>A - 5-UTRSNV 1/23 -
12-1044758-G-A RAD52 c.1-2534C>T - IntronicSNV - 1/11
20-21328952-G-C XRN2 c.1774-27G>C - IntronicSNV - 18/29
18-45404603-T-A SMAD2 c.237-7668A>T - IntronicSNV - 2/10
18-45409475-T-C SMAD2 c.237-12540A>G - IntronicSNV - 2/10
19-10778296-A-G ILF3 c.1-2986A>G - IntronicSNV - 1/17
18-45412071-G-A SMAD2 c.236+10821C>T - IntronicSNV - 2/10
1-154565284-A-T ADAR c.2271-2399T>A - IntronicSNV - 6/14
18-45431412-T-C SMAD2 c.1-8285A>G - IntronicSNV - 1/10
18-45409475-T-G SMAD2 c.237-12540A>C - IntronicSNV - 2/10
5-31503712-C-A DROSHA c.1668+950G>T - IntronicSNV - 10/34
X-147019486-T-G FMR1 c.1126-132T>G - IntronicSNV - 11/16
15-67432319-G-A SMAD3 c.207-24914G>A - IntronicSNV - 1/8
18-45430245-T-A SMAD2 c.1-7118A>T - IntronicSNV - 1/10
6-43511697-A-C XPO5 c.2342+2611T>G - IntronicSNV - 20/31
8-141556772-G-A AGO2 c.1748+795C>T - IntronicSNV - 13/18
6-152376908-T-C ESR1 c.1236-5218T>C - IntronicSNV - 5/7
3-32887143-A-G TRIM71 c.852+26719A>G - IntronicSNV - 1/3
20-21300667-T-C XRN2 c.76-6250T>C - IntronicSNV - 1/29
15-67396056-G-A SMAD3 c.206+37358G>A - IntronicSNV - 1/8
7-24955384-G-A OSBPL3 c.1-23293C>T - IntronicSNV - 1/22
6-152318710-G-A ESR1 c.1097-14081G>A - IntronicSNV - 4/7
18-45402571-C-A SMAD2 c.237-5636G>T - IntronicSNV - 2/10
1-38010158-A-G SNIP1 c.328-3802T>C - IntronicSNV - 2/3
21-46508746-C-T ADARB1 c.-220+14038C>T - intron_variant - 1/11
3-32884554-C-T TRIM71 c.852+24130C>T - IntronicSNV - 1/3
14-95610324-T-A DICER1 c.-212-2239A>T - intron_variant - 1/28
18-45373727-G-A SMAD2 c.997+1119C>T - IntronicSNV - 8/10
22-20077122-A-G DGCR8 c.881-70A>G - IntronicSNV - 3/12
5-31518912-T-G DROSHA c.947+2318A>C - IntronicSNV - 5/34
18-45455084-T-G SMAD2 c.-54+1648A>C - intron_variant - 1/10
5-31464615-G-A DROSHA c.2467-165C>T - IntronicSNV - 18/34
12-130850356-T-C PIWIL1 c.2196-1322T>C - IntronicSNV - 18/19
1-65045574-C-T CACHD1 c.262-2265C>T - intron_variant - 2/26
20-21352305-C-T XRN2 c.2584+3077C>T - IntronicSNV - 27/29
6-152356298-G-C ESR1 c.1235+23369G>C - IntronicSNV - 5/7
18-45434094-A-G SMAD2 c.1-10967T>C - IntronicSNV - 1/10
3-32919968-A-G TRIM71 c.1020+4491A>G - IntronicSNV - 2/3
18-45390375-C-T SMAD2 c.730+1055G>A - IntronicSNV - 6/10
14-95581496-C-T DICER1 c.1907+508G>A - IntronicSNV - 13/28
18-45385448-G-C SMAD2 c.730+5982C>G - IntronicSNV - 6/10
18-46452966-G-A SMAD7 c.743-4686C>T - IntronicSNV - 3/3
15-67464545-C-T SMAD3 c.658+1603C>T - IntronicSNV - 5/8
5-31412288-G-A DROSHA c.3526-1294C>T - IntronicSNV - 29/34
12-54675320-C-A HNRNPA1 c.132+34C>A - IntronicSNV - 2/10
X-147006879-G-T FMR1 c.105-179G>T - IntronicSNV - 2/16
17-56080248-C-G SRSF1 c.*2519G>C - 3-UTRSNV 4/4 -
6-152152755-T-G ESR1 c.453-10977T>G - IntronicSNV - 1/7
5-31496847-T-C DROSHA c.1669-1368A>G - IntronicSNV - 10/34
12-1058663-G-A RAD52 c.-19+105C>T - intron_variant - 1/11
8-141563346-G-A AGO2 c.1270-1811C>T - IntronicSNV - 10/18
14-95580386-T-C DICER1 c.1908-825A>G - IntronicSNV - 13/28
15-67439966-C-G SMAD3 c.207-17267C>G - IntronicSNV - 1/8
6-152303809-C-T ESR1 c.1097-28982C>T - IntronicSNV - 4/7
19-6414402-G-A KHSRP c.2128-271C>T - IntronicSNV - 19/19
1-38004314-G-A SNIP1 c.927-701C>T - IntronicSNV - 3/3
1-154559795-G-A ADAR c.3019+806C>T - IntronicSNV - 11/14
9-135821099-C-T GFI1B c.-701+43C>T - intron_variant - 1/10
5-31440485-T-G DROSHA c.2883-3080A>C - IntronicSNV - 22/34
5-31440485-T-C DROSHA c.2883-3080A>G - IntronicSNV - 22/34
5-31499015-T-C DROSHA c.1669-3536A>G - IntronicSNV - 10/34
15-67476756-C-T SMAD3 c.872-309C>T - IntronicSNV - 6/8
1-38019854-G-A SNIP1 c.1-24C>T - 5-UTRSNV 1/4 -
15-67439966-C-T SMAD3 c.207-17267C>T - IntronicSNV - 1/8
15-67422040-A-C SMAD3 c.207-35193A>C - IntronicSNV - 1/8
1-154573139-A-G ADAR c.1601+378T>C - IntronicSNV - 2/14
6-43524482-T-C XPO5 c.1313-781A>G - IntronicSNV - 12/31
8-141543322-A-C AGO2 c.2272-608T>G - IntronicSNV - 17/18
18-48563503-G-T SMAD4 c.-128+6510G>T - intron_variant - 1/11
17-653068-T-C GEMIN4 c.11-1796A>G - IntronicSNV - 1/1
19-6414402-G-T KHSRP c.2128-271C>A - IntronicSNV - 19/19
21-46561322-A-G ADARB1 c.-48+12834A>G - intron_variant - 2/11
20-21325860-G-A XRN2 c.1529+1014G>A - IntronicSNV - 16/29
5-31401003-T-C DROSHA c.*536A>G - 3-UTRSNV 35/35 -
6-43534869-G-A XPO5 c.834+37C>T - IntronicSNV - 7/31
22-20085721-T-A DGCR8 c.1689+3403T>A - IntronicSNV - 8/12
1-226577306-C-T PARP1 c.617+805G>A - IntronicSNV - 4/22
8-141606473-G-A AGO2 c.23-11063C>T - IntronicSNV - 1/18
18-45359210-A-G SMAD2 c.*8988T>C - IntergenicSNV 11/11 -
X-147010398-T-G FMR1 c.419+73T>G - IntronicSNV - 5/16
20-21295509-G-T XRN2 c.75+11398G>T - IntronicSNV - 1/29
12-130848841-A-G PIWIL1 c.2195+1152A>G - IntronicSNV - 18/19
12-1021811-T-C RAD52 c.*746A>G - 3-UTRSNV 12/12 -
1-112309184-A-G DDX20 c.2138A>G p.Glu713Gly Missense 11/11 -
20-21316599-C-T XRN2 c.1233+1776C>T - IntronicSNV - 13/29
7-73125664-C-T STX1A c.31-2212G>A - IntronicSNV - 1/9
6-152281812-G-T ESR1 c.1096+16169G>T - IntronicSNV - 4/7
15-67410637-A-G SMAD3 c.207-46596A>G - IntronicSNV - 1/8
3-32877425-T-C TRIM71 c.852+17001T>C - IntronicSNV - 1/3
1-26745439-G-T LIN28A c.229-6355G>T - IntronicSNV - 2/3
15-67407578-C-T SMAD3 c.206+48880C>T - IntronicSNV - 1/8
3-20179097-C-T KAT2B c.1860+553C>T - IntronicSNV - 12/17
6-152321643-G-T ESR1 c.1097-11148G>T - IntronicSNV - 4/7
18-45427432-A-G SMAD2 c.1-4305T>C - IntronicSNV - 1/10
8-141576720-G-A AGO2 c.337-3987C>T - IntronicSNV - 3/18
15-67371172-T-C SMAD3 c.206+12474T>C - IntronicSNV - 1/8
19-6416123-A-G KHSRP c.1598+186T>C - IntronicSNV - 15/19
15-67386084-G-A SMAD3 c.206+27386G>A - IntronicSNV - 1/8
21-46590300-C-T ADARB1 c.1-1272C>T - IntronicSNV - 2/11
12-130850911-G-A PIWIL1 c.2196-767G>A - IntronicSNV - 18/19
6-152304328-C-T ESR1 c.1097-28463C>T - IntronicSNV - 4/7
18-45410147-C-T SMAD2 c.236+12745G>A - IntronicSNV - 2/10
18-46461959-T-A SMAD7 c.742+6892A>T - IntronicSNV - 3/3
6-119390263-G-A FAM184A c.159+9043C>T - IntronicSNV - 1/17
4-146468331-G-C SMAD1 c.997+255G>C - IntronicSNV - 5/6
18-45430582-G-A SMAD2 c.1-7455C>T - IntronicSNV - 1/10
7-24958281-C-T OSBPL3 c.1-26190G>A - IntronicSNV - 1/22
6-43531420-T-C XPO5 c.912-1337A>G - IntronicSNV - 8/31
12-130850911-G-T PIWIL1 c.2196-767G>T - IntronicSNV - 18/19
7-100479167-C-T SRRT c.251-113C>T - intron_variant - 3/19
18-45453000-C-T SMAD2 c.-54+3732G>A - intron_variant - 1/10
6-152162304-C-T ESR1 c.453-1428C>T - IntronicSNV - 1/7
6-152162304-C-G ESR1 c.453-1428C>G - IntronicSNV - 1/7
20-21296559-C-A XRN2 c.76-10358C>A - IntronicSNV - 1/29
6-43524482-T-A XPO5 c.1313-781A>T - IntronicSNV - 12/31
20-21296559-C-T XRN2 c.76-10358C>T - IntronicSNV - 1/29
20-21296559-C-G XRN2 c.76-10358C>G - IntronicSNV - 1/29
14-95580470-A-G DICER1 c.1908-909T>C - IntronicSNV - 13/28
14-95580470-A-C DICER1 c.1908-909T>G - IntronicSNV - 13/28
15-67041805-C-T SMAD6 c.953-31530C>T - IntronicSNV - 3/3
6-152176334-C-A ESR1 c.643+12412C>A - IntronicSNV - 2/7
15-67025884-G-C SMAD6 c.952+17048G>C - IntronicSNV - 3/3
4-172896480-A-T GALNTL6 c.138+160611A>T - IntronicSNV - 2/12
20-21346604-T-C XRN2 c.2456+262T>C - IntronicSNV - 26/29
4-146436351-A-G SMAD1 c.400+186A>G - IntronicSNV - 2/6
5-31502238-G-A DROSHA c.1668+2424C>T - IntronicSNV - 10/34
8-141544920-C-T AGO2 c.2271+647G>A - IntronicSNV - 17/18
6-152396077-G-A ESR1 c.1369+13818G>A - IntronicSNV - 6/7
21-46555331-A-G ADARB1 c.-48+6843A>G - intron_variant - 2/11
X-147014521-T-C FMR1 c.880+239T>C - IntronicSNV - 9/16
3-32891509-T-C TRIM71 c.853-23801T>C - IntronicSNV - 1/3
6-152423199-C-A ESR1 c.*3098C>A - 3-UTRSNV 8/8 -
6-43516833-G-A XPO5 c.1860+393C>T - IntronicSNV - 17/31
3-32860717-C-G TRIM71 c.852+293C>G - IntronicSNV - 1/3
8-145625538-C-T CPSF1 c.937+22G>A - IntronicSNV - 9/37
3-32860717-C-T TRIM71 c.852+293C>T - IntronicSNV - 1/3
8-145625538-C-G CPSF1 c.937+22G>C - IntronicSNV - 9/37
8-145625538-C-A CPSF1 c.937+22G>T - IntronicSNV - 9/37
12-130845202-C-A PIWIL1 c.1666-523C>A - IntronicSNV - 14/19
12-130845202-C-T PIWIL1 c.1666-523C>T - IntronicSNV - 14/19
8-141566747-C-T AGO2 c.1027-362G>A - IntronicSNV - 8/18
15-67358772-G-A SMAD3 c.206+74G>A - IntronicSNV - 1/8
8-141566747-C-A AGO2 c.1027-362G>T - IntronicSNV - 8/18
6-152280580-C-T ESR1 c.1096+14937C>T - IntronicSNV - 4/7
18-45402005-A-G SMAD2 c.237-5070T>C - IntronicSNV - 2/10
12-130855474-G-A PIWIL1 c.2322-247G>A - IntronicSNV - 19/19
9-130452977-T-C STXBP1 c.*17-77T>C - intron_variant - 19/19
20-21292228-G-C XRN2 c.75+8117G>C - IntronicSNV - 1/29
8-141582440-C-T AGO2 c.336+471G>A - IntronicSNV - 3/18
8-141582440-C-A AGO2 c.336+471G>T - IntronicSNV - 3/18
15-67405253-T-C SMAD3 c.206+46555T>C - IntronicSNV - 1/8
18-45386395-T-A SMAD2 c.730+5035A>T - IntronicSNV - 6/10
18-45386395-T-C SMAD2 c.730+5035A>G - IntronicSNV - 6/10
1-154575315-A-C ADAR c.16-213T>G - IntronicSNV - 1/14
21-46558799-G-A ADARB1 c.-48+10311G>A - intron_variant - 2/11
4-146423927-A-T SMAD1 c.1-11839A>T - IntronicSNV - 1/6
15-67458805-G-A SMAD3 c.533-312G>A - IntronicSNV - 3/8
6-152393203-G-A ESR1 c.1369+10944G>A - IntronicSNV - 6/7
15-67445862-C-T SMAD3 c.207-11371C>T - IntronicSNV - 1/8
6-152318361-C-T ESR1 c.1097-14430C>T - IntronicSNV - 4/7
15-67065952-G-T SMAD6 c.953-7383G>T - IntronicSNV - 3/3
8-141553741-C-T AGO2 c.1839+571G>A - IntronicSNV - 14/18
6-152280580-C-G ESR1 c.1096+14937C>G - IntronicSNV - 4/7
3-32923416-T-C TRIM71 c.1021-4010T>C - IntronicSNV - 2/3
X-147012604-T-C FMR1 c.630+841T>C - IntronicSNV - 7/16
5-31425644-G-A DROSHA c.3217-1066C>T - IntronicSNV - 26/34
4-146478203-C-A SMAD1 c.1255-740C>A - IntronicSNV - 6/6
X-146999534-C-G FMR1 c.52-3917C>G - IntronicSNV - 1/16
15-67427344-C-T SMAD3 c.207-29889C>T - IntronicSNV - 1/8
4-146440075-A-G SMAD1 c.400+3910A>G - IntronicSNV - 2/6
15-67382140-A-G SMAD3 c.206+23442A>G - IntronicSNV - 1/8
15-67364320-T-C SMAD3 c.206+5622T>C - IntronicSNV - 1/8
15-67364320-T-A SMAD3 c.206+5622T>A - IntronicSNV - 1/8
15-67371378-G-A SMAD3 c.206+12680G>A - IntronicSNV - 1/8
14-95620762-T-C DICER1 c.-213+3506A>G - intron_variant - 1/28
15-67439941-A-C SMAD3 c.207-17292A>C - IntronicSNV - 1/8
15-67439941-A-G SMAD3 c.207-17292A>G - IntronicSNV - 1/8
12-113729375-A-G TPCN1 c.1960-39A>G - IntronicSNV - 23/27
1-154556720-C-T ADAR c.*562G>A - 3-UTRSNV 15/15 -
3-32881467-T-C TRIM71 c.852+21043T>C - IntronicSNV - 1/3
4-39413585-T-C KLB c.825+4191T>C - IntronicSNV - 1/4
18-46447430-C-T SMAD7 c.*312G>A - 3-UTRSNV 4/4 -
8-141608033-A-T AGO2 c.23-12623T>A - IntronicSNV - 1/18
8-141608033-A-G AGO2 c.23-12623T>C - IntronicSNV - 1/18
12-7944013-C-T NANOG c.152-1533C>T - IntronicSNV - 1/3
14-95575414-A-G DICER1 c.2257-574T>C - IntronicSNV - 16/28
14-95575414-A-T DICER1 c.2257-574T>A - IntronicSNV - 16/28
5-31407975-C-A DROSHA c.3855-923G>T - IntronicSNV - 32/34
12-1055895-T-C RAD52 c.-19+2873A>G - intron_variant - 1/11
1-154556425-G-A ADAR c.*857C>T - 3-UTRSNV 15/15 -
X-147029303-C-A FMR1 c.1738-900C>A - IntronicSNV - 16/16
6-43500401-G-A XPO5 c.2444-1088C>T - IntronicSNV - 21/31
6-43500401-G-C XPO5 c.2444-1088C>G - IntronicSNV - 21/31
6-152325809-T-G ESR1 c.1097-6982T>G - IntronicSNV - 4/7
18-46464664-A-C SMAD7 c.742+4187T>G - IntronicSNV - 3/3
18-46464664-A-G SMAD7 c.742+4187T>C - IntronicSNV - 3/3
20-21328952-G-A XRN2 c.1774-27G>A - IntronicSNV - 18/29
6-152214990-A-G ESR1 c.760+13084A>G - IntronicSNV - 3/7
8-141566164-C-T AGO2 c.1147-47G>A - IntronicSNV - 9/18
8-141590262-A-C AGO2 c.215+4956T>G - IntronicSNV - 2/18
1-112307997-A-G DDX20 c.1313-362A>G - IntronicSNV - 10/10
14-95570785-C-T DICER1 c.3270-322G>A - IntronicSNV - 22/28
6-43544840-C-T POLH c.-5+663C>T - intron_variant - 1/10
20-21302937-C-T XRN2 c.76-3980C>T - IntronicSNV - 1/29
22-20090192-A-T DGCR8 c.1690-3508A>T - IntronicSNV - 8/12
1-38017905-A-G SNIP1 c.327+341T>C - IntronicSNV - 2/3
12-1033554-C-A RAD52 c.543+1062G>T - IntronicSNV - 7/11
20-21310315-C-T XRN2 c.428-804C>T - IntronicSNV - 4/29
12-130833573-G-A PIWIL1 c.735-211G>A - IntronicSNV - 7/19
6-43504421-C-T XPO5 c.2343-2677G>A - IntronicSNV - 20/31
3-32863574-C-A TRIM71 c.852+3150C>A - IntronicSNV - 1/3
15-67468285-A-G SMAD3 c.659-5294A>G - IntronicSNV - 5/8
18-45372936-G-C SMAD2 c.998-765C>G - IntronicSNV - 8/10
18-45372936-G-A SMAD2 c.998-765C>T - IntronicSNV - 8/10
19-10792856-C-T ILF3 c.1368C>T p.His456His Synonymous 12/18 -
21-46582386-C-T ADARB1 c.1-9186C>T - IntronicSNV - 2/11
16-82722614-A-G CDH13 c.45+61872A>G - IntronicSNV - 1/13
6-152380421-A-G ESR1 c.1236-1705A>G - IntronicSNV - 5/7
22-20083658-G-C DGCR8 c.1689+1340G>C - IntronicSNV - 8/12
15-67381145-G-A SMAD3 c.206+22447G>A - IntronicSNV - 1/8
4-146452773-T-C SMAD1 c.401-8183T>C - IntronicSNV - 2/6
4-146408664-T-G SMAD1 c.-177+5474T>G - intron_variant - 1/6
4-146408664-T-C SMAD1 c.-177+5474T>C - intron_variant - 1/6
1-38014329-C-G SNIP1 c.327+3917G>C - IntronicSNV - 2/3
1-226552068-G-A PARP1 c.2659-297C>T - IntronicSNV - 19/22
6-152327860-C-T ESR1 c.1097-4931C>T - IntronicSNV - 4/7
3-32898536-T-C TRIM71 c.853-16774T>C - IntronicSNV - 1/3
18-46472468-C-A SMAD7 c.667+2286G>T - IntronicSNV - 2/3
18-45374275-T-C SMAD2 c.997+571A>G - IntronicSNV - 8/10
6-152368202-C-T ESR1 c.1236-13924C>T - IntronicSNV - 5/7
3-32861517-T-G TRIM71 c.852+1093T>G - IntronicSNV - 1/3
4-146469857-A-G SMAD1 c.997+1781A>G - IntronicSNV - 5/6
3-32928319-T-G TRIM71 c.1155+759T>G - IntronicSNV - 3/3
20-21361637-G-A XRN2 c.2585-995G>A - IntronicSNV - 27/29
18-45430130-C-A SMAD2 c.1-7003G>T - IntronicSNV - 1/10
15-67056648-C-T SMAD6 c.953-16687C>T - IntronicSNV - 3/3
22-20070285-G-A DGCR8 c.-278+2379G>A - intron_variant - 1/12
8-141630172-G-A AGO2 c.22+15412C>T - IntronicSNV - 1/18
1-154561362-C-T ADAR c.2763-213G>A - IntronicSNV - 9/14
20-21300775-T-C XRN2 c.76-6142T>C - IntronicSNV - 1/29
4-146460053-C-T SMAD1 c.401-903C>T - IntronicSNV - 2/6
6-43525781-G-A XPO5 c.1312+457C>T - IntronicSNV - 12/31
6-43525781-G-C XPO5 c.1312+457C>G - IntronicSNV - 12/31
15-67437863-T-C SMAD3 c.207-19370T>C - IntronicSNV - 1/8
X-147019964-G-A FMR1 c.1188+284G>A - IntronicSNV - 12/16
4-146419647-T-G SMAD1 c.1-16119T>G - IntronicSNV - 1/6
1-153643345-A-C ILF2 c.5+49T>G - IntronicSNV - 1/13
20-21355060-T-A XRN2 c.2584+5832T>A - IntronicSNV - 27/29
20-21355060-T-G XRN2 c.2584+5832T>G - IntronicSNV - 27/29
18-45363214-A-T SMAD2 c.*4984T>A - 3-UTRSNV 11/11 -
15-67396544-C-T SMAD3 c.206+37846C>T - IntronicSNV - 1/8
15-67363573-C-G SMAD3 c.206+4875C>G - IntronicSNV - 1/8
20-21300255-C-T XRN2 c.76-6662C>T - IntronicSNV - 1/29
18-48592020-T-C SMAD4 c.1139+44T>C - IntronicSNV - 9/11
15-67363573-C-T SMAD3 c.206+4875C>T - IntronicSNV - 1/8
18-48592020-T-G SMAD4 c.1139+44T>G - IntronicSNV - 9/11
4-146421702-A-G SMAD1 c.1-14064A>G - IntronicSNV - 1/6
15-67399084-G-A SMAD3 c.206+40386G>A - IntronicSNV - 1/8
6-43517526-C-T XPO5 c.1770+104G>A - IntronicSNV - 16/31
20-21289602-A-G XRN2 c.75+5491A>G - IntronicSNV - 1/29
7-24958843-G-A OSBPL3 c.1-26752C>T - IntronicSNV - 1/22
5-118490402-G-A DMXL1 c.4702+2671G>A - IntronicSNV - 19/42
21-46632718-A-G ADARB1 c.1868-8033A>G - IntronicSNV - 10/11
6-43534610-T-C XPO5 c.834+296A>G - IntronicSNV - 7/31
15-67371229-T-C SMAD3 c.206+12531T>C - IntronicSNV - 1/8
20-21289602-A-T XRN2 c.75+5491A>T - IntronicSNV - 1/29
8-141579599-A-G AGO2 c.336+3312T>C - IntronicSNV - 3/18
6-152416799-G-A ESR1 c.1553+1096G>A - IntronicSNV - 7/7
5-31446486-A-G DROSHA c.2882+2168T>C - IntronicSNV - 22/34
12-130848979-A-G PIWIL1 c.2195+1290A>G - IntronicSNV - 18/19
5-31506894-T-C DROSHA c.1587+1834A>G - IntronicSNV - 9/34
5-31506894-T-A DROSHA c.1587+1834A>T - IntronicSNV - 9/34
7-100478320-C-A SRRT c.122-586C>A - intron_variant - 2/19
18-46460000-A-G SMAD7 c.742+8851T>C - IntronicSNV - 3/3
18-45392531-C-T SMAD2 c.656-1027G>A - IntronicSNV - 5/10
5-31457586-A-G DROSHA c.2575-5839T>C - IntronicSNV - 19/34
18-45392531-C-A SMAD2 c.656-1027G>T - IntronicSNV - 5/10
18-45359664-T-A SMAD2 c.*8534A>T - 3-UTRSNV 11/11 -
4-146461614-G-A SMAD1 c.658+401G>A - IntronicSNV - 3/6
22-20087539-A-G DGCR8 c.1689+5221A>G - IntronicSNV - 8/12
20-21316154-G-A XRN2 c.1233+1331G>A - IntronicSNV - 13/29
21-46502626-A-G ADARB1 c.-220+7918A>G - intron_variant - 1/11
6-152406060-A-G ESR1 c.1370-9460A>G - IntronicSNV - 6/7
6-152406060-A-C ESR1 c.1370-9460A>C - IntronicSNV - 6/7
12-130836383-T-C PIWIL1 c.1044+1871T>C - IntronicSNV - 9/19
1-26752129-A-T LIN28A c.413+151A>T - IntronicSNV - 3/3
15-67020964-C-G SMAD6 c.952+12128C>G - IntronicSNV - 3/3
6-152231016-A-G ESR1 c.760+29110A>G - IntronicSNV - 3/7
1-26752129-A-G LIN28A c.413+151A>G - IntronicSNV - 3/3
6-43543278-G-C XPO5 c.105+219C>G - IntronicSNV - 1/31
12-7943091-G-A NANOG c.151+730G>A - IntronicSNV - 1/3
6-152326650-C-T ESR1 c.1097-6141C>T - IntronicSNV - 4/7
1-26744595-G-A LIN28A c.228+6522G>A - IntronicSNV - 2/3
18-45360155-A-C SMAD2 c.*8043T>G - 3-UTRSNV 11/11 -
20-21306137-T-C XRN2 c.76-780T>C - IntronicSNV - 1/29
4-146434963-T-C SMAD1 c.1-803T>C - IntronicSNV - 1/6
5-31405751-T-C DROSHA c.3994+33A>G - IntronicSNV - 34/34
18-45381457-A-G SMAD2 c.731-3759T>C - IntronicSNV - 6/10
6-43536622-C-T XPO5 c.622-148G>A - IntronicSNV - 5/31
12-130855506-C-A PIWIL1 c.2322-215C>A - IntronicSNV - 19/19
15-67400326-C-G SMAD3 c.206+41628C>G - IntronicSNV - 1/8
15-67475488-C-G SMAD3 c.872-1577C>G - IntronicSNV - 6/8
15-67475488-C-T SMAD3 c.872-1577C>T - IntronicSNV - 6/8
20-21302581-T-C XRN2 c.76-4336T>C - IntronicSNV - 1/29
6-43511108-T-C XPO5 c.2342+3200A>G - IntronicSNV - 20/31
6-152144417-G-A ESR1 c.452+14918G>A - IntronicSNV - 1/7
X-146998508-C-T FMR1 c.51+4760C>T - IntronicSNV - 1/16
5-31512756-A-T DROSHA c.1291-1473T>A - IntronicSNV - 7/34
6-152361711-A-G ESR1 c.1236-20415A>G - IntronicSNV - 5/7
5-31492952-C-T DROSHA c.1842+362G>A - IntronicSNV - 12/34
18-45406749-T-C SMAD2 c.237-9814A>G - IntronicSNV - 2/10
1-153642372-G-T ILF2 c.66-18C>A - IntronicSNV - 2/13
15-67476970-T-C SMAD3 c.872-95T>C - IntronicSNV - 6/8
6-43501851-C-T XPO5 c.2343-107G>A - IntronicSNV - 20/31
18-46454048-A-T SMAD7 c.743-5768T>A - IntronicSNV - 3/3
6-43541522-C-T XPO5 c.106-184G>A - IntronicSNV - 1/31
6-43545678-G-C POLH c.-5+1501G>C - intron_variant - 1/10
3-32919287-C-T TRIM71 c.1020+3810C>T - IntronicSNV - 2/3
6-152314703-C-G ESR1 c.1097-18088C>G - IntronicSNV - 4/7
X-146999007-G-A FMR1 c.52-4444G>A - IntronicSNV - 1/16
18-45395111-G-C SMAD2 c.521-283C>G - IntronicSNV - 4/10
18-45393262-A-G SMAD2 c.655+1432T>C - IntronicSNV - 5/10
18-45373065-G-T SMAD2 c.998-894C>A - IntronicSNV - 8/10
12-1038742-A-G RAD52 c.348+243T>C - IntronicSNV - 5/11
6-43504135-C-G XPO5 c.2343-2391G>C - IntronicSNV - 20/31
15-67396688-C-T SMAD3 c.206+37990C>T - IntronicSNV - 1/8
12-54676109-G-T HNRNPA1 c.490+25G>T - IntronicSNV - 4/10
8-141642721-A-G AGO2 c.22+2863T>C - IntronicSNV - 1/18
3-32928789-T-C TRIM71 c.1155+1229T>C - IntronicSNV - 3/3
5-31531123-G-A DROSHA c.-173-92C>T - intron_variant - 1/34
7-24965298-T-C OSBPL3 c.1-33207A>G - IntronicSNV - 1/22
1-226555302-A-G PARP1 c.2285T>C p.Val762Ala Missense 17/23 -
6-43531408-C-T XPO5 c.912-1325G>A - IntronicSNV - 8/31
1-26744994-G-T LIN28A c.229-6800G>T - IntronicSNV - 2/3
1-26744994-G-A LIN28A c.229-6800G>A - IntronicSNV - 2/3
6-43504641-C-T XPO5 c.2343-2897G>A - IntronicSNV - 20/31
15-67380990-G-A SMAD3 c.206+22292G>A - IntronicSNV - 1/8
18-48581145-A-G SMAD4 c.455-6A>G - IntronicSNV - 4/11
15-67048482-A-G SMAD6 c.953-24853A>G - IntronicSNV - 3/3
15-67416942-C-T SMAD3 c.207-40291C>T - IntronicSNV - 1/8
5-31528143-A-G DROSHA c.20+1004T>C - IntronicSNV - 3/34
8-141637360-G-C AGO2 c.22+8224C>G - IntronicSNV - 1/18
8-141637360-G-A AGO2 c.22+8224C>T - IntronicSNV - 1/18
18-46463612-T-G SMAD7 c.742+5239A>C - IntronicSNV - 3/3
6-152302654-A-C ESR1 c.1097-30137A>C - IntronicSNV - 4/7
6-152275704-G-A ESR1 c.1096+10061G>A - IntronicSNV - 4/7
6-152275704-G-C ESR1 c.1096+10061G>C - IntronicSNV - 4/7
12-130846775-T-C PIWIL1 c.1971-536T>C - IntronicSNV - 16/19
X-152115142-A-C ZNF185 c.1406+1134A>C - IntronicSNV - 16/22
15-67396497-T-G SMAD3 c.206+37799T>G - IntronicSNV - 1/8
6-152291928-A-G ESR1 c.1096+26285A>G - IntronicSNV - 4/7
6-152358312-G-T ESR1 c.1236-23814G>T - IntronicSNV - 5/7
6-43522616-C-T XPO5 c.1441+957G>A - IntronicSNV - 13/31
3-32887613-G-C TRIM71 c.852+27189G>C - IntronicSNV - 1/3
6-152255990-A-G ESR1 c.761-9318A>G - IntronicSNV - 3/7
19-10774611-C-A ILF3 c.1-6671C>A - IntronicSNV - 1/17
1-154580458-C-T ADAR c.15+10G>A - IntronicSNV - 1/14
21-46582960-T-C ADARB1 c.1-8612T>C - IntronicSNV - 2/11
18-45446090-C-T SMAD2 c.-54+10642G>A - intron_variant - 1/10
6-152296298-T-C ESR1 c.1096+30655T>C - IntronicSNV - 4/7
7-24952978-G-T OSBPL3 c.1-20887C>A - IntronicSNV - 1/22
8-141540826-G-A AGO2 c.*1317C>T - IntergenicSNV 19/19 -
3-32863077-G-T TRIM71 c.852+2653G>T - IntronicSNV - 1/3
20-21347653-G-A XRN2 c.2456+1311G>A - IntronicSNV - 26/29
21-46612499-C-T ADARB1 c.1685+7493C>T - IntronicSNV - 9/11
6-152347776-T-A ESR1 c.1235+14847T>A - IntronicSNV - 5/7
15-67425838-G-T SMAD3 c.207-31395G>T - IntronicSNV - 1/8
1-154564141-T-C ADAR c.2271-1256A>G - IntronicSNV - 6/14
6-43537560-C-T XPO5 c.621+679G>A - IntronicSNV - 5/31
1-112299871-C-T DDX20 c.396+509C>T - IntronicSNV - 2/10
1-112303861-G-A DDX20 c.976G>A p.Ala326Thr Missense 7/11 -
15-67425838-G-A SMAD3 c.207-31395G>A - IntronicSNV - 1/8
20-21302734-C-G XRN2 c.76-4183C>G - IntronicSNV - 1/29
1-112303861-G-C DDX20 c.976G>C p.Ala326Pro Missense 7/11 -
5-31517739-T-C DROSHA c.948-2068A>G - IntronicSNV - 5/34
5-31437591-G-A DROSHA c.2883-186C>T - IntronicSNV - 22/34
4-146477667-G-A SMAD1 c.1255-1276G>A - IntronicSNV - 6/6
18-45423156-A-C SMAD2 c.1-29T>G - 5-UTRSNV - 1/10
8-141541888-C-T AGO2 c.*255G>A - 3-UTRSNV 19/19 -
6-152330673-C-T ESR1 c.1097-2118C>T - IntronicSNV - 4/7
18-46449195-C-T SMAD7 c.743-915G>A - IntronicSNV - 3/3
14-95579992-A-G DICER1 c.1908-431T>C - IntronicSNV - 13/28
6-43516701-T-C XPO5 c.1861-504A>G - IntronicSNV - 17/31
14-95600372-T-C DICER1 c.1-577A>G - IntronicSNV - 1/28
14-95600372-T-A DICER1 c.1-577A>T - IntronicSNV - 1/28
6-43499015-T-C XPO5 c.2540+202A>G - IntronicSNV - 22/31
8-141618230-G-A AGO2 c.23-22820C>T - IntronicSNV - 1/18
8-141601993-T-C AGO2 c.23-6583A>G - IntronicSNV - 1/18
21-46500380-G-C ADARB1 c.-220+5672G>C - intron_variant - 1/11
20-21328967-T-A XRN2 c.1774-12T>A - IntronicSNV - 18/29
18-45425967-C-T SMAD2 c.1-2840G>A - IntronicSNV - 1/10
6-152301645-A-G ESR1 c.1097-31146A>G - IntronicSNV - 4/7
18-45410563-G-A SMAD2 c.236+12329C>T - IntronicSNV - 2/10
22-20090038-G-T DGCR8 c.1690-3662G>T - IntronicSNV - 8/12
6-43505709-G-A XPO5 c.2343-3965C>T - IntronicSNV - 20/31
3-32931005-C-G TRIM71 c.1156-847C>G - IntronicSNV - 3/3
6-152369466-C-T ESR1 c.1236-12660C>T - IntronicSNV - 5/7
1-228584762-C-T TRIM11 c.759-14G>A - IntronicSNV - 4/5
18-45420138-T-G SMAD2 c.236+2754A>C - IntronicSNV - 2/10
20-21352236-A-C XRN2 c.2584+3008A>C - IntronicSNV - 27/29
20-21352236-A-G XRN2 c.2584+3008A>G - IntronicSNV - 27/29
6-152197083-T-C ESR1 c.644-4707T>C - IntronicSNV - 2/7
20-21288794-T-C XRN2 c.75+4683T>C - IntronicSNV - 1/29
21-46646013-A-T ADARB1 c.*3901A>T - 3-UTRSNV 12/12 -
6-43540577-G-T XPO5 c.228-262C>A - IntronicSNV - 2/31
1-154561261-G-C ADAR c.2763-112C>G - IntronicSNV - 9/14
X-147020442-A-G FMR1 c.1188+762A>G - IntronicSNV - 12/16
22-20071652-T-C DGCR8 c.1-1835T>C - IntronicSNV - 1/12
8-141543350-T-C AGO2 c.2272-636A>G - IntronicSNV - 17/18
5-31531619-A-G DROSHA c.-174+478T>C - intron_variant - 1/34
6-43545678-G-A POLH c.-5+1501G>A - intron_variant - 1/10
6-152300999-G-A ESR1 c.1097-31792G>A - IntronicSNV - 4/7
15-67372379-A-T SMAD3 c.206+13681A>T - IntronicSNV - 1/8
14-95568003-C-T DICER1 c.4050+1680G>A - IntronicSNV - 23/28
20-21291838-C-T XRN2 c.75+7727C>T - IntronicSNV - 1/29
15-67484119-G-T SMAD3 c.*1245G>T - 3-UTRSNV 9/9 -
X-147026039-C-G FMR1 c.1472-350C>G - IntronicSNV - 14/16
22-20082881-C-T DGCR8 c.1689+563C>T - IntronicSNV - 8/12
19-6422306-C-A KHSRP c.346+45G>T - IntronicSNV - 2/19
22-20082881-C-A DGCR8 c.1689+563C>A - IntronicSNV - 8/12
5-31494971-T-C DROSHA c.1755+422A>G - IntronicSNV - 11/34
6-152199868-A-G ESR1 c.644-1922A>G - IntronicSNV - 2/7
6-152199868-A-T ESR1 c.644-1922A>T - IntronicSNV - 2/7
6-43499528-T-A XPO5 c.2444-215A>T - IntronicSNV - 21/31
6-152143888-G-C ESR1 c.452+14389G>C - IntronicSNV - 1/7
6-152318328-C-G ESR1 c.1097-14463C>G - IntronicSNV - 4/7
6-43499528-T-C XPO5 c.2444-215A>G - IntronicSNV - 21/31
5-31520534-T-C DROSHA c.947+696A>G - IntronicSNV - 5/34
12-130845185-A-C PIWIL1 c.1666-540A>C - IntronicSNV - 14/19
6-43527533-G-A XPO5 c.1221+382C>T - IntronicSNV - 11/31
6-43492353-T-C XPO5 c.3333A>G p.Ile1111Met Missense 31/32 -
19-6424023-C-T KHSRP c.249+441G>A - IntronicSNV - 1/19
21-46639310-G-A ADARB1 c.1868-1441G>A - IntronicSNV - 10/11
6-152364441-C-G ESR1 c.1236-17685C>G - IntronicSNV - 5/7
20-21312258-T-C XRN2 c.636T>C p.Ile212Ile Synonymous 7/30 -
6-152152755-T-C ESR1 c.453-10977T>C - IntronicSNV - 1/7
5-31531080-T-C DROSHA c.-173-49A>G - intron_variant - 1/34
5-31531080-T-A DROSHA c.-173-49A>T - intron_variant - 1/34
6-152279066-C-G ESR1 c.1096+13423C>G - IntronicSNV - 4/7
5-31518803-T-C DROSHA c.947+2427A>G - IntronicSNV - 5/34
5-31532789-A-G C5orf22 c.81+209A>G - IntronicSNV - 1/8
3-32883189-G-C TRIM71 c.852+22765G>C - IntronicSNV - 1/3
3-32883189-G-A TRIM71 c.852+22765G>A - IntronicSNV - 1/3
15-67378984-T-C SMAD3 c.206+20286T>C - IntronicSNV - 1/8
6-43530322-G-C XPO5 c.912-239C>G - IntronicSNV - 8/31
19-6424023-C-A KHSRP c.249+441G>T - IntronicSNV - 1/19
6-43511697-A-G XPO5 c.2342+2611T>C - IntronicSNV - 20/31
15-67462134-G-A SMAD3 c.608-758G>A - IntronicSNV - 4/8
15-67477807-T-C SMAD3 c.1009+605T>C - IntronicSNV - 7/8
15-67023514-T-C SMAD6 c.952+14678T>C - IntronicSNV - 3/3
20-21301696-C-G XRN2 c.76-5221C>G - IntronicSNV - 1/29
6-152279066-C-T ESR1 c.1096+13423C>T - IntronicSNV - 4/7
8-141581705-C-T AGO2 c.336+1206G>A - IntronicSNV - 3/18
8-9599212-C-T TNKS c.2643+6216C>T - IntronicSNV - 17/26
18-48594845-A-G SMAD4 c.1308+1288A>G - IntronicSNV - 10/11
5-31525719-C-T DROSHA c.854+467G>A - IntronicSNV - 4/34
8-141604677-A-G AGO2 c.23-9267T>C - IntronicSNV - 1/18
4-146465439-C-T SMAD1 c.775+1589C>T - IntronicSNV - 4/6
6-43498381-A-G XPO5 c.2677+45T>C - IntronicSNV - 23/31
6-43498381-A-C XPO5 c.2677+45T>G - IntronicSNV - 23/31
18-45386607-T-C SMAD2 c.730+4823A>G - IntronicSNV - 6/10
20-21361962-T-C XRN2 c.2585-670T>C - IntronicSNV - 27/29
20-21353344-A-G XRN2 c.2584+4116A>G - IntronicSNV - 27/29
17-62503963-C-G CEP95 c.19+729C>G - IntronicSNV - 1/19
15-67439608-C-G SMAD3 c.207-17625C>G - IntronicSNV - 1/8
5-31402132-A-G DROSHA c.3995-463T>C - IntronicSNV - 34/34
15-67439608-C-T SMAD3 c.207-17625C>T - IntronicSNV - 1/8
5-31402132-A-C DROSHA c.3995-463T>G - IntronicSNV - 34/34
21-46499033-G-C ADARB1 c.-220+4325G>C - intron_variant - 1/11
5-31525131-G-A DROSHA c.854+1055C>T - IntronicSNV - 4/34
14-95605510-G-C DICER1 c.1-5715C>G - IntronicSNV - 1/28
20-21353915-C-T XRN2 c.2584+4687C>T - IntronicSNV - 27/29
15-67020964-C-T SMAD6 c.952+12128C>T - IntronicSNV - 3/3
12-7942276-T-G NANOG c.66T>G p.Ser22Ser Synonymous 1/4 -
21-46632542-G-A ADARB1 c.1867+7891G>A - IntronicSNV - 10/11
18-46453406-A-C SMAD7 c.743-5126T>G - IntronicSNV - 3/3
3-32881467-T-A TRIM71 c.852+21043T>A - IntronicSNV - 1/3
12-1036165-G-A RAD52 c.467+146C>T - IntronicSNV - 6/11
12-7944639-C-T NANOG c.152-907C>T - IntronicSNV - 1/3
7-27943679-C-T JAZF1 c.189-8644G>A - IntronicSNV - 2/4
20-21334455-T-C XRN2 c.1937-972T>C - IntronicSNV - 20/29
1-38010243-G-A SNIP1 c.328-3887C>T - IntronicSNV - 2/3
1-226595256-C-A PARP1 c.120+255G>T - IntronicSNV - 1/22
20-21341986-T-A XRN2 c.2255+3556T>A - IntronicSNV - 24/29
15-67421260-G-A SMAD3 c.207-35973G>A - IntronicSNV - 1/8
X-147021470-G-T FMR1 c.1189-625G>T - IntronicSNV - 12/16
8-141641538-C-A AGO2 c.22+4046G>T - IntronicSNV - 1/18
18-46463223-G-A SMAD7 c.742+5628C>T - IntronicSNV - 3/3
18-46453406-A-T SMAD7 c.743-5126T>A - IntronicSNV - 3/3
15-67484119-G-A SMAD3 c.*1245G>A - 3-UTRSNV 9/9 -
18-45398212-T-C SMAD2 c.237-1277A>G - IntronicSNV - 2/10
15-67056796-G-C SMAD6 c.953-16539G>C - IntronicSNV - 3/3
12-7943028-A-C NANOG c.151+667A>C - IntronicSNV - 1/3
18-48608235-A-G SMAD4 c.*3398A>G - 3-UTRSNV 12/12 -
8-141573358-G-A AGO2 c.337-625C>T - IntronicSNV - 3/18
15-67056796-G-A SMAD6 c.953-16539G>A - IntronicSNV - 3/3
3-32889209-T-G TRIM71 c.853-26101T>G - IntronicSNV - 1/3
1-55207703-G-T TTC4 c.*517G>T - 3-UTRSNV 10/10 -
3-32889209-T-C TRIM71 c.853-26101T>C - IntronicSNV - 1/3
6-152349321-G-T ESR1 c.1235+16392G>T - IntronicSNV - 5/7
3-32860729-G-A TRIM71 c.852+305G>A - IntronicSNV - 1/3
15-67465638-C-G SMAD3 c.658+2696C>G - IntronicSNV - 5/8
22-20086571-G-A DGCR8 c.1689+4253G>A - IntronicSNV - 8/12
22-20086571-G-T DGCR8 c.1689+4253G>T - IntronicSNV - 8/12
3-32918054-C-T TRIM71 c.1020+2577C>T - IntronicSNV - 2/3
6-152349321-G-A ESR1 c.1235+16392G>A - IntronicSNV - 5/7
1-226553183-A-C PARP1 c.2506-328T>G - IntronicSNV - 18/22
8-139228388-T-C FAM135B c.670-18476A>G - IntronicSNV - 7/19
8-139228388-T-A FAM135B c.670-18476A>T - IntronicSNV - 7/19
12-7946393-C-T NANOG c.414+585C>T - IntronicSNV - 2/3
15-67377955-T-C SMAD3 c.206+19257T>C - IntronicSNV - 1/8
19-10796074-C-T ILF3 c.*933C>T - 3-UTRSNV 18/18 -
3-32924090-C-T TRIM71 c.1021-3336C>T - IntronicSNV - 2/3
21-46503372-A-G ADARB1 c.-220+8664A>G - intron_variant - 1/11
3-32901386-G-A TRIM71 c.853-13924G>A - IntronicSNV - 1/3
5-31484475-G-A DROSHA c.1996+513C>T - IntronicSNV - 14/34
6-152195705-C-G ESR1 c.644-6085C>G - IntronicSNV - 2/7
12-130844984-C-A PIWIL1 c.1666-741C>A - IntronicSNV - 14/19
18-46460015-C-G SMAD7 c.742+8836G>C - IntronicSNV - 3/3
18-46460015-C-A SMAD7 c.742+8836G>T - IntronicSNV - 3/3
17-56080449-T-C SRSF1 c.*2318A>G - 3-UTRSNV 4/4 -
18-48567130-A-G SMAD4 c.1-6287A>G - IntronicSNV - 1/11
6-43536739-C-T XPO5 c.622-265G>A - IntronicSNV - 5/31
6-152218394-T-C ESR1 c.760+16488T>C - IntronicSNV - 3/7
18-45406598-G-A SMAD2 c.237-9663C>T - IntronicSNV - 2/10
4-146468331-G-A SMAD1 c.997+255G>A - IntronicSNV - 5/6
18-45441352-T-G SMAD2 c.-54+15380A>C - intron_variant - 1/10
18-45442129-C-A SMAD2 c.-54+14603G>T - intron_variant - 1/10
X-146996532-G-A FMR1 c.51+2784G>A - IntronicSNV - 1/16
17-648033-C-T GEMIN4 c.*73G>A - 3-UTRSNV 2/2 -
6-152188156-T-C ESR1 c.644-13634T>C - IntronicSNV - 2/7
1-112300314-T-C DDX20 c.396+952T>C - IntronicSNV - 2/10
6-152130551-G-C ESR1 c.452+1052G>C - IntronicSNV - 1/7
6-152130551-G-A ESR1 c.452+1052G>A - IntronicSNV - 1/7
6-152364642-C-G ESR1 c.1236-17484C>G - IntronicSNV - 5/7
18-45420138-T-C SMAD2 c.236+2754A>G - IntronicSNV - 2/10
3-32929328-A-G TRIM71 c.1155+1768A>G - IntronicSNV - 3/3
6-43504462-A-T XPO5 c.2343-2718T>A - IntronicSNV - 20/31
14-95581537-T-C DICER1 c.1907+467A>G - IntronicSNV - 13/28
6-43540792-C-G XPO5 c.227+425G>C - IntronicSNV - 2/31
20-21307696-G-A XRN2 c.315+457G>A - IntronicSNV - 3/29
15-67022021-C-G SMAD6 c.952+13185C>G - IntronicSNV - 3/3
15-67401977-G-C SMAD3 c.206+43279G>C - IntronicSNV - 1/8
21-46563219-A-G ADARB1 c.-48+14731A>G - intron_variant - 2/11
15-67401977-G-A SMAD3 c.206+43279G>A - IntronicSNV - 1/8
18-45368779-C-G SMAD2 c.1281-458G>C - IntronicSNV - 10/10
18-45368779-C-T SMAD2 c.1281-458G>A - IntronicSNV - 10/10
18-46462183-A-G SMAD7 c.742+6668T>C - IntronicSNV - 3/3
15-67476768-C-G SMAD3 c.872-297C>G - IntronicSNV - 6/8
3-32923331-G-T TRIM71 c.1021-4095G>T - IntronicSNV - 2/3
15-67470208-A-G SMAD3 c.659-3371A>G - IntronicSNV - 5/8
15-67413564-A-G SMAD3 c.207-43669A>G - IntronicSNV - 1/8
6-152228342-C-A ESR1 c.760+26436C>A - IntronicSNV - 3/7
6-43537035-A-C XPO5 c.622-561T>G - IntronicSNV - 5/31
18-45434130-A-C SMAD2 c.1-11003T>G - IntronicSNV - 1/10
15-67413564-A-T SMAD3 c.207-43669A>T - IntronicSNV - 1/8
1-154561925-C-T ADAR c.2682G>A p.Val894Val Synonymous 9/15 -
8-141621182-C-A AGO2 c.22+24402G>T - IntronicSNV - 1/18
4-146405153-T-G SMAD1 c.-177+1963T>G - intron_variant - 1/6
6-152183355-C-T ESR1 c.644-18435C>T - IntronicSNV - 2/7
6-152352479-C-A ESR1 c.1235+19550C>A - IntronicSNV - 5/7
18-45427500-T-G SMAD2 c.1-4373A>C - IntronicSNV - 1/10
18-45427500-T-C SMAD2 c.1-4373A>G - IntronicSNV - 1/10
6-152229201-A-C ESR1 c.760+27295A>C - IntronicSNV - 3/7
3-32926106-G-T TRIM71 c.1021-1320G>T - IntronicSNV - 2/3
3-32926106-G-A TRIM71 c.1021-1320G>A - IntronicSNV - 2/3
3-32926106-G-C TRIM71 c.1021-1320G>C - IntronicSNV - 2/3
20-21343866-T-C XRN2 c.2256-2193T>C - IntronicSNV - 24/29
14-95612585-C-G DICER1 c.-212-4500G>C - intron_variant - 1/28
14-95612585-C-T DICER1 c.-212-4500G>A - intron_variant - 1/28
15-67362994-T-C SMAD3 c.206+4296T>C - IntronicSNV - 1/8
15-67362994-T-A SMAD3 c.206+4296T>A - IntronicSNV - 1/8
14-95554455-A-T DICER1 c.*2380T>A - 3-UTRSNV 29/29 -
X-147009320-A-G FMR1 c.199-520A>G - IntronicSNV - 3/16
1-226578809-C-T PARP1 c.403-484G>A - IntronicSNV - 3/22
1-53679329-G-A CPT2 c.*62G>A - 3-UTRSNV 5/5 -
1-53679329-G-C CPT2 c.*62G>C - 3-UTRSNV 5/5 -
17-650371-C-T GEMIN4 c.912G>A p.Ser304Ser Synonymous 2/2 -
22-20070171-T-C DGCR8 c.-278+2265T>C - intron_variant - 1/12
18-45432593-C-T SMAD2 c.1-9466G>A - IntronicSNV - 1/10
15-67048578-A-T SMAD6 c.953-24757A>T - IntronicSNV - 3/3
15-93447631-T-C CHD2 c.62+3102T>C - IntronicSNV - 2/38
15-67048578-A-G SMAD6 c.953-24757A>G - IntronicSNV - 3/3
15-93447631-T-A CHD2 c.62+3102T>A - IntronicSNV - 2/38
12-1022569-A-C RAD52 c.1245T>G p.Tyr415* Nonsense 12/12 -
4-146466875-C-T SMAD1 c.776-980C>T - IntronicSNV - 4/6
3-32883083-G-T TRIM71 c.852+22659G>T - IntronicSNV - 1/3
20-21353915-C-G XRN2 c.2584+4687C>G - IntronicSNV - 27/29
1-154556663-G-A ADAR c.*619C>T - 3-UTRSNV 15/15 -
21-46539725-G-A ADARB1 c.-219-8592G>A - intron_variant - 1/11
22-20069172-A-G DGCR8 c.-278+1266A>G - intron_variant - 1/12
3-32916527-G-A TRIM71 c.1020+1050G>A - IntronicSNV - 2/3
21-46579622-C-T ADARB1 c.1-11950C>T - IntronicSNV - 1/11
22-20079688-T-C DGCR8 c.1606+195T>C - IntronicSNV - 7/12
1-145584467-C-T PIAS3 c.1449-15C>T - IntronicSNV - 11/13
15-67405416-A-G SMAD3 c.206+46718A>G - IntronicSNV - 1/8
3-52820981-A-G ITIH1 c.1754A>G p.Glu585Gly Missense 14/22 -
8-141629360-G-A AGO2 c.22+16224C>T - IntronicSNV - 1/18
3-52820981-A-T ITIH1 c.1754A>T p.Glu585Val Missense 14/22 -
6-152132214-C-T ESR1 c.452+2715C>T - IntronicSNV - 1/7
4-146437641-T-A SMAD1 c.400+1476T>A - IntronicSNV - 2/6
14-95613471-A-G DICER1 c.-212-5386T>C - intron_variant - 1/28
12-1036042-C-G RAD52 c.467+269G>C - IntronicSNV - 6/11
14-95622232-C-T DICER1 c.-213+2036G>A - intron_variant - 1/28
6-152304302-A-T ESR1 c.1097-28489A>T - IntronicSNV - 4/7
1-154572621-T-C ADAR c.1601+896A>G - IntronicSNV - 2/14
6-152304302-A-G ESR1 c.1097-28489A>G - IntronicSNV - 4/7
15-67365712-C-T SMAD3 c.206+7014C>T - IntronicSNV - 1/8
5-31438706-A-G DROSHA c.2883-1301T>C - IntronicSNV - 22/34
22-20083260-A-G DGCR8 c.1689+942A>G - IntronicSNV - 8/12
6-152378183-T-C ESR1 c.1236-3943T>C - IntronicSNV - 5/7
6-152160325-A-T ESR1 c.453-3407A>T - IntronicSNV - 1/7
6-43491160-G-A XPO5 c.*446C>T - 3-UTRSNV 32/32 -
6-152421083-G-A ESR1 c.*982G>A - 3-UTRSNV 8/8 -
21-46581001-T-C ADARB1 c.1-10571T>C - IntronicSNV - 1/11
18-45448872-G-T SMAD2 c.-54+7860C>A - intron_variant - 1/10
15-67426538-C-T SMAD3 c.207-30695C>T - IntronicSNV - 1/8
6-43529154-T-C XPO5 c.1012-410A>G - IntronicSNV - 9/31
6-152287356-T-C ESR1 c.1096+21713T>C - IntronicSNV - 4/7
5-31460025-A-G DROSHA c.2574+4318T>C - IntronicSNV - 19/34
6-43508165-G-A XPO5 c.2342+6143C>T - IntronicSNV - 20/31
5-31453023-A-G DROSHA c.2575-1276T>C - IntronicSNV - 19/34
6-152277035-T-C ESR1 c.1096+11392T>C - IntronicSNV - 4/7
15-67070612-G-T SMAD6 c.953-2723G>T - IntronicSNV - 3/3
20-21326098-T-A XRN2 c.1530-955T>A - IntronicSNV - 16/29
5-31501582-G-A DROSHA c.1668+3080C>T - IntronicSNV - 10/34
15-67361926-A-T SMAD3 c.206+3228A>T - IntronicSNV - 1/8
6-152355289-G-T ESR1 c.1235+22360G>T - IntronicSNV - 5/7
6-152355289-G-A ESR1 c.1235+22360G>A - IntronicSNV - 5/7
6-152355289-G-C ESR1 c.1235+22360G>C - IntronicSNV - 5/7
1-226566401-T-G PARP1 c.1745+442A>C - IntronicSNV - 12/22
20-21293029-G-T XRN2 c.75+8918G>T - IntronicSNV - 1/29
18-45432593-C-A SMAD2 c.1-9466G>T - IntronicSNV - 1/10
6-43509274-G-T XPO5 c.2342+5034C>A - IntronicSNV - 20/31
15-67446785-G-A SMAD3 c.207-10448G>A - IntronicSNV - 1/8
6-43525401-T-C XPO5 c.1312+837A>G - IntronicSNV - 12/31
1-112308953-T-C DDX20 c.1907T>C p.Ile636Thr Missense 11/11 -
21-46510938-A-G ADARB1 c.-220+16230A>G - intron_variant - 1/11
15-67468715-A-G SMAD3 c.659-4864A>G - IntronicSNV - 5/8
18-45375785-G-A SMAD2 c.785-727C>T - IntronicSNV - 7/10
17-648664-G-T GEMIN4 c.2619C>A p.His873Gln Missense 2/2 -
17-648664-G-A GEMIN4 c.2619C>T p.His873His Synonymous 2/2 -
17-652063-A-G GEMIN4 c.11-791T>C - IntronicSNV - 1/1
12-131358281-C-T RAN c.247+608C>T - IntronicSNV - 4/6
15-67371929-G-C SMAD3 c.206+13231G>C - IntronicSNV - 1/8
8-141577984-G-A AGO2 c.336+4927C>T - IntronicSNV - 3/18
2-128181122-G-A PROC c.535+138G>A - IntronicSNV - 6/8
20-21288772-A-G XRN2 c.75+4661A>G - IntronicSNV - 1/29
6-43491860-C-T XPO5 c.3478-117G>A - IntronicSNV - 31/31
18-45384675-T-C SMAD2 c.730+6755A>G - IntronicSNV - 6/10
1-226568984-A-C PARP1 c.1160-75T>G - IntronicSNV - 8/22
6-43504025-G-A XPO5 c.2343-2281C>T - IntronicSNV - 20/31
6-43505064-G-A XPO5 c.2343-3320C>T - IntronicSNV - 20/31
19-55899602-C-T RPL28 c.325-9C>T - IntronicSNV - 4/4
20-21288772-A-T XRN2 c.75+4661A>T - IntronicSNV - 1/29
6-152198662-T-C ESR1 c.644-3128T>C - IntronicSNV - 2/7
18-46464592-A-C SMAD7 c.742+4259T>G - IntronicSNV - 3/3
14-95560081-C-T DICER1 c.5364+144G>A - IntronicSNV - 26/28
17-62500023-A-G DDX5 c.442-37T>C - IntronicSNV - 4/12
12-1044594-T-C RAD52 c.1-2370A>G - IntronicSNV - 1/11
5-31444097-C-T DROSHA c.2882+4557G>A - IntronicSNV - 22/34
20-21291624-C-T XRN2 c.75+7513C>T - IntronicSNV - 1/29
1-38002251-G-C SNIP1 c.*1098C>G - 3-UTRSNV 4/4 -
19-6414908-G-C KHSRP c.2127+244C>G - IntronicSNV - 19/19
19-6414908-G-A KHSRP c.2127+244C>T - IntronicSNV - 19/19
18-45438066-A-G SMAD2 c.1-14939T>C - IntronicSNV - 1/10
18-45438066-A-C SMAD2 c.1-14939T>G - IntronicSNV - 1/10
21-46504244-C-T ADARB1 c.-220+9536C>T - intron_variant - 1/11
5-31494801-A-T DROSHA c.1755+592T>A - IntronicSNV - 11/34
1-154561389-G-A ADAR c.2763-240C>T - IntronicSNV - 9/14
6-152383820-C-T ESR1 c.1369+1561C>T - IntronicSNV - 6/7
14-95560081-C-A DICER1 c.5364+144G>T - IntronicSNV - 26/28
21-46583156-T-C ADARB1 c.1-8416T>C - IntronicSNV - 2/11
15-67038131-G-T SMAD6 c.952+29295G>T - IntronicSNV - 3/3
14-95560918-T-C DICER1 c.5096-425A>G - IntronicSNV - 25/28
18-45435202-C-A SMAD2 c.1-12075G>T - IntronicSNV - 1/10
5-31515657-G-A DROSHA c.962C>T p.Ser321Leu Missense 6/35 -
5-31527742-A-C DROSHA c.21-723T>G - IntronicSNV - 3/34
5-31506966-C-T DROSHA c.1587+1762G>A - IntronicSNV - 9/34
4-146475977-T-C SMAD1 c.1254+785T>C - IntronicSNV - 6/6
6-43543192-G-A XPO5 c.105+305C>T - IntronicSNV - 1/31
1-26740395-C-T LIN28A c.228+2322C>T - IntronicSNV - 2/3
6-43543278-G-A XPO5 c.105+219C>T - IntronicSNV - 1/31
22-20089271-A-G DGCR8 c.1690-4429A>G - IntronicSNV - 8/12
15-67421913-T-C SMAD3 c.207-35320T>C - IntronicSNV - 1/8
1-154559598-T-C ADAR c.3020-759A>G - IntronicSNV - 11/14
6-43526593-A-C XPO5 c.1222-265T>G - IntronicSNV - 11/31
3-32867678-C-T TRIM71 c.852+7254C>T - IntronicSNV - 1/3
7-24966755-C-A OSBPL3 c.1-34664G>T - IntronicSNV - 1/22
1-154579634-C-G ADAR c.15+834G>C - IntronicSNV - 1/14
1-154556266-G-A ADAR c.*1016C>T - 3-UTRSNV 15/15 -
8-141614881-G-A AGO2 c.23-19471C>T - IntronicSNV - 1/18
3-32919746-C-T TRIM71 c.1020+4269C>T - IntronicSNV - 2/3
6-152149586-G-A ESR1 c.453-14146G>A - IntronicSNV - 1/7
20-21327505-T-G XRN2 c.1665+317T>G - IntronicSNV - 17/29
4-146423515-T-G SMAD1 c.1-12251T>G - IntronicSNV - 1/6
4-146423515-T-A SMAD1 c.1-12251T>A - IntronicSNV - 1/6
15-67069862-T-G SMAD6 c.953-3473T>G - IntronicSNV - 3/3
5-31447917-T-C DROSHA c.2882+737A>G - IntronicSNV - 22/34
3-32913006-C-T TRIM71 c.853-2304C>T - IntronicSNV - 1/3
8-141608635-C-G AGO2 c.23-13225G>C - IntronicSNV - 1/18
8-141608635-C-T AGO2 c.23-13225G>A - IntronicSNV - 1/18
15-67439023-C-T SMAD3 c.207-18210C>T - IntronicSNV - 1/8
16-56279479-T-C GNAO1 c.162-30364T>C - IntronicSNV - 2/8
8-141557608-G-C AGO2 c.1707C>G p.Val569Val Synonymous 13/19 -
18-45380593-T-C SMAD2 c.731-2895A>G - IntronicSNV - 6/10
18-45380593-T-A SMAD2 c.731-2895A>T - IntronicSNV - 6/10
8-141551067-G-C AGO2 c.2034+196C>G - IntronicSNV - 15/18
8-141551067-G-A AGO2 c.2034+196C>T - IntronicSNV - 15/18
6-152218759-G-A ESR1 c.760+16853G>A - IntronicSNV - 3/7
14-95556402-C-A DICER1 c.*433G>T - 3-UTRSNV 29/29 -
5-31439859-G-C DROSHA c.2883-2454C>G - IntronicSNV - 22/34
8-141578583-C-T AGO2 c.336+4328G>A - IntronicSNV - 3/18
18-45441296-C-T SMAD2 c.-54+15436G>A - intron_variant - 1/10
6-152318524-T-C ESR1 c.1097-14267T>C - IntronicSNV - 4/7
6-152392561-C-G ESR1 c.1369+10302C>G - IntronicSNV - 6/7
18-45390248-A-T SMAD2 c.730+1182T>A - IntronicSNV - 6/10
12-1053298-C-T RAD52 c.-19+5470G>A - intron_variant - 1/11
18-45387999-A-G SMAD2 c.730+3431T>C - IntronicSNV - 6/10
7-24955384-G-C OSBPL3 c.1-23293C>G - IntronicSNV - 1/22
4-146437391-T-C SMAD1 c.400+1226T>C - IntronicSNV - 2/6
X-146999690-T-G FMR1 c.52-3761T>G - IntronicSNV - 1/16
6-43532858-C-T XPO5 c.911+539G>A - IntronicSNV - 8/31
6-152239229-G-A ESR1 c.761-26079G>A - IntronicSNV - 3/7
5-31505216-G-A DROSHA c.1588-474C>T - IntronicSNV - 9/34
6-43529124-T-C XPO5 c.1012-380A>G - IntronicSNV - 9/31
1-154573139-A-C ADAR c.1601+378T>G - IntronicSNV - 2/14
20-21318698-T-G XRN2 c.1234-984T>G - IntronicSNV - 13/29
20-21318698-T-C XRN2 c.1234-984T>C - IntronicSNV - 13/29
20-21327505-T-A XRN2 c.1665+317T>A - IntronicSNV - 17/29
21-46544198-T-G ADARB1 c.-219-4119T>G - intron_variant - 1/11
8-141587273-C-T AGO2 c.216-4242G>A - IntronicSNV - 2/18
18-46457463-T-C SMAD7 c.743-9183A>G - IntronicSNV - 3/3
7-24966446-C-A OSBPL3 c.1-34355G>T - IntronicSNV - 1/22
8-141578583-C-G AGO2 c.336+4328G>C - IntronicSNV - 3/18
22-20071423-T-C DGCR8 c.1-2064T>C - IntronicSNV - 1/12
3-32918461-G-A TRIM71 c.1020+2984G>A - IntronicSNV - 2/3
18-45390248-A-G SMAD2 c.730+1182T>C - IntronicSNV - 6/10
20-2633466-C-T NOP56 c.4-22C>T - IntronicSNV - 1/11
20-21344791-G-A XRN2 c.2256-1268G>A - IntronicSNV - 24/29
20-2633466-C-G NOP56 c.4-22C>G - IntronicSNV - 1/11
21-46559961-C-G ADARB1 c.-48+11473C>G - intron_variant - 2/11
6-152303623-A-T ESR1 c.1097-29168A>T - IntronicSNV - 4/7
3-32889361-G-A TRIM71 c.853-25949G>A - IntronicSNV - 1/3
3-32929583-T-C TRIM71 c.1155+2023T>C - IntronicSNV - 3/3
5-31510535-T-C DROSHA c.1432+607A>G - IntronicSNV - 8/34
5-31510535-T-A DROSHA c.1432+607A>T - IntronicSNV - 8/34
20-21331372-G-A XRN2 c.1936+1273G>A - IntronicSNV - 20/29
18-45455641-G-A SMAD2 c.-54+1091C>T - intron_variant - 1/10
6-152383997-C-T ESR1 c.1369+1738C>T - IntronicSNV - 6/7
20-21329081-A-G XRN2 c.1863+13A>G - IntronicSNV - 19/29
12-131359760-T-G RAN c.436-397T>G - IntronicSNV - 5/6
12-130826904-C-T PIWIL1 c.1-233C>T - IntronicSNV 1/20 -
3-32891749-G-A TRIM71 c.853-23561G>A - IntronicSNV - 1/3
14-95558492-C-T DICER1 c.5365-790G>A - IntronicSNV - 26/28
6-43541985-A-G XPO5 c.106-647T>C - IntronicSNV - 1/31
19-6423961-G-A KHSRP c.249+503C>T - IntronicSNV - 1/19
18-45447819-G-T SMAD2 c.-54+8913C>A - intron_variant - 1/10
15-67377948-G-A SMAD3 c.206+19250G>A - IntronicSNV - 1/8
6-152401031-T-A ESR1 c.1370-14489T>A - IntronicSNV - 6/7
8-141550353-T-A AGO2 c.2035-800A>T - IntronicSNV - 15/18
12-130854715-G-A PIWIL1 c.2322-1006G>A - IntronicSNV - 19/19
6-152325068-G-C ESR1 c.1097-7723G>C - IntronicSNV - 4/7
8-141550353-T-C AGO2 c.2035-800A>G - IntronicSNV - 15/18
1-154556720-C-A ADAR c.*562G>T - 3-UTRSNV 15/15 -
21-46578182-A-G ADARB1 c.1-13390A>G - IntronicSNV - 2/11
5-31439859-G-A DROSHA c.2883-2454C>T - IntronicSNV - 22/34
20-21327709-T-G XRN2 c.1665+521T>G - IntronicSNV - 17/29
14-95568229-C-G DICER1 c.4050+1454G>C - IntronicSNV - 23/28
18-45379545-A-T SMAD2 c.731-1847T>A - IntronicSNV - 6/10
6-152338161-A-G ESR1 c.1235+5232A>G - IntronicSNV - 5/7
9-126247843-T-C DENND1A c.994-27667A>G - IntronicSNV - 13/20
1-26739085-A-C LIN28A c.228+1012A>C - IntronicSNV - 2/3
18-45416323-T-C SMAD2 c.236+6569A>G - IntronicSNV - 2/10
20-21367460-G-A XRN2 c.2649-46G>A - IntronicSNV - 28/29
15-67465819-C-G SMAD3 c.658+2877C>G - IntronicSNV - 5/8
3-32926986-G-A TRIM71 c.1021-440G>A - IntronicSNV - 2/3
6-152183336-G-A ESR1 c.644-18454G>A - IntronicSNV - 2/7
8-141558182-T-C AGO2 c.1589-456A>G - IntronicSNV - 12/18
6-43532720-T-C XPO5 c.911+677A>G - IntronicSNV - 8/31
3-32927960-C-T TRIM71 c.1155+400C>T - IntronicSNV - 3/3
17-654230-G-C GEMIN4 c.10+1143C>G - IntronicSNV - 1/1
18-45431001-A-T SMAD2 c.1-7874T>A - IntronicSNV - 1/10
6-152152193-G-A ESR1 c.453-11539G>A - IntronicSNV - 1/7
6-152152193-G-C ESR1 c.453-11539G>C - IntronicSNV - 1/7
4-146477430-T-A SMAD1 c.1255-1513T>A - IntronicSNV - 6/6
6-43539320-T-C XPO5 c.301-589A>G - IntronicSNV - 3/31
15-67038129-G-A SMAD6 c.952+29293G>A - IntronicSNV - 3/3
4-146447789-T-C SMAD1 c.400+11624T>C - IntronicSNV - 2/6
12-113729375-A-C TPCN1 c.1960-39A>C - IntronicSNV - 23/27
18-45362194-T-C SMAD2 c.*6004A>G - 3-UTRSNV 11/11 -
14-95624276-T-A DICER1 c.-221A>T - 5_prime_UTR_variant 1/29 -
5-31469748-G-A DROSHA c.2242-1578C>T - IntronicSNV - 16/34
5-31514769-A-T DROSHA c.1290+326T>A - IntronicSNV - 7/34
3-32924802-C-T TRIM71 c.1021-2624C>T - IntronicSNV - 2/3
6-152340434-T-G ESR1 c.1235+7505T>G - IntronicSNV - 5/7
6-43526885-T-C XPO5 c.1222-557A>G - IntronicSNV - 11/31
1-154575613-T-C ADAR c.16-511A>G - IntronicSNV - 1/14
15-67444747-C-T SMAD3 c.207-12486C>T - IntronicSNV - 1/8
16-88535407-C-G ZFPM1 c.40+15321C>G - IntronicSNV - 1/9
5-31509823-G-A DROSHA c.1433-941C>T - IntronicSNV - 8/34
6-152306174-A-G ESR1 c.1097-26617A>G - IntronicSNV - 4/7
18-45453855-T-C SMAD2 c.-54+2877A>G - intron_variant - 1/10
15-67419644-G-T SMAD3 c.207-37589G>T - IntronicSNV - 1/8
15-67419644-G-A SMAD3 c.207-37589G>A - IntronicSNV - 1/8
19-10770292-A-C ILF3 c.-91+5129A>C - intron_variant - 1/17
8-141581705-C-A AGO2 c.336+1206G>T - IntronicSNV - 3/18
21-46567885-C-T ADARB1 c.-48+19397C>T - intron_variant - 2/11
15-67460009-G-A SMAD3 c.607+818G>A - IntronicSNV - 4/8
8-141568211-G-A AGO2 c.878+373C>T - IntronicSNV - 7/18
19-10770292-A-G ILF3 c.-91+5129A>G - intron_variant - 1/17
21-46499471-G-A ADARB1 c.-220+4763G>A - intron_variant - 1/11
22-20092777-C-A DGCR8 c.1690-923C>A - IntronicSNV - 8/12
22-20092777-C-T DGCR8 c.1690-923C>T - IntronicSNV - 8/12
15-67068137-G-A SMAD6 c.953-5198G>A - IntronicSNV - 3/3
6-152363112-A-G ESR1 c.1236-19014A>G - IntronicSNV - 5/7
6-152366614-G-A ESR1 c.1236-15512G>A - IntronicSNV - 5/7
18-48586184-A-G SMAD4 c.905-52A>G - IntronicSNV - 7/11
3-32881042-A-G TRIM71 c.852+20618A>G - IntronicSNV - 1/3
1-38008523-C-T SNIP1 c.328-2167G>A - IntronicSNV - 2/3
18-45417793-T-G SMAD2 c.236+5099A>C - IntronicSNV - 2/10
4-146447193-T-C SMAD1 c.400+11028T>C - IntronicSNV - 2/6
15-67036441-G-A SMAD6 c.952+27605G>A - IntronicSNV - 3/3
1-154561925-C-A ADAR c.2682G>T p.Val894Val Synonymous 9/15 -
6-152362526-T-G ESR1 c.1236-19600T>G - IntronicSNV - 5/7
20-21311906-G-A XRN2 c.577-293G>A - IntronicSNV - 6/29
15-67476768-C-T SMAD3 c.872-297C>T - IntronicSNV - 6/8
8-141621182-C-T AGO2 c.22+24402G>A - IntronicSNV - 1/18
4-146428117-A-T SMAD1 c.1-7649A>T - IntronicSNV - 1/6
3-32888065-G-C TRIM71 c.853-27245G>C - IntronicSNV - 1/3
4-146428117-A-G SMAD1 c.1-7649A>G - IntronicSNV - 1/6
10-53059406-T-C PRKG1 c.433+146316T>C - IntronicSNV - 2/17
6-152225309-C-A ESR1 c.760+23403C>A - IntronicSNV - 3/7
5-31498069-C-T DROSHA c.1669-2590G>A - IntronicSNV - 10/34
6-152364192-G-A ESR1 c.1236-17934G>A - IntronicSNV - 5/7
15-67483276-C-T SMAD3 c.*402C>T - 3-UTRSNV 9/9 -
8-141579599-A-C AGO2 c.336+3312T>G - IntronicSNV - 3/18
15-67483276-C-G SMAD3 c.*402C>G - 3-UTRSNV 9/9 -
6-43520887-A-C XPO5 c.1572+223T>G - IntronicSNV - 14/31
6-152258206-G-A ESR1 c.761-7102G>A - IntronicSNV - 3/7
20-21302565-C-T XRN2 c.76-4352C>T - IntronicSNV - 1/29
2-189842822-A-T COL3A1 c.79+3528A>T - IntronicSNV - 1/50
X-147014489-C-T FMR1 c.880+207C>T - IntronicSNV - 9/16
1-26746224-G-C LIN28A c.229-5570G>C - IntronicSNV - 2/3
17-652264-G-A GEMIN4 c.11-992C>T - IntronicSNV - 1/1
18-45383438-C-T SMAD2 c.731-5740G>A - IntronicSNV - 6/10
17-652264-G-T GEMIN4 c.11-992C>A - IntronicSNV - 1/1
18-45383438-C-G SMAD2 c.731-5740G>C - IntronicSNV - 6/10
18-45383438-C-A SMAD2 c.731-5740G>T - IntronicSNV - 6/10
4-146478543-T-C SMAD1 c.1255-400T>C - IntronicSNV - 6/6
8-141558927-G-A AGO2 c.1588+286C>T - IntronicSNV - 12/18
18-46576058-T-C DYM c.1861-5484A>G - IntronicSNV - 16/16
6-152273533-G-A ESR1 c.1096+7890G>A - IntronicSNV - 4/7
18-45431162-G-A SMAD2 c.1-8035C>T - IntronicSNV - 1/10
6-43536756-G-A XPO5 c.622-282C>T - IntronicSNV - 5/31
5-31509182-G-A DROSHA c.1433-300C>T - IntronicSNV - 8/34
12-130846358-T-C PIWIL1 c.1970+212T>C - IntronicSNV - 16/19
21-46643029-C-T ADARB1 c.*917C>T - 3-UTRSNV 12/12 -
15-67461998-C-T SMAD3 c.608-894C>T - IntronicSNV - 4/8
6-152303437-A-T ESR1 c.1097-29354A>T - IntronicSNV - 4/7
15-67461998-C-G SMAD3 c.608-894C>G - IntronicSNV - 4/8
21-46571258-A-G ADARB1 c.1-20314A>G - IntronicSNV - 2/11
6-152303437-A-G ESR1 c.1097-29354A>G - IntronicSNV - 4/7
12-130845174-A-C PIWIL1 c.1666-551A>C - IntronicSNV - 14/19
6-43509711-T-G XPO5 c.2342+4597A>C - IntronicSNV - 20/31
12-130845174-A-G PIWIL1 c.1666-551A>G - IntronicSNV - 14/19
18-45424204-G-A SMAD2 c.1-1077C>T - IntronicSNV - 1/10
6-152344670-G-A ESR1 c.1235+11741G>A - IntronicSNV - 5/7
4-146414478-C-G SMAD1 c.-177+11288C>G - intron_variant - 1/6
6-43536016-C-A XPO5 c.648+432G>T - IntronicSNV - 6/31
8-141567104-C-T AGO2 c.1026+84G>A - IntronicSNV - 8/18
6-152422524-T-A ESR1 c.*2423T>A - 3-UTRSNV 8/8 -
6-43536142-G-A XPO5 c.648+306C>T - IntronicSNV - 6/31
8-141559268-C-T AGO2 c.1533G>A p.Thr511Thr Synonymous 12/19 -
8-141559268-C-A AGO2 c.1533G>T p.Thr511Thr Synonymous 12/19 -
1-112308972-G-A DDX20 c.1926G>A p.Val642Val Synonymous 11/11 -
19-10790162-T-C ILF3 c.747+294T>C - IntronicSNV - 7/17
22-20087750-C-T DGCR8 c.1689+5432C>T - IntronicSNV - 8/12
6-43503534-G-C XPO5 c.2343-1790C>G - IntronicSNV - 20/31
6-43503534-G-A XPO5 c.2343-1790C>T - IntronicSNV - 20/31
1-112308972-G-T DDX20 c.1926G>T p.Val642Val Synonymous 11/11 -
18-45373802-A-C SMAD2 c.997+1044T>G - IntronicSNV - 8/10
20-21357644-C-T XRN2 c.2585-4988C>T - IntronicSNV - 27/29
18-45408300-G-A SMAD2 c.237-11365C>T - IntronicSNV - 2/10
3-32920894-C-T TRIM71 c.1020+5417C>T - IntronicSNV - 2/3
4-146451756-A-C SMAD1 c.401-9200A>C - IntronicSNV - 2/6
8-141622750-T-C AGO2 c.22+22834A>G - IntronicSNV - 1/18
6-41566509-G-A FOXP4 c.1857-18G>A - IntronicSNV - 16/16
3-32928938-C-G TRIM71 c.1155+1378C>G - IntronicSNV - 3/3
18-45379349-C-A SMAD2 c.731-1651G>T - IntronicSNV - 6/10
18-45396631-A-C SMAD2 c.326+215T>G - IntronicSNV - 3/10
20-21329780-T-C XRN2 c.1864-247T>C - IntronicSNV - 19/29
6-152160074-C-T ESR1 c.453-3658C>T - IntronicSNV - 1/7
8-141556513-G-A AGO2 c.1748+1054C>T - IntronicSNV - 13/18
4-146421307-T-C SMAD1 c.1-14459T>C - IntronicSNV - 1/6
6-152153107-A-G ESR1 c.453-10625A>G - IntronicSNV - 1/7
1-154565582-G-C ADAR c.2271-2697C>G - IntronicSNV - 6/14
15-29856238-G-A FAM189A1 c.219+6471C>T - IntronicSNV - 1/10
6-152302812-C-T ESR1 c.1097-29979C>T - IntronicSNV - 4/7
14-95602659-C-A DICER1 c.1-2864G>T - IntronicSNV - 3/28
15-67359061-G-A SMAD3 c.206+363G>A - IntronicSNV - 1/8
3-32927152-G-C TRIM71 c.1021-274G>C - IntronicSNV - 2/3
3-32920894-C-G TRIM71 c.1020+5417C>G - IntronicSNV - 2/3
6-152271066-G-C ESR1 c.1096+5423G>C - IntronicSNV - 4/7
19-40875800-C-T PLD3 c.430-15C>T - IntronicSNV - 6/12
19-40875800-C-G PLD3 c.430-15C>G - IntronicSNV - 6/12
21-46584503-G-A ADARB1 c.1-7069G>A - IntronicSNV - 1/11
4-146405601-G-A SMAD1 c.-177+2411G>A - intron_variant - 1/6
4-146440796-T-C SMAD1 c.400+4631T>C - IntronicSNV - 2/6
4-146440796-T-G SMAD1 c.400+4631T>G - IntronicSNV - 2/6
6-43513264-C-T XPO5 c.2342+1044G>A - IntronicSNV - 20/31
18-45373802-A-T SMAD2 c.997+1044T>A - IntronicSNV - 8/10
22-20086737-T-C DGCR8 c.1689+4419T>C - IntronicSNV - 8/12
15-67366833-T-A SMAD3 c.206+8135T>A - IntronicSNV - 1/8
18-45421434-C-T SMAD2 c.236+1458G>A - IntronicSNV - 2/10
20-21324522-A-G XRN2 c.1411-206A>G - IntronicSNV - 15/29
14-95554455-A-G DICER1 c.*2380T>C - 3-UTRSNV 29/29 -
21-46599024-G-T ADARB1 c.964-1221G>T - IntronicSNV - 4/11
20-21293884-C-T XRN2 c.75+9773C>T - IntronicSNV - 1/29
20-21365463-G-A XRN2 c.2649-2043G>A - IntronicSNV - 28/29
21-46601536-C-T ADARB1 c.1079-964C>T - IntronicSNV - 5/11
8-141555862-A-C AGO2 c.1749-1460T>G - IntronicSNV - 13/18
6-152197152-C-T ESR1 c.644-4638C>T - IntronicSNV - 2/7
1-112305842-A-G DDX20 c.1312+213A>G - IntronicSNV - 10/10
4-172896480-A-C GALNTL6 c.138+160611A>C - IntronicSNV - 2/12
18-45402537-T-C SMAD2 c.237-5602A>G - IntronicSNV - 2/10
18-45402537-T-A SMAD2 c.237-5602A>T - IntronicSNV - 2/10
6-152176058-A-G ESR1 c.643+12136A>G - IntronicSNV - 2/7
6-43504412-G-C XPO5 c.2343-2668C>G - IntronicSNV - 20/31
1-26753271-T-C LIN28A c.*322T>C - 3-UTRSNV 4/4 -
12-1029240-G-C RAD52 c.544-3254C>G - IntronicSNV - 7/11
17-66420592-A-G WIPI1 c.1293+1624T>C - IntronicSNV - 12/12
6-152340671-G-A ESR1 c.1235+7742G>A - IntronicSNV - 5/7
6-152362509-G-A ESR1 c.1236-19617G>A - IntronicSNV - 5/7
7-1062599-T-C C7orf50 c.130-12820A>G - IntronicSNV - 2/4
18-45359664-T-C SMAD2 c.*8534A>G - 3-UTRSNV 11/11 -
15-67074170-C-G SMAD6 c.*297C>G - 3-UTRSNV 4/4 -
15-67449891-G-C SMAD3 c.207-7342G>C - IntronicSNV - 1/8
7-100478320-C-G SRRT c.122-586C>G - intron_variant - 2/19
3-32883581-G-A TRIM71 c.852+23157G>A - IntronicSNV - 1/3
20-21332449-A-T XRN2 c.1936+2350A>T - IntronicSNV - 20/29
5-31514461-G-A DROSHA c.1290+634C>T - IntronicSNV - 7/34
18-45431781-C-A SMAD2 c.1-8654G>T - IntronicSNV - 1/10
X-147011480-G-T FMR1 c.433G>T p.Ala145Ser Missense 6/17 -
12-1029240-G-A RAD52 c.544-3254C>T - IntronicSNV - 7/11
20-21288763-T-C XRN2 c.75+4652T>C - IntronicSNV - 1/29
6-43519908-C-T XPO5 c.1573-718G>A - IntronicSNV - 14/31
18-45416098-C-T SMAD2 c.236+6794G>A - IntronicSNV - 2/10
18-45408300-G-C SMAD2 c.237-11365C>G - IntronicSNV - 2/10
3-32887180-A-G TRIM71 c.852+26756A>G - IntronicSNV - 1/3
5-31495071-G-A DROSHA c.1755+322C>T - IntronicSNV - 11/34
20-21288771-C-T XRN2 c.75+4660C>T - IntronicSNV - 1/29
20-21353479-G-C XRN2 c.2584+4251G>C - IntronicSNV - 27/29
18-45410742-G-A SMAD2 c.236+12150C>T - IntronicSNV - 2/10
15-67048578-A-C SMAD6 c.953-24757A>C - IntronicSNV - 3/3
4-146478467-C-T SMAD1 c.1255-476C>T - IntronicSNV - 6/6
4-146478467-C-G SMAD1 c.1255-476C>G - IntronicSNV - 6/6
22-20082566-C-T DGCR8 c.1689+248C>T - IntronicSNV - 8/12
4-146448024-C-T SMAD1 c.400+11859C>T - IntronicSNV - 2/6
15-67067676-A-T SMAD6 c.953-5659A>T - IntronicSNV - 3/3
8-141620611-C-T AGO2 c.22+24973G>A - IntronicSNV - 1/18
20-21313444-T-G XRN2 c.858+366T>G - IntronicSNV - 9/29
21-46548245-T-G ADARB1 c.-219-72T>G - intron_variant - 1/11
X-147024262-T-C FMR1 c.1276-389T>C - IntronicSNV - 13/16
12-130844606-C-T PIWIL1 c.1666-1119C>T - IntronicSNV - 14/19
20-21363959-G-C XRN2 c.2648+1264G>C - IntronicSNV - 28/29
4-146478332-G-A SMAD1 c.1255-611G>A - IntronicSNV - 6/6
18-45435076-A-G SMAD2 c.1-11949T>C - IntronicSNV - 1/10
15-93447631-T-G CHD2 c.62+3102T>G - IntronicSNV - 2/38
18-45379164-G-A SMAD2 c.731-1466C>T - IntronicSNV - 6/10
12-1028307-T-C RAD52 c.544-2321A>G - IntronicSNV - 7/11
14-95581664-G-A DICER1 c.1907+340C>T - IntronicSNV - 13/28
18-46454139-A-G SMAD7 c.743-5859T>C - IntronicSNV - 3/3
18-46454139-A-C SMAD7 c.743-5859T>G - IntronicSNV - 3/3
X-146998490-C-T FMR1 c.51+4742C>T - IntronicSNV - 1/16
8-141592657-T-C AGO2 c.215+2561A>G - IntronicSNV - 2/18
8-141592657-T-A AGO2 c.215+2561A>T - IntronicSNV - 2/18
20-21307754-C-T XRN2 c.315+515C>T - IntronicSNV - 3/29
1-112307792-T-C DDX20 c.1313-567T>C - IntronicSNV - 10/10
6-43506932-T-C XPO5 c.2343-5188A>G - IntronicSNV - 20/31
8-10682905-C-T PINX1 c.394+757G>A - IntronicSNV - 5/6
7-24958569-C-T OSBPL3 c.1-26478G>A - IntronicSNV - 1/22
8-141570751-C-T AGO2 c.519-142G>A - IntronicSNV - 4/18
18-45443785-T-C SMAD2 c.-54+12947A>G - intron_variant - 1/10
3-32924822-A-T TRIM71 c.1021-2604A>T - IntronicSNV - 2/3
8-141578652-G-A AGO2 c.336+4259C>T - IntronicSNV - 3/18
1-226554341-C-T PARP1 c.2407-588G>A - IntronicSNV - 17/22
1-226595256-C-T PARP1 c.120+255G>A - IntronicSNV - 1/22
18-46457128-C-T SMAD7 c.743-8848G>A - IntronicSNV - 3/3
21-46629006-G-A ADARB1 c.1867+4355G>A - IntronicSNV - 10/11
18-46453463-T-A SMAD7 c.743-5183A>T - IntronicSNV - 3/3
6-152291287-G-T ESR1 c.1096+25644G>T - IntronicSNV - 4/7
6-43526029-G-A XPO5 c.1312+209C>T - IntronicSNV - 12/31
18-46452174-T-C SMAD7 c.743-3894A>G - IntronicSNV - 3/3
1-154570660-C-T ADAR c.1786-208G>A - IntronicSNV - 3/14
6-152193799-G-A ESR1 c.644-7991G>A - IntronicSNV - 2/7
6-152134067-A-G ESR1 c.452+4568A>G - IntronicSNV - 1/7
18-45380449-T-C SMAD2 c.731-2751A>G - IntronicSNV - 6/10
6-152399776-C-T ESR1 c.1370-15744C>T - IntronicSNV - 6/7
6-152196391-C-T ESR1 c.644-5399C>T - IntronicSNV - 2/7
6-152301000-T-A ESR1 c.1097-31791T>A - IntronicSNV - 4/7
10-115933905-C-T CCDC186 c.-193G>A - 5_prime_UTR_variant 1/16 -
14-95607179-T-C DICER1 c.-146-83A>G - intron_variant - 2/28
1-154568683-T-G ADAR c.2270+598A>C - IntronicSNV - 6/14
15-67476735-G-A SMAD3 c.872-330G>A - IntronicSNV - 6/8
15-67476735-G-C SMAD3 c.872-330G>C - IntronicSNV - 6/8
3-32924822-A-G TRIM71 c.1021-2604A>G - IntronicSNV - 2/3
12-130822822-G-A PIWIL1 c.-13+131G>A - intron_variant - 1/19
15-67011946-T-G SMAD6 c.952+3110T>G - IntronicSNV - 3/3
1-226595256-C-G PARP1 c.120+255G>C - IntronicSNV - 1/22
18-45360991-A-G SMAD2 c.*7207T>C - 3-UTRSNV 11/11 -
8-19816371-T-C LPL c.1019-400T>C - IntronicSNV - 6/9
18-46453463-T-C SMAD7 c.743-5183A>G - IntronicSNV - 3/3
6-152291287-G-A ESR1 c.1096+25644G>A - IntronicSNV - 4/7
8-141572883-C-T AGO2 c.337-150G>A - IntronicSNV - 3/18
18-48609058-G-T SMAD4 c.*4221G>T - 3-UTRSNV 12/12 -
12-104324266-G-A HSP90B1 c.1-28G>A - 5-UTRSNV 1/18 -
19-6418195-T-A KHSRP c.880-105A>T - IntronicSNV - 9/19
18-45401247-T-C SMAD2 c.237-4312A>G - IntronicSNV - 2/10
1-226595377-C-G PARP1 c.120+134G>C - IntronicSNV - 1/22
21-46519041-G-A ADARB1 c.-220+24333G>A - intron_variant - 1/11
17-650518-G-A GEMIN4 c.765C>T p.Asp255Asp Synonymous 2/2 -
5-150901699-C-T FAT2 c.10507-52G>A - IntronicSNV - 17/22
6-152278300-C-A ESR1 c.1096+12657C>A - IntronicSNV - 4/7
X-147012286-T-C FMR1 c.630+523T>C - IntronicSNV - 7/16
6-152275408-G-A ESR1 c.1096+9765G>A - IntronicSNV - 4/7
12-54678110-G-T HNRNPA1 c.*13G>T - IntronicSNV - 10/10
18-45431443-T-C SMAD2 c.1-8316A>G - IntronicSNV - 1/10
12-54678110-G-A HNRNPA1 c.*13G>A - IntronicSNV - 10/10
20-21340106-C-T XRN2 c.2255+1676C>T - IntronicSNV - 24/29
1-154579585-T-C ADAR c.15+883A>G - IntronicSNV - 1/14
15-67401746-G-C SMAD3 c.206+43048G>C - IntronicSNV - 1/8
15-67371535-C-G SMAD3 c.206+12837C>G - IntronicSNV - 1/8
15-67371535-C-T SMAD3 c.206+12837C>T - IntronicSNV - 1/8
1-154578391-T-C ADAR c.15+2077A>G - IntronicSNV - 1/14
20-21299662-T-C XRN2 c.76-7255T>C - IntronicSNV - 1/29
5-31526371-T-C DROSHA c.669A>G p.Glu223Glu Synonymous 4/35 -
3-32870834-A-G TRIM71 c.852+10410A>G - IntronicSNV - 1/3
3-32870834-A-T TRIM71 c.852+10410A>T - IntronicSNV - 1/3
19-40875811-G-A PLD3 c.430-4G>A - IntronicSNV - 6/12
1-38012153-C-T SNIP1 c.328-5797G>A - IntronicSNV - 2/3
19-40875811-G-T PLD3 c.430-4G>T - IntronicSNV - 6/12
1-38013823-C-A SNIP1 c.327+4423G>T - IntronicSNV - 2/3
5-31514367-C-G DROSHA c.1290+728G>C - IntronicSNV - 7/34
20-21365412-G-C XRN2 c.2649-2094G>C - IntronicSNV - 28/29
12-1039335-A-G RAD52 c.187-25T>C - IntronicSNV - 3/11
21-46559349-G-A ADARB1 c.-48+10861G>A - intron_variant - 2/11
1-237634431-A-G RYR2 c.1708+1944A>G - IntronicSNV - 17/104
17-56080248-C-A SRSF1 c.*2519G>T - 3-UTRSNV 4/4 -
18-45391419-A-C SMAD2 c.730+11T>G - IntronicSNV - 6/10
8-141553615-C-T AGO2 c.1839+697G>A - IntronicSNV - 14/18
6-152415193-A-G ESR1 c.1370-327A>G - IntronicSNV - 6/7
18-45426765-T-G SMAD2 c.1-3638A>C - IntronicSNV - 1/10
14-95613524-G-A DICER1 c.-212-5439C>T - intron_variant - 1/28
22-20071652-T-G DGCR8 c.1-1835T>G - IntronicSNV - 1/12
14-95586010-G-T DICER1 c.1377-1919C>A - IntronicSNV - 10/28
6-43502954-G-A XPO5 c.2343-1210C>T - IntronicSNV - 20/31
5-31498214-G-C DROSHA c.1669-2735C>G - IntronicSNV - 10/34
15-67371244-C-T SMAD3 c.206+12546C>T - IntronicSNV - 1/8
18-45371509-C-T SMAD2 c.1280+202G>A - IntronicSNV - 10/10
15-67388684-A-G SMAD3 c.206+29986A>G - IntronicSNV - 1/8
20-21362976-G-A XRN2 c.2648+281G>A - IntronicSNV - 28/29
18-45404934-C-G SMAD2 c.237-7999G>C - IntronicSNV - 2/10
14-95601698-A-G DICER1 c.1-1903T>C - IntronicSNV - 1/28
12-1028011-T-C RAD52 c.544-2025A>G - IntronicSNV - 7/11
3-32912647-A-G TRIM71 c.853-2663A>G - IntronicSNV - 1/3
20-21313839-C-T XRN2 c.859-343C>T - IntronicSNV - 9/29
6-43537820-C-T XPO5 c.621+419G>A - IntronicSNV - 5/31
15-67048281-C-T SMAD6 c.953-25054C>T - IntronicSNV - 3/3
6-43537820-C-G XPO5 c.621+419G>C - IntronicSNV - 5/31
6-43537820-C-A XPO5 c.621+419G>T - IntronicSNV - 5/31
15-67414425-A-G SMAD3 c.207-42808A>G - IntronicSNV - 1/8
6-152238774-A-G ESR1 c.761-26534A>G - IntronicSNV - 3/7
15-67049597-C-T SMAD6 c.953-23738C>T - IntronicSNV - 3/3
21-46499474-G-A ADARB1 c.-220+4766G>A - intron_variant - 1/11
1-154556040-T-G ADAR c.*1242A>C - 3-UTRSNV 15/15 -
12-1026022-G-T RAD52 c.544-36C>A - IntronicSNV - 7/11
12-1040952-G-A RAD52 c.85-465C>T - IntronicSNV - 2/11
12-1056454-T-G RAD52 c.-19+2314A>C - intron_variant - 1/11
12-1056454-T-A RAD52 c.-19+2314A>T - intron_variant - 1/11
18-45387584-G-A SMAD2 c.730+3846C>T - IntronicSNV - 6/10
18-45387584-G-C SMAD2 c.730+3846C>G - IntronicSNV - 6/10
1-226595647-C-G PARP1 c.1-17G>C - 5-UTRSNV 1/23 -
4-146404246-G-A SMAD1 c.-177+1056G>A - intron_variant - 1/6
15-67394019-G-A SMAD3 c.206+35321G>A - IntronicSNV - 1/8
15-67410060-G-A SMAD3 c.207-47173G>A - IntronicSNV - 1/8
6-152368129-C-T ESR1 c.1236-13997C>T - IntronicSNV - 5/7
18-45416561-C-T SMAD2 c.236+6331G>A - IntronicSNV - 2/10
18-45435132-A-G SMAD2 c.1-12005T>C - IntronicSNV - 1/10
3-32931220-T-C TRIM71 c.1156-632T>C - IntronicSNV - 3/3
1-38011786-G-C SNIP1 c.328-5430C>G - IntronicSNV - 2/3
X-147019964-G-C FMR1 c.1188+284G>C - IntronicSNV - 12/16
20-21300704-C-A XRN2 c.76-6213C>A - IntronicSNV - 1/29
21-46583829-C-T ADARB1 c.1-7743C>T - IntronicSNV - 2/11
12-1036042-C-T RAD52 c.467+269G>A - IntronicSNV - 6/11
15-67405582-G-C SMAD3 c.206+46884G>C - IntronicSNV - 1/8
15-67405582-G-A SMAD3 c.206+46884G>A - IntronicSNV - 1/8
18-45377140-C-A SMAD2 c.784+505G>T - IntronicSNV - 7/10
6-152407919-T-C ESR1 c.1370-7601T>C - IntronicSNV - 6/7
20-21333189-G-A XRN2 c.1937-2238G>A - IntronicSNV - 20/29
12-1033554-C-T RAD52 c.543+1062G>A - IntronicSNV - 7/11
16-88535341-G-A ZFPM1 c.40+15255G>A - IntronicSNV - 1/9
14-95621649-G-C DICER1 c.-213+2619C>G - intron_variant - 1/28
7-100478025-G-A SRRT c.122-881G>A - intron_variant - 2/19
12-7942126-C-T NANOG c.1-85C>T - 5-UTRSNV 1/4 -
1-154577008-T-G ADAR c.16-1906A>C - IntronicSNV - 1/14
21-46499483-G-A ADARB1 c.-220+4775G>A - intron_variant - 1/11
4-146478543-T-G SMAD1 c.1255-400T>G - IntronicSNV - 6/6
5-31412288-G-C DROSHA c.3526-1294C>G - IntronicSNV - 29/34
21-46496949-T-C ADARB1 c.-220+2241T>C - intron_variant - 1/11
X-147019964-G-T FMR1 c.1188+284G>T - IntronicSNV - 12/16
15-67446476-A-T SMAD3 c.207-10757A>T - IntronicSNV - 1/8
8-141617131-C-T AGO2 c.23-21721G>A - IntronicSNV - 1/18
20-21290602-C-T XRN2 c.75+6491C>T - IntronicSNV - 1/29
15-67405582-G-T SMAD3 c.206+46884G>T - IntronicSNV - 1/8
4-146437641-T-C SMAD1 c.400+1476T>C - IntronicSNV - 2/6
14-95555962-C-T DICER1 c.*873G>A - 3-UTRSNV 29/29 -
18-46454048-A-G SMAD7 c.743-5768T>C - IntronicSNV - 3/3
12-1031646-C-G RAD52 c.543+2970G>C - IntronicSNV - 7/11
18-45377140-C-T SMAD2 c.784+505G>A - IntronicSNV - 7/10
18-45393779-A-T SMAD2 c.655+915T>A - IntronicSNV - 5/10
8-141620611-C-G AGO2 c.22+24973G>C - IntronicSNV - 1/18
6-152335215-C-T ESR1 c.1235+2286C>T - IntronicSNV - 5/7
6-152140209-A-G ESR1 c.452+10710A>G - IntronicSNV - 1/7
15-67041805-C-G SMAD6 c.953-31530C>G - IntronicSNV - 3/3
8-141570942-T-C AGO2 c.519-333A>G - IntronicSNV - 4/18
1-154578321-A-G ADAR c.15+2147T>C - IntronicSNV - 1/14
18-48583384-A-G SMAD4 c.668-1111A>G - IntronicSNV - 5/11
6-152297649-T-C ESR1 c.1096+32006T>C - IntronicSNV - 4/7
21-46590755-A-C ADARB1 c.1-817A>C - IntronicSNV - 1/11
6-152318226-A-C ESR1 c.1097-14565A>C - IntronicSNV - 4/7
18-48583384-A-C SMAD4 c.668-1111A>C - IntronicSNV - 5/11
12-1022392-A-G RAD52 c.*165T>C - 3-UTRSNV 12/12 -
5-31442624-A-G DROSHA c.2883-5219T>C - IntronicSNV - 22/34
15-67049168-G-A SMAD6 c.953-24167G>A - IntronicSNV - 3/3
18-45379174-C-T SMAD2 c.731-1476G>A - IntronicSNV - 6/10
19-6414600-G-A KHSRP c.2128-469C>T - IntronicSNV - 19/19
12-7943101-G-T NANOG c.151+740G>T - IntronicSNV - 1/3
X-146995450-T-C FMR1 c.51+1702T>C - IntronicSNV - 1/16
12-1058053-C-G RAD52 c.-19+715G>C - intron_variant - 1/11
4-146451780-C-A SMAD1 c.401-9176C>A - IntronicSNV - 2/6
12-131358889-T-G RAN c.248-202T>G - IntronicSNV - 4/6
3-32881449-A-G TRIM71 c.852+21025A>G - IntronicSNV - 1/3
6-152346318-T-G ESR1 c.1235+13389T>G - IntronicSNV - 5/7
18-45417793-T-A SMAD2 c.236+5099A>T - IntronicSNV - 2/10
6-43543672-C-T XPO5 c.1-71G>A - 5-UTRSNV 1/32 -
21-46589932-T-C ADARB1 c.1-1640T>C - IntronicSNV - 1/11
1-26747429-T-C LIN28A c.229-4365T>C - IntronicSNV - 2/3
3-32883083-G-C TRIM71 c.852+22659G>C - IntronicSNV - 1/3
12-130841083-A-G PIWIL1 c.1405-380A>G - IntronicSNV - 12/19
5-31478424-C-A DROSHA c.2071+5237G>T - IntronicSNV - 15/34
6-43539638-G-A XPO5 c.300+605C>T - IntronicSNV - 3/31
15-67365712-C-A SMAD3 c.206+7014C>A - IntronicSNV - 1/8
19-6423039-C-T KHSRP c.250-592G>A - IntronicSNV - 1/19
15-67407252-A-G SMAD3 c.206+48554A>G - IntronicSNV - 1/8
X-146999764-T-A FMR1 c.52-3687T>A - IntronicSNV - 1/16
15-67446785-G-T SMAD3 c.207-10448G>T - IntronicSNV - 1/8
18-45379174-C-G SMAD2 c.731-1476G>C - IntronicSNV - 6/10
15-67437209-C-T SMAD3 c.207-20024C>T - IntronicSNV - 1/8
1-154559036-G-C ADAR c.3020-197C>G - IntronicSNV - 11/14
12-1058053-C-T RAD52 c.-19+715G>A - intron_variant - 1/11
4-146451780-C-T SMAD1 c.401-9176C>T - IntronicSNV - 2/6
18-46451146-G-A SMAD7 c.743-2866C>T - IntronicSNV - 3/3
6-43498950-C-T XPO5 c.2540+267G>A - IntronicSNV - 22/31
15-67419857-A-G SMAD3 c.207-37376A>G - IntronicSNV - 1/8
20-21307696-G-C XRN2 c.315+457G>C - IntronicSNV - 3/29
6-43535273-A-G XPO5 c.649-182T>C - IntronicSNV - 6/31
6-152141383-G-A ESR1 c.452+11884G>A - IntronicSNV - 1/7
6-152141383-G-C ESR1 c.452+11884G>C - IntronicSNV - 1/7
6-43504027-C-T XPO5 c.2343-2283G>A - IntronicSNV - 20/31
18-46462653-T-C SMAD7 c.742+6198A>G - IntronicSNV - 3/3
21-46609629-A-G ADARB1 c.1685+4623A>G - IntronicSNV - 9/11
18-45387666-G-T SMAD2 c.730+3764C>A - IntronicSNV - 6/10
18-45380292-C-T SMAD2 c.731-2594G>A - IntronicSNV - 6/10
18-45421618-T-C SMAD2 c.236+1274A>G - IntronicSNV - 2/10
18-45421618-T-A SMAD2 c.236+1274A>T - IntronicSNV - 2/10
14-95623178-T-A DICER1 c.-213+1090A>T - intron_variant - 1/28
3-32887100-A-T TRIM71 c.852+26676A>T - IntronicSNV - 1/3
14-95592185-A-G DICER1 c.903+732T>C - IntronicSNV - 9/28
4-146423686-A-C SMAD1 c.1-12080A>C - IntronicSNV - 1/6
8-141580966-T-C AGO2 c.336+1945A>G - IntronicSNV - 3/18
4-146423686-A-G SMAD1 c.1-12080A>G - IntronicSNV - 1/6
22-20093317-A-G DGCR8 c.1690-383A>G - IntronicSNV - 8/12
15-67476952-G-T SMAD3 c.872-113G>T - IntronicSNV - 6/8
6-43500948-A-C XPO5 c.2443+696T>G - IntronicSNV - 21/31
6-43500948-A-G XPO5 c.2443+696T>C - IntronicSNV - 21/31
20-21285091-C-T XRN2 c.75+980C>T - IntronicSNV - 1/29
6-43504639-T-C XPO5 c.2343-2895A>G - IntronicSNV - 20/31
17-649164-G-A GEMIN4 c.2119C>T p.Arg707Cys Missense 2/2 -
18-46467239-G-A SMAD7 c.742+1612C>T - IntronicSNV - 3/3
5-31528200-A-G DROSHA c.20+947T>C - IntronicSNV - 3/34
5-31518910-C-T DROSHA c.947+2320G>A - IntronicSNV - 5/34
7-132719655-G-C CHCHD3 c.170-10268C>G - IntronicSNV - 2/7
12-1032405-A-C RAD52 c.543+2211T>G - IntronicSNV - 7/11
18-45405335-G-A SMAD2 c.237-8400C>T - IntronicSNV - 2/10
6-152307142-T-G ESR1 c.1097-25649T>G - IntronicSNV - 4/7
1-154557685-C-T ADAR c.3443+8G>A - IntronicSNV - 14/14
5-31478171-T-C DROSHA c.2071+5490A>G - IntronicSNV - 15/34
4-146406505-G-A SMAD1 c.-177+3315G>A - intron_variant - 1/6
18-45388421-G-T SMAD2 c.730+3009C>A - IntronicSNV - 6/10
5-31514461-G-C DROSHA c.1290+634C>G - IntronicSNV - 7/34
6-152188420-A-G ESR1 c.644-13370A>G - IntronicSNV - 2/7
18-45448872-G-C SMAD2 c.-54+7860C>G - intron_variant - 1/10
5-31518910-C-A DROSHA c.947+2320G>T - IntronicSNV - 5/34
15-67036062-T-C SMAD6 c.952+27226T>C - IntronicSNV - 3/3
18-45434663-A-C SMAD2 c.1-11536T>G - IntronicSNV - 1/10
5-31514127-C-T DROSHA c.1290+968G>A - IntronicSNV - 7/34
5-31467952-A-G DROSHA c.2366+94T>C - IntronicSNV - 17/34
15-67486078-G-A SMAD3 c.*3204G>A - 3-UTRSNV 9/9 -
18-45418978-G-A SMAD2 c.236+3914C>T - IntronicSNV - 2/10
6-152422335-C-T ESR1 c.*2234C>T - 3-UTRSNV 8/8 -
21-46562167-G-T ADARB1 c.-48+13679G>T - intron_variant - 2/11
6-43537825-G-A XPO5 c.621+414C>T - IntronicSNV - 5/31
22-20085573-C-G DGCR8 c.1689+3255C>G - IntronicSNV - 8/12
14-95600006-G-C DICER1 c.1-211C>G - IntronicSNV - 3/28
20-21332449-A-G XRN2 c.1936+2350A>G - IntronicSNV - 20/29
6-152151863-T-C ESR1 c.453-11869T>C - IntronicSNV - 1/7
6-43514046-T-C XPO5 c.2342+262A>G - IntronicSNV - 20/31
6-152151863-T-A ESR1 c.453-11869T>A - IntronicSNV - 1/7
3-32861556-G-T TRIM71 c.852+1132G>T - IntronicSNV - 1/3
18-45436594-T-C SMAD2 c.1-13467A>G - IntronicSNV - 1/10
6-43537877-G-A XPO5 c.621+362C>T - IntronicSNV - 5/31
22-20093126-T-C DGCR8 c.1690-574T>C - IntronicSNV - 8/12
1-151518284-T-G TUFT1 c.60+5382T>G - IntronicSNV - 1/12
6-152274190-G-T ESR1 c.1096+8547G>T - IntronicSNV - 4/7
15-67396779-G-A SMAD3 c.206+38081G>A - IntronicSNV - 1/8
14-95613524-G-T DICER1 c.-212-5439C>A - intron_variant - 1/28
6-152255606-A-T ESR1 c.761-9702A>T - IntronicSNV - 3/7
6-152274190-G-A ESR1 c.1096+8547G>A - IntronicSNV - 4/7