Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GPAT3_chr4_83531108_83610875	83578943	TTTTCTTT others(68): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	334	0.0030	-75	c.209 others(92): Show c.209-2611_209-2537delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCCTTTCTTT		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPC5_chr13_91393621_92872237	92527184	AGAAAGAA others(68): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	42	0.0238	-75	c.156 others(98): Show c.1562-339097_1562-339023delGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAG		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7						chr13	TogoVar
GRP_chr18_59215158_59235771	59234499	TATAACAT others(68): Show TATAACATATTATACATACCATGGTATATATATAATATAACATATTATAC ATACCATGGTATATATATTATATAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	408	0.0025	-75	c.40 others(86): Show c.4032_*4106delATAACATATTATACATACCATGGTATATATATAA TATAACATATTATACATACCATGGTATATATATTATATAAC		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3729		chr18	TogoVar
HCN1_chr5_45249948_45701380	45372772	ACGTATTC others(68): Show ACGTATTCTATACACAAAAATATTTACGTATTCTATACACAAATATATGT ACGTATTCTATACAGAAAAATATGTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG03139.hp1 HG02055.hp2 HG02257.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226	3	226	0.0133	-75	c.123 others(96): Show c.1231-19601_1231-19527delAACATATTTTTCTGTATAGAATAC GTACATATATTTGTGTATAGAATACGTAAATATTTTTGTGTATAGAATAC G		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HMOX1_chr22_35376096_35399207	35389320	TTCTTTCT others(68): Show TTCTTTCTTTCTTTCTTTCTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	384	0.0026	-75	c.637 others(90): Show c.637-543_637-469delTCTTTCTTTCTTTCTTTCTTCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4						chr22	TogoVar
HOMER1_chr5_79367636_79519134	79427678	CTTCCTTC others(68): Show CTTCCTTCCCTTCCTTCCTTTCCTTCCTTCCTTTCCTTCCCTTCCTTCCT TCCCTTCCTTCCTTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG03540.hp2 HG02258.hp1 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0029 a0001c0001t0018 a0001c0001t0029	a0001c0001t0018g0053 a0001c0001t0018g0069 a0001c0001t0029g0079 a0001c0001t0018g0053 a0001c0001t0018g0069 a0001c0001t0029g0079	3	290	0.0103	-75	c.527 others(94): Show c.527+11257_527+11331delAGGAAGGAAGGAAAGGAAGGAAGGGA AGGAAGGAAGGGAAGGAAAGGAAGGAAGGAAAGGAAGGAAGGGAAGGAA		HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	5/8						chr5	TogoVar
HSD17B14_chr19_48808018_48841491	48834564	GAGCCTGG others(68): Show GAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAAGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0324 a0002c0002t0001g0324	1	394	0.0025	-75	c.128 others(90): Show c.128-281_128-207delTCCCAGCCCTTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCT		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
IGLON5_chr19_51306644_51335891	51310414	CCTCCTGG others(68): Show CCTCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGGGCCTGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp2 HG04199.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0013g0004 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0013g0004	3	418	0.0072	-75	c.-14 others(86): Show c.-1433_-1359delCTCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA		IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding					1229		chr19	TogoVar
INF2_chr14_104684618_104727535	104717265	ACCGGGCA others(68): Show ACCGGGCAGGGTGCGCTGCCGTCCTCCCAGTCCCCCCCCCGGGCAGGGCG CGCTGCCGTCCTCCTAGTCCGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02976.hp2 HG03486.hp1 others(1): Show HG00639.hp1 HG02976.hp2 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0058 a0001c0001t0026 a0001c0002t0058	a0001c0001t0026g0018 a0001c0002t0058g0117 a0001c0001t0026g0018 a0001c0002t0058g0117	4	380	0.0105	-75	c.2- others(90): Show c.2-1492_*2-1418delCCGGGCAGGGCGCGCTGCCGTCCTCCTAGT CCGCCCCCCCGGGCAGGGTGCGCTGCCGTCCTCCCAGTCCCCCCC		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
INPP5A_chr10_132532787_132788480	132637331	ATAAGTGC others(68): Show ATAAGTGCGGGTCTTTTTCTGTTTTGAAGTTTTCCTGGGTTATAGTTTTA AATGTTAGGTGTTTCAGGTGAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(4): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0010g0047 a0001c0001t0010g0048	7	204	0.0343	-75	c.118 others(92): Show c.118-8472_118-8398delAGGTGAGTGTGTAAGTGCGGGTCTTTTT CTGTTTTGAAGTTTTCCTGGGTTATAGTTTTAAATGTTAGGTGTTTC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132723527	ATGTGGGG others(68): Show ATGTGGGGATTGGCCGTGTGGGGATTGGCCGTGTGGGGATTGGCCATGTG GGGATTGGCCGTGTGGGGATTGGTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01081.hp2 HG01192.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0012 a0001c0001t0002 a0002c0002t0012	a0001c0001t0002g0042 a0002c0002t0012g0066 a0001c0001t0002g0042 a0002c0002t0012g0066	2	204	0.0098	-75	c.648 others(92): Show c.648-3266_648-3192delCCGTGTGGGGATTGGCCATGTGGGGATT GGCCGTGTGGGGATTGGTTTTGTGGGGATTGGCCGTGTGGGGATTGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INSIG2_chr2_118083471_118115997	118092946	TGAGGAGG others(68): Show TGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAA AGCAACCAGATGATGATGATGAGGAG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	440	0.0023	-75	c.-13 others(94): Show c.-138-3427_-138-3353delTAAAAGCAACCAGATGATGATGATGA GGAGGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGC		INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
IPCEF1_chr6_154149496_154361803	154357847	TAAAATAT others(68): Show TAAAATATATATATAAAATATATATATATATAAAATATATATATATAATA TATATATAAAATATATATATATAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02630.hp1 others(1): Show HG02559.hp2 HG02572.hp2 HG02630.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0007t0018 a0002c0003t0008 a0001c0001t0001 a0001c0007t0018 a0002c0003t0008	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0007t0018g0178 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0007t0018g0178 a0002c0003t0008g0166	4	264	0.0152	-75	c.-13 others(86): Show c.-1312_-1238delTATTATATATATATATTTTATATATATATTATAT ATATATATTTTATATATATATATATTTTATATATATATTTT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding					1045		chr6	TogoVar
IQCA1_chr2_236319151_236512476	236491138	TACAGTAT others(68): Show TACAGTATATATATACACACAGTATATATATATATATATATATACACACA GTATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01106.hp2 others(4): Show HG00639.hp2 HG00735.hp2 HG01106.hp2 HG01993.hp2 HG02451.hp1 HG03239.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0004 a0004c0010t0001 a0001c0001t0001 a0001c0001t0004 a0004c0010t0001	a0001c0001t0001g0097 a0001c0001t0001g0133 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0097 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0004g0031 a0004c0010t0001g0137	7	208	0.0337	-75	c.456 others(92): Show c.456+2555_456+2629delGTATATATATATATATATATATATACTG TGTGTATATATATATATATATATATACTGTGTGTATATATATACTGT		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18						chr2	TogoVar
IQCG_chr3_197884077_197964991	197904036	ATACATAT others(68): Show ATACATATATATACATACATATATATATATACATACATATATATATACAT ACATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	280	0.0036	-75	c.963 others(92): Show c.963+8564_963+8638delATATATATATATATATATATATATGTAT GTATATATATATGTATGTATATATATATATGTATGTATATATATGTA		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11						chr3	TogoVar
IQCG_chr3_197884077_197964991	197904038	ACATATAT others(68): Show ACATATATATACATACATATATATATATACATACATATATATATACATAC ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	280	0.0036	-75	c.963 others(92): Show c.963+8562_963+8636delAAATATATATATATATATATATATATGT ATGTATATATATATGTATGTATATATATATATGTATGTATATATATG		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11						chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132061190	CGGCGCAC others(68): Show CGGCGCACACACACACCTGCCGTGACGGCGCACACATACACCTGCCGTGA CGGCGCACACACACACCTGCCGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02015.hp2 HG02040.hp1 others(16): Show HG00597.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG03927.hp1 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18971.hp2 NA18983.hp2 NA19004.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0006 a0002c0023 a0003c0003 others(5): Show a0001c0006 a0002c0023 a0003c0003 a0003c0020 a0004c0007 a0004c0009 a0004c0027 a0006c0041	a0001c0006t0035 a0002c0023t0003 a0003c0003t0001 others(9): Show a0001c0006t0035 a0002c0023t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0012 a0003c0020t0003 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0027t0001 a0006c0041t0029	a0001c0006t0035g0057 a0002c0023t0003g0073 a0003c0003t0001g0064 others(16): Show a0001c0006t0035g0057 a0002c0023t0003g0073 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0002g0056 a0003c0003t0005g0072 a0003c0003t0012g0063 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0059 a0004c0009t0002g0075 a0004c0009t0010g0055 a0004c0027t0001g0066 a0006c0041t0029g0019	19	158	0.1203	-75	c.-50 others(86): Show c.-5008_-4934delGGCGCACACACACACCTGCCGTGACGGCGCACAC ATACACCTGCCGTGACGGCGCACACACACACCTGCCGTGAT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding					4755		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161134	GCCTCTCC others(68): Show GCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGG GTCTCTTCCTGTGTGATGCTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18999.hp2 NA19091.hp1 HG04228.hp1 NA18999.hp2 NA19091.hp1	a0002 a0004 a0002 a0004	a0002c0008 a0004c0007 a0002c0008 a0004c0007	a0002c0008t0018 a0004c0007t0001 a0002c0008t0018 a0004c0007t0001	a0002c0008t0018g0120 a0004c0007t0001g0108 a0004c0007t0001g0122 a0002c0008t0018g0120 a0004c0007t0001g0108 a0004c0007t0001g0122	3	158	0.0190	-75	c.222 others(94): Show c.2221-2051_2221-1977delAGCCTCTTCCTGTGTGATGCTGGGGG GTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGATGCTGGGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JMY_chr5_79231131_79332211	79270394	ATATATTT others(68): Show ATATATTTACATAAATATTTAAAATATATATTTACATAAATATTTAAAAT ATATATTTACATAAATATTTAAAATG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0034 a0003c0004t0005g0034	1	342	0.0029	-75	c.103 others(94): Show c.1033-7495_1033-7421delAAATATATATTTACATAAATATTTAA AATATATATTTACATAAATATTTAAAATGTATATTTACATAAATATTTA		JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNH7_chr2_162366407_162843767	162752903	AAAAAGAA others(68): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG02523.hp1 others(18): Show HG00735.hp2 HG01496.hp2 HG02523.hp1 HG02615.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA18977.hp2 NA18982.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0008t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0021 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0002g0001 a0001c0003t0001g0018 a0001c0003t0001g0056 a0001c0008t0001g0016 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0072 a0003c0004t0001g0019	21	100	0.2100	-75	c.307 others(94): Show c.307+83559_307+83633delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT		KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15						chr2	TogoVar
KCNIP3_chr2_95292347_95391077	95387996	CTTGTGAC others(68): Show CTTGTGACATAGTCACCCATCTGCCACAACACAAACCCCAGTTCACCATT CACCAGCTGTGTGACCTTGGGCAAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	298	0.0034	-75	c.39 others(86): Show c.3948_*4022delTTGTGACATAGTCACCCATCTGCCACAACACAAA CCCCAGTTCACCATTCACCAGCTGTGTGACCTTGGGCAAGT		KCNIP3	ENSG00000115041.14	transcript	ENST00000295225.10	protein_coding					1920		chr2	TogoVar
KDSR_chr18_63322726_63372206	63339180	AAGTTCAG others(68): Show AAGTTCAGAAAGACCCCCTTTGACTCCTCAGTGCTGGCCGGACACCTGAA TGATGGTGCTTTTCTGTAGAGGCTAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02080.hp1 others(4): Show HG00438.hp2 HG00621.hp2 HG02080.hp1 NA18747.hp1 NA18956.hp1 NA18999.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0001t0001 a0001c0001t0005 a0001c0001t0029	a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0005g0043 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0005g0043 a0001c0001t0005g0310 a0001c0001t0029g0126	7	406	0.0172	-75	c.694 others(90): Show c.694-372_694-298delCTAGCCTCTACAGAAAAGCACCATCATTCA GGTGTCCGGCCAGCACTGAGGAGTCAAAGGGGGTCTTTCTGAACT		KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	7/9						chr18	TogoVar
KLHL17_chr1_955584_970719	964631	CGGGTCCG others(68): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGATGTGCTGCCGGGAGGGGGGCG	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19085.hp2 NA18992.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	432	0.0046	-75	c.170 others(92): Show c.1700+102_1700+176delGGGTCCGCAGTGGGGATGTGCTGCCGGG AGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11						chr1	TogoVar
KLHL17_chr1_955584_970719	964661	GGGGGGCG others(68): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18960.hp2 HG03669.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0081 a0001c0001t0004g0060 a0001c0001t0001g0081 a0001c0001t0004g0060	2	432	0.0046	-75	c.170 others(92): Show c.1700+137_1700+211delCGCGGGTCCGCAGTGGGGATGTGCTGCC GGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGG		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL17_chr1_955584_970719	964699	GGGGGGCG others(68): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	432	0.0023	-75	c.170 others(92): Show c.1700+175_1701-184delCGCGGGTCCGCAGTGGGGATGTGCTGCC GGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGG		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
KRT40_chr17_40972715_40989326	40988204	GATCACTT others(68): Show GATCACTTAAGGGCAGGAGGTTGAGACCAGCCTGGCTAATATGCTGAAGG CTTGTCTCTACTAAAAATACAAAAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	451	0.0022	-75	c.-40 others(86): Show c.-4006_-3932delATTTTTGTATTTTTAGTAGAGACAAGCCTTCAGC ATATTAGCCAGGCTGGTCTCAACCTCCTGCCCTTAAGTGAT		KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding					3879		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054804	GGACTGCA others(68): Show GGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGAGG TCCTGCAGGTGGTGCTGCAAGGGGTC	G G	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0007 a0007c0017t0007	a0007c0017t0007g0000 a0007c0017t0007g0000	1	411	0.0024	-75	c.333 others(82): Show c.333_*35delGACCCCTTGCAGCACCACCTGCAGGACCTCCTCCTGCT GAGCCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTC	p.Pro others(19): Show p.Pro111_Ter124delins???	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	426/733	333/372	111/123			chr17	TogoVar
KRTAP2-3_chr17_41054240_41065114	41054804	GGACTGCA others(68): Show GGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGAGG TCCTGCAGGTGGTGCTGCAAGGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0000 a0004c0004t0007g0000	1	441	0.0023	-75	c.47 others(86): Show c.4785_*4859delGACCCCTTGCAGCACCACCTGCAGGACCTCCTCC TGCTGAGCCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTC		KRTAP2-3	ENSG00000212724.3	transcript	ENST00000391418.3	protein_coding					4435		chr17	TogoVar
KRTAP4-8_chr17_41091981_41103142	41097815	GCAGCAGG others(68): Show GCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACTGGGGCTTGCAGC AGCTGGACACACAGCAGCTGGGGCGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01516.hp1 HG01516.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0000 a0010c0012t0001g0000	1	416	0.0024	-75	c.195 others(82): Show c.195_269delTCGCCCCAGCTGCTGTGTGTCCAGCTGCTGCAAGCCCC AGTGCTGCCAGTCTGTGTGCTGCCAGCCCACCTGCTG	p.Arg others(11): Show p.Arg66_Cys90del	KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding	1/1	327/1162	195/558	65/185			chr17	TogoVar
LAMA2_chr6_128878138_129521566	129286789	TTATATAA others(68): Show TTATATAATATATAATAATATATAATATATTATATAATATATAATAATAT ATAATATATTATATAATATATAATAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0001 a0003c0051t0001	a0003c0051t0001g0008 a0003c0051t0001g0008	1	88	0.0114	-75	c.253 others(93): Show c.2538-1045_2538-971delAATAATATATAATATATTATATAATAT ATAATAATATATAATATATTATATAATATATAATAATATATAATATAT		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LCOR_chr10_96827298_97000956	96936727	CCACCCCT others(68): Show CCACCCCTGGTACCTGTGAATGTGACCTTATTTGGAAATACAGTAGTCTT CCCCCTTATAAGGGGGATGCCTGAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp1 NA18522.hp2 HG01243.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0120 a0001c0001t0032 a0001c0001t0120	a0001c0001t0032g0012 a0001c0001t0032g0013 a0001c0001t0120g0003 a0001c0001t0032g0012 a0001c0001t0032g0013 a0001c0001t0120g0003	3	288	0.0104	-75	c.-18 others(94): Show c.-183-7384_-183-7310delACCCCTGGTACCTGTGAATGTGACCT TATTTGGAAATACAGTAGTCTTCCCCCTTATAAGGGGGATGCCTGAAAC		LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC128462377_chr16_89312046_89423292	89421137	AGTGTGTG others(68): Show AGTGTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGG GGGTGGGGGTGAGACACGAAGGGTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG03130.hp2 others(2): Show HG02723.hp2 HG02896.hp1 HG03130.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 others(2): Show a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366	5	366	0.0137	-75	c.-29 others(86): Show c.-2920_-2846delCGACCCTTCGTGTCTCACCCCCACCCCCAGACAT GGACGGGTGATGGTCCCATCCCTGACTCCGTCATCACACAC		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding					2846		chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421340	TGGGGGTG others(68): Show TGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	366	0.0027	-75	c.-31 others(86): Show c.-3123_-3049delGCCCCCAGACATGGACGGGTGATGGTCCCATCCC TGACTCCGTCATCACACACCGACCCTTCGTGTCTCACCCCC		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding					3049		chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421420	GTGAGACA others(68): Show GTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGGACCAT CACCCGTCCATGTCTGGGGGTGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	366	0.0027	-75	c.-32 others(86): Show c.-3203_-3129delGCCCCACCCCCAGACATGGACGGGTGATGGTCCC ATCCCTGACTCCGTCATCACACACCGACCCTTCGTGTCTCA		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding					3129		chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421445	ATGACGGA others(68): Show ATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGGTGGGG CTGAGACACGAAGGGTCGGTGTGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(43): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp1 HG02523.hp2 HG02559.hp1 HG03490.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp1 NA19000.hp2 NA19010.hp1 NA19066.hp1 NA19080.hp1 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 others(43): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220	46	366	0.1257	-75	c.-32 others(86): Show c.-3228_-3154delCCACACACCGACCCTTCGTGTCTCAGCCCCACCC CCAGACATGGACGGGTGATGGTCCCATCCCTGACTCCGTCA		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding					3154		chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421490	TGGGGCTG others(68): Show TGGGGCTGAGACACGAAGGGTCGGTGTGTGGTGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	366	0.0027	-75	c.-32 others(86): Show c.-3273_-3199delGCCCCCAGACATGGACGGGTGATGGTCCCATCCC TGACTCCGTCACCACACACCGACCCTTCGTGTCTCAGCCCC		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding					3199		chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421640	CGGGGGTG others(68): Show CGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCACGTCTGGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02723.hp2 others(7): Show HG02109.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03130.hp2 HG03486.hp2 HG03834.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0262 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366	10	366	0.0273	-75	c.-34 others(86): Show c.-3423_-3349delACCCCCAGACGTGGACGGGTGATGGTCCCATCCC TGACTCCGTCATCACACACCGACCCTTCGTGTCTCACCCCC		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding					3349		chr16	TogoVar
MAN1A2_chr1_117362449_117533872	117446673	ATTACAAC others(68): Show ATTACAACTTGTTTATAGCTCCGCATATGGTCTTTCTTGGTAAATACACT TGATAAGGAAGTGTATTCTGCAGTTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0266 a0001c0001t0153g0266	1	370	0.0027	-75	c.950 others(92): Show c.950+4351_950+4425delACAACTTGTTTATAGCTCCGCATATGGT CTTTCTTGGTAAATACACTTGATAAGGAAGTGTATTCTGCAGTTGTT		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MBD3L1_chr19_8827377_8848319	8846127	ATTATGTT others(68): Show ATTATGTTGCCAAGGCTGGTCTCTAACTCCTGGCCTCAAGCGATCCTCCT ACCGTGGTCTCCCAACATGCTGGGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	428	0.0023	-75	c.28 others(86): Show c.2865_*2939delTTATGTTGCCAAGGCTGGTCTCTAACTCCTGGCC TCAAGCGATCCTCCTACCGTGGTCTCCCAACATGCTGGGAT		MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding					2809		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7053461	ATTATAAT others(68): Show ATTATAATATAATTTATATGTTATATAATTATATTATATATAATATAATT TATATGTTATATAATTATATTATATA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	258	0.0039	-75	c.18 others(86): Show c.1840_*1914delTTATAATATAATTTATATGTTATATAATTATATT ATATATAATATAATTTATATGTTATATAATTATATTATATA		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					1727		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7053472	ATTTATAT others(68): Show ATTTATATGTTATATAATTATATTATATATAATATAATTTATATGTTATA TAATTATATTATATATATAATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	258	0.0039	-75	c.18 others(86): Show c.1851_*1925delTTTATATGTTATATAATTATATTATATATAATAT AATTTATATGTTATATAATTATATTATATATATAATATAAT		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					1738		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053461	ATTATAAT others(68): Show ATTATAATATAATTTATATGTTATATAATTATATTATATATAATATAATT TATATGTTATATAATTATATTATATA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	288	0.0035	-75	c.27 others(86): Show c.2786_*2860delTATATAATATAATTATATAACATATAAATTATAT TATATATAATATAATTATATAACATATAAATTATATTATAA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					2745		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035834	ATTATATT others(68): Show ATTATATTATATATATAATATAATTATATAACATATAAATTATATTATAT ATAATATAATTCTATAACATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0026 a0010c0015t0001g0026	1	262	0.0038	-75	c.19 others(86): Show c.1952_*2026delATTTATATGTTATAGAATTATATTATATATAATA TAATTTATATGTTATATAATTATATTATATATATAATATAA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					1914		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035834	ATTATATT others(68): Show ATTATATTATATATATAATATAATTATATAACATATAAATTATATTATAT ATAATATAATTCTATAACATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	249	0.0040	-75	c.29 others(86): Show c.2941_*3015delTTATATTATATATATAATATAATTATATAACATA TAAATTATATTATATATAATATAATTCTATAACATATAAAT		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					2824		chr19	TogoVar
MECOM_chr3_169078507_169668712	169472505	AAGGAAAG others(68): Show AAGGAAAGGAAAGGAAAGAAAAGAAAAGAAAAGGAAAGGAAAGGAAAAGA AAAGAGAGGAGAGGAGAGGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20300.hp1 HG02486.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0050 a0001c0004t0001 a0001c0006t0050	a0001c0004t0001g0059 a0001c0006t0050g0157 a0001c0004t0001g0059 a0001c0006t0050g0157	2	160	0.0125	-75	c.38- others(92): Show c.38-91056_38-90982delCTCCTCTCCTCTCCTCTCCTCTCTTTTC TTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTCCTTTCCTTTCCT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169472533	AAAAGGAA others(68): Show AAAAGGAAAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAGAG GAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp1 HG03130.hp1 others(7): Show HG00438.hp1 HG02056.hp1 HG03130.hp1 HG03195.hp2 HG03492.hp1 NA18522.hp2 NA18962.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0002c0011t0012	a0001c0001t0004g0073 a0001c0001t0005g0096 a0001c0001t0005g0101 others(7): Show a0001c0001t0004g0073 a0001c0001t0005g0096 a0001c0001t0005g0101 a0001c0001t0009g0139 a0001c0001t0009g0141 a0001c0001t0012g0029 a0001c0001t0014g0146 a0001c0001t0014g0147 a0001c0001t0014g0148 a0002c0011t0012g0027	10	160	0.0625	-75	c.38- others(92): Show c.38-91084_38-91010delCCTTTCCTTTCCTTTCCTTTCCTTTCCT CTCCTCTCCTCTCCTCTCCTCTCTTTTCTTTTCCTTTCCTTTCCTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169472548	GAAAAGAA others(68): Show GAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0030 a0001c0007t0012g0030	1	160	0.0063	-75	c.38- others(92): Show c.38-91099_38-91025delTCTTTTCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTCTCCTCTCCTCTCCTCTCCTCTCTTTTCTTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MED12L_chr3_151080664_151441653	151368619	TATTTTAT others(68): Show TATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATGTCATTTCATTTTATTTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0157 a0003c0006t0004g0157	1	280	0.0036	-75	c.355 others(92): Show c.3550+373_3550+447delTATTTTATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368629	TATTTCAT others(68): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT CATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	280	0.0036	-75	c.355 others(92): Show c.3550+439_3550+513delATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATGTCATTTCATTTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
METTL26_chr16_629430_641305	631733	CCCACCCC others(68): Show CCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCCTCTCCTC CCATCCACTCCTCCCATCCACTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-75	c.27 others(86): Show c.2789_*2863delAAGAAGTGGATGGGAGGAGTGGATGGGAGGAGAG GGTGGGAGGAGAGGATGGAAGGAGAGGCAGTGAAGGGGTGG		METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding					2696		chr16	TogoVar

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