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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IFITM10_chr11_1727406_1755595	1736743	GTGGATGG others(70): Show GTGGATGGAATGGATGGAGTGGAGTCAATGGAATGGATAGAGTGGATGGA GTGGAGTGAATGGAACGGATAGAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0153 a0001c0001t0023g0153	1	406	0.0025	-77	c.538 others(94): Show c.538-1391_538-1315delTCCACTCTATCCGTTCCATTCACTCCAC TCCATCCACTCTATCCATTCCATTGACTCCACTCCATCCATTCCATCCA	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding	2/2			chr11	TogoVar
IL19_chr1_206765773_206847981	206781893	AGTTATAT others(70): Show AGTTATATATACATATATATGTATATAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0080 a0002c0002t0004g0080	1	366	0.0027	-77	c.-14 others(98): Show c.-149+10841_-149+10917delAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATGTTATATATACATATATATGTA TAT	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL1RAPL1_chrX_28582446_29961718	29334107	TGGCCGGG others(70): Show TGGCCGGGCAGAGGGGTCCTCACTTCCTAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03139.hp1 HG03540.hp2 others(1): Show HG01106.hp1 HG03139.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0121 a0001c0001t0003g0030 a0001c0001t0007g0133 others(1): Show a0001c0001t0001g0121 a0001c0001t0003g0030 a0001c0001t0007g0133 a0001c0002t0004g0082	4	135	0.0296	-77	c.362 others(96): Show c.362+50899_362+50975delAGAGGGGTCCTCACTTCCTAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGG C	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1365877	AGCCGGGT others(70): Show AGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGG GGTGAGCGGGGTGCGGGGTGCGCGGTGC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	115	0.0087	-77	c.874 others(92): Show c.874+628_874+704delCGGGTGCGCGGGGTGAGCCGGGTGCGCGGG GTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGGGGTGCGCGGTGCGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INAVA_chr1_200889900_200920742	200911042	GTTAATGT others(70): Show GTTAATGTAGTACTTTAAAAAAAGTAGTTAATGTAGTACTTTAAAAAAAG TACTTAATGTAGTACTTTAAAAAAGTAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0194 a0001c0002t0005g0194	1	424	0.0024	-77	c.960 others(92): Show c.960-385_960-309delGTTAATGTAGTACTTTAAAAAAAGTACTTA ATGTAGTACTTTAAAAAAGTACTTAATGTAGTACTTTAAAAAAAGTA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
INO80B_chr2_74450087_74462944	74458121	TACCTGGC others(70): Show TACCTGGCGTGCTTCGGCCTTTGGCGTCATTCCGAAAACATACCGCAAGC CAATCAGCGGCAACCTTGCTCTTCGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	330	0.0030	-77	c.25 others(86): Show c.258_*334delACCTGGCGTGCTTCGGCCTTTGGCGTCATTCCGAAA ACATACCGCAAGCCAATCAGCGGCAACCTTGCTCTTCGGGG	INO80B	ENSG00000115274.15	transcript	ENST00000233331.12	protein_coding		178		chr2	TogoVar
IPCEF1_chr6_154149496_154361803	154357890	TATAATAT others(70): Show TATAATATATATATAAAATATATATATATAATATATATATAAAATATATA TATATAATATATATATAAAATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02717.hp2 others(7): Show HG02109.hp2 HG02280.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020	a0001c0001t0001g0087 a0001c0001t0001g0232 a0001c0001t0001g0234 others(7): Show a0001c0001t0001g0087 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0004g0155 a0001c0001t0005g0230 a0001c0001t0005g0236 a0001c0001t0007g0229 a0001c0001t0007g0233 a0001c0001t0020g0237	10	264	0.0379	-77	c.-13 others(88): Show c.-1357_-1281delTATATATATTTTATATATATATTATATATATATA TTTTATATATATATTATATATATATATTTTATATATATATTAT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1088		chr6	TogoVar
ITGA11_chr15_68291532_68437163	68397220	ATATATTA others(70): Show ATATATTATATATTATGTATTATATTATATTTTATAAAATATTATAAAAA TATTAAATTAAAAATTTTAAAATAATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18971.hp1 HG03130.hp1 NA18971.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0068 a0001c0001 a0013c0068	a0001c0001t0023 a0013c0068t0112 a0001c0001t0023 a0013c0068t0112	a0001c0001t0023g0105 a0013c0068t0112g0020 a0001c0001t0023g0105 a0013c0068t0112g0020	2	242	0.0083	-77	c.164 others(94): Show c.164+5621_164+5697delATATTATTTTAAAATTTTTAATTTAATA TTTTTATAATATTTTATAAAATATAATATAATACATAATATATAATATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA9_chr3_37447141_37828507	37512108	CCTTCCTT others(70): Show CCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0110 a0002c0004t0001g0110	1	168	0.0060	-77	c.898 others(94): Show c.898-1654_898-1578delCTTCCTTCCTTCTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27			chr3	TogoVar
ITGB1_chr10_32895318_32963230	32895739	CCACTGTC others(70): Show CCACTGTCCCATATATGACGCATTTTCTTCATCCATTCACTTGTCAATGG ACTCTTGGGTTGTTTCCAAGTTTTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	424	0.0024	-77	c.57 others(88): Show c.5754_*5830delAGCCAAAACTTGGAAACAACCCAAGAGTCCATTG ACAAGTGAATGGATGAAGAAAATGCGTCATATATGGGACAGTG	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding		4578		chr10	TogoVar
ITGB5_chr3_124756948_124892365	124780094	AGGCCTCT others(70): Show AGGCCTCTGAGGCAGGGCACGGGGACCCTCAGGGAGGCCTCTGAGGCAGG GCACAGGGACCATGGGGACCCTCAGCAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(73): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG01074.hp1 HG01192.hp1 HG01255.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02976.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0001c0007 a0001c0008 others(6): Show a0001c0001 a0001c0007 a0001c0008 a0001c0023 a0002c0003 a0004c0005 a0004c0017 a0005c0010 a0009c0018	a0001c0001t0001 a0001c0007t0001 a0001c0007t0007 others(10): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0007 a0001c0008t0009 a0001c0023t0001 a0002c0003t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0008 a0004c0005t0011 a0004c0017t0008 a0005c0010t0004 a0009c0018t0001	a0001c0001t0001g0090 a0001c0007t0001g0101 a0001c0007t0001g0210 others(73): Show a0001c0001t0001g0090 a0001c0007t0001g0101 a0001c0007t0001g0210 a0001c0007t0001g0212 a0001c0007t0001g0214 a0001c0007t0001g0215 a0001c0007t0001g0216 a0001c0007t0007g0004 a0001c0007t0007g0006 a0001c0008t0009g0245 a0001c0023t0001g0208 a0002c0003t0001g0051 a0002c0003t0001g0055 a0002c0003t0001g0065 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0118 a0002c0003t0001g0143 a0002c0003t0001g0158 a0002c0003t0001g0166 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0196 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0200 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0209 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0225 a0002c0003t0001g0261 a0002c0003t0001g0324 a0004c0005t0002g0194 a0004c0005t0002g0195 a0004c0005t0002g0332 a0004c0005t0002g0333 a0004c0005t0002g0335 a0004c0005t0002g0336 a0004c0005t0002g0337 a0004c0005t0002g0340 a0004c0005t0002g0341 a0004c0005t0002g0342 a0004c0005t0003g0144 a0004c0005t0008g0303 a0004c0005t0008g0304 a0004c0005t0008g0305 a0004c0005t0008g0311 a0004c0005t0008g0312 a0004c0005t0008g0314 a0004c0005t0011g0345 a0004c0005t0011g0346 a0004c0017t0008g0313 a0005c0010t0004g0349 a0005c0010t0004g0350 a0009c0018t0001g0185	76	352	0.2159	-77	c.169 others(96): Show c.1694-6259_1694-6183delCTGCTGAGGGTCCCCATGGTCCCTGT GCCCTGCCTCAGAGGCCTCCCTGAGGGTCCCCGTGCCCTGCCTCAGAGGC C	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITPR2_chr12_26330352_26838194	26785443	CCTGCCCG others(70): Show CCTGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGACCCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02451.hp1 others(1): Show HG02257.hp1 HG02280.hp1 HG02451.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0049 a0003c0032 others(1): Show a0001c0001 a0001c0049 a0003c0032 a0003c0033	a0001c0001t0007 a0001c0049t0028 a0003c0032t0009 others(1): Show a0001c0001t0007 a0001c0049t0028 a0003c0032t0009 a0003c0033t0034	a0001c0001t0007g0046 a0001c0049t0028g0103 a0003c0032t0009g0049 others(1): Show a0001c0001t0007g0046 a0001c0049t0028g0103 a0003c0032t0009g0049 a0003c0033t0034g0034	4	142	0.0282	-77	c.163 others(94): Show c.163+4637_163+4713delAGGGGTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCAG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132160496	GGGGGGGC others(70): Show GGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATG CTGGGGGGGTCTCTTCCTGTGTGATGCT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp2 HG02965.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0048 a0004c0014 a0001c0048 a0004c0014	a0001c0048t0013 a0004c0014t0013 a0001c0048t0013 a0004c0014t0013	a0001c0048t0013g0098 a0004c0014t0013g0147 a0001c0048t0013g0098 a0004c0014t0013g0147	2	158	0.0127	-77	c.222 others(96): Show c.2221-2706_2221-2630delCCTCTCCCTGTGTGATGCTGGGGGGG CCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCTD1_chr18_26449910_26553553	26546371	TGCTTCCT others(70): Show TGCTTCCTTTACATTTACAGTGTTCTCGCAGTCTTTGCCTTATAAAACTC ATGCATTCAATGAAGAGCGGCTGCAAGA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	338	0.0030	-77	c.180 others(94): Show c.1809+280_1809+356delTCTTGCAGCCGCTCTTCATTGAATGCAT GAGTTTTATAAGGCAAAGACTGCGAGAACACTGTAAATGTAAAGGAAGC	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/4			chr18	TogoVar
KDM4B_chr19_4964113_5158598	5043203	TGGGGTGT others(70): Show TGGGGTGTCCACCTTATCCCACTCTGTGTTTATCGGAGTGGGGTGTCCAC CTTATCCCGTGCTGTGTTTATCGGAGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03130.hp2 HG03471.hp2 HG01109.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0022g0063 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0022g0063	3	270	0.0111	-77	c.432 others(94): Show c.432+1972_432+2048delACTCTGTGTTTATCGGAGTGGGGTGTCC ACCTTATCCCGTGCTGTGTTTATCGGAGTGGGGGTGTCCACCTTATCCC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM6A_chrX_44868188_45117779	45040905	TGGCCGGG others(70): Show TGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	199	0.0050	-77	c.654 others(94): Show c.654+3225_654+3301delAGAGGGGTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGC	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF4A_chrX_70285104_70425886	70349891	TGGCGGCC others(70): Show TGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTGGCGGCCGG GCAGAGGCGCTCCTCAGTTCCCAGACGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02615.hp1 others(4): Show HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG03041.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001	a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0016 others(4): Show a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0018 a0001c0006t0005g0012 a0001c0010t0001g0013	7	259	0.0270	-77	c.143 others(96): Show c.1432-2693_1432-2617delACGCTCCTCACCTCCCAGACGGGGTG GCGGCCGGGCAGAGGCGCTCCTCAGTTCCCAGACGGGGCGGCCGGGCAGA G	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	13/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIR2DL3_chr19_54733513_54758052	54744884	ATATATAT others(70): Show ATATATATATATATACACACACACACACATATATAAACATATATATATAT ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0006 a0012c0010t0006	a0012c0010t0006g0055 a0012c0010t0006g0055	1	312	0.0032	-77	c.664 others(92): Show c.664+798_664+874delATATATATATATACACACACACACACATAT ATAAACATATATATATATATATATATATATATATATATATTTTTTTT	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIRREL1_chr1_157988645_158105262	158092566	CTCGATCT others(70): Show CTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGCATGAGCCACCATGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0163 a0001c0001t0047g0163	1	288	0.0035	-77	c.147 others(94): Show c.1472-772_1472-696delTCGATCTCCTGACCTCATGATTCACCCA CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCG	KIRREL1	ENSG00000183853.18	transcript	ENST00000359209.11	protein_coding	11/14			chr1	TogoVar
KRTAP25-1_chr21_30284145_30294514	30290182	TTGAATGG others(70): Show TTGAATGGATGTTTATCCTATTCATTATCTACAAGGAACCCCACAGTTAG GAAGGCATAGTCCTCATCCTGGAAGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	452	0.0022	-77	c.-76 others(86): Show c.-769_-693delCTTCTTCCAGGATGAGGACTATGCCTTCCTAACTGT GGGGTTCCTTGTAGATAATGAATAGGATAAACATCCATTCA	KRTAP25-1	ENSG00000232263.1	transcript	ENST00000416044.1	protein_coding		669		chr21	TogoVar
KRTAP4-8_chr17_41091981_41103142	41102475	GAATCTTA others(70): Show GAATCTTAAGGTCAGAAAGGGTTTGGTACTCTCCACATTCTAGCACAGTG CCCCTTTGCTGCTCCAGTTGTGGCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	416	0.0024	-77	c.-44 others(88): Show c.-4468_-4392delTTGAGCCACAACTGGAGCAGCAAAGGGGCACTGT GCTAGAATGTGGAGAGTACCAAACCCTTTCTGACCTTAAGATT	KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding		4334		chr17	TogoVar
LIMS1_chr2_108529470_108692246	108551726	AATGTATA others(70): Show AATGTATATGATATACAATATACATACATACCTATGTATATTGTATATCA TATACAATATACAGATATATCTGTATAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	246	0.0041	-77	c.32+ others(94): Show c.32+17158_32+17234delCATACCTATGTATATTGTATATCATATA CAATATACAGATATATCTGTATATATGTATATGATATACAATATACATA	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1870754	GCCTGCCA others(70): Show GCCTGCCACGCTGAACCGACCATAACACCTGCCACGCTGAACCCAACATA TGCCTGCCACGCTGAACCGACCATAACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	264	0.0038	-77	c.199 others(98): Show c.1998+27369_1998+27445delTGTTATGGTCGGTTCAGCGTGGCA GGCATATGTTGGGTTCAGCGTGGCAGGTGTTATGGTCGGTTCAGCGTGGC AGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1967835	ACCCTCCA others(70): Show ACCCTCCAGTCCACACTGCTGGCAATAAACAAGTTCCGGTGCGTGCACCA GATCAGAACACAGAGCACGCGGGAAACT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02895.hp1 others(3): Show HG01884.hp2 HG02257.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	6	264	0.0227	-77	c.150 others(98): Show c.1506-10193_1506-10117delAGTTTCCCGCGTGCTCTGTGTTCT GATCTGGTGCACGCACCGGAACTTGTTTATTGCCAGCAGTGTGGACTGGA GGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	15/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2058087	GGGGCTGG others(70): Show GGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGCGCGGGGCTGGA GAGGGAGTGTGGCTAGAGGAGAGAAGCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01891.hp2 others(18): Show HG01243.hp2 HG01255.hp1 HG01891.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004	a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 others(18): Show a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0003t0001g0074 a0001c0006t0001g0158 a0001c0007t0004g0078	21	264	0.0796	-77	c.121 others(98): Show c.1218+11030_1218+11106delTGCTTCTCTCCTCTAGCCACACTC CCTCTCCAGCCCCGCGCCTCTCCTCTCCTCTGGCCACACTCCCTCTCCAG CCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2058833	AGCAGGGC others(70): Show AGCAGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGCGCGGGGCT AGAGTGGGAGTGTGGCCAGGGGAGAGGC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	264	0.0038	-77	c.121 others(98): Show c.1218+10284_1218+10360delGCCTCTCCCCTGGCCACACTCCCA CTCTAGCCCCGCGCCTCTCCTCTCCTCTGGCCACACTCCCTCTCCAGCCC TGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452216	AAGAGAAG others(70): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG AAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	163	0.0061	-77	c.995 others(94): Show c.995+4620_995+4696delCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAPK4_chr18_50555087_50736826	50641320	TATCTGTA others(70): Show TATCTGTAGGGAAGTTCATACAGGTTTGTAGATTTTAAATTGTGTTTAAA GGTGCTTTGGTGTTTTATAGATACTTGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02647.hp1 others(6): Show HG02055.hp1 HG02145.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp2 HG03453.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0010	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0159 a0001c0001t0001g0267 a0001c0001t0002g0049 a0001c0001t0003g0047 a0001c0001t0003g0081 a0001c0009t0010g0108	9	302	0.0298	-77	c.-87 others(98): Show c.-870-21768_-870-21692delATCTGTAGGGAAGTTCATACAGGT TTGTAGATTTTAAATTGTGTTTAAAGGTGCTTTGGTGTTTTATAGATACT TGA	MAPK4	ENSG00000141639.12	transcript	ENST00000400384.7	protein_coding	1/5			chr18	TogoVar
MAPT_chr17_45889554_46033334	45903755	ATTTTTTT others(70): Show ATTTTTTTTATATATATAATATATATTAAAATATAATATATATATTTATA TAATATAATATATAAATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp1 others(18): Show HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG02109.hp1 HG02257.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG04199.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 others(1): Show a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 a0003c0004t0016	a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 others(18): Show a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0006 a0003c0004t0004g0008 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0011 a0003c0004t0004g0012 a0003c0004t0004g0013 a0003c0004t0004g0016 a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0011g0002 a0003c0004t0011g0015 a0003c0004t0015g0014 a0003c0004t0016g0007	21	253	0.0830	-77	c.-18 others(94): Show c.-18+9071_-18+9147delTTTTTTTATATATATAATATATATTAAA ATATAATATATATATTTATATAATATAATATATAAATATATTATATATT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MBD3L2_chr19_7044321_7056735	7053574	ATATAATA others(70): Show ATATAATATAATTTATATGTTATATAATTATATTATATATATAATATAAT TTATATGTTATATAATTATATTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01168.hp1 others(25): Show HG00642.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01943.hp1 HG01993.hp2 HG02129.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02897.hp1 HG02965.hp2 HG03471.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 NA18747.hp1 NA18946.hp2 NA18992.hp2 NA19002.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0007c0011	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0007c0011t0005	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0007t0001g0016 a0002c0002t0001g0008 a0002c0002t0001g0027 a0007c0011t0005g0028	28	258	0.1085	-77	c.19 others(88): Show c.1953_*2029delTATAATATAATTTATATGTTATATAATTATATTA TATATATAATATAATTTATATGTTATATAATTATATTATATAT	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1840		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053574	ATATAATA others(70): Show ATATAATATAATTTATATGTTATATAATTATATTATATATATAATATAAT TTATATGTTATATAATTATATTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp2 others(34): Show HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp2 HG01943.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02683.hp1 HG02738.hp1 HG02896.hp2 HG02965.hp2 HG03471.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18946.hp2 NA18953.hp1 NA18992.hp2 NA19002.hp1 NA20752.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0002g0020 others(2): Show a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0002g0020 a0003c0003t0001g0002 a0003c0003t0001g0033	37	288	0.1285	-77	c.26 others(88): Show c.2671_*2747delATATATAATATAATTATATAACATATAAATTATA TTATATATATAATATAATTATATAACATATAAATTATATTATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2632		chr19	TogoVar
MCPH1_chr8_6401627_6653508	6505349	TTCTTTCT others(70): Show TTCTTTCTATATGTATATAGAATATATATATTCTTTCTATATGTATATAG AATATATATATTCTTTATATACATAAAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03239.hp2 HG03669.hp2 HG02055.hp2 HG03239.hp2 HG03669.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0037 a0003c0005t0006 a0001c0001t0037 a0003c0005t0006	a0001c0001t0037g0168 a0003c0005t0006g0170 a0003c0005t0006g0180 a0001c0001t0037g0168 a0003c0005t0006g0170 a0003c0005t0006g0180	3	262	0.0115	-77	c.221 others(96): Show c.2214+5421_2214+5497delTCTTTCTATATGTATATAGAATATAT ATATTCTTTCTATATGTATATAGAATATATATATTCTTTATATACATAAA G	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13			chr8	TogoVar
MED12L_chr3_151080664_151441653	151368622	TTTATTTT others(70): Show TTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATGTCATTTCATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0178 a0001c0002t0027g0178	1	280	0.0036	-77	c.355 others(94): Show c.3550+372_3550+448delTTATTTTATTTCATTTCATTTCATTTCA TTTCATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44			chr3	TogoVar
MICA_chr6_31398595_31420315	31417422	CTGTTCCC others(70): Show CTGTTCCCTTTCACTCTTCCCATTCTTTCATCTTCCCGATGTATTTCTGT AGTAATTATGTTTGGTTCAGTCGTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01106.hp1 others(6): Show HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01261.hp1 HG02622.hp1 HG02738.hp2 HG03209.hp2 HG03579.hp2 NA19240.hp1	a0004 a0014 a0022 a0004 a0014 a0022	a0004c0014 a0014c0017 a0022c0027 a0004c0014 a0014c0017 a0022c0027	a0004c0014t0001 a0014c0017t0008 a0022c0027t0008 a0004c0014t0001 a0014c0017t0008 a0022c0027t0008	a0004c0014t0001g0023 a0004c0014t0001g0066 a0014c0017t0008g0059 others(2): Show a0004c0014t0001g0023 a0004c0014t0001g0066 a0014c0017t0008g0059 a0014c0017t0008g0113 a0022c0027t0008g0116	9	439	0.0205	-77	c.24 others(88): Show c.2441_*2517delTGTTCCCTTTCACTCTTCCCATTCTTTCATCTTC CCGATGTATTTCTGTAGTAATTATGTTTGGTTCAGTCGTTCCT	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding		2108		chr6	TogoVar
MINAR1_chr15_79427336_79477304	79437772	GGGGTGGG others(70): Show GGGGTGGGTAGTGTGTGGGGTGTGGGGTTGGCAGTGAGTGTGTGGGGCGT GGGTGTGTGTAGGGAGTGTGTGGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	390	0.0026	-77	c.-51 others(94): Show c.-51+5257_-51+5333delGGTTGGCAGTGAGTGTGTGGGGCGTGGG TGTGTGTAGGGAGTGTGTGGGGTGTGGGTGGGTAGTGTGTGGGGTGTGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MOGS_chr2_74456057_74470382	74458121	TACCTGGC others(70): Show TACCTGGCGTGCTTCGGCCTTTGGCGTCATTCCGAAAACATACCGCAAGC CAATCAGCGGCAACCTTGCTCTTCGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	362	0.0028	-77	c.30 others(88): Show c.3077_*3153delCCCCGAAGAGCAAGGTTGCCGCTGATTGGCTTGC GGTATGTTTTCGGAATGACGCCAAAGGCCGAAGCACGCCAGGT	MOGS	ENSG00000115275.15	transcript	ENST00000448666.7	protein_coding		2935		chr2	TogoVar
MRNIP_chr5_179832276_179863817	179835032	TCTCCTCA others(70): Show TCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCC CGGATGGGGTCGCGGCCAGGCAGAGGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG04115.hp1 HG04228.hp1 HG02683.hp1 HG04115.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0033	3	444	0.0068	-77	c.22 others(88): Show c.2282_*2358delCGCCTCTGCCTGGCCGCGACCCCATCCGGGAGGT GAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAG	MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding		2243		chr5	TogoVar
MROH6_chr8_143561192_143577772	143575806	GGGGGTGG others(70): Show GGGGGTGGCAGTGCCCTGGGTGGGGAAGGAGGTGCCAGTGCCCTAGGTGG GGAAGGAGGTGGCACTGCCCTGGGTGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG02145.hp2 others(1): Show HG01261.hp1 HG01433.hp2 HG02145.hp2 NA18979.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0025 a0001c0001t0001 a0005c0006t0025	a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0092 a0005c0006t0025g0120	4	437	0.0092	-77	c.-31 others(88): Show c.-3169_-3093delTTCACCCAGGGCAGTGCCACCTCCTTCCCCACCT AGGGCACTGGCACCTCCTTCCCCACCCAGGGCACTGCCACCCC	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding		3035		chr8	TogoVar
MROH6_chr8_143561192_143577772	143575827	GGGGAAGG others(70): Show GGGGAAGGAGGTGCCAGTGCCCTAGGTGGGGAAGGAGGTGGCACTGCCCT GGGTGAAGGGGGTGGCAGTGCCCTGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	437	0.0023	-77	c.-31 others(88): Show c.-3190_-3114delACCCAGGGCACTGCCACCCCCTTCACCCAGGGCA GTGCCACCTCCTTCCCCACCTAGGGCACTGGCACCTCCTTCCC	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding		3056		chr8	TogoVar
MROH6_chr8_143561192_143577772	143575833	GGAGGTGC others(70): Show GGAGGTGCCAGTGCCCTAGGTGGGGAAGGAGGTGGCACTGCCCTGGGTGA AGGGGGTGGCAGTGCCCTGGGTGGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0082 a0009c0010t0001g0082	1	437	0.0023	-77	c.-31 others(88): Show c.-3196_-3120delTTCCCCACCCAGGGCACTGCCACCCCCTTCACCC AGGGCAGTGCCACCTCCTTCCCCACCTAGGGCACTGGCACCTC	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding		3062		chr8	TogoVar
MTA1_chr14_105414827_105475729	105470903	TGCCCACA others(70): Show TGCCCACAGACCTTCCCCTGCTGGGGCCTGGCGCGGTGCCCTCTGCCCTC CCCAGGGGGCAGCAAGCGGTTGCAGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0044 a0001c0017t0001g0044	1	304	0.0033	-77	c.68 others(86): Show c.689_*765delGCCCACAGACCTTCCCCTGCTGGGGCCTGGCGCGGT GCCCTCTGCCCTCCCCAGGGGGCAGCAAGCGGTTGCAGGGC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding		175		chr14	TogoVar
MUC5AC_chr11_1152953_1206138	1159569	GGGGCTGT others(70): Show GGGGCTGTGCGGGGCTGTGCGGGGCTGTGCGGGGCTGTGCGGGGCTGGGG TCTGGTCCCACCATGCTGGCTCTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02922.hp1 HG01891.hp2 HG02818.hp2 HG02922.hp1	a0020 a0048 a0020 a0048	a0020c0040 a0020c0041 a0048c0042 a0020c0040 a0020c0041 a0048c0042	a0020c0040t0003 a0020c0041t0002 a0048c0042t0001 a0020c0040t0003 a0020c0041t0002 a0048c0042t0001	a0020c0040t0003g0228 a0020c0041t0002g0226 a0048c0042t0001g0227 a0020c0040t0003g0228 a0020c0041t0002g0226 a0048c0042t0001g0227	3	292	0.0103	-77	c.74- others(91): Show c.74-1026_74-950delTGCGGGGCTGTGCGGGGCTGTGCGGGGCTGG GGTCTGGTCCCACCATGCTGGCTCTGTGCAGGGCTGTGCGGGGCTG	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	1/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO5B_chr18_49817789_50200147	50043504	TAAATATA others(70): Show TAAATATATTTATAAGTATATAAATATATTTTATATATAAATATAAATGT ATTTATAAGTATATATATTTTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0004 a0001c0001t0024g0004	1	238	0.0042	-77	c.139 others(94): Show c.139-3267_139-3191delTTATATAAAAATATATATACTTATAAAT ACATTTATATTTATATATAAAATATATTTATATACTTATAAATATATTT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	2/39			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085509	CGCGTGGC others(70): Show CGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATC TCTGCGTGGCCCCACTGTTGTGATCTCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18971.hp2 NA19066.hp2 HG02074.hp1 NA18971.hp2 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0020 a0003c0001 a0003c0004 a0001c0020 a0003c0001 a0003c0004	a0001c0020t0002 a0003c0001t0001 a0003c0004t0002 a0001c0020t0002 a0003c0001t0001 a0003c0004t0002	a0001c0020t0002g0249 a0003c0001t0001g0131 a0003c0004t0002g0237 a0001c0020t0002g0249 a0003c0001t0001g0131 a0003c0004t0002g0237	3	403	0.0074	-77	c.164 others(94): Show c.1644+130_1644+206delCCACTGTTGTGATCTCTGCGTGGCCCCA CTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085549	TGTCATGA others(70): Show TGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTGCGTGGCCCCCCACA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	403	0.0025	-77	c.164 others(94): Show c.1644+163_1644+239delATGATCTCTGCGTGGCCCCACTGTTGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085572	ACTGTTGT others(70): Show ACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18983.hp1 HG03490.hp1 NA18983.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0158 a0001c0003 a0004c0158	a0001c0003t0001 a0004c0158t0002 a0001c0003t0001 a0004c0158t0002	a0001c0003t0001g0188 a0004c0158t0002g0380 a0001c0003t0001g0188 a0004c0158t0002g0380	2	403	0.0050	-77	c.164 others(94): Show c.1644+184_1644+260delTGTTGTGATCTCTGCGTGGCCCCACTGT CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085594	CCCACTGT others(70): Show CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp2 HG02165.hp2 HG02735.hp2	a0003 a0004 a0003 a0004	a0003c0001 a0004c0007 a0003c0001 a0004c0007	a0003c0001t0001 a0004c0007t0001 a0003c0001t0001 a0004c0007t0001	a0003c0001t0001g0235 a0004c0007t0001g0336 a0003c0001t0001g0235 a0004c0007t0001g0336	2	403	0.0050	-77	c.164 others(94): Show c.1644+207_1644+283delACTGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086147	CGTGGCCC others(70): Show CGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTC TGCGTGGCCCCACTGTCATGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0191 a0002c0015t0001g0191	1	403	0.0025	-77	c.164 others(94): Show c.1644+781_1644+857delCTGCGTGGCCCCACTGTCATGATCTCTG CGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64171619	AACCTCTG others(70): Show AACCTCTGGCATCTGGAGGAACCCAAACCCTAACTCCCTACACCTCTGGC ATCTGGAGGAACCCAAACCCTAACCCCT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18612.hp1 NA19043.hp1 HG02040.hp2 NA18612.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0013 a0001c0006t0015 a0001c0001t0001 a0001c0001t0013 a0001c0006t0015	a0001c0001t0001g0023 a0001c0001t0013g0022 a0001c0006t0015g0024 a0001c0001t0001g0023 a0001c0001t0013g0022 a0001c0006t0015g0024	3	223	0.0135	-77	c.-99 others(94): Show c.-99+6882_-99+6958delCCTCTGGCATCTGGAGGAACCCAAACCC TAACTCCCTACACCTCTGGCATCTGGAGGAACCCAAACCCTAACCCCTA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAPRT_chr8_143569785_143583330	143575806	GGGGGTGG others(70): Show GGGGGTGGCAGTGCCCTGGGTGGGGAAGGAGGTGCCAGTGCCCTAGGTGG GGAAGGAGGTGGCACTGCCCTGGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG02145.hp2 others(1): Show HG01261.hp2 HG01433.hp2 HG02145.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035	4	403	0.0099	-77	c.110 others(94): Show c.1108-181_1108-105delTTCACCCAGGGCAGTGCCACCTCCTTCC CCACCTAGGGCACTGGCACCTCCTTCCCCACCCAGGGCACTGCCACCCC	NAPRT	ENSG00000147813.16	transcript	ENST00000449291.7	protein_coding	8/12			chr8	TogoVar

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