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
INTU_chr4_127627957_127731737	127682039	C C	CAAAACCA others(304): Show CAAAACCACAGGCCGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0267 a0001c0004t0002g0267	1	358	0.0028	311	c.118 others(330): Show c.1182-2361_1182-2360insGGCCGGGCGCGGTGGCTCACGCCTAT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAACCACA	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(304): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCT CCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG00280.hp1 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0155 a0001c0003t0010g0232 a0001c0003t0010g0155 a0001c0003t0010g0232	2	282	0.0071	311	c.258 others(328): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10208462	T T	TAAAAAAA others(304): Show TAAAAAAAAATCTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 NA18951.hp2 others(3): Show HG01192.hp2 HG02622.hp1 NA18951.hp2 NA18953.hp1 NA19077.hp2 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0044 a0004c0005t0001g0182 a0004c0005t0001g0290	6	292	0.0206	311	c.425 others(328): Show c.425-1115_425-1114insGGGCTGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAATCT	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156522084	T T	TACAAGAT others(304): Show TACAAGATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18954.hp1 HG03540.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0001g0038 a0001c0001t0001g0066	2	124	0.0161	311	c.961 others(328): Show c.961-1734_961-1733insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCACAAGATTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156522084	T T	TACAATAT others(304): Show TACAATATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02083.hp2 HG02723.hp1 others(4): Show HG01891.hp2 HG02083.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2 NA18906.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 a0001c0007t0001 a0001c0009t0002	a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0095 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0012g0063 a0001c0003t0001g0018 a0001c0007t0001g0044 a0001c0009t0002g0005	7	124	0.0565	311	c.961 others(328): Show c.961-1739_961-1738insTATTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCACAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156522084	T T	TACAATAT others(304): Show TACAATATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0034 a0002c0004t0001g0034	1	124	0.0081	311	c.961 others(328): Show c.961-1739_961-1738insTATTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCACAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCND2_chr7_120268175_120755337	120463395	T T	TTAAATTT others(304): Show TTAAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	80	0.0125	311	c.111 others(334): Show c.1115+187657_1115+187658insTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTAAATTTTT	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNH5_chr14_62694464_63050458	62754962	T T	TAAAGAGA others(304): Show TAAAGAGACAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00609.hp2 others(44): Show HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02293.hp1 HG02559.hp2 HG02683.hp2 HG02735.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp1 NA18963.hp2 NA18993.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19074.hp1 NA19081.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0001c0001t0043 a0001c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(44): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0084 a0001c0001t0002g0130 a0001c0001t0002g0209 a0001c0001t0006g0068 a0001c0001t0015g0019 a0001c0001t0016g0055 a0001c0001t0016g0057 a0001c0001t0016g0188 a0001c0001t0018g0033 a0001c0001t0018g0044 a0001c0001t0018g0049 a0001c0001t0019g0093 a0001c0001t0022g0024 a0001c0001t0023g0069 a0001c0001t0023g0142 a0001c0001t0027g0098 a0001c0001t0028g0056 a0001c0001t0037g0106 a0001c0001t0043g0004 a0001c0011t0001g0097	47	224	0.2098	311	c.201 others(332): Show c.2019+24765_2019+24766insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTTTGTCTCTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62754962	T T	TAAAGAGA others(304): Show TAAAGAGACAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0091 a0001c0001t0026g0091	1	224	0.0045	311	c.201 others(332): Show c.2019+24765_2019+24766insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTTTGTCTCTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KCNH7_chr2_162366407_162843767	162822107	A A	AAAATTTT others(304): Show AAAATTTTACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp2 others(16): Show HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01106.hp2 HG01496.hp1 HG02027.hp1 HG02258.hp1 HG03486.hp2 NA18959.hp2 NA18965.hp2 NA18970.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18991.hp2 NA19004.hp1 NA19062.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(16): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0003t0001g0089 a0001c0003t0001g0093 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0003g0100 a0001c0005t0001g0086 a0001c0007t0001g0012	19	100	0.1900	311	c.307 others(330): Show c.307+14429_307+14430insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAGTAAAATTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(304): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	80	0.0125	311	c.61+ others(330): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACT GCAGTGGCGCAATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178758739	G G	GATATATA others(304): Show GATATATATATATATATATATCTCCAAAAGGAGATATATATATATATATA TCTCCAAAAGGAGATATATATATATATATATCTCCAAAAGGAGATATATA TATATATATATCTCCAAAAGGAGATATATATATATATATATCTCCAAGAG GAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAG AGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATATATAT ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	232	0.0043	311	c.-67 others(330): Show c.-67-48586_-67-48585insATCTCCAAAAGGAGATATATATATAT ATATATCTCCAAAAGGAGATATATATATATATATATCTCCAAAAGGAGAT ATATATATATATATATCTCCAAAAGGAGATATATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATA TATATATATATATATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758772	T T	TATATATA others(304): Show TATATATATATATCTCCTCTAGGAGAGATATATATATATATATATATATC TCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA GATATATATATATATATATATCTCCAAGAGGAGATATATATATATATATA TCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18992.hp2 HG02129.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0038 a0001c0002t0001g0039	2	232	0.0086	311	c.-67 others(330): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATAT ATATATATATATCTCCAAGAGGGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM6A_chrX_44868188_45117779	45048879	A A	ACTCAAGT others(304): Show ACTCAAGTTACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0187 a0001c0001t0001g0190	2	199	0.0101	311	c.655 others(328): Show c.655-2814_655-2813insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCAAGTTACTTTTTT	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIAA0930_chr22_45187244_45245894	45228743	T T	TACCACCA others(304): Show TACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCACTCACCCGAAAGA TCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCC ACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCTACCA CCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACC TGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCT CTTCACCCCCCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	398	0.0025	311	c.64+ others(328): Show c.64+11896_64+11897insTGGGGGGTGAAGAGGGATCTTTCGGGTG AGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTAGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCA GGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGG TGGTAGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGT GGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228897	C C	CCCACCAC others(304): Show CCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGA GAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTC CACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCC ACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAA CACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCT GAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTC TCCACCCCCCTA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0295 a0001c0001t0130g0295	1	398	0.0025	311	c.64+ others(328): Show c.64+11742_64+11743insTAGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTG GTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGG GGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF13A_chr6_17758693_17992635	17874942	T T	TAATTCAT others(304): Show TAATTCATTCCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0043 a0005c0043	a0005c0043t0001 a0005c0043t0001	a0005c0043t0001g0128 a0005c0043t0001g0128	1	282	0.0036	311	c.160 others(328): Show c.160-1506_160-1505insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGGAATGAATT	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	3/38			chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGG others(304): Show AGGCGGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGC GGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCG CTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0056 a0001c0003t0034g0056	1	375	0.0027	311	c.317 others(328): Show c.317+1419_317+1420insGAACGGCGCTGCGGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(304): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGA ACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0043 a0001c0003t0004g0043	1	375	0.0027	311	c.317 others(328): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(304): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGG AACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0048 a0001c0003t0004g0048	1	375	0.0027	311	c.317 others(328): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(304): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACG GCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGG AACGGCGCTGCG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0044 a0001c0003t0004g0044	1	375	0.0027	311	c.317 others(328): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLF12_chr13_73681089_74139404	74095369	T T	TTGTAGTG others(304): Show TTGTAGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0075	1	120	0.0083	311	c.-32 others(330): Show c.-32+38602_-32+38603insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAGGCACTACA	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	1/7			chr13	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(304): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0340	1	400	0.0025	311	c.997 others(328): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
KRT75_chr12_52419070_52439371	52419896	A A	AAGTTGTC others(304): Show AAGTTGTCATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01943.hp1 HG01168.hp2 HG01943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0034 a0003c0003t0003g0005 a0003c0003t0003g0034	2	416	0.0048	311	c.46 others(322): Show c.4620_*4621insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAATGACAACT	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		4173		chr12	TogoVar
KRT82_chr12_52388931_52411335	52408975	G G	GCTCCCCT others(304): Show GCTCCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCTCCTCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0033 a0004c0004t0001g0033	1	370	0.0027	311	c.-26 others(322): Show c.-2699_-2698insAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGAGGAGGAGAGG AGAGGAGGGAGAGGGAGAGGAGGGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2641		chr12	TogoVar
LAMC1_chr1_183018420_183150592	183149568	T T	TCTCCTCA others(304): Show TCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAG CCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCA CACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCT CACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	308	0.0033	311	c.67 others(322): Show c.6778_*6779insCTCCTCACACACCACACAGCTCACATCCCTCTCC TCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCC CACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCT CCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTC ACACACCAGACAGCTCACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3977		chr1	TogoVar
LDLRAD3_chr11_35939062_36237136	35986025	A A	ACGAGAGA others(304): Show ACGAGAGACTTATGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02630.hp1 others(10): Show HG02257.hp2 HG02572.hp1 HG02630.hp1 HG02896.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0003c0005t0004	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0161 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0161 a0001c0001t0005g0044 a0001c0001t0006g0012 a0001c0001t0020g0010 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0186 a0001c0002t0007g0215 a0001c0002t0008g0011 a0001c0002t0008g0038 a0003c0005t0004g0009	13	236	0.0551	311	c.46+ others(328): Show c.46+41896_46+41897insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGAGAGACTTATGTT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13288622	G G	GCAGACCG others(304): Show GCAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCC CCACAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCATGGTAGCAG CCCCGCAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGC AGCCCCACAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTA GCAGCCCCACAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGCCACGGT AGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACG GTAGCAGCCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	178	0.0056	311	c.-38 others(332): Show c.-383+10524_-383+10525insTGGTAGCAGCCCCGCAGACCGTGG TCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCACAGACCGT GGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCACAGACC GTGGTCACTCTGCAAGGTGAGTCACGGGCCACGGTAGCAGCCCCGCAGAC CGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCACAG ACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCAC AGACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LHPP_chr10_124456823_124619141	124471627	T T	TATTTATA others(304): Show TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATATTTTTA TATATATTTATATATATTTTTATATATAGTTATATATATTTATATATAGT TATATATATTTATATATAGTTATGTATAGTTATATATAGTTATATATATA GTTATATATAGTTATATATATAGTTATATATATATATTTTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATATTTATATA TTTATATATGTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	260	0.0039	311	c.125 others(328): Show c.125+9640_125+9641insATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAG TTATATATATTTATATATAGTTATATATATTTATATATAGTTATGTATAG TTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTATAT ATATATATTTTTATATATATATTTATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATTTATATATGTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LIN7A_chr12_80787520_80942934	80921440	G G	GAGTGCCA others(304): Show GAGTGCCAGCAGATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTACAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0172 a0001c0001t0022g0172	1	292	0.0034	311	c.82+ others(328): Show c.82+16200_82+16201insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGTA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAATCTGCTGGCACT	LIN7A	ENSG00000111052.8	transcript	ENST00000552864.6	protein_coding	1/5			chr12	TogoVar
LNP1_chr3_100396539_100461319	100458407	T T	TAAAAACC others(304): Show TAAAAACCCCAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18956.hp2 NA19081.hp2 NA18946.hp1 NA18956.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0346 a0001c0001t0002g0355 a0001c0001t0002g0304 a0001c0001t0002g0346 a0001c0001t0002g0355	3	398	0.0075	311	c.24 others(322): Show c.2481_*2482insAAAAACCCCAAAACAGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAA	LNP1	ENSG00000206535.8	transcript	ENST00000383693.8	protein_coding		2089		chr3	TogoVar
LRMDA_chr10_75426624_76565168	75672589	C C	CCCTTCCC others(304): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTTCCTGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	46	0.0217	311	c.131 others(332): Show c.131+234095_131+234096insCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCTGCT	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6			chr10	TogoVar
LRRC9_chr14_59915144_60071817	60065670	T T	TAAAAGAG others(304): Show TAAAAGAGAGTAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02559.hp2 HG02922.hp2 others(7): Show HG02074.hp2 HG02559.hp2 HG02922.hp2 HG03139.hp2 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18955.hp2 NA18989.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0023 a0001c0001t0011 a0001c0001t0023	a0001c0001t0011g0021 a0001c0001t0011g0050 a0001c0001t0011g0073 others(7): Show a0001c0001t0011g0021 a0001c0001t0011g0050 a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0011g0075 a0001c0001t0011g0078 a0001c0001t0011g0079 a0001c0001t0011g0097 a0001c0001t0023g0049 a0001c0001t0023g0059	10	322	0.0311	311	c.23 others(322): Show c.2326_*2327insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAGAGAGTAAACTATT	LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	33/33	2327	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRTM4_chr2_76742685_77527376	76841096	T T	TAAAAAAT others(304): Show TAAAAAATGATGAGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCAGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTCGGCGACAGAGCAAGACTCCGTCTC AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(13): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01109.hp1 HG02523.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp1 NA18522.hp2 NA18950.hp1 NA18961.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0125 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0125 a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0002g0051 a0001c0001t0002g0080 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0054 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0009g0055	16	128	0.1250	311	c.155 others(332): Show c.1552-92181_1552-92180insTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCGAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGAACTCATCATTTTTT	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRRTM4_chr2_76742685_77527376	76841096	T T	TAAAAAAT others(304): Show TAAAAAATGATGAGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTCGGCGACAGAGCAAGACTCCGTCTC AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	128	0.0078	311	c.155 others(332): Show c.1552-92181_1552-92180insTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCGAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGAACTCATCATTTTTT	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRRTM4_chr2_76742685_77527376	76841096	T T	TAAAAAAT others(304): Show TAAAAAATGATGAGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTC AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG03139.hp2 others(2): Show HG01884.hp1 HG02965.hp2 HG03139.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0062 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0003g0088	5	128	0.0391	311	c.155 others(332): Show c.1552-92181_1552-92180insTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGAACTCATCATTTTTT	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRRTM4_chr2_76742685_77527376	76841096	T T	TAAAAAAT others(304): Show TAAAAAATGATGAGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTC AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02135.hp2 HG04199.hp1 others(2): Show HG01496.hp1 HG02135.hp2 HG04199.hp1 NA18968.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0002g0075 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0110 a0001c0001t0003g0031	5	128	0.0391	311	c.155 others(332): Show c.1552-92181_1552-92180insTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGAACTCATCATTTTTT	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRRTM4_chr2_76742685_77527376	76924598	T T	TAAAAATG others(304): Show TAAAAATGCACATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	128	0.0078	311	c.155 others(334): Show c.1552-175683_1552-175682insTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTAATGTGCATTTTT	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(304): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGGTGG GGAGAGAGAGAGAGAGGGAGGGAGGGATGGGGGAGAGAGAGGGGAGAGGG GAGGGAGAGGGGGGAGAGGGAGGAGAGAGGGGGGAGAGGGGGAGAGAGGG GGGAGATGGGGGAGAGGGGGGAGATGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGAGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGG GGGGAGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGGAAAGGG GGGAGAGAGGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0008 a0002c0002t0011g0008	1	163	0.0061	311	c.525 others(328): Show c.525+8507_525+8508insCACCTCTCTCCCCCCTTTCCCCCTCTCC CCCTCTCCCCCCTCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCTCCCC CTCTCCCCCATCTCCCCCCTCTCCCCCATCTCCCCCCTCTCTCCCCCTCT CCCCCCTCTCTCCTCCCTCTCCCCCCTCTCCCTCCCCTCTCCCCTCTCTC TCCCCCATCCCTCCCTCCCTCTCTCTCTCTCTCCCCACCCCTCCCTCCCT CTCTCTCTCTCTCCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478002	G G	GGGAGAGA others(304): Show GGGAGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGA GGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGG GGAGGGGGAGAGGGGGGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	163	0.0061	311	c.525 others(328): Show c.525+8479_525+8480insTCCCCCCTCCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163881682	G G	GAAAAGAA others(304): Show GAAAAGAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01071.hp2 others(4): Show HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01261.hp2 HG01884.hp2 HG03491.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0009g0034 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0009g0034 a0001c0001t0009g0088 a0001c0001t0010g0063 a0001c0002t0002g0011 a0001c0002t0002g0092	7	102	0.0686	311	c.-38 others(330): Show c.-38-27514_-38-27513insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTATTTCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(304): Show TCTCCCTCCCTCCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTT CCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTT CCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCCCTCCC TCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACT TCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCT TCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTC CTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18940.hp2 NA19076.hp1 HG00621.hp2 NA18940.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0262 a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0262	3	298	0.0101	311	c.52- others(326): Show c.52-3337_52-3336insCCCTCCCTCCCTCCCTCCTTCCCCCCTCCC CCCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCC CTCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTC CCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCT CCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTT CCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCT TCTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(304): Show TCTCCCTCCCTCCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTT CCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTT CCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCC TCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACT TCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCT TCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTC CTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	298	0.0034	311	c.52- others(326): Show c.52-3337_52-3336insCCCTCCCTCCCTCCCTCCTTCCCCCCTCCC CCCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCC CTCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCT CCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTT CCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCT TCTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(304): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCCTCCCCCCTTT CCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTT CCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCCCTCCC TCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACT TCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCT TCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTC CTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	298	0.0034	311	c.52- others(326): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCCTCCC CCCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCC CTCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTC CCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCT CCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTT CCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCT TCTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	66721537	T T	TCCTTGAC others(304): Show TCCTTGACCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG03540.hp2 others(2): Show HG02055.hp2 HG02451.hp2 HG03540.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0002 a0003c0013 a0006c0012 others(1): Show a0001c0002 a0003c0013 a0006c0012 a0007c0014	a0001c0002t0001 a0003c0013t0017 a0006c0012t0015 others(1): Show a0001c0002t0001 a0003c0013t0017 a0006c0012t0015 a0007c0014t0007	a0001c0002t0001g0075 a0003c0013t0017g0007 a0006c0012t0015g0085 others(2): Show a0001c0002t0001g0075 a0003c0013t0017g0007 a0006c0012t0015g0085 a0006c0012t0015g0086 a0007c0014t0007g0012	5	108	0.0463	311	c.364 others(330): Show c.364-38160_364-38159insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTTGACCTCTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCF2_chrX_139576770_139713167	139662307	A A	ACCCCTAT others(304): Show ACCCCTATAAAGATTTTTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGG GACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	249	0.0040	311	c.-44 others(330): Show c.-44-10520_-44-10519insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG TCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGC CTCAAAAAAAAAAAAAAAAAAAATCTTTATAGGGG	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding	1/28			chrX	TogoVar
MECOM_chr3_169078507_169668712	169167961	T T	TAAAACAT others(304): Show TAAAACATTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp1 HG02257.hp1 others(6): Show HG01361.hp2 HG01433.hp1 HG02257.hp1 HG03017.hp2 NA18951.hp1 NA18965.hp1 NA18968.hp2 NA18975.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0028 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0028 a0001c0003t0005 a0001c0004t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0027	a0001c0001t0003g0032 a0001c0001t0006g0116 a0001c0001t0028g0007 others(6): Show a0001c0001t0003g0032 a0001c0001t0006g0116 a0001c0001t0028g0007 a0001c0003t0005g0098 a0001c0004t0002g0088 a0002c0002t0004g0065 a0002c0002t0005g0095 a0002c0002t0005g0102 a0002c0002t0027g0006	9	160	0.0563	311	c.376 others(330): Show c.376-24130_376-24129insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAAGAATGTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(304): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 NA20300.hp2 HG02809.hp1 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0007g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0007g0221	3	360	0.0083	311	c.-15 others(328): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
METTL24_chr6_110238940_110363349	110305537	C C	CAAAAGAA others(304): Show CAAAAGAAGACATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00597.hp1 others(65): Show HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp2 HG01433.hp1 HG01891.hp1 HG02040.hp2 HG02135.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18998.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005 a0008c0008 a0009c0014	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(28): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0020 a0001c0002t0022 a0001c0004t0009 a0002c0003t0002 a0002c0003t0014 a0003c0005t0021 a0008c0008t0009 a0009c0014t0001	a0001c0001t0002g0173 a0001c0001t0002g0238 a0001c0001t0002g0265 others(65): Show a0001c0001t0002g0173 a0001c0001t0002g0238 a0001c0001t0002g0265 a0001c0001t0006g0139 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0207 a0001c0001t0006g0214 a0001c0001t0006g0222 a0001c0001t0006g0245 a0001c0001t0007g0143 a0001c0001t0007g0150 a0001c0001t0007g0154 a0001c0001t0007g0167 a0001c0001t0007g0203 a0001c0001t0007g0216 a0001c0001t0007g0218 a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0008g0156 a0001c0001t0008g0191 a0001c0001t0010g0160 a0001c0001t0010g0225 a0001c0001t0010g0226 a0001c0001t0010g0228 a0001c0001t0011g0239 a0001c0001t0011g0247 a0001c0001t0011g0248 a0001c0001t0013g0153 a0001c0001t0013g0208 a0001c0001t0017g0206 a0001c0001t0017g0210 a0001c0001t0017g0211 a0001c0001t0018g0180 a0001c0001t0020g0165 a0001c0001t0022g0215 a0001c0001t0023g0172 a0001c0001t0028g0227 a0001c0001t0033g0250 a0001c0002t0001g0032 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0006g0092 a0001c0002t0006g0102 a0001c0002t0008g0026 a0001c0002t0010g0072 a0001c0002t0011g0054 a0001c0002t0011g0055 a0001c0002t0011g0056 a0001c0002t0012g0067 a0001c0002t0012g0073 a0001c0002t0013g0103 a0001c0002t0014g0129 a0001c0002t0020g0065 a0001c0002t0022g0076 a0001c0004t0009g0171 a0002c0003t0002g0002 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0014g0015 a0003c0005t0021g0267 a0008c0008t0009g0019 a0009c0014t0001g0130	68	268	0.2537	311	c.558 others(328): Show c.558-6388_558-6387insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAATGTCTTCTTTT	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4			chr6	TogoVar
METTL2B_chr7_128471748_128511602	128510773	A A	AAATGTAT others(304): Show AAATGTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGC CTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(74): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18957.hp2 NA18962.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0011 a0012 a0014	a0001c0002 a0002c0004 a0006c0008 others(3): Show a0001c0002 a0002c0004 a0006c0008 a0011c0012 a0012c0013 a0014c0011	a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 others(13): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0049 a0001c0002t0073 a0002c0004t0001 a0002c0004t0013 a0002c0004t0024 a0002c0004t0028 a0002c0004t0030 a0002c0004t0039 a0002c0004t0040 a0006c0008t0001 a0011c0012t0038 a0012c0013t0029 a0014c0011t0001	a0001c0002t0001g0040 a0001c0002t0001g0064 a0001c0002t0001g0165 others(50): Show a0001c0002t0001g0040 a0001c0002t0001g0064 a0001c0002t0001g0165 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0007g0004 a0001c0002t0007g0192 a0001c0002t0007g0193 a0001c0002t0007g0194 a0001c0002t0007g0197 a0001c0002t0011g0020 a0001c0002t0011g0133 a0001c0002t0011g0178 a0001c0002t0011g0179 a0001c0002t0049g0198 a0001c0002t0073g0053 a0002c0004t0001g0003 a0002c0004t0001g0007 a0002c0004t0001g0015 a0002c0004t0001g0016 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0043 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0153 a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0170 a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0184 a0002c0004t0001g0257 a0002c0004t0013g0003 a0002c0004t0013g0015 a0002c0004t0013g0156 a0002c0004t0013g0157 a0002c0004t0024g0016 a0002c0004t0028g0158 a0002c0004t0028g0171 a0002c0004t0030g0044 a0002c0004t0039g0041 a0002c0004t0040g0168 a0006c0008t0001g0166 a0006c0008t0001g0167 a0006c0008t0001g0169 a0011c0012t0038g0162 a0012c0013t0029g0172 a0014c0011t0001g0151	77	406	0.1897	311	c.88 others(322): Show c.8857_*8858insAATGTATTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCC	METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding		4172		chr7	TogoVar

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