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
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(441): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGGCAG AGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGGACAGAAGCGCTCCTCAC ATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGG CGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCTGGACAGAA GCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01978.hp2 others(39): Show HG00609.hp1 HG00621.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02083.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp1 NA18973.hp1 NA18984.hp2 NA18985.hp1 NA18999.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0028 a0001c0001t0033 a0001c0001t0042 a0001c0002t0001 a0001c0002t0006 a0001c0002t0029 a0001c0003t0011 a0001c0003t0013 a0001c0005t0003	a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0040 others(39): Show a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0063 a0001c0001t0002g0076 a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0004g0003 a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0102 a0001c0001t0005g0135 a0001c0001t0005g0140 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0157 a0001c0001t0008g0025 a0001c0001t0010g0027 a0001c0001t0015g0004 a0001c0001t0017g0075 a0001c0001t0022g0005 a0001c0001t0028g0024 a0001c0001t0033g0156 a0001c0001t0042g0188 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0006g0143 a0001c0002t0006g0181 a0001c0002t0029g0002 a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095 a0001c0005t0003g0052	42	188	0.2234	448	c.-74 others(465): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCAGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAACTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTGGG GAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCC CGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCCCG TCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(441): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGGCAG AGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGTACAGAAGCGCTCCTCAC ATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGG CGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCCGGACAGAA GCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18962.hp1 NA18954.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0175 a0001c0002t0006g0176 a0001c0002t0006g0175 a0001c0002t0006g0176	2	188	0.0106	448	c.-74 others(465): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTACGGCCGCCCCA TCTGGGAACTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTGGG GAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCC CGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCCCG TCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(441): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTTCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGGCAG AGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGGACAGAAGCGCTCCTCAC ATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGG CGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCTGGACAGAA GCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0056 a0001c0002t0001g0057	2	188	0.0106	448	c.-74 others(465): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCAGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAACTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTGGG GAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCC CGGCCACCCATCATCTGGAAAGTGAGGAGCACCTCTGCCCGGCCACCCCG TCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416204	C C	CGGCCGGG others(441): Show CGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATGGGTGGCCGGGCAG AGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCAC TTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCGGCCAGGCAG AGATGCTCCCCACTTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCAG TTCCCAGATGGGGCGGCCGTACAGAAGCGCTCCTCACATCCCAGACGGGG CGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGGCGGCCAGGCAGAG GCGCTCCTCACTTCCCAGATGGGGCAGCCGGACAGAAGCGCTCCTCACAT CCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01975.hp1 others(18): Show HG00609.hp2 HG00639.hp1 HG01975.hp1 HG01981.hp2 HG02071.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG03209.hp1 HG03579.hp1 NA18959.hp1 NA18977.hp1 NA18978.hp1 NA18999.hp2 NA19004.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 a0001c0002t0036 a0001c0003t0037 a0001c0005t0005	a0001c0001t0002g0022 a0001c0001t0002g0061 a0001c0001t0003g0059 others(18): Show a0001c0001t0002g0022 a0001c0001t0002g0061 a0001c0001t0003g0059 a0001c0001t0004g0045 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0127 a0001c0001t0007g0134 a0001c0001t0008g0017 a0001c0001t0010g0037 a0001c0002t0001g0029 a0001c0002t0001g0046 a0001c0002t0001g0066 a0001c0002t0001g0112 a0001c0002t0006g0153 a0001c0002t0006g0154 a0001c0002t0006g0160 a0001c0002t0036g0164 a0001c0003t0037g0136 a0001c0005t0005g0137 a0001c0005t0005g0138	21	188	0.1117	448	c.-74 others(465): Show c.-74-3217_-74-3216insTCCCCGTCTGGGAGATGGGGAGCGCCTC TGCCCGGCTGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCC CATCTGGGAAGTGAGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTG GGGAGCATCTCTGCCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTG TACGGCCGCCCCATCTGGGAACTGAGGAGCGCCTCTGCCCGGCCGCCCCA TCTGGGAAGTGGGGAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTG CCCGGCCACCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCG TCTGGGAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTG AGGAGCGCCTCTGCCCGGCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416204	C C	CGGCCGGG others(441): Show CGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATGGGTGGCCGGGCAG AGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCAC TTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCGGCCAGGCAG AGATGCTCCCCACTTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTTAG TTCCCAGATGGGGCGGCCGTACAGAAGCGCTCCTCACATCCCAGACGGGG CGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGGCGGCCAGGCAGAG GCGCTCCTCACTTCCCAGATGGGGCAGCCGGACAGAAGCGCTCCTCACAT CCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00738.hp1 others(18): Show HG00544.hp2 HG00621.hp2 HG00738.hp1 HG01109.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02055.hp1 HG02273.hp1 HG02809.hp2 HG04204.hp1 NA19056.hp1 NA19063.hp1 NA19079.hp1 NA19081.hp2 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0023 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0080 a0001c0001t0002g0130 a0001c0001t0002g0131 others(18): Show a0001c0001t0001g0080 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0005g0145 a0001c0001t0005g0152 a0001c0001t0005g0155 a0001c0001t0005g0166 a0001c0001t0005g0178 a0001c0001t0005g0184 a0001c0001t0007g0162 a0001c0001t0007g0180 a0001c0001t0008g0047 a0001c0001t0008g0091 a0001c0001t0010g0099 a0001c0001t0010g0129 a0001c0001t0023g0132 a0001c0001t0034g0148 a0001c0001t0035g0179 a0001c0002t0001g0090 a0001c0002t0001g0128 a0001c0002t0006g0151	21	188	0.1117	448	c.-74 others(465): Show c.-74-3217_-74-3216insTCCCCGTCTGGGAGATGGGGAGCGCCTC TGCCCGGCTGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCC CATCTGGGAAGTGAGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTG GGGAGCATCTCTGCCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTG TACGGCCGCCCCATCTGGGAACTAAGGAGCGCCTCTGCCCGGCCGCCCCA TCTGGGAAGTGGGGAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTG CCCGGCCACCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCG TCTGGGAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTG AGGAGCGCCTCTGCCCGGCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416230	C C	CCCAGATG others(441): Show CCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGG CAGCCGGGCAGAGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAG GTGCTCCTCACTTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCAT CTCCCAGACGGGGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGG CGGCCGGGCAGAGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGGACAGAA GCGCTCCTCACATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTT CCCAGACGGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCA GCTGGACAGAAGCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGC GCTCCCCATCTCCCAGACGGGGCGGCTGGGCAGAGGTGCTCCTCACTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	188	0.0053	448	c.-74 others(465): Show c.-74-3243_-74-3242insAAAGTGAGGAGCACCTCTGCCCAGCCGC CCCGTCTGGGAGATGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGATG TGAGGAGCGCTTCTGTCCAGCTGCCCCATCTGGGAAGTGAGGAGCGCCTC TGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTGCCCGGCCGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCATCTGGGAACTG AGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTGGGGAGCATCTCTG CCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCCCGGCCACCCAT CATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCCCGTCTGGGAAGTG GGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGGGAGCGCCTCTG CCCGGCCACCCATCATCTGG	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENPP3_chr6_131632302_131752410	131716707	G G	GCCTGTAA others(441): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCACCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCAGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	278	0.0036	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCACCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCAGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131716707	G G	GCCTGTAA others(441): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCACCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(143): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19088.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0005c0007 a0007c0013 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 a0002c0006t0002 a0005c0007t0002 a0007c0013t0001 a0008c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(143): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0211 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0005g0234 a0001c0002t0001g0062 a0001c0002t0001g0069 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0136 a0001c0002t0001g0204 a0001c0002t0001g0278 a0001c0002t0002g0106 a0001c0002t0002g0107 a0002c0003t0002g0053 a0002c0003t0002g0208 a0002c0003t0002g0213 a0002c0003t0002g0222 a0002c0003t0002g0231 a0002c0003t0002g0252 a0002c0006t0002g0017 a0002c0006t0002g0218 a0002c0006t0002g0225 a0005c0007t0002g0269 a0007c0013t0001g0123 a0008c0016t0002g0029	146	278	0.5252	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCACCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131716707	G G	GCCTGTAA others(441): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCACCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 NA20752.hp1 HG00733.hp1 HG01081.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0004g0162 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0004g0162	3	278	0.0108	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCACCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTGCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131716707	G G	GCCTGTAA others(441): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03041.hp1 others(3): Show HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 others(3): Show a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 a0004c0004t0001g0037 a0004c0004t0001g0173 a0004c0004t0001g0188	6	278	0.0216	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGCTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131716707	G G	GCCTGTAA others(441): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(113): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00642.hp2 HG00673.hp1 HG01123.hp1 HG01192.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18964.hp2 NA18970.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0010 others(10): Show a0001c0001 a0001c0002 a0001c0010 a0001c0019 a0002c0006 a0003c0005 a0003c0008 a0005c0007 a0005c0012 a0009c0018 a0010c0017 a0011c0015 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0010t0001 a0001c0019t0001 a0002c0006t0002 a0003c0005t0001 a0003c0005t0002 a0003c0008t0002 a0005c0007t0002 a0005c0012t0002 a0009c0018t0002 a0010c0017t0001 a0011c0015t0001 a0012c0011t0002	a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0001g0083 others(113): Show a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0192 a0001c0001t0001g0239 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0201 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0120 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0148 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0190 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0224 a0001c0002t0001g0230 a0001c0002t0001g0246 a0001c0002t0001g0251 a0001c0002t0001g0261 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0023 a0001c0002t0002g0027 a0001c0002t0002g0031 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0277 a0001c0002t0003g0169 a0001c0010t0001g0057 a0001c0010t0001g0068 a0001c0019t0001g0014 a0002c0006t0002g0052 a0003c0005t0001g0096 a0003c0005t0001g0097 a0003c0005t0001g0184 a0003c0005t0002g0186 a0003c0008t0002g0080 a0003c0008t0002g0081 a0003c0008t0002g0095 a0005c0007t0002g0270 a0005c0012t0002g0271 a0009c0018t0002g0025 a0010c0017t0001g0114 a0011c0015t0001g0094 a0012c0011t0002g0006	116	278	0.4173	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131716707	G G	GCCTGTAA others(441): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTTGGGCTGGGCATGGTGGCTCACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02451.hp2 HG02886.hp1	a0006 a0006	a0006c0009 a0006c0014 a0006c0009 a0006c0014	a0006c0009t0001 a0006c0014t0002 a0006c0009t0001 a0006c0014t0002	a0006c0009t0001g0193 a0006c0014t0002g0115 a0006c0009t0001g0193 a0006c0014t0002g0115	2	278	0.0072	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTTGGGCTGGGCATGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131716707	G G	GCCTGTAA others(441): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCCCCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTTGGGCTGGGCATGGTGGCTCACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0066 a0006c0009t0001g0066	1	278	0.0036	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTG TCCAGGCTGGTCTCCAGCTCCTAGGCTCAAGTGATCCCCCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTTGGGCTGGGCATGGTGGCTCACAC CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131716708	C C	CCTGTAAT others(441): Show CCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCAGATCGCCTGAGGT CAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACTA AAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCTA CTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAGG TTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAG TGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTGT CCAGGCTGGTCTCCAGCTCATAGGCTCAAGTGATCCACCCACCTTGGATT CCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAATA AAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG01891.hp1 HG02622.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0002 a0005c0007t0002 a0001c0002t0002 a0005c0007t0002	a0001c0002t0002g0007 a0005c0007t0002g0275 a0001c0002t0002g0007 a0005c0007t0002g0275	2	278	0.0072	448	c.141 others(467): Show c.1413-1942_1413-1941insAGCTGAGGGGGGCAGATCGCCTGAGG TCAGGAGTTCCAGACCAGCCTGACCAACATGGAGCAACTCCGTCTGTACT AAAAATACAGAATTAGCTTGGCGTGGTGGCACATGCGTGTAGTCCCAGCT ACTCGGGAGGCTGAAGCAGGAGAATTGCTTTCTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGA GTGAAACTCTGTCTCAAAAACAAAAGAGGAGATGGAGTCTTGCTATGTTG TCCAGGCTGGTCTCCAGCTCATAGGCTCAAGTGATCCACCCACCTTGGAT TCCTAAAGTGCTGGGATTACAGGTGTGAGCCATCATTCCCAGCTGAGAAT AAAAACACTTTTTAAAACCTATTGTTCGGGCTGGGCATGGTGGCTCACAT CTGTAATCCCAGCACTTTGGGA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
EVC2_chr4_5557439_5713559	5706405	G G	GATACATA others(441): Show GATACATAGATAGATACATAGATACATAGATAGACAGATAGATAGATACA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGA TAGATACATAGATACATACATAGATAGATAGATACATACATACATACATA CATACATACATAGATACAGATAGATAGATACATAGATACATAGATACATA GATAGATAGATACATACATACATACATACATAGATACATAGATAGATAGA TAGATACATAGATAGATAGATACATAGATACATACATAGATAGATAGATA CATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACA TAGATAGATAGACACATAGATAGATACATAGATAGATAGATAGATACAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	292	0.0034	448	c.228 others(465): Show c.228+1880_228+1881insATGTATCTATCTATCTATCTATGTATCT ATCTATGTGTCTATCTATCTATGTATCTATCTATCTATGTATCTATGTAT CTATCTATCTATCTATCTATGTATCTATCTATCTATGTATGTATCTATGT ATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATGTATGTAT GTATGTATGTATCTATCTATCTATGTATCTATGTATCTATGTATCTATCT ATCTGTATCTATGTATGTATGTATGTATGTATGTATGTATCTATCTATCT ATGTATGTATCTATGTATCTATCTATCTATCTATCTATCTATCTATGTAT CTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATCTATGT ATCTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATCTATGTAT CTATGTATCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706449	C C	CATAGATA others(441): Show CATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATACATAGATACATACATAGATAGATAGATACATACATACATACATACA TACATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGATA GATACATACATACATACATACATACATAGATACATAGATAGATAGATAGA TAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATACATA CATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGATACATA GATAGATAGATACATAGATACATAGATAGATAGATACATAGATACATAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0234 a0003c0006t0001g0234	1	292	0.0034	448	c.228 others(465): Show c.228+1836_228+1837insCTATGTATCTATGTATCTATCTATCTAT GTATCTATGTATCTATCTATCTATGTATCTATCTATGTGTCTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATGTATCTATCTATCTAT GTATCTATCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCT ATGTATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTATGTAT GTATGTATGTATGTATGTATCTATCTATCTATCTATGTATCTATGTATCT ATCTATCTATGTATCTATGTATGTATGTATGTATGTATGTATCTATCTAT CTATGTATGTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCT ATCTATCTATGTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT CTATCTATGTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706405	G G	GATACATA others(441): Show GATACATAGATAGATACATAGATACATAGATAGACAGATAGATAGATACA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGA TAGATACATAGATACATACATAGATAGATAGATACATACATACATACATA CATACATACATAGATACAGATAGATAGATACATAGATACATAGATACATA GATAGATAGATACATACATACATACATACATAGATACATAGATAGATAGA TAGATACATAGATAGATAGATACATAGATACATACATAGATAGATAGATA CATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACA TAGATAGATAGACACATAGATAGATACATAGATAGATAGATAGATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0306 a0002c0003t0005g0306	1	369	0.0027	448	c.-49 others(459): Show c.-4976_-4975insATACATAGATAGATACATAGATACATAGATAGAC AGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATAGATACATAGATAGAT AGATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGATAC ATACATACATACATACATACATACATAGATACAGATAGATAGATACATAG ATACATAGATACATAGATAGATAGATACATACATACATACATACATAGAT ACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACATAC ATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATACAT AGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAG ATAGATAGATACAT	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4795		chr4	TogoVar
EVC_chr4_5706201_5819305	5706449	C C	CATAGATA others(441): Show CATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATACATAGATACATACATAGATAGATAGATACATACATACATACATACA TACATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGATA GATACATACATACATACATACATACATAGATACATAGATAGATAGATAGA TAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATACATA CATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGATACATA GATAGATAGATACATAGATACATAGATAGATAGATACATAGATACATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0009 a0009	a0009c0089 a0009c0089	a0009c0089t0044 a0009c0089t0044	a0009c0089t0044g0074 a0009c0089t0044g0074	1	369	0.0027	448	c.-49 others(459): Show c.-4932_-4931insATAGATAGATACATAGATAGATAGATAGATACAT AGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAG ATACATAGATAGATAGATACATAGATACATACATAGATAGATAGATACAT ACATACATACATACATACATAGATACATAGATAGATAGATACATAGATAC ATAGATAGATAGATAGATACATACATACATACATACATACATAGATACAT AGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAG ATACATAGATACATACATAGATAGATAGATAGATACATAGATAGATAGAT ACATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGACAC ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT ACATAGATACATAG	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4751		chr4	TogoVar
FBXO40_chr3_121588379_121635295	121588763	A A	AAAAAAAA others(441): Show AAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGTGGAG GTTGCAGTGAGCTGAGGTCGCACCACTGCACTCCAGCCTGGACAACAGAG CAAGACTCTGTCTCAAAAAAAAAATAAAAAATAAAAAATAAAAAATAAAA GAAACATAAGATAAGTACCTCTCAATGAAAAATGTAAAAGTACCTAGAAA TTCACAAAAAAATTAATACCTCTGTGGAGAAAACTTCAAAACTTAAAAAA GGACATAGAAAATGTTTTGAATAGGCCAGGCGCAGTGGCTCACACCTGTA ATCCCAGCACGTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGAT CAAGACCATCCTGGCCAACATGGTGAAATCCTGCCTCTACTAAAAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02257.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	2	408	0.0049	448	c.-47 others(459): Show c.-4770_-4769insAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAC ACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGA ACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGGTCGCACCACTGCACTCCA GCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAAAATAAA AAATAAAAAATAAAAGAAACATAAGATAAGTACCTCTCAATGAAAAATGT AAAAGTACCTAGAAATTCACAAAAAAATTAATACCTCTGTGGAGAAAACT TCAAAACTTAAAAAAGGACATAGAAAATGTTTTGAATAGGCCAGGCGCAG TGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCAGATC ACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAATCCTGCC TCTACTAAAAATAC	FBXO40	ENSG00000163833.8	transcript	ENST00000338040.6	protein_coding		4615		chr3	TogoVar
FLT4_chr5_180596506_180654600	180635721	A A	ATGCATGG others(441): Show ATGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGGTGGAT GGAAGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATGTATGG AAGTATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGATGGAT GGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGG AAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGAT GGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGG ATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCAT GGATGGATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTAGGTGG ATGGATGCATGGATTGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0013 a0005c0018t0013	a0005c0018t0013g0167 a0005c0018t0013g0167	1	388	0.0026	448	c.59- others(463): Show c.59-3944_59-3943insCCCACCCACCCACCCACCCATCCACCCATA CTTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACC CATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCA TCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATC CACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACCCATC CACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCACCCA CCCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACCCATA CTTCCATGCATCCATGCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FTCD_chr21_46131779_46160579	46145758	T T	TCCCCCTC others(441): Show TCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGC CCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAAC AACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTC CCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTC CCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACA GCGCCTTCCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACA GCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCC CCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTTC CCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	230	0.0044	448	c.109 others(463): Show c.1098+59_1098+60insGAGGGCGCTGTTGGGGGGAGGGCGCTGTTG GGGGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGG GGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCA GTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCG CGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGG AGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGG GGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGG GGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGC GGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGG GGGAGGGCGGGGAGGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(441): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTATATATACACTATA TATATAGAGTATATATACACTATATATATAGTATATATACACTATATATA TAGTATATATACACTATATATATAGTATATATACACTATATATACACTAT ATATGTATATATATACATATATAGTGTATATATAGTGTATATATACACTG TATATGTATATATAGTGTATATATACACTATATATACACTGTATATGTAT ATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATAT ATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACAC TGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03492.hp1 NA18957.hp2 others(2): Show HG02040.hp1 HG03492.hp1 NA18957.hp2 NA18967.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0191 a0001c0001t0009g0043 a0001c0001t0009g0091	5	204	0.0245	448	c.114 others(467): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTA TATATACACTATATATACATATACAGTGTATATATACACTATATATACAC TATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACT ATATATATAGTGTATATATACTATATATATAGTGTATATATACTATATAT ATAGTGTATATATACTCTATATATATAGTGTATATATACTATATATATAG TGTATATATACTATATATAGTGTATATATACTATACATATATAGTGTATA TATAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(441): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTATATATACACTATA TATATAGAGTATATATACACTATATATATAGTGTATATACACTATATATA TAGTATATATACACTATATATATAGTATATATACACTATATATACACTAT ATATGTATATATATACATATATAGTGTATATATAGTGTATATATACACTG TATATGTATATATAGTGTATATATACACTATATATACACTGTATATGTAT ATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATAT ATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACAC TGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01192.hp1 others(1): Show HG01074.hp1 HG01099.hp1 HG01192.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0155 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0188	4	204	0.0196	448	c.114 others(467): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTA TATATACACTATATATACATATACAGTGTATATATACACTATATATACAC TATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACT ATATATATAGTGTATATATACTATATATATAGTGTATATACACTATATAT ATAGTGTATATATACTCTATATATATAGTGTATATATACTATATATATAG TGTATATATACTATATATAGTGTATATATACTATACATATATAGTGTATA TATAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALNT9_chr12_132191372_132334589	132241441	C C	CCTTCCCT others(441): Show CCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCACACCACCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTACAGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCTGGGGACCT CCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTCCCTATCCCC ATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTCCCGGGGCCGTCCCTATACCCATTAAACACA CAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACA CACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	183	0.0055	448	c.107 others(467): Show c.1077+6468_1077+6469insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGACGGCCC CGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGAAGGGG GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTG GCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGG GTATAGGGACGGCCAAGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242063	C C	CCACACCC others(441): Show CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTAAACACACAACACACCCCC TTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTCCC AGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGCCC TCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTA CACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACAC ACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0103 a0001c0003t0001g0103	1	183	0.0055	448	c.107 others(467): Show c.1077+5846_1077+5847insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTG TGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGT GTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAAT GGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTA TAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGG AGGGCCCCGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(441): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGCTGGGCAGG CTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGGGAGG CTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGGGGG CTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0015 a0004c0004t0003g0015	1	236	0.0042	448	c.148 others(465): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCCCAGCCTCCCCAGCCTCCC CAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCTCCCC AGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCTTCCC AGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCC AGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCCCAGC CTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCCCCAA CCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(441): Show TCCCGTCCTTCCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCT CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTCCCCTCCT TTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCCACCTCCTTCCGCCTC CCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCT CCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCC CCCTTCCCCACCTTCCCCCTCCCCCTTCCCCCTCCTTCCCCCTCCCTCCC CCTTCCCCCTCCCCACCTTCCCTGTCCCCCCTCCTTCCCCCTTTCCCCCT CCCCTCCTTCCCCTTTCCCATTCCCCTCCTTCCCCTTTCCCCCTTCCCCC TCCCCTCCTTCCCTCCCCCTTCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	290	0.0035	448	c.972 others(463): Show c.972+266_972+267insGTCCTTCCCCCCTCCCCTCCTTCCCCCTCC CCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCC TTCCCCTTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCC CACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCC CCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCC TCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCCTC CTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCCTCC TTCCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCATTCCCCTCCTTCCC CTTTCCCCCTTCCCCCTCCCCTCCTTCCCTCCCCCTTCCCCTTCCCTCCT TCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(441): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCTCTCCTTCCCCCCCCCTCCTTCCCCCTCCCCTCCTTC CCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCACC TCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCT TCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCC CCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCC CTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCC CCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCC CCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	290	0.0035	448	c.972 others(463): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCCCCCTCCTT CCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACC TCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCT TCCCCTCCTTCCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCC CCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTC CCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCC CTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTT CCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCT TCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(441): Show TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCACATATAAATATATATA AATATACATGTATATTTATTCACATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	208	0.0048	448	c.-97 others(465): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATTTATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATAAATATA TATAAATATACATGTATATTTATTCACATATAAATATATATAAATATACA TGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(441): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAC GAGTCGCCCCTGGGATGGGTCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGCCACTCCTGGGACAGGTCACTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp2 HG01099.hp1 HG01361.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0008 a0017c0024t0025 a0017c0024t0008 a0017c0024t0025	a0017c0024t0008g0234 a0017c0024t0025g0233 a0017c0024t0008g0234 a0017c0024t0025g0233	2	308	0.0065	448	c.341 others(463): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGACGAGTCGCCCCTGGGATGGGTCACTCCTGGGACGAGTCGCCCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGCCACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(441): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACGAGT CGCCCCTGAGATGGGCCACTCCTGGGACAGGTCACTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0246 a0004c0004t0008g0246	1	308	0.0033	448	c.341 others(463): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTG GGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322752	A A	ACGGAATA others(441): Show ACGGAATATATATATATGGAATATATATACGGAATATATATATGGAATAT ATATACGGAATATGTATATGGAATATATATATATGGAATATGTATATGGA ATATATATATGGAATATATATATGGAATATATATACATGGAATATATATA TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATGGAATATATACACAT GGAATATATATATGGAATATATACACATGGAATATATATATATGGAATAT ATACACATGGAATATATATATGGAATATATACACATGGAATATATATATG GAATATATACACATGGAATATATATATGGAATATATACATATGGAATATA TATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	323	0.0031	448	c.-23 others(459): Show c.-2304_-2303insCGGAATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATGTATATGGAATATATATATATG GAATATGTATATGGAATATATATATGGAATATATATATGGAATATATATA CATGGAATATATATATGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT GGAATATATACACATGGAATATATATATGGAATATATACACATGGAATAT ATATATATGGAATATATACACATGGAATATATATATGGAATATATACACA TGGAATATATATATGGAATATATACACATGGAATATATATATGGAATATA TACATATGGAATATATATATGGAATATATACGTATGGAATATATATATGG AATATATACGTATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2217		chr21	TogoVar
IQSEC3_chr12_61767_183455	163211	C C	CCCCTCCA others(441): Show CCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCC CTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCG GACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0178 a0003c0010t0019g0178	1	282	0.0036	448	c.258 others(465): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	G G	GTGTCACT others(441): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTGGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0233 a0001c0001t0038g0233	1	276	0.0036	448	c.80 others(457): Show c.802_*803insAACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACA AACACACACTGAAGGCCTGAGGAAGACCAGATGTCACAGAGGTCCACTCA GTGACAAACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	802		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173137	C C	CCCCTCCC others(441): Show CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCCTCTCC CCCTCCCCTCCCCCCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCT CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTC TCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCTCTCCTCCTCCTTCCCCCTGTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0006 a0004c0024t0006	a0004c0024t0006g0148 a0004c0024t0006g0148	1	158	0.0063	448	c.11 others(469): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCC CTCCCCTCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCCCCCTCTCTC TCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCCTTCCCTCTCC CCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCTCCTCCTT CCCCCTGTCTCTCTCTCTCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132186856	T T	TCGGGGGC others(441): Show TCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCC GGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGG GGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGG GCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGC GGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGG GGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGG CCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCC TGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTG CCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0032 a0002c0025t0032	a0002c0025t0032g0103 a0002c0025t0032g0103	1	158	0.0063	448	c.56 others(459): Show c.5603_*5604insCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCG GGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGG GGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGG CGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCG GGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGG GCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGC CTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCT GCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGC CGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCG GGGGCGGGGCCTGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		1999		chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(441): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAAC CTTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAATTT TTAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATT TAATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCAC TTTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAGC CTGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATTAGGC AGGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGTG GGAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCGC ACCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0184 a0003c0003t0001g0184	1	310	0.0032	448	c.448 others(467): Show c.448-14511_448-14510insTTTTTTAAGAGGAGGTTTCTCTCTGT TGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTAC CTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGAC TACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAAA CAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCGT TTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCACC ATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTTT AACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAGG TTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(441): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAACC TTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAATTTT TAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATTT AATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCACT TTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAGCC TGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATTAGGCA GGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGTGG GAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCGCA CCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18947.hp1 NA18960.hp2 NA18946.hp1 NA18947.hp1 NA18960.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0001 a0008c0009t0001 a0003c0003t0001 a0008c0009t0001	a0003c0003t0001g0168 a0003c0003t0001g0186 a0008c0009t0001g0194 a0003c0003t0001g0168 a0003c0003t0001g0186 a0008c0009t0001g0194	3	310	0.0097	448	c.448 others(467): Show c.448-14511_448-14510insTTTTTTTAAGAGGAGGTTTCTCTCTG TTGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTA CCTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGA CTACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAA ACAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCG TTTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCAC CATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTT TAACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAG GTTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(441): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTACAC ATATATATTCATATATATGTGTACACATATATTCATATATATGTGTACAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTGTATACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	322	0.0031	448	c.283 others(467): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTGTACACATATATATGAATATATGTG TACACATATATATGAATATATATGTGTACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATATATG AATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(441): Show TCCAAGAGGATATATATATATATCTCCAAGAGGATATATATATATACACA AGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAG AGGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	232	0.0043	448	c.-67 others(467): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATATCCAA GAGGATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATATCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
LRRC27_chr10_132327193_132386508	132364818	C C	CCTTACAT others(441): Show CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTTACAC CTACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACAC CCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTTAC ACCTACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACAATT ACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0013 a0002c0004t0010g0013	1	290	0.0035	448	c.129 others(465): Show c.1290-589_1290-588insACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTT ACACCTACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTT ACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACAC TTACACCTACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCAC AATTACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTC ATGCTTACATCTACCTCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1990702	C C	CCGCCACT others(441): Show CCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTG AGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGG TGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	264	0.0038	448	c.141 others(469): Show c.1417-10609_1417-10162dupCTCTGGTGGGGCAGGTGCTCAGGC ACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGC TCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGC AGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGG TGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCG CTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCA GTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGG CCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTC GTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCG GTGCTCGTGAGGCCAGCAGTGGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1991362	C C	CGCCCCAC others(441): Show CGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTG AGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGG TGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	264	0.0038	448	c.141 others(469): Show c.1416+10702_1416+10703insAGGTGCTCAGGCACCCAGCGGCGC TCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAG CGGCGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGC ACCCAGCGGCGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGC TCAGGCACCCAGCGGCGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGC GGGTGCTCAGGCACCCAGCGGCGCTCGTGAGGCCAGCAGTGGCGCTCTGG TGGGGCGGGTGCTCAGGCACCCAGCGGCGCTCGTGAGGCCAGCAGTGGCG CTCTGGTGGGGCGGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCA GTGGCGCTCTGGTGGGGCGGGTGCTCAGGCACCCAGCGGTGCTCGTGAGG CCAGCAGTGGCGCTCTGGTGGGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(441): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	448	c.-11 others(459): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTC others(441): Show TATAATTCTATGTAATTTTATATAGTTACATATAATTATCTGTAATTTTA TATAGTTATATATAATTATCTGTAATTTTATATAGTTATATATAATTATA TGTAATTTTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATA TATAGTTATAACTATATGTAGTTATATATAATTATATATAATTATATATA ATTTATATACTTATAAATATGTAATTATATATGTTATAATTATAAATATA TATAATATAAATATACAATACATTTTATATAATATATAATATATAGTATA ATACAAAATATACATTATAATATATTATATAAAAATATTATAATATATAA TAATATATATTATAATATATATAATATATATAATATATTATAATATATAT TATATATAGTATAATATATATATTATAATTTATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0031 a0007c0008t0001g0031	1	152	0.0066	448	c.299 others(469): Show c.2992-19616_2992-19615insAATTCTATGTAATTTTATATAGTT ACATATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATT TTATATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATT ATACGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATAT ATAATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTA TATATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTA TATAATATATAATATATAGTATAATACAAAATATACATTATAATATATTA TATAAAAATATTATAATATATAATAATATATATTATAATATATATAATAT ATATAATATATTATAATATATATTATATATAGTATAATATATATATTATA ATTTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATT others(441): Show TATATATTCATATATATATTCATATATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATATTCATATATAGATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATTCATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	191	0.0052	448	c.343 others(465): Show c.343-4348_343-4347insGAATATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATCTATATATGAATAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATATGAATCTATATATGAATATATATATAT GAATATATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(441): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0035 a0001c0001t0008g0035	1	191	0.0052	448	c.343 others(465): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATCTATATATGA ATATATATATGAATCTATATATGAATATATATGAATCTATATATGAATAT ATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(441): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	191	0.0052	448	c.343 others(465): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATCTATATATGAATATATATGAATCTATATATGAATAT ATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L_chr13_112964214_113104742	113011921	C C	CGGTGGAC others(441): Show CGGTGGACAGGCGGTGTGGACGGTGGACCCTGTGATGCGGACGGTGGACA GGTGGTGCGGACGGTGGACAGGCGGTGTGGACAGTGGACACTGTGATGCG GACGGTGGACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTGGA CAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTG TGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTG GACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACTGTG ATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACG GTGGACAGGCGGTGTGGACGGTGGACACTGATGCGGACGGTGGACAGGCG GTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	116	0.0086	448	c.80- others(463): Show c.80-2823_80-2822insCGGTGGACCCTGTGATGCGGACGGTGGACA GGTGGTGCGGACGGTGGACAGGCGGTGTGGACAGTGGACACTGTGATGCG GACGGTGGACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTGGA CAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTG TGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTG GACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACTGTG ATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACG GTGGACAGGCGGTGTGGACGGTGGACACTGATGCGGACGGTGGACAGGCG GTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGATG GTGGACAGGCGGTGTGGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(441): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	390	0.0026	448	c.112 others(465): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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