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
CNN2_chr19_1021608_1044065	1034356	CACGGTGT others(799): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACG GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCT GGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTATACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGT GGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	388	0.0026	-806	c.390 others(16): Show c.390+1679_391-950del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DLGAP2_chr8_732628_1713476	1015227	CGGTGCCT others(799): Show CGGTGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACG ATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAG GACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	39	0.0256	-806	c.73+ others(19): Show c.73+107263_73+108068del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
HDHD5_chr22_17132520_17164277	17146445	AGGCCTTC others(799): Show AGGCCTTCGATCACACGCCATCGCACACGCTCCACACCTGTGGCGCCCTC CTGTGAGCTTACCGGCCTTCAATCACACGTCATCGCACACGCCCCACACC TGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCAC ACGCTCCACACCTGTGGCACACTCCTGTGAGCTTACAGGCCTTCGATCAC ACGTCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCG GCCTTCAATCACACATCATCGCACACGCCCCACACCTGTGACGCCCTCCT GTGAGCTTACCGGCCTTCAATCACACGTCATCGCACACGCCCCACACCTG TGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACAC GCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACAC GCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGC CTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGT GAGCTTACCGGCATTCGATCACACGCCATCGCACACGCCCCACACCTGTG ACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGTCATCGCACACGC CCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGC CATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCT TCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGA GCTTACC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG02071.hp2 others(6): Show HG01109.hp2 HG01167.hp1 HG02071.hp2 HG02602.hp1 HG04199.hp2 NA18952.hp1 NA18984.hp1 NA19064.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0152 a0001c0002t0001g0153 others(4): Show a0001c0002t0001g0027 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157	9	420	0.0214	-806	c.443 others(17): Show c.443+1197_444-1329del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
RAD52_chr12_906736_954694	919619	TGGGCGCC others(799): Show TGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCGCT TGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACT CCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAAAAAAAAAAATC TGGGCTCAGCGTGGTGGCTCACGCCTGTAATCCCAACACCTTGGGAGGCC GAGGTGGGCGGATCATCTGAGGTTAAGAGTCCAAGATCAGCCTGACCAAC ATGGTGAAACCCCCTCTCTACAAAATACAAAAAATTAGCTGGGTGTGGTG GCACACACCTGTAGTCCTAGCTAGTTGGGAGGCTGAGGTAGAAGAATTGC CTGAACCTGGGAGGCAGAGATGGCAGTGAGCCGAGATCACACAATTGCAC CCCAGCCTGGGCAACAAGAGCAAAAACTCTGTCTCAAAAAAAAAAAAAAT TAGCCGGGCATGGTAGCACGCACCTGTAGTTCCAGCTACTCAGGAGGCTG AGGCAGGAGAACTGCTTGAACCCAGGAGGCAAAGGATGCAGTGAGCCAAG ATCGCACCACTGCACTCTAGCCTGGGCGGCAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAATTGTTATAGGAGACGAGAGTATTATATAATGATAAG AATGTCAGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCATTTTGGGA GGCCGAGGTGGGCAGATCACGAGGTCAGGATATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(156): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0061 a0001c0008t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(138): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0223 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0064 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0224 a0001c0001t0003g0321 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0333 a0001c0001t0003g0335 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0348 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0009g0105 a0001c0001t0009g0121 a0001c0001t0009g0122 a0001c0001t0009g0123 a0001c0001t0009g0130 a0001c0001t0009g0148 a0001c0001t0009g0150 a0001c0001t0009g0153 a0001c0001t0009g0159 a0001c0001t0009g0164 a0001c0001t0009g0170 a0001c0001t0009g0174 a0001c0001t0011g0014 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0011g0108 a0001c0001t0011g0109 a0001c0001t0011g0142 a0001c0001t0011g0178 a0001c0001t0011g0349 a0001c0001t0011g0350 a0001c0001t0014g0062 a0001c0001t0014g0088 a0001c0001t0014g0100 a0001c0001t0014g0101 a0001c0001t0014g0168 a0001c0001t0015g0220 a0001c0001t0015g0221 a0001c0001t0015g0337 a0001c0001t0015g0345 a0001c0001t0015g0346 a0001c0001t0019g0113 a0001c0001t0019g0136 a0001c0001t0019g0158 a0001c0001t0019g0172 a0001c0001t0021g0051 a0001c0001t0021g0052 a0001c0001t0021g0053 a0001c0001t0022g0334 a0001c0001t0022g0336 a0001c0001t0022g0343 a0001c0001t0026g0156 a0001c0001t0026g0157 a0001c0001t0027g0137 a0001c0001t0027g0186 a0001c0001t0030g0129 a0001c0001t0030g0185 a0001c0001t0031g0059 a0001c0001t0031g0354 a0001c0001t0032g0048 a0001c0001t0033g0125 a0001c0001t0034g0107 a0001c0001t0035g0119 a0001c0001t0036g0106 a0001c0001t0037g0120 a0001c0001t0038g0344 a0001c0001t0039g0329 a0001c0001t0040g0104 a0001c0001t0041g0332 a0001c0001t0061g0056 a0001c0008t0003g0322	159	398	0.3995	-806	c.544 others(17): Show c.544-3605_544-2800del	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding	7/11			chr12	TogoVar
RIPK1_chr6_3063494_3120187	3090764	ACCTACCT others(799): Show ACCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAG AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGTACCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	333	0.0030	-806	c.915 others(17): Show c.915+1166_915+1971del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092621	CGCGCCTA others(799): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCA GAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAA CCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	289	0.0035	-806	c.915 others(17): Show c.915+3517_915+4322del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	GCCCCAGT others(799): Show GCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACTGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATG CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0043 a0001c0005t0002g0043	1	74	0.0135	-806	c.224 others(18): Show c.2241+836_2241+1641del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
ARHGEF10_chr8_1818926_1963641	1888130	TTTGCGAG others(798): Show TTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTG GGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGA CAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTT CTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTT GACTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAGG TGATAGTTTTGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAGT GTGGAGGGCTGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTGAGGAGAC ACTGAGTGGGGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGAGGGGTCT GTGAGGAGACGCTGAGTGGGGTGAGGTATGGGGAGACACTGAGTGGGGTG TGAGGGGTCTGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGAGGAAACA CAGAGTGTGGTAAGGGTCCTGAGGAAACACTGAGTTGGGTGAGGGTTTGT GAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGTG AGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGA GTGGGGTGAGTATTGTGAGGAGACACTGAGTGGGGTGAGAGTTATGAGGA GACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAGTGGGGTGAGAGT TATGAGGAGACACTGAGTTGGGTGAGGGTTGTGAGGAGACAGTGGGGTGA GGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18948.hp1 NA18967.hp1 others(7): Show HG00597.hp2 NA18948.hp1 NA18967.hp1 NA18967.hp2 NA18980.hp1 NA18990.hp2 NA19070.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0015 a0001c0043 a0001c0155 others(5): Show a0001c0015 a0001c0043 a0001c0155 a0001c0156 a0006c0099 a0007c0053 a0007c0147 a0007c0148	a0001c0015t0001 a0001c0043t0002 a0001c0043t0014 others(6): Show a0001c0015t0001 a0001c0043t0002 a0001c0043t0014 a0001c0155t0006 a0001c0156t0002 a0006c0099t0002 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002	a0001c0015t0001g0238 a0001c0043t0002g0106 a0001c0043t0014g0262 others(7): Show a0001c0015t0001g0238 a0001c0043t0002g0106 a0001c0043t0014g0262 a0001c0155t0006g0129 a0001c0156t0002g0006 a0006c0099t0002g0087 a0007c0053t0001g0005 a0007c0053t0001g0014 a0007c0147t0002g0004 a0007c0148t0002g0003	10	360	0.0278	-805	c.118 others(19): Show c.1182+2425_1182+3229del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25494040	GAGGCAGA others(798): Show GAGGCAGAGTGCTCAAAGTGAAGGGGCTGGGGTAGGGCGGAGAGTTTGAG GAGAGAGAACGGTTGGAACAGCCAGGATGGTGCATGGGGCAGGGAGCTGT CCAAGGTCTGTGGCACCAAGAACCTAGGTGACATCAGAAAACACATGTGG GTCAATGTCTGTTAAGGGACCCACTTAGAATTGCTGTGTTGAATAATGTA CTTCCGTTTCTTAATCCTTTGGTGATTAAAAAAATTACAAGGAAAAGATC AGTCTGGGTCTGCTGCATTTAATTGTGTGTATAGTAGATGTAATCTCCAA GGTGGGCGGTGGGGGTAGTTGGAGGGATCGCTTTGACCTTTCTGCCACTG CAGAGACTCCTGCTGCCAATATTGAAACAATCATAAATATCTTATTAGGT TTCCTGGGAACAAAGCCATGCTGCAAAGGGTATGAAAGCCTGTTTGGCAG GGATGAAGGTAGGAAGGATTATATGAAAAGAGAGGAGACTGTGGGGACAC AGCCCGCTTTTCTGTTTGTTTGCCTGCTTGTTTGTTTTTATGAGGGGCAG GCTCTGTGGTATCTGCATCTATATTTTAGAAGCGCGTTGCTGTTGTTCTG ATATTCACAGGGCCTTCATCTGTGTTTAAAAAACTGAAAACATAAGGATA AAAACTGATTTGAAGCTTCTGACATTTTTATAATTGTTTTCAAACACAGT TAACAGCATCTTCCCTTTTACTGTTTTGGACACCTTCTGTCCGAATCCTT CTAGCTGTGAGCGAATTCGACTTTGTAATGATTTCTTTTTTCACAGTGAT GTCAGC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	120	0.0083	-805	c.221 others(19): Show c.221+24921_221+25725del	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRSK2_chr11_1384934_1467689	1430304	CGGTCTGG others(798): Show CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04228.hp2 HG03942.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0067 a0001c0001t0018 a0001c0001t0067	a0001c0001t0018g0331 a0001c0001t0067g0247 a0001c0001t0018g0331 a0001c0001t0067g0247	2	355	0.0056	-805	c.92- others(15): Show c.92-5568_92-4764del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CALM1_chr14_90392029_90413268	90410082	TTTTTGAG others(798): Show TTTTTGAGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGT GATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGCAATTCTCCTG CCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACACCACCACGTCTGG CTAATTTTTGTATTTTTAATAGAGACGGAGTTTCACTATGTTGGCGAGGC TGGTTTTGAACTCCTGACCTCAGGTCATCTGTCCGCCTTGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGTCACTGTACCCAGCCCCAGATAGTCTTT TCAATATCATATCTTAGTTTTATTTTCAGTTTTACAAAGGCTAAAAGGAA AATCCAGAGTTTCCTCTAGCAATATAATTATTTGAACATTTTGTTACAAC AAGATCTTTAGATCCTGGCTGTATGTAAGCATGTTTGCTTTTAAACTGAT TTTTCATTTTGAGTCTTTGTATACCCTTCAAGTTGTGATTTTTTTTAAGT TACTGCATTTTTTAGCAAAAGATAGATTTTTTCCTGCATAGACATATCAG AATCAAGATTTGAGATAGATTGTTTTAAAAATGGAAAATAAGTAAAAAAG TAATTATAAAATCATATCTTAGTTAAAAGGAACAGGTCATATAGGTAAAA CTTCCTCTGAGTGCAGGTATCCATATCTGGTGATTCTCAAACTTGGAATA CTTCTAACACTGGACATCTAATCCTGTTTCCACAAGGCAGAACTTGGGCT TTCTCCCTTTCAATGACAAGAAGTTAATTAACAGCCCATTCCCATTTTTA TTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19085.hp1 NA19055.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0026 a0001c0001t0010g0019 a0001c0001t0010g0026	2	406	0.0049	-805	c.53 others(11): Show c.5366_*6170del	CALM1	ENSG00000198668.14	transcript	ENST00000356978.9	protein_coding		1815		chr14	TogoVar
DLGAP2_chr8_732628_1713476	1013661	CGCCTCCA others(798): Show CGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATG ACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGC CTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGA CCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTC CACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACT GTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAG ACGGCGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGATGCCTCCACTGCGTGAGACCAGGACAGACGAT GCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGT GACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGAC CAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCT CCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACC AGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCATTG TGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACA GACGGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-805	c.73+ others(19): Show c.73+105710_73+106514del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FOXQ1_chr6_1307098_1319758	1318790	GGCCGGGC others(798): Show GGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAA GGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACAT GGAGAAACCCCGTCACTACTAAAAATAAAAAATTAGCCGGGCGCGGTGGC GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAA GACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAA TTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAAC ATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTG GCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCAC CTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTC ACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTT CAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACA AAATTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0000 a0004c0020t0001g0000	1	393	0.0025	-805	c.48 others(11): Show c.4875_*5679del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4033		chr6	TogoVar
NRXN3_chr14_78165373_79873291	79514843	GCTTCTCT others(798): Show GCTTCTCTTTAAAAAGTGTTGGAATGATGCGTTTTCTCTCACCGATTCTG TCTAGGGGGTAATGTGCTAGGGTGCAGTAAGTTAAGTGTTAGTCACATAT TTGCAGGGTTAAATCTTAGTTCCACAGCTGACTCACTGCACACTCTAGGC AGAATTATTTAACTCCTTCAGTCTTTGTTTCCTCATTCAAAAAAGAAAGA GAGATACTATCTGTGGCAGAGCCTCAGAGGATTGAGGGAGTTAAATGTAA AAATGACACACTGGTGCCTGTTACAGGGAGGGCTCCCTGAGAAGCAGACC TGTGGGCTAAGTTTAGCATGCAGGATGTTTATTAAGGTGTGCCTTTGAGA TCAATACCTGTGAAAAGTAGGGAAAGAAAGCAGATGAGGCATAGGGAAAA GGTGGACTGCCACAGGCAACCCAGCGAACCTCACCAGCAGCTCTGGAGCT AAAATAGCTCTTCAGAATTGTCCAGAGTTGGGCTGAGGAGGCCAGAATTT TATTTGTGTTCCCACGATGATGACTCAGTGGATGGGGTCATTTCAGGAAG AGAGCAGGGCATCAACCTTGAGCAAGAAAGGTCACTGCAGCTTAGTCTAA CCCTGAAGAGGCTGGCAGCTCAGGGCATCTGTTGACAGTATTCCAAGGAG GCAGGGCGACTAGAACTTTAGCAAAGGAAGATGGCACATCACAGTGATCA TCACAGTCCCCAGTCATAAAGAGTAGTTTCTTACATGTGCATACCCCTTA GCCTTGTTTTCATTTCTCCTCCTCCCGCCTTCCTGTCTTCCTCTTCCTCT CCCTTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp2 HG02257.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0010 a0001c0007t0002 a0001c0001t0010 a0001c0007t0002	a0001c0001t0010g0006 a0001c0007t0002g0010 a0001c0001t0010g0006 a0001c0007t0002g0010	2	24	0.0833	-805	c.344 others(21): Show c.3444+47445_3444+48249del	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACAP3_chr1_1287391_1312930	1288793	CCCCGTGT others(797): Show CCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	261	0.0038	-804	c.39 others(11): Show c.3967_*4770del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar
AFDN_chr6_167821911_167977023	167940651	ATGTGGAC others(797): Show ATGTGGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAACCATCCACA GGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGC CATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGT GGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGG GTGAGGGTGGAAGCCATCCACAGGAGACATATGGACAGACACAGAGAGAT GTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACAC AGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGG ACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAG GTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAAC CATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAGG GTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGG ATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGGTGTGT GGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAG AGGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(67): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02717.hp1 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA19009.hp1 NA19064.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0014	a0001c0001 a0002c0012 a0003c0008 others(2): Show a0001c0001 a0002c0012 a0003c0008 a0005c0019 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0002c0012t0001 a0002c0012t0002 a0003c0008t0002 a0005c0019t0002 a0014c0017t0002	a0001c0001t0001g0001 a0001c0001t0001g0214 a0001c0001t0001g0216 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0002g0007 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0097 a0001c0001t0002g0126 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0306 a0001c0001t0003g0098 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0006g0005 a0001c0001t0015g0196 a0002c0012t0001g0037 a0002c0012t0002g0263 a0003c0008t0002g0246 a0003c0008t0002g0251 a0003c0008t0002g0252 a0005c0019t0002g0258 a0014c0017t0002g0234	70	323	0.2167	-804	c.310 others(19): Show c.3100-2451_3100-1648del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATP10A_chr15_25673712_25868327	25758121	CGACCACC others(797): Show CGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGATCCACCCTAACTCAT TCCAATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTTACTCATTCTGATCACCTGCTCCACCCTAACTC ATTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0001 a0030c0043t0001	a0030c0043t0001g0041 a0030c0043t0001g0041	1	296	0.0034	-804	c.654 others(19): Show c.654+22094_655-21981del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
KCNG2_chr18_79792938_79905100	79885976	AACATAGG others(797): Show AACATAGGGACGTGGGGACAGGAACATGGGGACACAAGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACG GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGG GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGG GATGGGAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGG ACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGG ACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGA CATGGGGACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGG ACAGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG06807.hp2 others(1): Show HG02572.hp1 HG03130.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	4	308	0.0130	-804	c.625 others(19): Show c.625-13059_625-12256del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
MLF1_chr3_158566194_158611456	158569738	ATTTTCGA others(797): Show ATTTTCGAAATTTTGTGTATATGTTCTCTGAGCTTTATTCTGAGTCCAGA GGAAAAGAAAATATCCTCTTTCCTGGATGGGCTGTGCCATCTCATCTTGG GCTGTGAAGTCTGCCCTACCCCATGCCACCAGTCTCAGGGGAAGGAAGCT GCCAGAGAACTTGGCTAAAAAAGGGGGATGGGGAGTAAAAGATCCAAACG ATTAAATTTCCAGCTCTCAAAATAACCCCTGACTACTCCTGTCACCTCCA AATCAGGGCTTGCACACTTCTTCATGCTGGCAAAGTGCCACCCCTCTGGC CTGATCCCAGGGGGCCCTGATGAGCTATGGACGCCCCTTTATCTCTGCAA GACAGCCACGTAGAGAAGCTGGGGAGCTCACTGAATTAAGGGTGGACATG CAAGATGTATTTTCTCTTTTCTTATACTCTTACCATTCTTCTCCTTAATC TCTCTTCTGTCTTCCCCTCCATCTGTCTCCAGGCTCCTGAAAGGCCCCGT GATAGTGTTTTCTAAAACTTAGTAATTTGAGTACCACTATCACGATGTTC CTCTCCCCTGCTCTGCCTACCCCTCCGCCCCACCATATCCAAATTCCACC TGTTCTATTTGATAGCTTACTTTTTCACTTAAAAATGCAAAATCTAGCTC TTGATGTATATCACTGATTTAAATTTAAAATCAGTTTCCTTGCCATAAAT AGAAAGCTCCCTGATAAATGTAATGCAAATAAAAACATATAGTAGTGGAA TTTTAGTTGGATATGGCTGCTTGCTGCAGGCCTGTGCCTGAAACCTGCTG TTAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0055 a0002c0002t0004g0055	1	378	0.0026	-804	c.-15 others(10): Show c.-1562_-759del	MLF1	ENSG00000178053.21	transcript	ENST00000466246.7	protein_coding		1455		chr3	TogoVar
RPH3AL_chr17_207389_357807	255190	CGTCTGTC others(797): Show CGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCA TCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCT ATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGAC TACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCC ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTC CATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGC ACGGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	121	0.0083	-804	c.439 others(17): Show c.439-8709_439-7906del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255216	TGTGACTA others(797): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTGTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTGTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTA CGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTA GGAAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01361.hp1 HG01496.hp1 HG00544.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0004t0001g0048 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0004t0001g0048	3	101	0.0297	-804	c.439 others(17): Show c.439-8735_439-7932del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257092	CGTGACTA others(797): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTG TCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTA GGAAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 NA19079.hp1 HG02559.hp1 HG03516.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0006 a0001c0001t0002 a0001c0001t0006 a0001c0002t0006	a0001c0001t0002g0109 a0001c0001t0006g0095 a0001c0002t0006g0060 a0001c0001t0002g0109 a0001c0001t0006g0095 a0001c0002t0006g0060	3	93	0.0323	-804	c.439 others(18): Show c.439-10611_439-9808del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SEC11A_chr15_84664544_84721139	84699704	AGCTTGAG others(797): Show AGCTTGAGCCCAGGAGTTCAAGACCTGCCTGGGCAATACAGCAAGATCCC CGTTCTCCACGGAAAAAGAAAAAAACAAAGACACACACACACAAAAAAAA GAACTGGGAGTTCAGGGAGGCAAAAGCAATGATCAGTGCATGCATGTGAG GGGACTCCTGAGGATGGAAAAACAACCATCTAAAAGCAGCGGATGGAACA ATTCTCACAGCTCTTATGGCGTAAGAATAGTTTGTTTCCACCAGACAGAG TGGAAATCTTCACGGGGCTTTGGATTAGAGTACTCAGAAAGGTATTACTC ACTTGTAGTGCAAAATTAGCCACAGACTAAAGGCCGCTCTGGATCCATCT AACAAAGCTTCACAAGAGCTTGAGAAGACCAAACTGTTTCCAACTAACTT GCCTGTAACCCAGAATAAAGCTCAAGAATATTTATGCAAATCCAAACATA TCCAGCACCCAAAAAGGTAAAATTCACAAAGTCTGGCAACCAATAAAAAA CTACCAGACATGCAAAGAGGCAAGAAAATATGACCTATAATGAGAAAAAT CAATAAACAGAAACAGACCCAGAAATGGCAGAAATTATAGGATTAGTAGA AAGGGATATTTGCTGGGCGAGGTGGCTTATGCCTGTAATCCCAGAACTTT AGGAGGCCAAGGCGGGCAGATCACATGGTCAGGAGTTCTAGACTGGCCTG GCCAACATGGTAAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGG CATGGTGGCGCATGCCTGTAGTCCTAGCTAATCAGGAGGCTGAGGCAGGA GAATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 NA20129.hp2 HG02055.hp1 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0181 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0181	3	318	0.0094	-804	c.52- others(15): Show c.52-8864_52-8061del	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
BRSK2_chr11_1384934_1467689	1430353	GTCTGGTC others(796): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0322 a0002c0002t0058g0322	1	358	0.0028	-803	c.92- others(15): Show c.92-5686_92-4884del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CCDC200_chr17_43216420_43233623	43232820	TGCCAGTG others(796): Show TGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCAGGCCTTGGTCTAGCGG TGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACTACGCA GCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGGGAGGA AAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAACACCGC ATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGGACACA GGGAGGGGAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGCAAGGG GAGAGAGAGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAAACCTA GACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTACCTAT GTTCCAAACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAGGGGGT GGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGAGAGAG AGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGGAGAGA CAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAAAGGTC GCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAAAGGAG GAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGACAGCGT GCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	332	0.0030	-803	c.-50 others(11): Show c.-5069_-4267del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		4198		chr17	TogoVar
CPNE7_chr16_89570758_89602246	89592280	CTGGGATT others(796): Show CTGGGATTACAGGTGTGAGCCGCCGCGCCCGGCCCAAAATAATTTTAAAC TCACCAAAAAGTTACAAGAGCTCTGAGGTCCTGCAACCCGTGAGGCCAAC AGCTGCTCACACATTGCGCTCCTGCTTCACGTCTGTGTAGTTGTTGTATT TGTATGTTTTCTTTTTCAATTTTTTTTTTTTTTTTTGAGATAGAGTCCTG CTCTGTCACCCAAGCTGTAGTGGTGCAATCTCGGCTCACTGCAAGCTCCA CCCTCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTACAGGCTCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACAGTCTTGGCCAGGCTGGTCTTAAACTCCTGACCTTGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCA CCGCGCCCAGCCCAAATTTTTTTTATTGTGATAAAATATGCACAGTTTAA AATTTACCATTGTAACCATTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTT GAGATGGAGTTTTACTCTTGTCACCCAGGCTGGAGTGCAGTGACGTGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTC AGCCTCCTGAGTAGCTGGGAGTACAGGCGCCCGCCACCATACCCGGCTAA TTTTTATATTTTTGTAGAGATGGGGTTTCACTGTCTTGGCCAGGCTGGTC TCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCT GGGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	346	0.0029	-803	c.130 others(19): Show c.1302+1046_1302+1848del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
IDI1_chr10_1034419_1054119	1046767	CTGTCTAC others(796): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGGT CCTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	436	0.0023	-803	c.140 others(17): Show c.140+1294_140+2096del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
AFDN_chr6_167821911_167977023	167940393	GTGAGGGT others(795): Show GTGAGGGTGGAAGCCATCCACAGGAGACGTGTGGACAGACACAGAGGGAT GTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACAC AGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGAGATGTGTGG ACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAG ATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCA CAGGAGACATGTGGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAAC CATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAGCCATCCACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGG GTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGG ATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATATGGACAGACAC AGAGAGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGG ACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAG ATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAG GGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0210 a0001c0007t0007g0210	1	324	0.0031	-802	c.310 others(19): Show c.3100-2724_3100-1923del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
DLGAP2_chr8_732628_1713476	1015293	CGGCGCCT others(795): Show CGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGA CGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	39	0.0256	-802	c.73+ others(19): Show c.73+107329_73+108130del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241806693	CCTCAGCC others(795): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCA GGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0199	1	312	0.0032	-802	c.25 others(11): Show c.2528_*3329del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2407		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346235	CGGGAGGA others(795): Show CGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAA CAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGG AGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAA CAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAG GACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCG GACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTG GCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAG GACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTG GACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTG GCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGA CCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGA CCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG04199.hp1 others(1): Show HG01257.hp1 HG01258.hp2 HG04199.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0099 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0146	4	263	0.0152	-802	c.466 others(17): Show c.466-2078_466-1277del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
NEU4_chr2_241804193_241822413	241806693	CCTCAGCC others(795): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCA GGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	318	0.0031	-802	c.-25 others(11): Show c.-2584_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2499		chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79919511	CAGGAACC others(795): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGG TCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGG AGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAA CCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGG TCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAG ACA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	226	0.0044	-802	c.392 others(15): Show c.392-913_392-112del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920323	GGAGAGGT others(795): Show GGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAG GTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAG GAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGT GAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTC AGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCG AGT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	274	0.0036	-802	c.392 others(16): Show c.392-1725_392-924del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
BRSK2_chr11_1384934_1467689	1431158	GTCTGGTC others(794): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0151 a0002c0002t0020g0151	1	355	0.0028	-801	c.92- others(15): Show c.92-4881_92-4081del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
ADAM12_chr10_126007391_126393477	126056611	TACAATGC others(793): Show TACAATGCTTACTCTTGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCCCGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAA TGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTTCCCTAAAACTTAGAGT ATAATAAAAAAAAAATTAAAAAACAAAAAAACAAAAAAACAAAAAAAAAA A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(107): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03654.hp1 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18972.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19063.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0012 a0013 a0014 a0015 a0016	a0001c0002 a0001c0003 a0001c0004 others(36): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0020 a0001c0021 a0001c0031 a0001c0034 a0001c0036 a0001c0038 a0001c0042 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0015 a0002c0017 a0002c0023 a0002c0024 a0002c0049 a0002c0050 a0002c0052 a0002c0053 a0002c0054 a0002c0055 a0003c0018 a0003c0028 a0004c0047 a0006c0044 a0009c0039 a0010c0035 a0012c0056 a0013c0057 a0014c0058 a0015c0051 a0016c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 others(62): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0002t0016 a0001c0002t0033 a0001c0002t0041 a0001c0003t0004 a0001c0003t0005 a0001c0003t0030 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0020 a0001c0004t0035 a0001c0004t0040 a0001c0008t0001 a0001c0008t0002 a0001c0008t0034 a0001c0010t0001 a0001c0010t0002 a0001c0012t0012 a0001c0014t0003 a0001c0014t0004 a0001c0014t0005 a0001c0020t0017 a0001c0020t0043 a0001c0021t0017 a0001c0031t0002 a0001c0034t0001 a0001c0036t0004 a0001c0038t0005 a0001c0042t0003 a0002c0001t0001 a0002c0001t0007 a0002c0005t0004 a0002c0005t0005 a0002c0006t0001 a0002c0006t0002 a0002c0006t0006 a0002c0006t0007 a0002c0006t0021 a0002c0007t0002 a0002c0007t0007 a0002c0015t0002 a0002c0017t0002 a0002c0017t0016 a0002c0023t0023 a0002c0024t0005 a0002c0049t0006 a0002c0050t0006 a0002c0052t0004 a0002c0053t0013 a0002c0054t0001 a0002c0055t0003 a0003c0018t0004 a0003c0028t0015 a0004c0047t0006 a0006c0044t0036 a0009c0039t0006 a0010c0035t0004 a0012c0056t0025 a0013c0057t0006 a0014c0058t0012 a0015c0051t0004 a0016c0030t0001	a0001c0002t0001g0147 a0001c0002t0002g0022 a0001c0002t0002g0203 others(107): Show a0001c0002t0001g0147 a0001c0002t0002g0022 a0001c0002t0002g0203 a0001c0002t0002g0222 a0001c0002t0015g0088 a0001c0002t0015g0209 a0001c0002t0016g0014 a0001c0002t0033g0106 a0001c0002t0041g0233 a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0234 a0001c0003t0004g0238 a0001c0003t0004g0244 a0001c0003t0005g0130 a0001c0003t0005g0227 a0001c0003t0005g0230 a0001c0003t0030g0079 a0001c0004t0001g0237 a0001c0004t0002g0023 a0001c0004t0002g0025 a0001c0004t0002g0092 a0001c0004t0002g0111 a0001c0004t0002g0131 a0001c0004t0002g0224 a0001c0004t0002g0232 a0001c0004t0006g0026 a0001c0004t0006g0107 a0001c0004t0006g0239 a0001c0004t0020g0017 a0001c0004t0020g0195 a0001c0004t0035g0243 a0001c0004t0040g0090 a0001c0008t0001g0105 a0001c0008t0002g0028 a0001c0008t0002g0098 a0001c0008t0002g0146 a0001c0008t0002g0220 a0001c0008t0034g0015 a0001c0010t0001g0143 a0001c0010t0001g0145 a0001c0010t0002g0091 a0001c0012t0012g0192 a0001c0012t0012g0205 a0001c0014t0003g0080 a0001c0014t0004g0229 a0001c0014t0005g0236 a0001c0020t0017g0196 a0001c0020t0043g0208 a0001c0021t0017g0109 a0001c0021t0017g0110 a0001c0031t0002g0206 a0001c0034t0001g0128 a0001c0036t0004g0030 a0001c0038t0005g0093 a0001c0042t0003g0086 a0002c0001t0001g0007 a0002c0001t0001g0043 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0007g0153 a0002c0005t0004g0044 a0002c0005t0004g0057 a0002c0005t0004g0072 a0002c0005t0004g0180 a0002c0005t0005g0037 a0002c0005t0005g0155 a0002c0005t0005g0159 a0002c0005t0005g0168 a0002c0006t0001g0050 a0002c0006t0001g0167 a0002c0006t0002g0040 a0002c0006t0002g0070 a0002c0006t0002g0142 a0002c0006t0006g0163 a0002c0006t0006g0171 a0002c0006t0006g0177 a0002c0006t0007g0178 a0002c0006t0021g0062 a0002c0007t0002g0048 a0002c0007t0002g0063 a0002c0007t0002g0067 a0002c0007t0002g0179 a0002c0007t0007g0176 a0002c0015t0002g0125 a0002c0017t0002g0071 a0002c0017t0002g0184 a0002c0017t0016g0189 a0002c0023t0023g0096 a0002c0023t0023g0161 a0002c0024t0005g0069 a0002c0024t0005g0175 a0002c0049t0006g0094 a0002c0050t0006g0148 a0002c0052t0004g0053 a0002c0053t0013g0061 a0002c0054t0001g0011 a0002c0055t0003g0019 a0003c0018t0004g0077 a0003c0018t0004g0240 a0003c0028t0015g0235 a0004c0047t0006g0165 a0006c0044t0036g0197 a0009c0039t0006g0210 a0010c0035t0004g0116 a0012c0056t0025g0002 a0013c0057t0006g0188 a0014c0058t0012g0010 a0015c0051t0004g0034 a0016c0030t0001g0113	110	250	0.4400	-800	c.160 others(19): Show c.1609+7395_1610-6943del	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1700964	CCAATACA others(793): Show CCAATACACTCAATCCCACTCCACCGGGAGACCAGGCACTCGCCAACACA CACAATCCCACTCCACCAGGAGACCAGGCGCTCGCCAATACACTCAATCC CACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCTAC CAGGAGACCGGGCACTCGCCAATACACACAATCCCACTCCACCGGGAGAC CAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACCAGGCACT CACCAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATA CACGCAATCCCACTCCACCGGGAGACCAGACGCTAGTCAATACACGCAAT CCCACTCCACCAGGAGACCGGGCACTCGCCAATACACGCAATCCCACTCC ACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGGAG ACCAGGCGCTCGCCAATACACGCAATCCCACTCCACCGGGAGACCAGGCG CTCGCCAATACACTCAATCCCACTCCACCGGGAGACCAGGCATTCTCGCC AACACACACAATCCCACTCCACCAGGAGACCAGGCGCTCGCCAATACACT CAATCCCACTCCACCAGGAGACCAGGCGCTAGTCAATACACGCAATCCCA CTCTACCAGGAGACCGGGCACTCGCCAACACACACAATCCCACTCCACCG GGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACCA GGCACTCGCCAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTAG T	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02965.hp1 HG02258.hp2 HG02886.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0040 a0002c0002t0005 a0001c0001t0001 a0001c0003t0040 a0002c0002t0005	a0001c0001t0001g0065 a0001c0003t0040g0073 a0002c0002t0005g0028 a0001c0001t0001g0065 a0001c0003t0040g0073 a0002c0002t0005g0028	3	106	0.0283	-800	c.100 others(19): Show c.100+35287_100+36086del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
CROCC2_chr2_240901336_240998311	240907750	CCTCTACC others(793): Show CCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA G	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0051 a0051	a0051c0051 a0051c0051	a0051c0051t0001 a0051c0051t0001	a0051c0051t0001g0087 a0051c0051t0001g0087	1	339	0.0029	-800	c.78+ others(15): Show c.78+1309_78+2108del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766005	GTTGGGGA others(793): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0166 a0001c0001t0008g0166	1	403	0.0025	-800	c.130 others(18): Show c.1307-1627_1307-828del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766105	CTTGGGGA others(793): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG01884.hp1 HG02809.hp2	a0002 a0005 a0002 a0005	a0002c0009 a0005c0018 a0002c0009 a0005c0018	a0002c0009t0008 a0005c0018t0008 a0002c0009t0008 a0005c0018t0008	a0002c0009t0008g0095 a0005c0018t0008g0325 a0002c0009t0008g0095 a0005c0018t0008g0325	2	396	0.0051	-800	c.130 others(18): Show c.1307-1354_1307-555del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPH7_chr9_137549444_137583925	137567702	CGTGAGGA others(793): Show CGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC T	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	282	0.0035	-800	c.641 others(17): Show c.641-3348_641-2549del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DVL1_chr1_1330278_1354418	1349974	TGGGAGGA others(793): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG03516.hp1 others(1): Show HG02145.hp2 HG02622.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	4	89	0.0449	-800	c.-17 others(10): Show c.-1709_-910del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		557		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350401	CGGGCAGG others(793): Show CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG03225.hp1 HG02258.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0026 a0001c0001t0001g0079	3	309	0.0097	-800	c.-21 others(11): Show c.-2136_-1337del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		984		chr1	TogoVar
EXOC2_chr6_480154_698139	601195	TCCCCTTG others(793): Show TCCCCTTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTA CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC A	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02970.hp2 others(3): Show HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03139.hp1 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 others(2): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0004t0002	a0001c0003t0002g0155 a0001c0003t0003g0161 a0001c0003t0003g0169 others(3): Show a0001c0003t0002g0155 a0001c0003t0003g0161 a0001c0003t0003g0169 a0001c0003t0007g0157 a0001c0003t0009g0149 a0001c0004t0002g0156	6	230	0.0261	-800	c.743 others(17): Show c.743-2770_743-1971del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
GRTP1_chr13_113319163_113369130	113346265	CGGGAGGA others(793): Show CGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTC TGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGG AAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAG CAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTG TGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGG AGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAG TGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAG GACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCG GACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTG GACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAG GACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCG GACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGA CCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATC T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	269	0.0037	-800	c.466 others(17): Show c.466-2106_466-1307del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
MXRA8_chr1_1347691_1363555	1349974	TGGGAGGA others(793): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG03516.hp1 others(1): Show HG02145.hp2 HG02622.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	92	0.0435	-800	c.28 others(11): Show c.2830_*3629del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2716		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350401	CGGGCAGG others(793): Show CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03209.hp1 HG03225.hp2 others(1): Show HG02258.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0009 a0001c0001t0017	a0001c0001t0009g0013 a0001c0001t0017g0060 a0001c0001t0009g0013 a0001c0001t0017g0060	4	301	0.0133	-800	c.24 others(11): Show c.2403_*3202del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2289		chr1	TogoVar
SDHA_chr5_213320_262082	260654	TCAGAGCA others(793): Show TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCT CCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGC CTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTAC CGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCC CGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTC ACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCT CCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	252	0.0040	-800	c.42 others(11): Show c.4235_*5034del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3573		chr5	TogoVar
SERAC1_chr6_158104519_158173262	158127234	TGAAAAAT others(793): Show TGAAAAATGAACATATCTCGGCCCCCCCGCCCAGCCAGCCGCCCTGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGTCCGGCCACCACCCC GTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAAT GGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAA ATTGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTT TCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGA TCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCC ACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACA GATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCT CAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCT AGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCC ACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAG AATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAA A	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(337): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0003c0005 a0004c0004 a0005c0007 a0006c0008 a0007c0010 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0003t0007 a0001c0003t0009 a0002c0006t0003 a0002c0006t0017 a0003c0005t0006 a0004c0004t0001 a0004c0004t0006 a0005c0007t0002 a0006c0008t0021 a0007c0010t0006 a0008c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0015 others(285): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0310 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0004g0048 a0001c0001t0004g0052 a0001c0001t0005g0003 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0006g0020 a0001c0001t0006g0179 a0001c0001t0008g0005 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0010g0031 a0001c0001t0010g0314 a0001c0001t0011g0224 a0001c0001t0011g0237 a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0013g0034 a0001c0001t0015g0060 a0001c0001t0016g0169 a0001c0001t0018g0209 a0001c0001t0020g0077 a0001c0001t0022g0313 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0028 a0001c0002t0003g0030 a0001c0002t0003g0035 a0001c0002t0003g0238 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0249 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0312 a0001c0002t0004g0004 a0001c0002t0004g0027 a0001c0002t0004g0268 a0001c0002t0004g0272 a0001c0002t0004g0274 a0001c0002t0014g0311 a0001c0003t0007g0178 a0001c0003t0007g0181 a0001c0003t0007g0182 a0001c0003t0007g0183 a0001c0003t0007g0186 a0001c0003t0007g0188 a0001c0003t0009g0180 a0001c0003t0009g0184 a0001c0003t0009g0185 a0002c0006t0003g0250 a0002c0006t0003g0251 a0002c0006t0017g0256 a0003c0005t0006g0009 a0004c0004t0001g0023 a0004c0004t0006g0177 a0005c0007t0002g0240 a0005c0007t0002g0241 a0006c0008t0021g0036 a0007c0010t0006g0187 a0008c0009t0001g0112	340	364	0.9341	-800	c.101 others(16): Show c.1015+74_1015+873del	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79909643	TCCTCACC others(793): Show TCCTCACCATAGAGTCCCCAACCTTCCCCACCATCTCACAACAGAGTCCC CAACCTTCCCCACCATCTCACAACAGAGTCCCCAACCTTCCCCACCACCT CACCAGAGTCCCCAACCTTCCCCACATCCTCACCATAGAGTCCCCAACCT TCCCCACCATCTCACAAGAGTCCCCAACCTTCCCCACCACCTCACCAGAG TCCCCAGGCTTCCCCACCATCTCACCACAGAGTCCCCAACCTTCCCCACA CCCTCACCATAGAGTCCCCAACCTTCCCCACCATCTCACCACAGTCCCCA ACCTTCCCCACAACCTCACCAGAGTCCCCAGCCTTCCCTACAACCTCACC AGAGTCCCCAGCCTTCCCCACACCCTCACCAGAGTCCCCAGACTTCCCCA CACCCTCGCCAGAGTCCCCAGCCTTCCCCACCATCTCACCAGTCTCCAAC CTTCCCCACACCCTCACCATAGAGTCCCCAACCTTCCCCACACCCTCACC AGAGTCCCCAACCTTCCCCACATCCTCACCATAGAGTCCCCAACCTTCCC CACATCCTCACCATAGAGTCCCCAACCTTCCCCACATCCTCACCATAGTC ACCAACCTTCCCCACCATCTCACACCAGAGTCCCCAACCTTCCCCACCAC CTCACCAGAGTCCCCAACCTTCCCCACCACCTCACCAGAGTCCCCAACCT TCCCCACCACCTCACCAGAGTCCCCAACCTTCCCCACCACCTCACCAGAG TCCCCAGGCTTCCCTACCATCTCACAACGGAGTCCCCAACCTTCCCCACA C	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0272 a0001c0001t0021g0271 a0001c0001t0007g0272 a0001c0001t0021g0271	2	342	0.0058	-800	c.609 others(17): Show c.609-6260_609-5461del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar

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