Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(280): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp2 others(5): Show HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01261.hp2 HG02258.hp1 HG02735.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0006 a0001c0001 a0001c0003 a0004c0006	a0001c0001t0002 a0001c0003t0001 a0004c0006t0001 a0001c0001t0002 a0001c0003t0001 a0004c0006t0001	a0001c0001t0002g0217 a0001c0003t0001g0047 a0001c0003t0001g0258 others(5): Show a0001c0001t0002g0217 a0001c0003t0001g0047 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0268 a0001c0003t0001g0279 a0001c0003t0001g0280 a0004c0006t0001g0324	8	267	0.0300	287	c.189 others(306): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTAGATTT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(280): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGC CCACCCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCC CTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCC TCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCC CAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0000 a0004c0003t0005g0000	1	114	0.0088	287	c.33 others(298): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCC TACCCCCTCCCCCGCCCACCCCCCCTCCCGCCCCCCTCCAGCCTACCCCT CCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCC CCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCG CCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FSTL5_chr4_161378897_162169000	162144964	T T	TTATACAA others(280): Show TTATACAATGAATACAATATATATTCATTGTATGTATATTCATATACAAT GAATACAATATATATTCATTGTATGTATATTCATATACAATGAATACAAT ATATATTCATTGTATGTATATTCATATACAATGAATACAATATATATTCA TTGTATGTATATTCATATACAATGAATACAATATATATTCATTGTATGTA TATTCATATACAATGAATACAATATATATTCATTGTATGTATATTCATAT ACAATGAATACAATATATATTCATTGTATGTATATTCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 NA18964.hp2 others(1): Show HG00438.hp1 HG00621.hp1 NA18964.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0012 a0001c0002t0018 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0018 a0002c0004t0001	a0001c0001t0001g0090 a0001c0001t0012g0089 a0001c0002t0018g0088 others(1): Show a0001c0001t0001g0090 a0001c0001t0012g0089 a0001c0002t0018g0088 a0002c0004t0001g0087	4	109	0.0367	287	c.-17 others(306): Show c.-17+18650_-17+18651insTGAATATACATACAATGAATATATAT TGTATTCATTGTATATGAATATACATACAATGAATATATATTGTATTCAT TGTATATGAATATACATACAATGAATATATATTGTATTCATTGTATATGA ATATACATACAATGAATATATATTGTATTCATTGTATATGAATATACATA CAATGAATATATATTGTATTCATTGTATATGAATATACATACAATGAATA TATATTGTATTCATTGTATATGAATATACATACAATGAATATATATTGTA TTCATTGTATA		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15						chr4	TogoVar
FSTL5_chr4_161378897_162169000	162145051	C C	CAATGAAT others(280): Show CAATGAATACAATATATATTCATTGTATGTATATTCATATACAATGAATA CAATATATATTCATTGTATGTATATTCATATACAATGAATACAATATATA TTCATTGTATGTATATTCATATACAATGAATACAATATATATTCATTGTA TGTATATTCATATACAATGAATACAATATATATTCATTGTATGTATATTC ATATACAATGAATACAATATATATTCATTGTATGTATATTCATATACAAT GAATACAATATATATTCATTGTATGTATATTCATATAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	140	0.0071	287	c.-17 others(306): Show c.-17+18563_-17+18564insCTATATGAATATACATACAATGAATA TATATTGTATTCATTGTATATGAATATACATACAATGAATATATATTGTA TTCATTGTATATGAATATACATACAATGAATATATATTGTATTCATTGTA TATGAATATACATACAATGAATATATATTGTATTCATTGTATATGAATAT ACATACAATGAATATATATTGTATTCATTGTATATGAATATACATACAAT GAATATATATTGTATTCATTGTATATGAATATACATACAATGAATATATA TTGTATTCATT		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15						chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241806841	C C	CCCTCCCC others(280): Show CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTC CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	310	0.0032	287	c.26 others(298): Show c.2675_*2676insCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2555		chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(280): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	380	0.0026	287	c.961 others(304): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(280): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01975.hp1 HG02074.hp2 others(15): Show HG00438.hp1 HG01975.hp1 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02738.hp1 NA18942.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18978.hp1 NA18979.hp2 NA18988.hp1 NA19002.hp1 NA19074.hp2 NA19081.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0006 a0001c0003t0009 others(2): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0009 a0001c0003t0016 a0001c0005t0001	a0001c0003t0001g0018 a0001c0003t0001g0042 a0001c0003t0001g0055 others(15): Show a0001c0003t0001g0018 a0001c0003t0001g0042 a0001c0003t0001g0055 a0001c0003t0001g0063 a0001c0003t0001g0066 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0098 a0001c0003t0006g0087 a0001c0003t0009g0071 a0001c0003t0009g0082 a0001c0003t0016g0073 a0001c0005t0001g0040 a0001c0005t0001g0051	18	397	0.0453	287	c.961 others(304): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(280): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCAAATACCACCACCACCATCATCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	380	0.0026	287	c.961 others(304): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCATCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(280): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCATCACCACCACCACTACCAC CACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0316 a0001c0002t0002g0316	1	380	0.0026	287	c.961 others(304): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TCACCACCACCACTACCACCACCACCAAATACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GNG8_chr19_46628953_46641202	46635646	G G	GTGGGGTG others(280): Show GTGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGGAG AGGATGGAGGAGATGGACGGATGGGGTGGGAGAGGATGGGGAGATGGAGG GAGGGGGTGTGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGG GGTGGGAGAGGATGGAGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGG ATGGAGGAGATGGACGGATGGGGTGGGAGAGGATGGGGAGATGGAGGGAG GGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGACGGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	287	c.-44 others(302): Show c.-44+500_-44+501insTCCGTCCATCTCCTCCATCCTCTCCCACCC CACACCCCCTCCCTCCATCTCCCCATCCTCTCCCACCCCATCCGTCCATC TCCTCCATCCTCTCCCACCCCACACCCCCTCCCTCCATCTCCTCCATCCT CTCCCACCCCACACCCCCTCCCTCCATCTCCCCATCCTCTCCCACCCCAC ACCCCCTCCCTCCATCTCCCCATCCTCTCCCACCCCATCCGTCCATCTCC TCCATCCTCTCCCACCCCACACCCCCTCCCTCCATCTCCCCATCCTCTCC CACCCCA		GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2						chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217524862	G G	GGAAGAGG others(280): Show GGAAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	149	0.0067	287	c.109 others(306): Show c.1099-9974_1099-9973insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTTC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(280): Show TTATATATAATAATATAAATAATATATAATATATATTATATATAATAATA TAAATAATATATAATATATATTATATATAATAATATAAATAATATATAAT ATATATTATATATAATAATATAAATAATATATAATATATATTATATATAA TAATATAAATAATATATAATATATATTATATATAATAATATAAATAATAT ATAATATATATTATATATAATAATATAAATAATATATAATATATATTATA TATAATAATATAAATAATATATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp2 others(9): Show HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00621.hp2 HG01255.hp1 HG01952.hp2 HG01975.hp1 NA18946.hp1 NA18968.hp1 NA18980.hp1 NA18998.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0072 a0001c0001t0001g0074 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0249 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0342 a0001c0001t0003g0239 a0001c0001t0003g0269 a0001c0001t0003g0301	12	203	0.0591	287	c.966 others(304): Show c.966+2363_966+2364insAATAATATAAATAATATATAATATATAT TATATATAATAATATAAATAATATATAATATATATTATATATAATAATAT AAATAATATATAATATATATTATATATAATAATATAAATAATATATAATA TATATTATATATAATAATATAAATAATATATAATATATATTATATATAAT AATATAAATAATATATAATATATATTATATATAATAATATAAATAATATA TAATATATATTATATATAATAATATAAATAATATATAATATATTATATAT AATATATAT		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(280): Show TTATATATAATAATATATATAATATATAATATATATTATATATAATAATA TAAATAATATATAATATATATTATATATAATAATATAAATAATATATAAT ATATATTATATATAATAATATAAATAATATATAATATATATTATATATAA TAATATAAATAATATATAATATATATTATATATAATAATATAAATAATAT ATAATATATATTATATATAATAATATAAATAATATATAATATATATTATA TATAATAATATAAATAATATATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	192	0.0052	287	c.966 others(304): Show c.966+2363_966+2364insAATAATATATATAATATATAATATATAT TATATATAATAATATAAATAATATATAATATATATTATATATAATAATAT AAATAATATATAATATATATTATATATAATAATATAAATAATATATAATA TATATTATATATAATAATATAAATAATATATAATATATATTATATATAAT AATATAAATAATATATAATATATATTATATATAATAATATAAATAATATA TAATATATATTATATATAATAATATAAATAATATATAATATATTATATAT AATATATAT		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAAGG others(280): Show AGGAAAGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGG AGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGGGAAGGG AAGGGAGGGAAGGGAAGGGTGGGAGGGGAGGGGGGAGCGGAAGGGAAGGG TCAGAGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGGGAGGAGAGAGGG AGGAGAGAGGGAGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGG GGAGGGGAGGGGTGGGGAAAAGGGAGGGGAAGGGCAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp1 HG02258.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0009g0055 a0001c0001t0009g0056	2	9	0.2222	287	c.169 others(308): Show c.1693-11006_1693-11005insCCTGCCCTTCCCCTCCCTTTTCCC CACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCCCCTCCCTTTCC CCTCCCTCTCTCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCCTCCCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCTT CCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCCC CCTCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCTC ACCCTCCCTTTCC		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7						chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(280): Show AGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGG AGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGGGAAGGG AAGGGAGGGAAGGGAAGGGTGGGAGGGGAGGGGGGAGCGGAAGGGAAGGG TCAGAGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGGGAGGAGAGAGGG AGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAGGGGAGGG GTGGGGAAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(53): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00642.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02723.hp1 HG03017.hp1 HG03225.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18971.hp1 NA18975.hp2 NA18981.hp1 NA18988.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0023 a0001c0001t0027 a0001c0001t0033 a0001c0001t0038 a0001c0001t0041 a0001c0001t0052 a0001c0001t0053 a0001c0001t0063 a0001c0001t0066 a0001c0001t0072 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0023 a0001c0008t0054 a0001c0008t0070	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(53): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0160 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0040 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0161 a0001c0001t0003g0014 a0001c0001t0003g0066 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0150 a0001c0001t0005g0100 a0001c0001t0005g0124 a0001c0001t0006g0156 a0001c0001t0012g0092 a0001c0001t0012g0108 a0001c0001t0023g0012 a0001c0001t0027g0001 a0001c0001t0033g0004 a0001c0001t0038g0097 a0001c0001t0041g0067 a0001c0001t0052g0122 a0001c0001t0053g0104 a0001c0001t0063g0134 a0001c0001t0066g0002 a0001c0001t0072g0095 a0001c0002t0002g0201 a0001c0002t0002g0208 a0001c0002t0007g0188 a0001c0002t0007g0191 a0001c0002t0008g0194 a0001c0002t0017g0224 a0001c0003t0002g0229 a0001c0003t0003g0234 a0001c0004t0001g0219 a0001c0004t0002g0214 a0001c0004t0005g0205 a0001c0004t0006g0199 a0001c0004t0006g0218 a0001c0004t0006g0220 a0001c0004t0023g0225 a0001c0008t0054g0020 a0001c0008t0070g0024	56	63	0.8889	287	c.169 others(308): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCCTCCCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCTT CCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCCC CCTCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCTC ACCCTCCCCTTCC		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7						chr11	TogoVar
HBQ1_chr16_175459_186179	182788	G G	GTGAAACA others(280): Show GTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGC GGGCGCCTGTAATCCCAGCTGTTCGGGAGGCTGAGGCAGGACAATCACTT AAACCAGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGAGCCACTGCACTC CAGCCTGGGCGACAGACCGAGACTGTCTCAAAAAAAAAGACCGGGCACGG TGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCTGATC ACGATGTCAGGAGATCTAGACCATCCTGGCCAACATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02809.hp2 others(1): Show HG02109.hp2 HG02572.hp1 HG02809.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0001 a0001c0001t0001g0005 a0001c0001t0002g0001	4	239	0.0167	287	c.16 others(298): Show c.1680_*1681insTGAAACACCGTCTCTACTAAAAATACAAAAATTA GCCAGGCATAGTGGCGGGCGCCTGTAATCCCAGCTGTTCGGGAGGCTGAG GCAGGACAATCACTTAAACCAGGGAAGCAGAGGTTGCAGTGAGCTGAGAT CGAGCCACTGCACTCCAGCCTGGGCGACAGACCGAGACTGTCTCAAAAAA AAAGACCGGGCACGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGC TGAGGCGGGCTGATCACGATGTCAGGAGATCTAGACCATCCTGGCCAACA TGT		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding					1610		chr16	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(280): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0017 a0001c0001t0019g0017	1	331	0.0030	287	c.234 others(302): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCGCTGTT CTTTCTT		HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27						chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399408	A A	ACCACCAT others(280): Show ACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCATCAC CATCATCACCACCACCACCACCACCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCATCACCACCATCAC CACCACCATCATCACCACCATCATCACCACCATCACCACCACCATCACCA CACCATCATCACCACCATCACCACCACCACCATCGCCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	302	0.0033	287	c.-25 others(304): Show c.-25+2494_-25+2495insTCACCACCGCCACCACCACCACCATCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCATCACCACCA CCATCACCACCATCACCACCACCATCACCACCGCCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CATCACCACCATCACCACCACCATCATCACCACCATCATCACCACCATCA CCACCACCATCACCACACCATCATCACCACCATCACCACCACCACCATCG CCGCCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HRH3_chr20_62209960_62225278	62213280	G G	GGGGAGGG others(280): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGGAA GGAGAGTGGGGATGGGTGGGGGAAGGAGAGTGGGGATGGGGGAAGGGAGA GCAGGGATGGGGGGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGG GGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGG GGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAAGG GAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	162	0.0062	287	c.27 others(298): Show c.2725_*2726insACCCATCCCCACTCTCCTTCCCCCCCATCCCTGC TCTCCCTTCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCCACTCTCC TTCCCCCCCATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCC ATCCCCGCTCTCCTTCCCCCACCCATCCCCGCTCTCCTTCCCCCCCATCC CTGCTCTCCCTTCCCCCATCCCCACTCTCCTTCCCCCACCCATCCCCACT CTCCTTCCCCCCCCATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCCCT CCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1679		chr20	TogoVar
IL18RAP_chr2_102418160_102457565	102425519	T T	TCAATAAA others(280): Show TCAATAAAACCCTAATTTCAGAAACATTCATTTCATAACCTTTAAAATGA GGTTAGTAAGAAGAGCCAATAGTTTTGTTCATTATTTTCAGTTCTCTCTC AAGAACAAAACTTCCTTTGGTTCAAAGTATCCGTCATCCAGGATGGCAGC TGTCTTGTTGTCTTGGTGGGCTGTTCTCAGGCCTGTAAAGCAGTCTTGTC CCCGTTATTTCAGATGAAAATGTGTTTGGCTTTTCAATGATCATACACCT GAAGTGAAAGCTATGAATTTTTACTTTTCAGGTGAGCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	404	0.0025	287	c.579 others(304): Show c.579+1109_579+1395dupTAAAACCCTAATTTCAGAAACATTCATT TCATAACCTTTAAAATGAGGTTAGTAAGAAGAGCCAATAGTTTTGTTCAT TATTTTCAGTTCTCTCTCAAGAACAAAACTTCCTTTGGTTCAAAGTATCC GTCATCCAGGATGGCAGCTGTCTTGTTGTCTTGGTGGGCTGTTCTCAGGC CTGTAAAGCAGTCTTGTCCCCGTTATTTCAGATGAAAATGTGTTTGGCTT TTCAATGATCATACACCTGAAGTGAAAGCTATGAATTTTTACTTTTCAGG TGAGCACAA		IL18RAP	ENSG00000115607.10	transcript	ENST00000687160.1	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(280): Show AATATATATATGATATATATATGAAATATATATATGATATATATATGAAA TATATATCATATATATATGAAATATATATATGATATATATATGAAATATA TATATCATATATATATGAAATATATATATGATATATGAAATATATATATG ATATATGAAATATATATATGATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGATATATATATGA AATATATATATGATATATATATGAGATATATATATGAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	54	0.0185	287	c.25- others(302): Show c.25-1970_25-1969insATGATATATATATGAAATATATATATGATA TATATATGAAATATATATCATATATATATGAAATATATATATGATATATA TATGAAATATATATATCATATATATATGAAATATATATATGATATATGAA ATATATATATGATATATGAAATATATATATGATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATATGAAATATATATATGATATATATATGAGATATATATATGATA TATATAT		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132161230	G G	GGTGGGCC others(280): Show GGTGGGCCTCTCCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTTGATGCT GGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGATGC TGGGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGA TGCTGGGGGGGGCCTCTCACTGTGTGATGCTGGGGGGGCCTCTTCCTGTG TGATGCTGGGGGCGTGTCTTTCTGTGTGATGCTGGGGGGGCCTCTTCCTG TGTGATGCTGGGGGGGGTCTATTCCTGTGTCTTATTGA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0030 a0001c0015t0001g0030	1	121	0.0083	287	c.222 others(306): Show c.2221-1978_2221-1977insTGGGCCTCTCCCTGTGTGATGCTGGG TGGGCCTCTCCCTGTTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGG GGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGTCTCCCTGTGTGATGCTG GGGGGGGCCTCTCACTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGAT GCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCTGTGTG ATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGT GTCTTATTGAG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNH1_chr1_210673314_211139148	210718378	G G	GCATATAT others(280): Show GCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTATATATTAAAATATATACATATATTTATATATAAAATATA TACATATATTTATATATATATAAATATATACATATATTTATATATATATA AATATATACATATATTTATATATATAAATATATACATATATTTATATATA TAAATATATACATATATTTATATATATAAATATATGTATATATTTATATA TATAAATATATACATATATTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18522.hp2 HG02258.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0142 a0001c0002t0001g0144	2	141	0.0142	287	c.211 others(308): Show c.2113-34241_2113-34240insTATATATTTATATATATAAATATA TGTATATATTTATATATATAAATATATACATATATTTATATATATAAATA TATGTATATATTTATATATATAAATATATGTATATATTTATATATATAAA TATATGTATATATTTATATATATATAAATATATGTATATATTTATATATA TATAAATATATGTATATATTTTATATATAAATATATGTATATATTTTAAT ATATAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATG CATTAAATATATG		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10						chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758770	T T	TATATATA others(280): Show TATATATATATATATCTCCTCTAGGAGAGATATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	204	0.0049	287	c.-67 others(306): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATA TATATATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB4_chr12_70361290_70439292	70395138	T T	TCCAGTAG others(280): Show TCCAGTAGATAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 HG01433.hp2 others(3): Show HG01175.hp1 HG01361.hp1 HG01433.hp2 HG02630.hp1 HG03453.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 others(3): Show a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0006g0276 a0001c0001t0007g0174 a0001c0001t0010g0294	6	345	0.0174	287	c.337 others(304): Show c.337-5054_337-5053insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCCAGTAGA TAATGTTTT		KCNMB4	ENSG00000135643.5	transcript	ENST00000258111.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
KDM4B_chr19_4964113_5158598	5131538	A A	AGGGGCAG others(280): Show AGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0012 a0011c0035t0012	a0011c0035t0012g0159 a0011c0035t0012g0159	1	237	0.0042	287	c.178 others(304): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGG GGGAGGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(280): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGG AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0066 a0002c0003t0014g0066	1	162	0.0062	287	c.178 others(304): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGG GGGAGGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228973	C C	CCACTCAC others(280): Show CCACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACC CGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATC CCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCAC CCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACC ACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACAC TCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0260 a0001c0002t0005g0260	1	350	0.0029	287	c.64+ others(304): Show c.64+11666_64+11667insTTTGGTGGTGGGGGGGTGGAGAGGGATC TTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTG AGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGG TGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGG GGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAG GGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTC GGGTGAGTG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KIAA1549_chr7_138826381_138986389	138878761	C C	CAAAAAAA others(280): Show CAAAAAAAAATATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTCCGCCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG03831.hp2 others(1): Show HG01243.hp2 HG01433.hp1 HG03831.hp2 NA20805.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0025 a0003c0006 a0004c0007 a0002c0025 a0003c0006 a0004c0007	a0002c0025t0079 a0003c0006t0074 a0003c0006t0077 others(1): Show a0002c0025t0079 a0003c0006t0074 a0003c0006t0077 a0004c0007t0001	a0002c0025t0079g0094 a0003c0006t0074g0100 a0003c0006t0077g0099 others(1): Show a0002c0025t0079g0094 a0003c0006t0074g0100 a0003c0006t0077g0099 a0004c0007t0001g0070	4	191	0.0209	287	c.434 others(304): Show c.4345+776_4345+777insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGGCGG AATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAATA TTTTTTTTT		KIAA1549	ENSG00000122778.10	transcript	ENST00000422774.2	protein_coding	12/19						chr7	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(280): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGA GCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0031 a0001c0001t0061g0031	1	76	0.0132	287	c.135 others(306): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTC GCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC TCCCGGGTTCA		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF2_chr22_50497949_50512702	50504186	C C	CCCCCCCC others(280): Show CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0017 a0001c0016t0001g0017	1	410	0.0024	287	c.171 others(304): Show c.1718+153_1718+154insTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGG GGGGGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
MALRD1_chr10_19043801_19739478	19238498	A A	ATTATATA others(280): Show ATTATATATTATATATATTATACATTATATATAATGTATATTATATATTA TATATTATACATTATATATAATGTATAATATATATTATATATAATATACA TTATATATAATGTATAATATATATTATATATTATACATTATATATAATGT ATAATATATATTATATATTATACATTATATATAATGTATAATATATATTA TATATAATATACATTATATATAATGTATAATATATATTATATAATATACA TAATGTATATTATATATAATATACATAATGTATATTAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0023 a0023	a0023c0095 a0023c0095	a0023c0095t0001 a0023c0095t0001	a0023c0095t0001g0040 a0023c0095t0001g0040	1	112	0.0089	287	c.299 others(308): Show c.2992-19186_2992-19185insTTATATATTATATATATTATACAT TATATATAATGTATATTATATATTATATATTATACATTATATATAATGTA TAATATATATTATATATAATATACATTATATATAATGTATAATATATATT ATATATTATACATTATATATAATGTATAATATATATTATATATTATACAT TATATATAATGTATAATATATATTATATATAATATACATTATATATAATG TATAATATATATTATATAATATACATAATGTATATTATATATAATATACA TAATGTATATTAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39						chr10	TogoVar
MARCHF1_chr4_163519718_164389019	163894631	T T	TATATATA others(280): Show TATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATA TATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCA TGTGATGCATATATATATATGCATGTGATGCATATATATATGCATGTGAT GCATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	101	0.0099	287	c.-38 others(306): Show c.-38-40463_-38-40462insGCATCACATGCATATATATATATGCA TCACATGCATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATGCATCACATGCATATATATATGCATCACATGCATATATAT ATATGCATCACATGCATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATATGCATCACATGCATATATATATGCATCACA TGCATATATATATATGCATCACATGCATATATATATATGCATCACATGCA TATATATATAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MBNL2_chr13_97217333_97399120	97329640	C C	CACACACA others(280): Show CACACACAATACACATACAACATGCACACACACCCCATACACATACACAA CACACATACCATATACATAACACACACATACACATATAGCACACACAAAC ACAAACACACACAACAGAAAATACACAGCACACACACAACACAAACACAC AACAGTCAATACACACACACAATATACACACACAATACACATACAACATA CACACCTACCCCATGCAGGCTTACAACACACATACCATATACATAACACA CACATACACATACAGCACACATAACACAAACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02559.hp2 others(9): Show HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02970.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0183 others(9): Show a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0183 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0002g0193 a0001c0001t0004g0173 a0001c0001t0007g0114 a0001c0001t0008g0005	12	13	0.9231	287	c.175 others(304): Show c.175-4622_175-4621insTACAACATGCACACACACCCCATACACA TACACAACACACATACCATATACATAACACACACATACACATATAGCACA CACAAACACAAACACACACAACAGAAAATACACAGCACACACACAACACA AACACACAACAGTCAATACACACACACAATATACACACACAATACACATA CAACATACACACCTACCCCATGCAGGCTTACAACACACATACCATATACA TAACACACACATACACATACAGCACACATAACACAAACACACACAACACA CAATACACA		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113011630	T T	TGGACGGT others(280): Show TGGACGGTGGACAGGCGGTGTGGACGGTGGACACCGTGATGCGGACGGTG GACAGGCGGTGTGGACGGTGGACACCGTGATGCGGACGGTGGACAGGCGG TGTGGACGGTGGACACCGTGATGCGGACGGTGGACAGGCGGTGTGGACGG TGGACACCGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACCG TGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACCGTGATGCGGA CGGTGGACAGGCGGTGTGGACGGTGGACACCGTGATGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp1 others(2): Show HG01257.hp1 HG01258.hp1 HG01361.hp1 NA18946.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0094 a0001c0003t0001g0086 a0001c0005t0001g0079 others(2): Show a0001c0001t0001g0094 a0001c0003t0001g0086 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081	5	104	0.0481	287	c.80- others(302): Show c.80-3118_80-3117insGGTGTGGACGGTGGACACCGTGATGCGGAC GGTGGACAGGCGGTGTGGACGGTGGACACCGTGATGCGGACGGTGGACAG GCGGTGTGGACGGTGGACACCGTGATGCGGACGGTGGACAGGCGGTGTGG ACGGTGGACACCGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGAC ACCGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACCGTGATG CGGACGGTGGACAGGCGGTGTGGACGGTGGACACCGTGATGCGGACGGTG GACAGGC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCTP2_chr15_94226561_94488952	94332683	A A	AGAAATTT others(280): Show AGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCAGATTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	269	0.0037	287	c.638 others(304): Show c.638-6603_638-6602insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGATTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGAAA		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
METRNL_chr17_83074609_83100122	83090298	A A	ACACACAC others(280): Show ACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAACCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAG GGTGGGAGCCACACACACACACCCCCCCCCACACACACCCCGCCCCACAC ACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCC CGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCC CACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0251 a0001c0002t0003g0251	1	255	0.0039	287	c.557 others(304): Show c.557-2862_557-2861insACCCCCCACCCCCCGCCCCAGGGTGGGA ACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCC ACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCCCCACACAC ACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCC ACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACACA CACACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGA GCCACACAC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237545053	G G	GTGAGTGG others(280): Show GTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACA GTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGT GTGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp1 HG02257.hp2 NA18906.hp1	a0028 a0034 a0028 a0034	a0028c0041 a0034c0040 a0028c0041 a0034c0040	a0028c0041t0002 a0034c0040t0001 a0028c0041t0002 a0034c0040t0001	a0028c0041t0002g0265 a0034c0040t0001g0266 a0028c0041t0002g0265 a0034c0040t0001g0266	2	191	0.0105	287	c.154 others(306): Show c.1540-1553_1540-1552insTGAGTGGGGGGACAGTGGTGAGTGGG CACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGCACGGTGGTG AGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACA GTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTGGGGG GACAGTGGTGA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MSLN_chr16_755734_773862	767778	G G	GGTCGCGT others(280): Show GGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGCGTGGGGGGGTGTG GAGGGGGGCGCGTGGGGGGTGCGTGGGGGGGCACGTGGAGGGGGGGCGTG TGGGGGGGTGCGTGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGAGGGGCC CGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGTGTGGAGGGGGGGGCGAGT GGAGGAGCCCCGGTGGAGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGG GGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAGC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0258 a0004c0016t0001g0258	1	380	0.0026	287	c.159 others(304): Show c.1596+309_1596+310insTCGCGTGGAGGAGGGGCGCGTGGAGGGG GGCGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGTGCGTGGGGGG GCACGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGGGGTGCGTGGAGGAG GGGCGTGTGGAGGAGGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAGGGGC GTGTGGAGGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGGCGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAG GGGCGAGCG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195784541	T T	TGGATACT others(280): Show TGGATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTG GATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGA TGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAG CTGAGGAAAGGCCGGTGACAGGAAGATGGGTGGCGTGACCTGTGGATGCT GAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGCGTCGGTGACAGGAAGAGGGTGGTGTGACCTGA	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0113 a0113	a0113c0080 a0113c0080	a0113c0080t0001 a0113c0080t0001	a0113c0080t0001g0103 a0113c0080t0001g0103	1	140	0.0071	287	c.703 others(296): Show c.7038_7039insTCAGGTCACACCACCCTCTTCCTGTCACCGACGCTT CCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCC TCAGCATCCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCCTC AGCTTCCACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGG CATCCACAGGTCATGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCA TCCACAGGTGACACCACCCCTCTTCCTGGCACCGACACTTCCTCAGTATC C	p.Thr others(6): Show p.Thr2347fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7150/16756	7038/16239	2346/5412			chr3	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGATGGT others(280): Show GTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAAT GATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	4	0.2500	287	c.160 others(304): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGC CACCACCACCACCACCACCATCACCACCATCACCACCATCACCACCATCA CCACCATCA		MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12						chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGC others(280): Show GTGGTGGCGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAAT GATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0273 a0002c0002t0068g0273	1	4	0.2500	287	c.160 others(304): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCAC CACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCGCCACCA		MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12						chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(280): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAAT GATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0296	1	4	0.2500	287	c.160 others(304): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGC CACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCACCATCA CCACCACCA		MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12						chr6	TogoVar
MYO16_chr13_108624611_109213005	109023374	A A	ATATATTA others(280): Show ATATATTATACAGATATAAATATATATTTATATATTATACAGATATAAAT ATATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATATTTATATATTATACAGATATAAATATATATTTATATA TTATACAGATATAAATATATATTTATATATTATACAGATATAAATATATA TTTATATATTATACAGATATAAATATATATTTATATATTATACAGATATA AATATATATTTATATATTATACAGATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp1 HG02922.hp2 NA19240.hp1	a0002 a0024 a0002 a0024	a0002c0001 a0024c0036 a0002c0001 a0024c0036	a0002c0001t0001 a0024c0036t0001 a0002c0001t0001 a0024c0036t0001	a0002c0001t0001g0139 a0024c0036t0001g0140 a0002c0001t0001g0139 a0024c0036t0001g0140	2	117	0.0171	287	c.279 others(306): Show c.2796+3605_2796+3606insTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTTATATATTATACAGATATAAATATATATTTATATATTA TACAGATATAAATATATATTATATTATACAGATATAAATATATATTTATA TATTATACAGATATAAATATATATTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATAT		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(280): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAG GGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGAGGA GGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAGGGAG GAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGAGGAGGG AGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0145 a0001c0004t0018g0145	1	7	0.1429	287	c.887 others(304): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTTC CTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCTCCCTCCTCCCTCCCTCTT CCCTCCCTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NCAPH2_chr22_50503224_50529780	50504186	C C	CCCCCCCC others(280): Show CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	378	0.0026	287	c.-41 others(298): Show c.-4152_-4151insCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACC CCGGGCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACA		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4037		chr22	TogoVar
NDST4_chr4_114822763_115118620	114976961	T T	TGGGAGGC others(280): Show TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GTGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0095	1	183	0.0055	287	c.106 others(304): Show c.1066+225_1066+226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG AGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCACCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCC		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	3/13						chr4	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(280): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0338 a0001c0001t0013g0338	1	253	0.0040	287	c.373 others(304): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTCT AGTTCTCTT		NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NEU4_chr2_241804193_241822413	241806841	C C	CCCTCCCC others(280): Show CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTC CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0103 a0002c0003t0002g0103	1	314	0.0032	287	c.-24 others(298): Show c.-2437_-2436insCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2351		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532183	A A	ACCCCTCG others(280): Show ACCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCCGGCAGACCCT CCTGTCTCCGCCTGCAGTCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCC TCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCC CCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0036 a0002c0003t0007g0036	1	302	0.0033	287	c.46 others(298): Show c.4606_*4607insCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCC CCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCCGGCA GACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTG TCTCCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CCG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2861		chr18	TogoVar

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