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
ZNF365_chr10_62369369_62407450	62370767	C C	CATATATA others(427): Show CATATATAACATATATATCATATATATACCATATATATAATATATATCAT ATAAATCATATATATCATATACATCATATACATCATATACATCATATATG ATATATACATCATATATCACACATATGATATATACATCATATATCACACA TATGATATACATCATATATCACACATATGATATACATCATATATCACACA TATGATATACATCATATATCACACATATGATATACATCATATATCACACA TATGATATACATCATATATCACACATATGATATATATCATATATCACACA TATGATATATATCATATATCACACATATGATATATATCATATATCACACA TATGATATATATCATACATATCACATATATCATATATATCATACATATCA CATATATCATATATATCATACATATCACATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0078 a0001c0001t0020g0078	1	350	0.0029	434	c.-37 others(445): Show c.-3705_-3704insATATATAACATATATATCATATATATACCATATA TATAATATATATCATATAAATCATATATATCATATACATCATATACATCA TATACATCATATATGATATATACATCATATATCACACATATGATATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAT ATCATATATCACACATATGATATATATCATATATCACACATATGATATAT ATCATATATCACACATATGATATATATCATACATATCACATATATCATAT ATATCATACATATCACATATATCATATATATCATACATATCACATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3601		chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(428): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGAATGGAT AAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(37): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01515.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02698.hp1 HG03239.hp1 HG03688.hp1 HG03927.hp1 NA18949.hp1 NA18962.hp1 NA18968.hp2 NA18986.hp2 NA18993.hp2 NA19002.hp2 NA19011.hp1 NA19060.hp1 NA19066.hp1 NA20129.hp2 NA20752.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0009 a0020 a0025	a0002c0013 a0002c0051 a0003c0005 others(9): Show a0002c0013 a0002c0051 a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0004c0010 a0009c0029 a0009c0042 a0009c0045 a0020c0027 a0025c0076	a0002c0013t0001 a0002c0051t0001 a0003c0005t0001 others(11): Show a0002c0013t0001 a0002c0051t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0004c0010t0001 a0009c0029t0001 a0009c0042t0001 a0009c0045t0001 a0020c0027t0007 a0025c0076t0001	a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 others(37): Show a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0051t0001g0353 a0003c0005t0001g0083 a0003c0005t0001g0134 a0003c0005t0001g0157 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0105 a0003c0007t0001g0110 a0003c0007t0001g0111 a0003c0007t0001g0211 a0003c0007t0001g0221 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0004c0010t0001g0045 a0009c0029t0001g0158 a0009c0029t0001g0230 a0009c0042t0001g0099 a0009c0045t0001g0107 a0020c0027t0007g0293 a0020c0027t0007g0294 a0025c0076t0001g0047	40	357	0.1120	435	c.278 others(452): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACCCATTTATCCATTCCACCCACCCATTTATCCATCCCACCCACCCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCC ATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCC TCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAT CCATCCC		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(428): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGAATGGAT AAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0098 a0003c0007t0001g0098	1	357	0.0028	435	c.278 others(452): Show c.2787+965_2787+966insTTATCCATCCCACCCACCCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACCCATTTATCCATTCCACCCACCCATTTATCCATCCCACCCACCCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCC ATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCC TCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAT CCATCCC		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(428): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGATGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGAATGGAT AAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0314 a0003c0005t0001g0314	1	357	0.0028	435	c.278 others(452): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACCCATTTATCCATTCCACCCACCCATTTATCCATCCCACCCACCCATTT ATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCC ATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCC TCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAT CCATCCC		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(428): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGCCCACCCCCCACACGTCACCTCAGTCCACCC CCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCT CAGTCCACCCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	337	0.0030	435	c.61+ others(450): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGGCTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGA CTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACT GAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
AGMO_chr7_15195317_15567015	15406286	G G	GTGTGTAT others(428): Show GTGTGTATATATATGGAATATACATATATATGTGTATATATATGGAATAT ACATATATATGTGTATATATATGGAATATACATATATATGTGTATATATA TGGAATATACATATATATGTGTATATATATGGAATATACATATATATGTG TATATATATGGAATATACATATATATGTGTATATATATGGAATATACATA TATATGTGTATATATATGGAATATACATATATATGTGTATATATATGGAA TATACATATATATGTGTATATATATGGAATATACATATATATGTGTATAT ATATGGAATATACATATATATGTGTATATATATGGAATATACATATATAT GTGTATATATATGGAATATACATATATATGTGTATATATATGGAATATAC ATATATATGTGTATATATATGGAATATACATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03654.hp2 HG01257.hp1 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0165 a0001c0003t0001g0146 a0001c0003t0001g0165	2	236	0.0085	435	c.610 others(454): Show c.610-12108_610-12107insTATATATGTATATTCCATATATATAC ACATATATATGTATATTCCATATATATACACATATATATGTATATTCCAT ATATATACACATATATATGTATATTCCATATATATACACATATATATGTA TATTCCATATATATACACATATATATGTATATTCCATATATATACACATA TATATGTATATTCCATATATATACACATATATATGTATATTCCATATATA TACACATATATATGTATATTCCATATATATACACATATATATGTATATTC CATATATATACACATATATATGTATATTCCATATATATACACATATATAT GTATATTCCATATATATACACATATATATGTATATTCCATATATATACAC ATATATATGTATATTCCATATATATACACATATATATGTATATTCCATAT ATATACACA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12						chr7	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(428): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18952.hp1 HG00639.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0099 a0001c0001t0002g0027 a0001c0001t0002g0099	2	268	0.0075	435	c.62+ others(448): Show c.62+761_62+762insTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(428): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAGGGA AGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAACAA GGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAGGGA AGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAGGGG GAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAAG GGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGGA AGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGGGAA GAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	426	0.0024	435	c.-49 others(446): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCTTCCCTCCCC TCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTTT C		AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding					4892		chr9	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(428): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAAGTGAGGGGAGTGGA AGGGTGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAG GGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGG AGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGGG TGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGG GGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGG GAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGG AGGGGGAGGGGAAGGCGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02717.hp1 others(1): Show HG01243.hp2 HG02630.hp2 HG02717.hp1 HG03225.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0009 a0003c0007t0002g0276 a0003c0007t0002g0277 a0003c0007t0002g0009 a0003c0007t0002g0276 a0003c0007t0002g0277	4	350	0.0114	435	c.248 others(450): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCGCCTTCCCCT CCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTT CCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCAC CCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCC CTCCCACCCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCT CCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCC CTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCC CACCCTTCCACTCCCCTCACTTCCTCCTCCCCCTCCCCTCACCTCCCCCT CCCCT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(428): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGGTGGGAGGGGAGGGGGAGGGTGG GAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGG TGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGG GGAAGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	350	0.0029	435	c.248 others(450): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTT CTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCT CCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCCTCCCCTCACCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCT CACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCC ACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCC CACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCT CCCCT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729624	A A	AGGAGGAG others(428): Show AGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGG GAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAG GGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGAGAGGGGA GTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGTCGACGAG TGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGGGAGGGGGGGT GGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGG GAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGGAGGGGAAGGCGAGGG GAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGG GGAGGCGAGGGGAGGGGGAGGTGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	350	0.0029	435	c.248 others(450): Show c.2483+54_2483+55insCTCCCCCTCCCCTCACCTCCCCCTCCCCTC GCCTCCCCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTC GCCTTCCCCTCGCCTTCCCCTCCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCC CCTCCCACCCCCCCTCCCCTCACCTCCCCCTCCCCTCACCTTCCCCTCCC CTCCCACTCGTCGACTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCACCC ATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCT CCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTC CCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCT CCTCC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128950	C C	CGCTCCGA others(428): Show CGCTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0201 a0001c0003t0002g0201	1	406	0.0025	435	c.806 others(450): Show c.806+139_806+140insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGG CGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCG GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGGGCGGGCCAGCTCCACGGGGTGCAGTGTC GGAGC		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(428): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCC CAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGC CAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAGAGGG CATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCT GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03710.hp1 HG03017.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	442	0.0045	435	c.55 others(446): Show c.5514_*5515insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAAG TCTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACT GCAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTAT TTTTAGTAGAGAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTC CTGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAG G		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(428): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCACC CAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGC CAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGG CATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCT GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	435	c.55 others(446): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAG TCTCTCTCTGTCACCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACT GCAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTAT TTTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTC CTGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAG G		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(428): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCG GTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGG GGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	360	0.0028	435	c.92- others(448): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGG TCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG GGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGA GGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTC TCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGG TGG		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C4orf19_chr4_37448925_37598510	37585260	G G	GTGTTGAG others(428): Show GTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGAGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGA GAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0108 a0001c0001t0050g0108	1	354	0.0028	435	c.-22 others(452): Show c.-22-3585_-22-3584insGTTGAGGGAGAGGAGGGGAGATCAGAGG TGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGG GAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTG AGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTA TTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGAT		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585322	T T	TGAGGGAA others(428): Show TGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGG GAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGG TATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAG AGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGAAGGA GAGGGGAGAGGAGAGGTGTTGAGGAAGGAGAGGGGTGAGGAGAGGTGTTG AGGAAGGAGAGGGGTGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAA AGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0044 a0002c0004t0044	a0002c0004t0044g0281 a0002c0004t0044g0281	1	354	0.0028	435	c.-22 others(452): Show c.-22-3518_-22-3517insAGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGAT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGA GGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGG AGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGA GGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGAAGGAGAGGGGAGAGGAGAGGTGTTGAGGAAGGAGAGGGG TGAGGAGAGGTGTTGAGGAAGGAGAGGGGTGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATAT CGAGGGA		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585347	G G	GTGTTGAG others(428): Show GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATT GAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGA GAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGG GGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGT GTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGA GGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	354	0.0028	435	c.-22 others(452): Show c.-22-3488_-22-3487insAGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAG GAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGA GGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTT GAGGGAG		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585371	G G	GAAAGGTG others(428): Show GAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTT GAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGG GGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	354	0.0028	435	c.-22 others(452): Show c.-22-3474_-22-3473insAAGGTGTTGAGGGAGGGGAGGGGAGAGG AGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGG TGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAG AGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGG GAGATCA		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585436	A A	ATTGAGGG others(428): Show ATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGA GGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGG AGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGA GGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTAT TGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0087 a0001c0001t0001g0088	2	354	0.0057	435	c.-22 others(452): Show c.-22-3385_-22-3384insAATGTTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGG GAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTG TTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAG GGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAG ATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAGA		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585438	T T	TGAGGGAG others(428): Show TGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGG GAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTG AGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAA AGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0006 a0001c0001t0032g0006	1	354	0.0028	435	c.-22 others(452): Show c.-22-3384_-22-3383insATGTTGAGGGAGGGGAGGGGAGAGGAGA GATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGG AGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAG GGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGG GAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAG AGGAGAG		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585521	A A	ATGTTGAG others(428): Show ATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGA GAGATGTTGAGGGAGGGGAGGGTAGAGGAGAGGTGTTGAGGGAAGGGAGG GGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGG AGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	354	0.0028	435	c.-22 others(452): Show c.-22-3300_-22-3299insAAGGTGTTGAGGGAGGGGAGGGGAGAGG AGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGA TGTTGAGGGAGGGGAGGGTAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAG AGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG GAGAGGA		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585525	T T	TGAGGGAG others(428): Show TGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGG AGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGTGGAGGAGAGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGG GAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGG TGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAG ATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTG AGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAA AGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGACATC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 HG02145.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0329 a0001c0001t0005g0164 a0001c0001t0005g0329	2	354	0.0057	435	c.-22 others(452): Show c.-22-3297_-22-3296insATGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGT GGAGGAGAGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAG GGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATC AGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGG GAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGACATCGAGGGAGGGGAGGGGAG AGGAGAG		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
CAPN11_chr6_44153820_44189401	44182080	A A	ATACACAC others(428): Show ATACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACACTCACATAC AGACACAACCACACCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACTCACATACAGACACAACCACACCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0422 a0003c0003t0002g0422	1	460	0.0022	435	c.193 others(452): Show c.1938+760_1938+761insTACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACTCACATACAGACACA ACCACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22						chr6	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(428): Show ATGATGGTGATGATGATGATGGTGATGGTGATGATGATGGTGATAGTGAT GATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGA TGGTGATGGTAATGGTGATGATGATGATGATGGTGATGGTAATGGTGATG GTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGT GATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGA TGATGGTGATGGTGATGATGATGATGGTGATGGTGATGGTGATGATGATG ATGGTGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGT GATGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTGATGG TGATGATGATTGTGATGATGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0086 a0086	a0086c0057 a0086c0057	a0086c0057t0027 a0086c0057t0027	a0086c0057t0027g0176 a0086c0057t0027g0176	1	196	0.0051	435	c.-5- others(452): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGGTAATGGT GATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGA TGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATG GTGATGATGGTGATGGTGATGATGATGATGGTGATGGTGATGGTGATGAT GATGATGGTGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGA TGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTG ATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGGTGATGGTGAT GATGATG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71420476	A A	ATGATGAT others(428): Show ATGATGATGGTGATGGTGATGATGATGGTGATAGTGATGATGATGGTGAT AGTGATGATGACGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAA TGGTGATGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGATG ATGATGGTGATGATGATGGTGATGGTGATGATGATGATGATGGTGATGGT AATGGTGATGATGATGATGATGGTGATGATGGTGATGGTGATGATGATGA TGGTGATGGTGATGGTGATGGTGATGATGATGATGGTGATGATGATGGTG ATGGTGATGATGATGATGGTGATGGTAATGGTGATAGTGATGATGATGAT GGTGATGATGATGGTGATGGTGATGGTAATGGTGATGGTGATGATGATTG TGATGATGATGGTGATGGTGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0065 a0065	a0065c0099 a0065c0099	a0065c0099t0001 a0065c0099t0001	a0065c0099t0001g0138 a0065c0099t0001g0138	1	196	0.0051	435	c.-5- others(452): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGACGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGGTAATGGT GATGGTGATGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGA TGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGATGGTG ATGGTGATGATGATGATGGTGATGGTGATGGTGATGGTGATGATGATGAT GGTGATGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGA TAGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTG ATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGGTGATGGTGAT GGTGATG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69					INFO_REALIGN_3_PRIME	chr10	TogoVar
CEP72_chr5_607340_658553	650501	T T	TGACTGTG others(428): Show TGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAG GTGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACT GTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTG ACTGTGAGGTGTGCCTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGG GGTGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCG TGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGTGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	91	0.0110	435	c.177 others(454): Show c.1779-2464_1779-2463insTGTGGACTGTGAGGTGTGACTGTGAG GTGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACT GTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTG ACTGTGAGGTGTGCCTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGG GGTGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCG TGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGTGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(428): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02738.hp2 HG01255.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	402	0.0050	435	c.80- others(450): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATA AAATA		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(428): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01361.hp1 others(5): Show HG00423.hp1 HG00738.hp2 HG01361.hp1 HG01516.hp1 NA18941.hp2 NA18949.hp1 NA18955.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0208 a0001c0001t0001g0209	8	402	0.0199	435	c.80- others(450): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATA AAATA		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CNOT3_chr19_54132762_54160681	54133834	T T	TCCCTCTC others(428): Show TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCCTC TCTCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA19057.hp2 HG00423.hp1 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0110 a0001c0003t0001g0092 a0001c0003t0001g0110	2	223	0.0090	435	c.-42 others(446): Show c.-4210_-4209insCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCT CTCCACCTTCCCCTCTCTCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT C		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3927		chr19	TogoVar
CROCC2_chr2_240901336_240998311	240924793	G G	GCCCCCAC others(428): Show GCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAATCC GGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTAA CCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTG ACCCGGCCCCCACACTAACCCGGCCCCTCACACTGACCCGGCCCCCCACA CTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCTCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCC CACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGC CCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCAG CCCCCACACTAACCCGGCCCCTCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0203 a0010c0010t0001g0203	1	350	0.0029	435	c.489 others(450): Show c.489-919_489-918insCCCGGCCCCCACACTAACCCGGCCCCCACA CTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCC CACACTGACCCGGCCCCCACACTAACCCGGCCCCTCACACTGACCCGGCC CCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGG CCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAATC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACT GACCCAGCCCCCACACTAACCCGGCCCCTCACACTGACCCGGCCCCCCAC ACTAA		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACACCCCT others(428): Show ACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTC CTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCT CCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTC CTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCT TCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCC ACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATC CCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCT TCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTC CATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	276	0.0036	435	c.52 others(446): Show c.5219_*5220insCACCCCTCCTCCTCCTCCACACCCCTCCTCTTCC TCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTC CTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCC TCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTC CTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCAC CCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCG TTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCT CCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCC ACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGT C		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					2015		chr15	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(428): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	396	0.0025	435	c.513 others(450): Show c.513-927_513-926insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTA		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19						chr13	TogoVar
DENND1A_chr9_123374658_123935126	123405649	G G	GAAGCAGG others(428): Show GAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACA AGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTGCCCACCCTTTGA GTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTG CCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACA CTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGA AGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAG ACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGT TTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTGCC CACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01358.hp1 HG02040.hp2 HG00597.hp1 HG01358.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0002t0012 a0001c0001t0003 a0001c0002t0003 a0001c0002t0012	a0001c0001t0003g0069 a0001c0002t0003g0003 a0001c0002t0012g0016 a0001c0001t0003g0069 a0001c0002t0003g0003 a0001c0002t0012g0016	3	162	0.0185	435	c.154 others(454): Show c.1543-2160_1543-2159insTCCCTTCCCTGTCTTGTCCTGGAAAC TCAAAGGGTGGGCAGGAGGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCT TGTCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGAGTGTGTGCCTGCTTC CCTTCCCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGAGTG TGTGCCTGCTTCCCTTCCCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCA GGAAGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCTTGTCCTGGAAACTC AAAGGGTGGGCAGGAGGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCTTG TCCTGGAAACTCAAAGGGTGGGCAGGAGGTGGAGTGTGTGCCTGCTTCCC TTCCCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGAGTGTG TGCCTGCTT		DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23						chr9	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACACA others(428): Show CATACACACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATACATGTATATATACA CATATATACATACATGTATATATACACATATATACATACATGTATATATA CACATATATACATACATGTATATATACACATATATACATACATGTATATA TACACATATATACATACATGTATATATACACATATATACATACATGTATA TATACACATATATACATACATGTATATATACACATATATACATATATGTA TATATACACATATATACATACATGTATATATACACATATATACATATATG TATATATACACATATATACATATATGTATATATACACATATATACATATA TGTATATATACACATATATACATATACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0025 a0001c0004t0002g0025	1	80	0.0125	435	c.-15 others(456): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATGTATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATGTATGTA TATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATA CATGTGTGTAT		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12						chr18	TogoVar
DOCK8_chr9_209865_470255	400809	T T	TCACCACC others(428): Show TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCATCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCCCCACTACCAA CAGCTCCTTCACCATCACCACAACATCCACCACCACCACCACCTCCACCA CCACCACCTCCTCCACCATCACCACCAGCTCCACCACCACCACCTCCTCC ACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCAC CTCCCCCACTACCAACAGCTCCTTCACCATCAACACAATATCCACCACCA CCATCACCACCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACC ACCACCACCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCAC CATCACCATCACCTCCACCTCCACCACCACCTCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp1 HG00323.hp1 HG01261.hp1	a0004 a0008 a0004 a0008	a0004c0019 a0008c0022 a0004c0019 a0008c0022	a0004c0019t0001 a0008c0022t0001 a0004c0019t0001 a0008c0022t0001	a0004c0019t0001g0092 a0008c0022t0001g0201 a0004c0019t0001g0092 a0008c0022t0001g0201	2	256	0.0078	435	c.323 others(454): Show c.3234+1567_3234+1568insCCACCAGCTCCACCATCACCACCATC TTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCCCCAC TACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCACCACCT CCACCACCACCACCTCCTCCACCATCACCACCAGCTCCACCACCACCACC TCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCAC CACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAACACAATATCCA CCACCACCATCACCACCACCTCCACCACCACCTCCTCCACCACCACCACC TCCACCACCACCACCACCACCACCACCACCACCTCCACCATCACCACCTC CTTCACCATCACCATCACCTCCACCTCCACCACCACCTCCACCACCACCA CCTCCACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400963	C C	CACCACCT others(428): Show CACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCA CCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACC TCCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACC TCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCT CCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGC AATATTATCACCTTTCCTATCACCTCCAATATCACT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0133 a0003c0133	a0003c0133t0001 a0003c0133t0001	a0003c0133t0001g0142 a0003c0133t0001g0142	1	256	0.0039	435	c.323 others(454): Show c.3234+1707_3234+1708insACCTCCTCCACCACCACCACCTCCAC CACCACCACCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCATCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCC ACCATCACCACCACCTCCACCATCACCACCTCCACCATCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACC TCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCA TCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT ATCACTACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(428): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCTCCT TCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACC ACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCTCCACCAT CATCACCACCTCCTTCACCACCACCACCATCTTCACCATCACCACCACCT CCACCATCACCACCACCTCCACTATCACCACCACCTCCATCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACTTCCACCACCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCGTCACCA CCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACC TCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0001 a0002c0113t0001	a0002c0113t0001g0235 a0002c0113t0001g0235	1	256	0.0039	435	c.323 others(454): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCAC CACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCA CCATCACCACCACCTCCACCATCATCACCACCTCCTTCACCACCACCACC ATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACTATCAC CACCACCTCCATCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCACCACCACTTCCACCACCACCACCTCCTTCACCATCACCATCACCACC ACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCAT CACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCA CCTCCAATA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(428): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGTTGGATGG ATGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGATG GATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGGA TGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGGA GATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGG TGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATG GATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGGA TGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGATG GATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	374	0.0027	435	c.772 others(450): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCCCACC CATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCA TCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATCCATC CATCATCCATCCAACCATCCATCTCCCCACCCATCCATCCTTCTCTCTAT CCATC		EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7						chr20	TogoVar
EHMT1_chr9_137614005_137841127	137716343	A A	ATGGTGGG others(428): Show ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	170	0.0059	435	c.86- others(448): Show c.86-260_86-259insGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGTGGGGGAGGAAGTTGTG GTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99927963	G G	GTGGTGGT others(428): Show GTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGAGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0121 a0002c0001t0003g0121	1	288	0.0035	435	c.190 others(454): Show c.1909+7094_1909+7095insGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FGFR4_chr5_177081915_177103144	177097088	C C	CTCCTCCT others(428): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTC CTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCT CCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCCTCCT CCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC TCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0196 a0003c0007t0001g0196	1	372	0.0027	435	c.215 others(452): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCT TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTC CTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCT CTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT TCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTC CTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCT CCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCC TCCTCCT		FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(428): Show CCTGGCCCCCGCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGCCCCCGCATCTTCTCCTGGCCCCGCATCTTCTCCTCC TGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCCC ACATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTT CTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCT GCCCCCACATCTTCTCCTCCTGGCACCGCATCTTCTCCTCCTGGTCCCGC ATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCGTG TTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03927.hp2 HG04115.hp2 HG03927.hp2 HG04115.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0014 a0016c0021t0014	a0016c0021t0014g0056 a0016c0021t0014g0057 a0016c0021t0014g0056 a0016c0021t0014g0057	2	396	0.0051	435	c.239 others(444): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGTGCCAGGAGGAGAAGATGTGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGT GGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCA GGAGGAGAAGATGCGGGGCCAGGAGAAGATGCGGGGGCAGGAGGAGAAGA TGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGG GGCAGGAGGAGAAGATGCGGGGGCCAGGAGGAGAAGATGCGGGGGCCAG	p.Ala others(448): Show p.Ala799_Gly800insAlaGluAlaThrGlyThrGluGlyGluAlaVa lGlyThrArgGluAspAlaGlyAlaGlyGluAspMetGlyAlaGlyGlyG luAspAlaGlyProGlyGlyGluAspAlaValProGlyGlyGluAspVal GlyAlaGlyGlyGluAspValGlyAlaGlyGlyGluAspValGlyAlaGl yGlyGluAspValGlyProGlyGlyGluAspAlaGlyGlyArgArgArgA rgCysGlyAlaArgArgArgArgCysGlyGlyGlnGluGluLysMetArg GlyGlnGluGluLysMetArgGlyGlnGluLysMetArgGlyGlnGluGl uLysMetArgGlyGlnGluGluLysMetArgGlyAlaGlyGlyGluAspA laGlyGlyArgArgArgArgCysGlyGlyGlnGluGluLysMetArgGly Pro	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(428): Show CCTGGCCCCCGCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGCCCCCGCATCTTCTCCTGGCCCCGCATCTTCTCCTCC TGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCCC ACATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTT CTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCT GCCCCCACATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCCGC ATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCGTG TTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp1 HG02818.hp2 HG02970.hp1 others(5): Show HG02615.hp1 HG02818.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG06807.hp2	a0003 a0033 a0003 a0033	a0003c0011 a0003c0039 a0003c0041 others(1): Show a0003c0011 a0003c0039 a0003c0041 a0033c0040	a0003c0011t0008 a0003c0039t0007 a0003c0041t0007 others(1): Show a0003c0011t0008 a0003c0039t0007 a0003c0041t0007 a0033c0040t0022	a0003c0011t0008g0018 a0003c0011t0008g0138 a0003c0039t0007g0124 others(2): Show a0003c0011t0008g0018 a0003c0011t0008g0138 a0003c0039t0007g0124 a0003c0041t0007g0126 a0033c0040t0022g0125	8	396	0.0202	435	c.239 others(444): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGTGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGT GGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCA GGAGGAGAAGATGCGGGGCCAGGAGAAGATGCGGGGGCAGGAGGAGAAGA TGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGG GGCAGGAGGAGAAGATGCGGGGGCCAGGAGGAGAAGATGCGGGGGCCAG	p.Ala others(448): Show p.Ala799_Gly800insAlaGluAlaThrGlyThrGluGlyGluAlaVa lGlyThrArgGluAspAlaGlyAlaGlyGluAspMetGlyAlaGlyGlyG luAspAlaGlyProGlyGlyGluAspAlaGlyProGlyGlyGluAspVal GlyAlaGlyGlyGluAspValGlyAlaGlyGlyGluAspValGlyAlaGl yGlyGluAspValGlyProGlyGlyGluAspAlaGlyGlyArgArgArgA rgCysGlyAlaArgArgArgArgCysGlyGlyGlnGluGluLysMetArg GlyGlnGluGluLysMetArgGlyGlnGluLysMetArgGlyGlnGluGl uLysMetArgGlyGlnGluGluLysMetArgGlyAlaGlyGlyGluAspA laGlyGlyArgArgArgArgCysGlyGlyGlnGluGluLysMetArgGly Pro	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPR173_chrX_53043789_53085615	53074278	A A	ATATAAAT others(428): Show ATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATAC ATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTAT TCACATATAAATATATATAAATATACATGTATATTTATTCATATATAAAA ATATATAAATATACATGTATATTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAATATACATGTATATTATAATTATATAAATA TATATTAATATACATTTACATATAATATATATAATAAATATACATATATA TAATATATATAAATGTATATTTATTTTATTATTTATATTTATTTATTAAT AATATATATAAATATATATAAATATATATTTATATT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0195 a0001c0002t0060g0195	1	208	0.0048	435	c.-97 others(452): Show c.-97-2247_-97-2246insTATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCATATATAAAAATATATAAATATACATGTATATTATTCAT ATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATAT ATAAATATACATGTATATTTATTCATATATAAATATATATAATATACATG TATATTATAATTATATAAATATATATTAATATACATTTACATATAATATA TATAATAAATATACATATATATAATATATATAAATGTATATTTATTTTAT TATTTATATTTATTTATTAATAATATATATAAATATATATAAATATATAT TTATATT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GSE1_chr16_85608322_85681200	85653206	C C	CCCCTCCT others(428): Show CCCCTCCTCCCTCCTCCCCCCCCTCCTCCTCCCCCTCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCT CCTCCCCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC TCCTCCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCTCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCCCCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0064 a0004c0007t0064	a0004c0007t0064g0258 a0004c0007t0064g0258	1	290	0.0035	435	c.427 others(452): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCCCCCCCTCCTCC TCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTCCTCCCCCC CTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCCCCCCCCTCCTCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCTCCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCCCCTC CTCCTCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(428): Show CAAAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGCTGGGTACCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAA AAAAAAAAAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCT CGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGC ATGGGCAATATGGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	155	0.0065	435	c.-31 others(446): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCAGCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTT T		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3096		chrX	TogoVar
HES4_chr1_993964_1005097	996728	A A	AGGACCCC others(428): Show AGGACCCCCCGCTGGAGGGGGGACCCCCCGCTGGAGGGGGCACCCCACAT CTGGGGCCACAGGATGCAGGGTGGGGAGGGCAGAAAGGACCCCCCGCTGG AGGGGGCACCTCACGTCTGGGGCCACAGGAGGCAGGGTGGGGAGGACAGA AAGGACCCCCCGCTGGAGGGGGCACCCCACATCTGGGGCCACAGGATGCA GGGTGGGGAGGGCAGAAAGGACCCCCCGCGGGAGGGGGCACCTCACGTCT GGGGCCACAGGATGCAGGGTGGGGAGGACAGAAAGGACCCCCCGCTGGAG GGGGGACCCCCCGCTGGAGGGGGCACCCCACATCTGGGGCCACAGGATGC AGGGTGGGGAGGGCAGAAAGGACCCCCCGCTGGAGGGGGCACCTCACGTC TGGGGCCACAGGAGGCAGGGTGGGGAGGACAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	435	c.23 others(446): Show c.2330_*2331insCTTTCTGTCCTCCCCACCCTGCCTCCTGTGGCCC CAGACGTGAGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGCCCTCCCCACC CTGCATCCTGTGGCCCCAGATGTGGGGTGCCCCCTCCAGCGGGGGGTCCC CCCTCCAGCGGGGGGTCCTTTCTGTCCTCCCCACCCTGCATCCTGTGGCC CCAGACGTGAGGTGCCCCCTCCCGCGGGGGGTCCTTTCTGCCCTCCCCAC CCTGCATCCTGTGGCCCCAGATGTGGGGTGCCCCCTCCAGCGGGGGGTCC TTTCTGTCCTCCCCACCCTGCCTCCTGTGGCCCCAGACGTGAGGTGCCCC CTCCAGCGGGGGGTCCTTTCTGCCCTCCCCACCCTGCATCCTGTGGCCCC AGATGTGGGGTGCCCCCTCCAGCGGGGGGTCCCCCCTCCAGCGGGGGGTC C		HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding					2235		chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544831	T T	TCATCACC others(428): Show TCATCACCACCACTACCACCTCTACCACCACCATCACCACCACCACCACC ATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCTAC CACCACCACCACCACCACCACTACCACCTCTACCACCACCACCACCACCA CCACTACCACCTCTACCACCTCTACCACCACCACCACCATCACCTCTACC ACCACCATCACCACCACCATCACCACCACCTCTACCACCACCATCACCAC CACCACCACCACCACCTCTACCACCACCATCACCTCTACCACCACCATCA CCACCACCACCACCATCACCTCTACCACCACCATCACCTCTACCACCACC ATCACCACCACCACCACCATCACCACCTCTACCACCACTGCTACCATCAC CACCACCACCACTACCACCTGTACCACCACTGCTAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18950.hp2 NA19057.hp1 HG01109.hp2 NA18950.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0073 a0001c0001t0001 a0001c0001t0073	a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0073g0116 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0073g0116	3	134	0.0224	435	c.520 others(456): Show c.5208-19922_5208-19921insGTAGCAGTGGTGGTACAGGTGGTA GTGGTGGTGGTGGTGATGGTAGCAGTGGTGGTAGAGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTAGAGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTAGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGATGGTGGT GGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTAGAGGTGGTAG AGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTG GTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAG TGGTGGTGATG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(428): Show TCTACCACCACCATCACCACCACCACCACCACCACCTCTACCACCACCAT CACTACTACCACCACCACCACCTCTACCACCATCGCTACCATCACCACCA CCACCACTATCACCGCCACCATCGCTACCATCACCACCACCACCACTATC ACCGCCACCACCACCAATACCACTACCACCACCATCACTACCACCACCAC CACCATCACCACCTCTACCATCGCTACCATCACCACCACCACCACTACCA TCATCACCACTACCACCATCACCACCTCTACCACCACCATCACCACCACC ACTATCACCACCTCCACCACCACCATCACCACCACCACCACCACCACCTC TACCACCACCATCACTACTACCACCACCACCACCTCTACCACCATCGCTA CCATCACCACCACCACCACTATCACCGCCACCATCG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0028 a0028	a0028c0036 a0028c0036	a0028c0036t0048 a0028c0036t0048	a0028c0036t0048g0119 a0028c0036t0048g0119	1	134	0.0075	435	c.520 others(456): Show c.5208-20044_5208-20043insCGATGGTGGCGGTGATAGTGGTGG TGGTGGTGATGGTAGCGATGGTGGTAGAGGTGGTGGTGGTGGTAGTAGTG ATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TAGTGGTGATGATGGTAGTGGTGGTGGTGGTGATGGTAGCGATGGTAGAG GTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAGTGGTATTGGT GGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGCGG TGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGTAGAGGTGGTGGTG GTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTAG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar

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