Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRM_chr18_7562316_8411856	7725569	T T	TAAAAACC others(289): Show TAAAAACCCCAGAGCCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 NA19043.hp1 HG03195.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0042 a0001c0003t0001g0040 a0001c0004t0001g0066 a0001c0002t0001g0042 a0001c0003t0001g0040 a0001c0004t0001g0066	3	76	0.0395	296	c.74- others(313): Show c.74-48566_74-48565insCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAACCCCAGAGC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RASA3_chr13_113972783_114137623	114044336	C C	CCCGCCCC others(289): Show CCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGC TCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAG CTCCCCCACCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCT GAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCGCCTCACT CGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGC CTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	65	0.0154	296	c.278 others(313): Show c.278-3243_278-3242insTGGGGGAGCTCAGCGAGTGAGGCGGGGG GGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGG CGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGCTCAGCGAGT GAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCG AGTGAGGCGGGTGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAG CGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCA GCGAGTGAGGCGGGGCGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79554390	C C	CACCTGGC others(289): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	149	0.0067	296	c.-32 others(317): Show c.-320+56435_-320+56436insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(289): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp1 HG03540.hp2 others(3): Show HG02717.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 a0001c0002t0009	a0001c0001t0004g0092 a0001c0001t0004g0105 a0001c0001t0004g0122 others(3): Show a0001c0001t0004g0092 a0001c0001t0004g0105 a0001c0001t0004g0122 a0001c0001t0005g0144 a0001c0001t0026g0106 a0001c0002t0009g0041	6	84	0.0714	296	c.-32 others(317): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(289): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	79	0.0127	296	c.-32 others(317): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555308	T T	TGGTGGTA others(289): Show TGGTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGTGGTGGTA ATGGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGTGACGATA GTCATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAGTGATGGT GATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTGATAATGG CGATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGTGATGGCA GTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	148	0.0068	296	c.-32 others(317): Show c.-320+55517_-320+55518insGCCGTCACCACCATTATCACTATT ATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTATCAT CATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCATCA CCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATTGCC ATCACTATCACCACCATCATGACTATCGTCACCATCACCACCACCACCAC CATCACTGACATATAATCACCATTACCACCACCACCATTATCACTGTCAT CATCATCTCCATCAATACCACC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555308	T T	TGGTGGTA others(289): Show TGGTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGTGGTGGTA ATGGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGTGATGATA GTCATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAGTGATGGT GATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTGATAATGG CGATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGTGATGGCA GTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	148	0.0068	296	c.-32 others(317): Show c.-320+55517_-320+55518insGCCGTCACCACCATTATCACTATT ATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTATCAT CATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCATCA CCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATTGCC ATCACTATCACCACCATCATGACTATCATCACCATCACCACCACCACCAC CATCACTGACATATAATCACCATTACCACCACCACCATTATCACTGTCAT CATCATCTCCATCAATACCACC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RHOF_chr12_121772754_121798688	121784284	T T	TGCCTGTA others(289): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGT CAGAGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTA CTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTG CAGTGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGA CTCAGTCTCAAAAAAAAAAAAAAAAAAAGCTGAGCGCGGTGGCTCAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19087.hp2 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0039 a0001c0001t0014 a0001c0001t0039	a0001c0001t0014g0141 a0001c0001t0039g0140 a0001c0001t0014g0141 a0001c0001t0039g0140	2	379	0.0053	296	c.227 others(313): Show c.227-3093_227-3092insGTGAGCCACCGCGCTCAGCTTTTTTTTT TTTTTTTTTTGAGACTGAGTCTCCCTCTGTCACCAGGTTGGAGTTCAGTG GCGTGATCTTGGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCT CCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGCGCGCCACCACAC CCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTAACCGTGTTGGCC AGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGC	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RHOF_chr12_121772754_121798688	121784287	T T	TTGTAATC others(289): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAG AGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAAAAA TACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTT GGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAG TGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGACTC AGTCTCAAAAAAAAAAAAAAAAAAAGCTGAGCGCGGTGGCTCACGCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01975.hp1 HG02055.hp2 others(7): Show HG01346.hp2 HG01975.hp1 HG02055.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp1 HG03688.hp1 NA19010.hp2 NA19030.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0026 a0001c0001t0054 others(3): Show a0001c0001t0003 a0001c0001t0026 a0001c0001t0054 a0002c0002t0010 a0003c0003t0018 a0003c0003t0019	a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 others(7): Show a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0211 a0001c0001t0003g0219 a0001c0001t0026g0188 a0001c0001t0054g0189 a0002c0002t0010g0136 a0003c0003t0018g0079 a0003c0003t0019g0226	10	325	0.0308	296	c.227 others(313): Show c.227-3096_227-3095insGGCGTGAGCCACCGCGCTCAGCTTTTTT TTTTTTTTTTTTTGAGACTGAGTCTCCCTCTGTCACCAGGTTGGAGTTCA GTGGCGTGATCTTGGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAAT TCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGCGCGCCACCA CACCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTAACCGTGTTG GCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTTGGCCTCC CAAAGTGCTGGGATTACA	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RIPOR3_chr20_50581108_50696542	50666193	T T	TTTTTCCT others(289): Show TTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	265	0.0038	296	c.3+2 others(311): Show c.3+24932_3+24933insGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF213_chr17_80255852_80403794	80355380	G G	GGGAAGAA others(289): Show GGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGG GTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATG GGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGG GAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGT GAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGG GGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0005 a0002c0060t0005	a0002c0060t0005g0075 a0002c0060t0005g0075	1	286	0.0035	296	c.108 others(315): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGG AATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTAT GGAGGAAGAAGCGGGGTGAA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355396	A A	AACGGGAA others(289): Show AACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGG GCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAA GAAGCGGGGTGGATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTACGGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACGGGGGAAGAAGCGGGGTGGATGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGGGTGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0080 a0080	a0080c0066 a0080c0066	a0080c0066t0023 a0080c0066t0023	a0080c0066t0023g0029 a0080c0066t0023g0029	1	286	0.0035	296	c.108 others(315): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATG GGAATGGGGGCTTACGGGGGAAGAAGCGGGGTGGATGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGGGTGGATGGG AATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTAC GGGGGAAGAAGCGGGGTGGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(289): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAG AAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAC GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCT TACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18986.hp2 HG01952.hp1 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0120 a0002c0002t0008g0041 a0002c0002t0002g0120 a0002c0002t0008g0041	2	208	0.0096	296	c.108 others(315): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAG CGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGG AATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTAC AGGGGAAGAAGTGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355398	T T	TGGGAATG others(289): Show TGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGACC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0154 a0002c0002t0008g0154	1	188	0.0053	296	c.108 others(315): Show c.10862+835_10862+836insTATGGAGGAAGAAGCGGGGTGAACGG GAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGA ATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATG GAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGTGG GGTGACCGGGAATGGGGGCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA2_chr1_27886524_27919575	27916990	T T	TCCTTCCT others(289): Show TCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCT CCCTCCCTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT CCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	233	0.0043	296	c.-25 others(307): Show c.-2548_-2547insGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGGAG GGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAG GAAGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAG GAAGGAGGAAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2416		chr1	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(289): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0160 a0002c0003t0001g0160	1	370	0.0027	296	c.727 others(311): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGT GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAG GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAG GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGG CACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG GCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(289): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02886.hp2 HG03492.hp2 HG01099.hp2 HG02886.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0139 a0001c0001t0001g0141 a0002c0002t0001g0103 a0001c0001t0001g0139 a0001c0001t0001g0141 a0002c0002t0001g0103	3	150	0.0200	296	c.899 others(311): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(289): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCC CTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02886.hp2 NA18906.hp1 HG02615.hp2 HG02886.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0058 a0001c0001t0016 a0001c0001t0058	a0001c0001t0016g0115 a0001c0001t0016g0155 a0001c0001t0058g0117 a0001c0001t0016g0115 a0001c0001t0016g0155 a0001c0001t0058g0117	3	7	0.4286	296	c.77 others(307): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTC CCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCC CCCTCCTCCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(289): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp2 HG03486.hp2 others(2): Show HG02723.hp2 HG03209.hp2 HG03486.hp2 HG04184.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0001c0025	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0025t0001	a0001c0001t0001g0078 a0001c0004t0001g0080 a0001c0005t0001g0130 others(2): Show a0001c0001t0001g0078 a0001c0004t0001g0080 a0001c0005t0001g0130 a0001c0011t0001g0079 a0001c0025t0001g0081	5	125	0.0400	296	c.167 others(311): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	T T	TCCTCCTT others(289): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	65	0.0154	296	c.167 others(311): Show c.167+373_167+668dupGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGA AGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGT TTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAA GGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAG GGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTT TCTGGGGTGAAGGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(289): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	164	0.0061	296	c.464 others(309): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGA GTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284173	G G	GTGTTGGG others(289): Show GTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGGGGTTGGG TGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTG AGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0003 a0010c0019t0003	a0010c0019t0003g0097 a0010c0019t0003g0097	1	277	0.0036	296	c.464 others(309): Show c.464+83_464+84insTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGT TGGGTGAGGGGGGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(289): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	260	0.0038	296	c.166 others(313): Show c.1663-933_1663-932insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(289): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0065 a0002c0003t0002g0065	1	226	0.0044	296	c.166 others(313): Show c.1663-142_1663-141insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCATTCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(289): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCAGGCGGGG GGGTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGTGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG03195.hp1 others(1): Show HG02615.hp2 HG03139.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0003 a0001c0002t0003 a0001c0006t0003	a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 others(1): Show a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0006t0003g0017	4	133	0.0301	296	c.335 others(313): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGG GGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGG TGGCTGGCCAGGCGGGGGGGTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGTGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(289): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCAGGCGGGGG GGTGACCCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGTGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0188 a0001c0002t0004g0188	1	130	0.0077	296	c.335 others(313): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGT GGCTGGCCAGGCGGGGGGGTGACCCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGTGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC24B_chr4_109428815_109545896	109489465	T T	TGTGCAGT others(289): Show TGTGCAGTCCCCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0068 a0001c0001t0001g0075	2	213	0.0094	296	c.116 others(315): Show c.1166-1845_1166-1844insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCAGTCCCCACTTCT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(289): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCCTATATATA TATTCCATATATATATATTCCATATATATATTCCATATATATATATTCCA TATATATATATTTCATATATATATATTCCATATATATATTCCATATATAT ATTCCATATATATATATATTCCATATATATATATATATTCCATATATATA TATTCCATATATATATATATATATATTCCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0205 a0001c0001t0001g0208	2	40	0.0500	296	c.115 others(313): Show c.115-2706_115-2705insATATATATATATATATATGGAATATATA TATATATATATATGGAATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGAAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATAGGGAATATATATATAGGGAATAT ATATATATGGAATATATATATAGGGAATATATATATATGGAATATATATA TATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(289): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	40	0.0250	296	c.-30 others(315): Show c.-309-7002_-309-7001insTCCCCTCGCTCTCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(289): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01099.hp2 others(19): Show HG00735.hp1 HG01069.hp1 HG01099.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01993.hp1 HG02135.hp1 HG02258.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18960.hp1 NA19002.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0003t0001 a0001c0003t0007 a0001c0003t0033 a0001c0004t0004 a0001c0004t0023 a0001c0004t0025 a0002c0002t0001 a0002c0002t0021	a0001c0001t0001g0074 a0001c0001t0001g0096 a0001c0001t0001g0098 others(19): Show a0001c0001t0001g0074 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0182 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0067 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0011g0292 a0001c0001t0018g0037 a0001c0003t0001g0020 a0001c0003t0001g0156 a0001c0003t0007g0112 a0001c0003t0033g0157 a0001c0004t0004g0046 a0001c0004t0023g0196 a0001c0004t0025g0197 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0021g0274	22	61	0.3607	296	c.-30 others(315): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN2_chr2_241310925_241359027	241355590	A A	AGACCTAG others(289): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCC CAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACT CCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00639.hp2 others(21): Show HG00423.hp2 HG00544.hp1 HG00639.hp2 HG01167.hp2 HG01358.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp2 HG02027.hp1 HG02080.hp2 HG02135.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 NA18612.hp1 NA18943.hp2 NA18952.hp1 NA18971.hp2 NA19010.hp2 NA19070.hp2 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0036 a0001c0001t0007g0037 others(15): Show a0001c0001t0007g0005 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0177 a0001c0001t0007g0179 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0188 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0278	24	150	0.1600	296	c.36 others(307): Show c.3653_*3654insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCC CAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCC CGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACC GACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA GGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAG	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1564		chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241355796	G G	GCCGACTC others(289): Show GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGC CCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCC CCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGC CGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCC AGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCC GCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0176 a0001c0001t0007g0176	1	380	0.0026	296	c.38 others(307): Show c.3859_*3860insCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGC GAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCC GCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAG CCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGA GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGC CCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCC CCGCCCAGCGAA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1770		chr2	TogoVar
SEPTIN7_chr7_35796057_35912110	35813282	T T	TAAAAACT others(289): Show TAAAAACTTTTAGGCCGAGGCGAGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACACAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0044 a0001c0004t0013g0044	1	344	0.0029	296	c.61+ others(313): Show c.61+12025_61+12026insCCGAGGCGAGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACACAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACTTTTAGG	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGCZ_chr8_14079845_15243431	15082977	T T	TACTTTCT others(289): Show TACTTTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0036 a0001c0001t0039g0036	1	102	0.0098	296	c.39+ others(315): Show c.39+154607_39+154608insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGTCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC ATCTCAAAAAAAAAGAAAGT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGSM2_chr17_2332501_2386054	2355038	T T	TGGGGAAG others(289): Show TGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGG GAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0197 a0002c0002t0003g0197	1	185	0.0054	296	c.134 others(313): Show c.134-6546_134-6545insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATC GGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATC GGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355053	A A	ATATCTTA others(289): Show ATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACCCCA TATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGACCCCAT ATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGAAAGGGACCCCATA TCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGCGGAAGGGACCCCATA TCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATAT CTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0341 a0002c0002t0001g0341	1	420	0.0024	296	c.134 others(313): Show c.134-6546_134-6545insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGGGTTGGCGGAAGGGACCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATC GGGGTGTAAGGGTTGGGGGAAGGGACCCCGTATCTTAGAATGGTGGAATC GGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGAA others(289): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC AGTGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGG AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0231 a0001c0002t0084g0231	1	199	0.0050	296	c.257 others(315): Show c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT GACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACC CTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTC CATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTG TAACCCTGACCCCTTCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401520	C C	CGCCCCGC others(289): Show CGCCCCGCTCACCCCCCCGGACCCGCTCACACACCGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCGGCCCCGCTCACCCCCGCCCCGCTCACCACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCCCGCTCACCCCCGCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCGCTCACACCC CCGCCCCGCTCACCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	206	0.0049	296	c.43 others(307): Show c.4375_*4376insCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGG GTGAGCGGGGCGGGGGTGTGAGCGGGCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCCGGGGGTGAGCGGGCGGGGGTGAGCGGGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCCGGGTGGTGAGCGGGGCGGGGGTGAGCGGGG CCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGGGTGAGCGGGGCGGTGTGTGAGCGGGTCCGGGGG GGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4195		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1098780	A A	ACCCAGCC others(289): Show ACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCTCT GCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCACACCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCACCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCATG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0079 a0001c0006t0011g0079	1	101	0.0099	296	c.125 others(313): Show c.125-4533_125-4532insCATGCAGAGGGTTAGAGGGGGCCTGGGC ATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGTGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGAG GGTTAGAGGGGGGCTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(289): Show AATGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATG GATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGATG GTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATGGATG GATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAATGGAT GGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGGATGG ATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG02132.hp1 others(14): Show HG00741.hp1 HG01167.hp2 HG02132.hp1 HG02145.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 NA18940.hp2 NA18941.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA19056.hp2 NA19060.hp1 NA19080.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0043 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0007g0041	17	311	0.0547	296	c.831 others(313): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATG GATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAAT GGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGG ATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGG GATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(289): Show AATGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATG GATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGATG GTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATGGATG GATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGATGGAATGGAT GGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGGATGG ATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 NA19043.hp1 HG02451.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0064 a0001c0001t0004g0196 a0001c0001t0004g0060 a0001c0001t0004g0064 a0001c0001t0004g0196	3	297	0.0101	296	c.831 others(313): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATG GATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGATGGAAT GGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGG ATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGG GATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(289): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02965.hp1 others(3): Show HG02451.hp2 HG02647.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 others(1): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026	a0001c0001t0011g0161 a0001c0001t0012g0176 a0001c0001t0019g0028 others(3): Show a0001c0001t0011g0161 a0001c0001t0012g0176 a0001c0001t0019g0028 a0001c0001t0019g0029 a0001c0001t0026g0162 a0001c0001t0026g0163	6	75	0.0800	296	c.100 others(315): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC38A9_chr5_55620848_55717324	55696703	A A	ACACCCCC others(289): Show ACACCCCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACC CCCCCCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0247 a0002c0013t0001g0247	1	347	0.0029	296	c.113 others(313): Show c.113+1142_113+1143insGGTCAGCCCCCCACCTGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCCGT CCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCGTCCGGG AGGGAGGTTGGGGGGGTG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(289): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC CACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(105): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp1 NA20905.hp2 NA21309.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0002 a0002c0003 a0002c0011 others(3): Show a0002c0002 a0002c0003 a0002c0011 a0004c0010 a0005c0008 a0006c0012	a0002c0002t0001 a0002c0003t0002 a0002c0003t0004 others(4): Show a0002c0002t0001 a0002c0003t0002 a0002c0003t0004 a0002c0011t0001 a0004c0010t0001 a0005c0008t0001 a0006c0012t0001	a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0214 others(105): Show a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0003t0002g0175 a0002c0003t0004g0007 a0002c0011t0001g0240 a0004c0010t0001g0293 a0005c0008t0001g0333 a0006c0012t0001g0245	108	301	0.3588	296	c.113 others(313): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCGT CCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79921901	A A	AGCTCAGT others(289): Show AGCTCAGTGGGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACAGTAAC CGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACTGAGTGAGAGGTC AAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGGGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGATGGACCA AGTGAGAAGTCAAGGTCACGGAGGAGAGTTGGGAACTAAGAGGTCAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0278 a0001c0001t0021g0278	1	39	0.0256	296	c.392 others(313): Show c.392-2502_392-2501insCTGACCTCTTAGTTCCCAACTCTCCTCC GTGACCTTGACTTCTCACTTGGTCCATCTCTCCCCACTGACCTTGACCTC TCCCTCGGTTCCTGTCTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCC GTCTCTCCCCACTGACCTTGACCTCTCACTCAGTTCCGTCTCTCCCCACT GACCTTGACCTCTCCCTCGGTTACTGTCTCTCCTCACTGACCTTGACCTC TCACTCGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCC CGTCTCTCCCCACTGAGC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A3_chr5_1387794_1450440	1422372	C C	CCAGTGCT others(289): Show CCAGTGCTGCCCAAGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCC ACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCATGGTGCTGGGTGC CCACCGCTGCCCAGTGCTGCCCATGGTGCTGGGTACCCACCACTGCCCAG TGCTGCCCATGGTGCTGGGTGCCCACCACTGCCCACAGTGCTGCCCACGG TGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCAC CGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	369	0.0027	296	c.654 others(311): Show c.654-359_654-358insTGGGCAGCGGTGGGTACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCA GCGGTGGGCACCCAGCACCGTGGGCAGCACTGTGGGCAGTGGTGGGCACC CAGCACCATGGGCAGCACTGGGCAGTGGTGGGTACCCAGCACCATGGGCA GCACTGGGCAGCGGTGGGCACCCAGCACCATGGGCAGCACTGGGCAGCGG TGGGTACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGC ACCTTGGGCAGCACTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92047407	C C	CAAATATA others(289): Show CAAATATATAATATATAAATATATATAATATATAAATATATATAAATATA TATATAAATATATATAAATATATAAATATATATAAATATATAAATAAATA TATAAATATATATAATATATAAATATATATAATATATAAATATATATAAA TATATATAATATATAAATATATATATATAATATATAAATATATATATAAT ATATAAATATATATATAAATATATATATATAATATATAAATATATATATA ATATATAAATATATATATAAATATATATATAATATAAATATATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	103	0.0097	296	c.647 others(315): Show c.647-47465_647-47464insATATATAAATATATATAATATATAAA TATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATAAATAAATATATAAATATATATAATATATAAATATATATAATATA TAAATATATATAAATATATATAATATATAAATATATATATATAATATATA AATATATATATAATATATAAATATATATATAAATATATATATATAATATA TAAATATATATATAATATATAAATATATATATAAATATATATATAATATA AATATATATAAAAATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMCO1_chr3_196501879_196520346	196511227	A A	AGCCACCT others(289): Show AGCCACCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCACCTAGATT GTCCTTATGAGGGAAACTTGCCTGGGCCACCTAGATTGTCTTTATGAGGG AAACTTGCCTGCGCCAAGTAGATTGTTGTTATGAGGGAAACCTGCCTGGG CCACCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCACCTAGATTGT CCTTATGAGGGAAACCTGCCTGAGCCACCTAGATTCTCATTATGAGGGAA ACCTGCCTGGGCCACCTAGATTGTCCTTATGAGGGAAACCTGCCTGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0007 a0008c0010t0007	a0008c0010t0007g0076 a0008c0010t0007g0076	1	342	0.0029	296	c.51- others(311): Show c.51-1854_51-1559dupCCAGGCAGGTTTCCCTCATAAGGACAATCT AGGTGGCCCAGGCAGGTTTCCCTCATAATGAGAATCTAGGTGGCTCAGGC AGGTTTCCCTCATAAGGACAATCTAGGTGGCCCAGGCAGGTTTCCCTCAT AAGGACAATCTAGGTGGCCCAGGCAGGTTTCCCTCATAACAACAATCTAC TTGGCGCAGGCAAGTTTCCCTCATAAAGACAATCTAGGTGGCCCAGGCAA GTTTCCCTCATAAGGACAATCTAGGTGGCCCAGGCAGGTTTCCCTCATAA GGACAATCTAGGTGGC	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196512071	C C	CTGCCTGG others(289): Show CTGCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCGC CTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCGTT ATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAACCT GCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCT AGATTGTCCTTATGAGGGAAACCTGCCTGAGCCGCCTAGATTGTCGTTAT GAGGGAAACCTGCCTCGGCCACCTACATTGTCCTTATGAGGGAAACT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp1 NA18522.hp2 others(1): Show HG02622.hp2 HG03130.hp1 NA18522.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 others(1): Show a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0154	4	389	0.0103	296	c.51- others(311): Show c.51-2403_51-2402insAGTTTCCCTCATAAGGACAATGTAGGTGGC CGAGGCAGGTTTCCCTCATAACGACAATCTAGGCGGCTCAGGCAGGTTTC CCTCATAAGGACAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACA ATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGCGGCCC AGGCAGGTTTCCCTCATAACGACAATCTAGGCGGCCCAGGCAGGTTTCCC TCATAAGGACAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAAT CTAGGCGGCCCAGGCA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SNTG2_chr2_945849_1372613	1012689	A A	AGGATCTA others(289): Show AGGATCTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGG ACAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGG TGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAG GATTTATATGGGCAGAGAGAAGAGTGGTCTGTAGAGGGATTTATAAGGGC AGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTG GTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0043 a0006c0010t0001g0043	1	187	0.0053	296	c.72+ others(313): Show c.72+61625_72+61626insCTATATGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATAAGGACAGAGAGAAGGGTGGTCTGGAGAAGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGA AGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGAGTGGTCTGTA GAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAGGGAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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