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
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(378): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCCGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCCGTCC TCCCGCTCATCCTCCCGGCCCCCTCACTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	122	0.0082	385	c.387 others(404): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCCGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCCGTCCTCCCG CTCATCCTCCCGGCCCCCTCACTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(378): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0072 a0001c0001t0023g0072	1	122	0.0082	385	c.387 others(404): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212614	G G	GCTGCGGT others(378): Show GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0012 a0007c0018t0012	a0007c0018t0012g0030 a0007c0018t0012g0030	1	196	0.0051	385	c.387 others(404): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212653	C C	CGGTCCTC others(378): Show CGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCA TCCTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCT CGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCC GCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGC CCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTC CTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTC CCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG TGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0081 a0002c0007t0002 a0001c0004t0081 a0002c0007t0002	a0001c0004t0081g0031 a0002c0007t0002g0045 a0001c0004t0081g0031 a0002c0007t0002g0045	2	193	0.0104	385	c.387 others(404): Show c.387+26221_387+26222insCCGCTCATCCTCCCGGCCCCCTCGCT GTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTC ATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCC TCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCC CGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGG CCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGT CCTCCCGCTCATCCTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATCCT CCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCT GCGGTCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	C C	CTAGTGGT others(378): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAATGGTGATGCTGGTGGTAATGG GGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGT GGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGT AATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTG GTAATGGTGATGCTGGTGGTAATGGGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19074.hp2 NA19010.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	187	0.0107	385	c.360 others(400): Show c.360-462_360-461insCCACCACCACCCCATTACCACCAGCATCAC CATTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACC ACCACCCCATTACCACCAGCATCACCATTACCACCACCACCCCATTACCA CCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTA CCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCAT TACCACCAGCATCACCACTACCACCATCACCCCATTACCACCAGCATCAC CACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722071	A A	ATGGTGGT others(378): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGG TAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGT GGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCT GGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTG ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG03225.hp1 others(1): Show HG02622.hp2 HG02886.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0006 a0001c0006t0001	a0001c0001t0001g0353 a0001c0001t0006g0321 a0001c0003t0006g0193 others(1): Show a0001c0001t0001g0353 a0001c0001t0006g0321 a0001c0003t0006g0193 a0001c0006t0001g0328	4	270	0.0148	385	c.360 others(400): Show c.360-526_360-525insCCACCCCATTACCACCAGCATCACCACTAC CACCATCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATT ACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACC ACTACCACCATCACCCCATTACCACCAGCATCACCACTACCACCATCACC CCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCA TCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCA TCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCAC CAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTAC CACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PTPRT_chr20_42067756_43194906	42993447	T T	TATATATA others(378): Show TATATATACACACACATATATATGTGTATATATATATACATACACATATA TATGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATA TACACATATATATAGTGTGTGTATATATATACATATATTTGTGTATATAT ATACATATATGTGTGTGTATATATATACATATATGTGTGTGTGTATATAT ACATATGTGTGTGTATATATACATATATATGTGTGTGTATATATACACAT ATATGTGTGTGTATATACACATATATGTGTATATATATACACATATATGT ATATATACACACACATATATGTGTATATATACACACACATATATGTGTAT ATATACACACACATATATGTGTATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	52	0.0192	385	c.89- others(404): Show c.89-107516_89-107515insGTGTGTGTATATATACACATATATGT GTGTGTATATATACACATATATGTGTGTGTATATATACACATATATGTGT GTGTATATATACATATATGTGTATATATATACACATATATGTGTATATAC ACACACATATATGTGTATATATACACACACATATATATGTATATATACAC ACACATATGTATATATACACACACACATATATGTATATATATACACACAC ATATATGTATATATATACACAAATATATGTATATATATACACACACTATA TATATGTGTATATATATATACACACACATATATATGTGTATATATATATA CATACACATATATATGTGTATGTATATATATATACACATATATATGTGTG TGTATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(378): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGC CACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCC ACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18964.hp2 NA18965.hp1 HG00408.hp1 NA18964.hp2 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006	a0001c0002t0001g0143 a0001c0002t0002g0164 a0001c0002t0006g0142 a0001c0002t0001g0143 a0001c0002t0002g0164 a0001c0002t0006g0142	3	142	0.0211	385	c.329 others(402): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTTGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCT CCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234811	A A	AAGGCTGG others(378): Show AAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCT CATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCC CCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGG GAGCAAGGCTGGTCTCCACGAGGCCTCCCAGCTCCACTGCGCCCGCCCCA GCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGG CCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGC TTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGC CCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0031 a0001c0001t0008g0031	2	377	0.0053	385	c.329 others(402): Show c.329-7938_329-7937insCGCTCCCAAGCTGGGGTGTGGCGCGATG AGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTT GCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAG CTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGC GATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGAGGCCTCGTGGAGACCAG CCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGT GGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTG GCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGA CCAGCCT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234811	A A	AAGGCTGG others(378): Show AAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCT CATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCTC CCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGG GAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCA GCCTCATCGCGCCACACCCCAGCTTGGGAGCGAGGCTGGTCTCCACGAGG CCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGC TTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGC CCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02976.hp2 HG01074.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	2	377	0.0053	385	c.329 others(402): Show c.329-7938_329-7937insCGCTCCCAAGCTGGGGTGTGGCGCGATG AGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTT GCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAG CTGGGGGGCCTCGTGGAGACCAGCCTCGCTCCCAAGCTGGGGTGTGGCGC GATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAG CCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGT GGAGCTGGGAGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTG GCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGA CCAGCCT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RASA3_chr13_113972783_114137623	114099611	G G	GCCCCCAC others(378): Show GCCCCCACAGCAGCCCCCCGTAGCCCCCCACAGCAGCCCCCCACAGCCCC CCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACA GCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCC CCAGCAGCCCCCACAGCAGCCCCCACAGCAGCCCCCACAGCAGCCCCCCG TAGCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCACAGC CCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCC CCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCAC AGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	63	0.0159	385	c.56- others(402): Show c.56-25775_56-25774insGCTGTGGGGGGCTGTGGGGGGGCTGCTG TGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG GCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGC TGTGGGGGGCTGTGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGT GGGGGCTACGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGCTGCTGTGGGG GCTGCTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCT GTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGG GCTGTGGGGGGGCTGTGGGGGGCTGCTGTGGGGGGCTACGGGGGGCTGCT GTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(378): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03927.hp2 HG01981.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0001g0222 a0001c0001t0001g0241	2	82	0.0244	385	c.132 others(402): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPH3AL_chr17_207389_357807	296178	G G	GCAGAGGG others(378): Show GCAGAGGGAATGCACATCGGTGTGGGAGGGACAGAGGAGCTGCAGAAATG GATGGACAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCAG AAATGGATGGACAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGC TGCAGAAATGGATGGACAGAGGGAATGCACATCAGTGTGGGAGGGACAGA GGAGCTGCAGAAATGGATGGACAGAGGGAATGCACATCAGTGTGGGAGGG ACAGAGGAGCTGCAGAAATGGATGGACAGAGGGAATGCACATCAGTGTGG GAGGGACAGAGGAGCTGCAGAAATGGATGGACAGAGGGAATGCACATCAG TGTGGGAGGGACAGAGGAGCTGCAGAAATGGATGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02559.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0119 a0001c0001t0006g0095 a0001c0001t0001g0119 a0001c0001t0006g0095	2	130	0.0154	385	c.352 others(404): Show c.352-14325_352-14324insTCCATCCATTTCTGCAGCTCCTCTGT CCCTCCCACACTGATGTGCATTCCCTCTGTCCATCCATTTCTGCAGCTCC TCTGTCCCTCCCACACTGATGTGCATTCCCTCTGTCCATCCATTTCTGCA GCTCCTCTGTCCCTCCCACACTGATGTGCATTCCCTCTGTCCATCCATTT CTGCAGCTCCTCTGTCCCTCCCACACTGATGTGCATTCCCTCTGTCCATC CATTTCTGCAGCTCCTCTGTCCCTCCCACACTGATGTGCATTCCCTCTGT CCATCCATTTCTGCAGCTCCTCTGTCCCTCCCACACTGATGTGCATTCCC TCTGTCCATCCATTTCTGCAGCTCCTCTGTCCCTCCCACACCGATGTGCA TTCCCTCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SHANK1_chr19_50654255_50724802	50678936	A A	ATGATGGG others(378): Show ATGATGGGGAGGGGTCAGGGTGAGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTT ACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGAT GGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0195 a0002c0001t0001g0195	1	250	0.0040	385	c.257 others(404): Show c.2578-6823_2578-6822insCCCTGACCCCTCCCCATCATCTTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG ACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTG TAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACAC CCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCC CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCTCACCCTGACCCC TCCCCATCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(378): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0079 a0003c0004t0003g0079	1	181	0.0055	385	c.165 others(402): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02723.hp2 others(1): Show HG02451.hp1 HG02486.hp1 HG02723.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0154 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0154	4	219	0.0183	385	c.43 others(396): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCG GGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG G	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGGCCCGCTCACACCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	216	0.0046	385	c.43 others(396): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGTGTGAGCGGGCCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCG GGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG G	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCACTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGACCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	216	0.0046	385	c.43 others(396): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGTC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGTGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG G	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	216	0.0046	385	c.43 others(396): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG G	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(378): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCCCCATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGTCCCCGTG GCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG03195.hp2 HG02055.hp2 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0062 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0062	3	107	0.0280	385	c.271 others(404): Show c.271+26235_271+26236insACACACTTGAGCCCAGGAGTTCAACA CCAGCCTGGCCACGGGGACACACACATACATACACACACACACACACACA CACACACACACACACACACACTTGAGCCCAGGAGTTCAACACCAGCCTGG ACATGGGGACACACACACACACACACACACACACACACACGAGCCCAGGA GTTCAACACCAGCCTGGACACAGGGACACACACACACACTTGAGCCCAGG AGTTCAACACCAGCCTGGACACGGGGACACACACACACACACACTTGAGC CCAGGAGTTCAACACCAGCCTGGATACGGGGACACACACACACACTTGAG CCCAGGAGTTCACCAGCCTGGACACAGGGACACACACACACACACACACA CACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC25A21_chr14_36672921_37177606	36789863	A A	ATATATTT others(378): Show ATATATTTATATATATTTATATATTTATATATATTTATATATATTTATAT ATATTTATATATTTATATATATTTATATATATATTTATATATATTTATAT ATTTATATATATTTTTATATAATATATTTTTATTATATATATATTTATAT ATATAATATAATATATATATTATATATATAATATATTTATATATATTTAT ATATATTATATATATTATATATTTATATATATTTATATATATTTATATAT TTATATATAATATATTTTTATATATTTTTATATAAATTTATATATATATT TTATATATATTTATATATAAATATATTTTTATATATTTATATAAATATAT ATTATATATTTATATAAAATATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0006 a0001c0001t0014g0142 a0001c0001t0014g0006 a0001c0001t0014g0142	2	161	0.0124	385	c.203 others(404): Show c.203+24054_203+24055insAATATATATAATATATATTTTATATA AATATATAATATATATTTATATAAATATATAAAAATATATTTATATATAA ATATATATAAAATATATATATAAATTTATATAAAAATATATAAAAATATA TTATATATAAATATATAAATATATATAAATATATATAAATATATAATATA TATAATATATATAAATATATATAAATATATTATATATATAATATATATAT TATATTATATATATAAATATATATATAATAAAAATATATTATATAAAAAT ATATATAAATATATAAATATATATAAATATATATATAAATATATATAAAT ATATAAATATATATAAATATATATAAATATATATAAATATATAAATATAT ATAAATATA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36789863	A A	ATATATTT others(378): Show ATATATTTATATATATTTATATATTTATATATATTTATATATATTTATAT ATATTTATATATTTATATATATTTATATATATATTTATATATATTTATAT ATTTATATATATTTTTATATAATATATTTTTATTATATATATATTTATAT ATATAATATAATATATATATTATATATATAATATATTTATATATATTTAT ATATATTATATATATTATATATTTATATATATTTATATATATTTATATAT TTATATATAATATATTTTTATATATTTTTATATAAATTTATATATGTATT TTATATATATTTATATATAAATATATTTTTATATATTTATATAAATATAT ATTATATATTTATATAAAATATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20300.hp1 HG02109.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0016 a0002c0004t0008 a0002c0003t0016 a0002c0004t0008	a0002c0003t0016g0155 a0002c0004t0008g0123 a0002c0003t0016g0155 a0002c0004t0008g0123	2	161	0.0124	385	c.203 others(404): Show c.203+24054_203+24055insAATATATATAATATATATTTTATATA AATATATAATATATATTTATATAAATATATAAAAATATATTTATATATAA ATATATATAAAATACATATATAAATTTATATAAAAATATATAAAAATATA TTATATATAAATATATAAATATATATAAATATATATAAATATATAATATA TATAATATATATAAATATATATAAATATATTATATATATAATATATATAT TATATTATATATATAAATATATATATAATAAAAATATATTATATAAAAAT ATATATAAATATATAAATATATATAAATATATATATAAATATATATAAAT ATATAAATATATATAAATATATATAAATATATATAAATATATAAATATAT ATAAATATA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(378): Show GTATATATATACACATAGTATATATATTCTACGTATATATATACACATAG TATATATATTCTACGTATATATATACACACGTAGTATATATATTCTATGT GTATATATATACACATAGTATATATATTCTACGTGTGTATATATATACAC ATAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATA TATACTATGTGTATATATATACACGTAGAATATATATACTATGTGTATAT ATACGTAGAATATATATACTATGTGTATATATACGTAGAATATATATACT ATGTGTATATATATACGTAGAATATATATACTATGTGTATATATATACGT AGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0174 a0001c0001t0016g0174	1	52	0.0192	385	c.174 others(404): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTA TATATATACACATAGTATATATATTCTACGTATATATATACACACGTAGT ATATATATTCTATGTGTATATATATACACATAGTATATATATTCTACGTG TGTATATATATACACATAGTATATATATTCTACGTGTATGTATACACATA TATACATAGAATATATATACTATGTGTATATATATACACGTAGAATATAT ATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATATACG TAGAATATATATACTATGTGTATATATATACGTAGAATATATATACTATG TGTATATATATACGTAGAATATATATACTATGTGTATATATATACGTAGA ATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(378): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATATATTA TATATAATATAAATATATTATATATATTATATATAAATATAAATATATTA TATATATTATATATAAATATAAATATATTATATATTATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATTATATATAAATAT AAATATATTATATATTATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTAATATATTATATATAATATAAATATATTATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG00639.hp2 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0293 a0002c0002t0005g0022 a0002c0002t0005g0293	2	133	0.0150	385	c.-70 others(402): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTTATATATAATATATAATATATTTATATTTATATAATA TATAATATATTTATATTTATATAATATATAATATATTTATATTTATATAT AATATATATAATATATTTATATTTATATATAATATATATAATATATTTAT ATTATATATAATATATATATTTATATTTATGTATAATATATATAATATAT TTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC7A1_chr13_29504414_29600688	29559472	G G	GGGGGAGT others(378): Show GGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGGAGA GAATGTGAGTGACGGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGA GTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGA GTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGA GTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGA GAGAATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTG AGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTGAGGGG GAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	300	0.0033	385	c.-11 others(404): Show c.-114-5613_-114-5612insTCACTCACATTCTCTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCTCTCCCCCCTCACTCACATTCACT CCCCGTCACTCACATTCACTCCCCCCTCACTCACATTCACTCCCCGTCAC TCACATTCTCTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCAC TCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCAC TCACATTCACTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCAC TCCCCCTCACTCACATTCTCTCCCCCCTCACTCACATTCACTCCCCCGTC ACTCACATTCTCTCCCCCCTCACTCACATTCACTCCCCCCTCACTCACAT TCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(378): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCACCATC ACCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCAACCCTCCCCAC GCTCCACTCCCCACGCCATCGCCGACCCTCCCCACGCTCCACTCCCCACG CCATCGCCGACCCTCCCCACGCTCCACTCCCCACGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCC ACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp2 NA19081.hp2 HG00642.hp2 HG01257.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0002 a0001c0001t0007 a0002c0002t0002	a0001c0001t0007g0032 a0001c0001t0007g0035 a0002c0002t0002g0020 a0001c0001t0007g0032 a0001c0001t0007g0035 a0002c0002t0002g0020	3	34	0.0882	385	c.212 others(402): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTC GGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGTGGGG AGTGGAGCGTGGGGAGGGTTGGCGATGGCGCGGGGAGTGGAGCGTGGGGA GGGTCGGTGATGGTGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(378): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCACCATC ACCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCACGCCATCGCCGACCCTCCCCACGCTCCACTCCCCACG CCATCGCCGACCCTCCCCACGCTCCACTCCCCACGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCC ACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	32	0.0313	385	c.212 others(402): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTC GGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGTGGGG AGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGA GGGTCGGTGATGGTGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(378): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATAATATATATATAAAATATATATATTATATATTATATAATA TATATATAAAATATATATAATATATAATATATGTAATATTATATATATTA TATATTATATATATTATATATTATATATATAATATATAATATATATTATA TATTATATATATTATATATAATATATATTATATATTATATATATTATATA TAATATATTATATATAATATATATAATATATTATATATAATATATATAAT ATATTATATATATTATATATAATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	161	0.0062	385	c.151 others(404): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATAAAATATATATATTA TATAATATATATATAAAATATATATATTATATAATATATATATAAAATAT ATATATTATATATTATATAATATATATATAAAATATATATAATATATAAT ATATGTAATATTATATATATTATATATTATATATATTATATATTATATAT ATAATATATAATATATATTATATATTATATATATTATATATAATATATAT TATATATTATATATATTATATATAATATATTATATATAATATATATAATA TATTATATATAATATATATAATATATTATATATATTATATATAATATATT ATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(378): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATAATATATATATAAAATATATATATTATATATTATATAATA TATATATAAAATATATATAATATATAATATATGTAATATTATATATATTA TATATTATATATATTATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATAATATATATTATATATTATATATATTATATA TAATATATTATATATAATATATATAATATATTATATATAATATATATAAT ATATTATATATATTATATATAATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0109 a0002c0003t0003g0109	1	161	0.0062	385	c.151 others(404): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATAAAATATATATATTA TATAATATATATATAAAATATATATATTATATAATATATATATAAAATAT ATATATTATATATTATATAATATATATATAAAATATATATAATATATAAT ATATGTAATATTATATATATTATATATTATATATATTATATATTATATAT ATTATATATAATATATATTATATATTATATATATTATATATAATATATAT TATATATTATATATATTATATATAATATATTATATATAATATATATAATA TATTATATATAATATATATAATATATTATATATATTATATATAATATATT ATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(378): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATAATATATATATAAAATATATATATTATATATTATATAATA TATATATAAAATATATATAATATATATTATATGTAATATTATATATATTA TATATTATATATATTATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATAATATATATTATATATTATATATATTATATA TAATATATTATATATAATATATATAATATATTATATATAATATATATAAT ATATTATATATATTATATATAATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0133 a0001c0002t0003g0133	1	161	0.0062	385	c.151 others(404): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATAAAATATATATATTA TATAATATATATATAAAATATATATATTATATAATATATATATAAAATAT ATATATTATATATTATATAATATATATATAAAATATATATAATATATATT ATATGTAATATTATATATATTATATATTATATATATTATATATTATATAT ATTATATATAATATATATTATATATTATATATATTATATATAATATATAT TATATATTATATATATTATATATAATATATTATATATAATATATATAATA TATTATATATAATATATATAATATATTATATATATTATATATAATATATT ATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850538	T T	TTATATAT others(378): Show TTATATATTATATATATATTATATATATTATGTATAATATATATTATATA TTATATATATTATGTATAATATATATTATATATTATATATATATTATATA TATTATGTATAATATATATTATATATTATATATATATTATATATATTATG TATAATATATATTATATATTATATATATATTATATATATTATGTATAATA TATATTATATATTATATATATATTATATATATTATGTATAATATATATTA TATATTATATATATATTATATATATTATGTATAATATATATTATATATTA TATATATATTATATATATTATGTATAATATATATTATATATTATATATAT ATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0239 a0001c0001t0108g0239	1	290	0.0034	385	c.784 others(400): Show c.784+735_784+736insTAATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATATAATATATATAT AATATATAATATATATTATACATAATATATATAATATATATATAATATAT AATATATATTATACATAATATATATAATATATATATAATATATAATATAT ATTATACATAATATATATAATATATATATAATATATAATATATATTATAC ATAATATATATAATATATATATAATATATAATATATATTATACATAATAT ATATAATATATAATATATATTATACATAATATATATAATATATATATAAT ATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNAPC4_chr9_136370571_136405170	136403416	C C	CGGGGGAA others(378): Show CGGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG GGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGG GGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGG GGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGA GAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGA AAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAA GGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGG GACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0004 a0003c0028t0004	a0003c0028t0004g0174 a0003c0028t0004g0174	1	327	0.0031	385	c.-32 others(396): Show c.-3293_-3292insCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTG TCCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTC CCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCC TTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTT TCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCT CCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTC CCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTCCC CCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCCCC C	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3247		chr9	TogoVar
SNX9_chr6_157818246_157950077	157827205	C C	CATATATT others(378): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATA ATATATACACATATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATA TATACATATATATTATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	214	0.0047	385	c.12+ others(400): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATACACATATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATACATATATATTATAGTTTAT ATAATATATACATATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827350	C C	CATATAGT others(378): Show CATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATA TATACATATATATTATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	211	0.0047	385	c.12+ others(400): Show c.12+3909_12+3910insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATACATATATATTATAGTTTATATAATATATACAT ATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TATATATA others(378): Show TATATATAATATGTAATATATTATATATATTTATATATAATATGTAATAT ATTATATATATTTATATATATAATATGTAATATATTATATATATTTATAT ATATAATATGTAATATATTATATATATTTATATATATAATATGTAATATA TTATATATATTTATATATATAATATGTAATATATTATATATATTTATATA TATAATATGTAATATATTATATATATTTATATATAATATGTAATATATTA TATATATTTATATATATAATATGTAATATATTATATATATTTATATATAT AATATGTAATATATTATATATATTTATATATATAATATGTAATATATTAT ATATATTTATATATAATATGTAATATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0050 a0001c0006t0050	a0001c0006t0050g0017 a0001c0006t0050g0017	1	311	0.0032	385	c.-11 others(406): Show c.-112+28762_-112+28763insGTAATATATTATATATATTTATAT ATAATATGTAATATATTATATATATTTATATATATAATATGTAATATATT ATATATATTTATATATATAATATGTAATATATTATATATATTTATATATA TAATATGTAATATATTATATATATTTATATATATAATATGTAATATATTA TATATATTTATATATATAATATGTAATATATTATATATATTTATATATAA TATGTAATATATTATATATATTTATATATATAATATGTAATATATTATAT ATATTTATATATATAATATGTAATATATTATATATATTTATATATATAAT ATGTAATATATTATATATATTTATATATAATATGTAATATATATAAAAGC ATATATAATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(378): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGG AGGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGG GGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGG GAGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0002 a0017c0024t0002	a0017c0024t0002g0251 a0017c0024t0002g0251	1	6	0.1667	385	c.138 others(404): Show c.1384-5708_1384-5707insCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCC TCCCCCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCT CCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882561	G G	GGAAAGGA others(378): Show GGAAAGGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGG GAGGAGAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAA GAAGGGGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAG GGGAAGGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAG GAAAGGGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGGGGGGAGGGAAG GGGGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAG GAAGAGAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAA GGGAAGAAGGGAAGGGAAGGAGGGAAGGGAAGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18963.hp1 NA18974.hp2 others(8): Show HG00558.hp2 NA18963.hp1 NA18974.hp2 NA18980.hp1 NA19002.hp2 NA19010.hp1 NA19056.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0140 a0001c0002t0001g0159 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0140 a0001c0002t0001g0159 a0001c0002t0001g0161	11	356	0.0309	385	c.40 others(396): Show c.4037_*4038insTTCCCTTCCCTTCCCTCCTTCCCTTCCCTTCTTC CCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTTCCCTTCTTCTCT TCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCCTCCCCCTCTTCC CCCTTCCCTCCCCCCTTTCCTTCCCTTCCCTCGCCCTCTTCCCTTCCCTT TCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTTCCCTTC CCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCTTCCCCT TCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCCCTCTCC TCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTTTCCTTT C	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2759		chr9	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882561	G G	GGAAAGGA others(378): Show GGAAAGGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGG GAGGAGAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAA GAAGGGGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAG GGGAAGGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAG GAAAGGGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGGGGGGGAGGGAA GGGGGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAA GGAAGAGAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAGGGAAGAAAGGAA GGGAAGAAGGGAAGGGAAGGAGGGAAGGGAAGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	346	0.0029	385	c.40 others(396): Show c.4037_*4038insTTCCCTTCCCTTCCCTCCTTCCCTTCCCTTCTTC CCTTCCTTTCTTCCCTCCCTTCTTTCCTTCTTCCCTTCCCTTCTTCTCTT CCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCCTCCCCCTCTTCCC CCTTCCCTCCCCCCCTTTCCTTCCCTTCCCTCGCCCTCTTCCCTTCCCTT TCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTTCCCTTC CCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCTTCCCCT TCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCCCTCTCC TCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTTTCCTTT C	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2759		chr9	TogoVar
STK32C_chr10_132202492_132312950	132251789	A A	AACACCCT others(378): Show AACACCCTACACCTCCTGGGGCCTCCGACCCTCCACTACCCACCACAGGC AGGTCAATGCCCTACGCCTCCTGGGGCCTCAGACCCTCCACTACCCACCA CAGGCAGGTCAATGCCCTACACCTCCTGGGGCCTCAGACCCTCCACTACT CACCACAGGCAGGTCGATGCCCTACGCCTCCTGGGGCCTCAGACCCTCCA CTACTCACCACAGGCAGGTCGATGCCCTACGCCTCCTGGGGCCTCAGACC CTCCACTACTCACCACAGGCAGGTCGATGCCCTACGCCTCCTGGGGCCTC AGACCCTCCACTACCCACCACAGGCAGGTCAATGCCCTACGCCTCCTGGG GCCTCAGACCCTCCACTACTCACCACAGGCAGGTCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00099.hp1 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0139 a0001c0003t0001g0265 a0001c0002t0002g0139 a0001c0003t0001g0265	2	246	0.0081	385	c.263 others(402): Show c.263-5835_263-5834insCGACCTGCCTGTGGTGAGTAGTGGAGGG TCTGAGGCCCCAGGAGGCGTAGGGCATTGACCTGCCTGTGGTGGGTAGTG GAGGGTCTGAGGCCCCAGGAGGCGTAGGGCATCGACCTGCCTGTGGTGAG TAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGCATCGACCTGCCTGTG GTGAGTAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGCATCGACCTGC CTGTGGTGAGTAGTGGAGGGTCTGAGGCCCCAGGAGGTGTAGGGCATTGA CCTGCCTGTGGTGGGTAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGC ATTGACCTGCCTGTGGTGGGTAGTGGAGGGTCGGAGGCCCCAGGAGGTGT AGGGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STX7_chr6_132440867_132518116	132490965	G G	GCAGCACA others(378): Show GCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0317 a0001c0001t0062g0317	1	145	0.0069	385	c.85+ others(402): Show c.85+12480_85+12481insTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTG	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	2/9			chr6	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(378): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATACACACA TATGTGTGTATATACATATATACATATATACATATATACATATATACACA TATGTGTACATATGTGTATATATACATATATATACACATATATATGTATA TATACACATATGTGTACATATGTGTATATATACATATATACACATATATA TGTATATATACACATATGTGAATATATATGTGTTATATATACACATATGT GTATATGTATATATGTATATATACACATATGTGTATATATACATATATAC ATATACACATATGTGTATATATAACACATATATATACACATATGTGTATA TATACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0267 a0001c0002t0016g0267	1	220	0.0045	385	c.158 others(404): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATACACACATATGTGTGTATATACATATATACATAT ATACATATATACATATATACACATATGTGTACATATGTGTATATATACAT ATATATACACATATATATGTATATATACACATATGTGTACATATGTGTAT ATATACATATATACACATATATATGTATATATACACATATGTGAATATAT ATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACACA TATGTGTATATATACATATATACATATACACATATGTGTATATATAACAC ATATATATACACATATGTGTATATATACATATATACATATACACATATGT GTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(378): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACTTATATACACATATGTGTACATATGTGTATATATACA TATATATACACATATATATGTATATATACACATATGTGTACATATGTGTA TATATACATATATACACATATATATGTATATATACACATATGTGAATATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATATGTGTATATATACATATATACACATATGTGTATATATACATATATAC ATATACACATATGTGTATATATAACACATATATATACACATATGTGTATA TATACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	220	0.0045	385	c.158 others(404): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACTTATATACACATAT GTGTACATATGTGTATATATACATATATATACACATATATATGTATATAT ACACATATGTGTACATATGTGTATATATACATATATACACATATATATGT ATATATACACATATGTGAATATATATGTGTTATATATACACATATGTGTA TATGTATATATGTATATATACACATATGTGTATATATACATATATACACA TATGTGTATATATACATATATACATATACACATATGTGTATATATAACAC ATATATATACACATATGTGTATATATACATATATACATATACACATATGT GTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYN3_chr22_32502820_33063381	32931818	C C	CCAGATGC others(378): Show CCAGATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTCATGC TCTACAGTAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGGACAT TTTCTCTAGATTTTCTCACCTTCATGCTCTACAGTAGTATGGCATCATGA CTCTGCAGATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTC ATGCTCTACAGCAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGG ACATTTTCTCTAGATTTTCTCACCTTCATGCTCTACAGCAGTATGGCATC ATGACTCTGCAGATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCAC CTTCATGCTCTACAGTAGTATGGCATCATGACTCTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0026 a0001c0001t0026g0026	1	90	0.0111	385	c.370 others(400): Show c.370-338_370-337insCAGAGTCATGATGCCATACTACTGTAGAGC ATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCATCTGCAG AGTCATGATGCCATACTGCTGTAGAGCATGAAGGTGAGAAAATCTAGAGA AAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATACTGCTGTA GAGCATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCATCT GCAGAGTCATGATGCCATACTACTGTAGAGCATGAAGGTGAGAAAATCTA GAGAAAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATACTAC TGTAGAGCATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGC ATCTG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13			chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(378): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCC TCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	165	0.0061	385	c.186 others(402): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTC TCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCT CCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(378): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCC TCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	165	0.0061	385	c.186 others(402): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTC TCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCT CCTCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
THEG_chr19_356747_381026	377448	G G	GCCCCACC others(378): Show GCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCC CCCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTC CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCAC CCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCTCTGTGCCTCCACCCAGCCTCTCCCCC CTCTGTGCCTCCACCCAGCCTCTCCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	303	0.0033	385	c.-14 others(396): Show c.-1479_-1478insGCACAGAGGGGGGAGAGGCTGGGTGGAGGCACAG AGGGGGGAGAGGCTGGGTGGAGGCACAGAGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCT GGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACG GGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGG G	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1423		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(378): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	10	0.1000	385	c.129 others(406): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGA TGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(378): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG02965.hp1 HG01884.hp1 HG02809.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0001c0001t0012 a0002c0003t0001 a0001c0001t0008 a0001c0001t0012 a0002c0003t0001	a0001c0001t0008g0092 a0001c0001t0012g0002 a0002c0003t0001g0025 a0001c0001t0008g0092 a0001c0001t0012g0002 a0002c0003t0001g0025	3	12	0.2500	385	c.129 others(406): Show c.1299+34113_1299+34497dupCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377590	T T	TCCTCTCC others(378): Show TCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTC TCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCT CCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCC TCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTC TCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTC CTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCC CCTTCCCTCCCCTCCCTCTCCCCTTCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	77	0.0130	385	c.-25 others(404): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTC CTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCT CCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTC TTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTC TCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCT TCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCTCTCCCCTTCCCTCC CCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(378): Show CTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCCCCCCTCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTC TCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCC CCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTC GCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCCC CTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCC CGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCC CTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	46	0.0217	385	c.-25 others(404): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTTCCCTCCCCTCTC CCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTC CTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCT CCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTC TTCCCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTC CCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCC TCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar

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